Incidental Mutation 'R8943:Ryr3'
ID 681078
Institutional Source Beutler Lab
Gene Symbol Ryr3
Ensembl Gene ENSMUSG00000057378
Gene Name ryanodine receptor 3
Synonyms calcium release channel isoform 3
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 112461700-113047441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112465669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 4781 (N4781S)
Ref Sequence ENSEMBL: ENSMUSP00000146449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003705] [ENSMUST00000080673] [ENSMUST00000091818] [ENSMUST00000099588] [ENSMUST00000134358] [ENSMUST00000208151] [ENSMUST00000208290]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000003705
SMART Domains Protein: ENSMUSP00000003705
Gene: ENSMUSG00000003604

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
low complexity region 35 73 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000080673
AA Change: N4810S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079503
Gene: ENSMUSG00000057378
AA Change: N4810S

DomainStartEndE-ValueType
low complexity region 90 99 N/A INTRINSIC
MIR 100 155 3.27e-4 SMART
MIR 162 207 7.52e-4 SMART
MIR 215 269 8.06e-4 SMART
MIR 275 368 8.4e-25 SMART
Pfam:RYDR_ITPR 438 642 1.1e-71 PFAM
SPRY 657 795 1.16e-24 SMART
Pfam:RyR 848 942 1.5e-34 PFAM
Pfam:RyR 962 1056 1.2e-32 PFAM
SPRY 1084 1207 7.99e-37 SMART
SPRY 1325 1465 6.25e-30 SMART
low complexity region 1757 1772 N/A INTRINSIC
low complexity region 1773 1788 N/A INTRINSIC
low complexity region 1932 1957 N/A INTRINSIC
Pfam:RYDR_ITPR 2018 2228 1.8e-59 PFAM
Pfam:RyR 2595 2689 1.2e-36 PFAM
Pfam:RyR 2713 2801 2.1e-31 PFAM
low complexity region 2877 2887 N/A INTRINSIC
low complexity region 3169 3184 N/A INTRINSIC
low complexity region 3327 3338 N/A INTRINSIC
PDB:2BCX|B 3462 3491 9e-12 PDB
low complexity region 3532 3540 N/A INTRINSIC
coiled coil region 3585 3614 N/A INTRINSIC
Pfam:RIH_assoc 3715 3848 4.9e-40 PFAM
low complexity region 3855 3875 N/A INTRINSIC
SCOP:d1sra__ 3893 3989 1e-10 SMART
low complexity region 4096 4134 N/A INTRINSIC
transmembrane domain 4178 4200 N/A INTRINSIC
Pfam:RR_TM4-6 4227 4497 4.7e-96 PFAM
Pfam:Ion_trans 4599 4762 2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091818
AA Change: N4835S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089426
Gene: ENSMUSG00000057378
AA Change: N4835S

DomainStartEndE-ValueType
low complexity region 110 119 N/A INTRINSIC
MIR 120 175 3.27e-4 SMART
MIR 182 227 7.52e-4 SMART
MIR 235 289 8.06e-4 SMART
MIR 295 388 8.4e-25 SMART
Pfam:RYDR_ITPR 460 655 1.2e-64 PFAM
SPRY 677 815 1.16e-24 SMART
Pfam:RyR 869 959 3.3e-38 PFAM
Pfam:RyR 983 1073 2.5e-32 PFAM
SPRY 1104 1227 7.99e-37 SMART
SPRY 1345 1485 6.25e-30 SMART
low complexity region 1777 1792 N/A INTRINSIC
low complexity region 1793 1808 N/A INTRINSIC
low complexity region 1952 1977 N/A INTRINSIC
Pfam:RYDR_ITPR 2040 2248 5.8e-67 PFAM
Pfam:RyR 2616 2706 6.3e-33 PFAM
Pfam:RyR 2734 2818 6.6e-26 PFAM
low complexity region 2897 2907 N/A INTRINSIC
low complexity region 3189 3204 N/A INTRINSIC
PDB:2BCX|B 3487 3516 1e-11 PDB
low complexity region 3557 3565 N/A INTRINSIC
coiled coil region 3610 3639 N/A INTRINSIC
Pfam:RIH_assoc 3744 3862 3.5e-34 PFAM
low complexity region 3880 3900 N/A INTRINSIC
SCOP:d1sra__ 3918 4014 1e-10 SMART
low complexity region 4121 4159 N/A INTRINSIC
transmembrane domain 4203 4225 N/A INTRINSIC
Pfam:RR_TM4-6 4252 4522 1.1e-98 PFAM
Pfam:Ion_trans 4625 4799 6.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099588
SMART Domains Protein: ENSMUSP00000097184
Gene: ENSMUSG00000003604

DomainStartEndE-ValueType
low complexity region 135 148 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000134358
AA Change: N4805S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000208151
AA Change: N4781S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208290
AA Change: N4815S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(5) Targeted, other(2) Gene trapped(3)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Cadm1 T C 9: 47,701,136 (GRCm39) I141T probably damaging Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Cldn18 T C 9: 99,578,162 (GRCm39) M194V probably benign Het
Dgkb T A 12: 38,652,777 (GRCm39) Y721N probably damaging Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Eif2b3 G A 4: 116,901,778 (GRCm39) G147E probably damaging Het
Fam193a A G 5: 34,597,796 (GRCm39) D531G probably benign Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpcat1 A G 13: 73,662,029 (GRCm39) T409A probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mc4r A C 18: 66,993,110 (GRCm39) M1R probably null Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Ppfibp1 T A 6: 146,920,681 (GRCm39) probably null Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sfswap A G 5: 129,581,168 (GRCm39) R114G probably damaging Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null Het
Other mutations in Ryr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Ryr3 APN 2 112,490,494 (GRCm39) missense probably damaging 0.98
IGL00531:Ryr3 APN 2 112,493,357 (GRCm39) splice site probably benign
IGL00785:Ryr3 APN 2 112,666,448 (GRCm39) missense possibly damaging 0.95
IGL00901:Ryr3 APN 2 112,716,934 (GRCm39) missense probably damaging 1.00
IGL00910:Ryr3 APN 2 112,559,279 (GRCm39) splice site probably benign
IGL00970:Ryr3 APN 2 112,595,021 (GRCm39) missense probably damaging 1.00
IGL01083:Ryr3 APN 2 112,582,191 (GRCm39) splice site probably benign
IGL01105:Ryr3 APN 2 112,582,150 (GRCm39) missense probably damaging 1.00
IGL01287:Ryr3 APN 2 112,539,418 (GRCm39) missense probably damaging 1.00
IGL01343:Ryr3 APN 2 112,490,399 (GRCm39) missense probably damaging 1.00
IGL01472:Ryr3 APN 2 112,502,593 (GRCm39) missense probably benign 0.20
IGL01552:Ryr3 APN 2 112,656,228 (GRCm39) missense possibly damaging 0.53
IGL01594:Ryr3 APN 2 112,603,073 (GRCm39) missense probably damaging 1.00
IGL01723:Ryr3 APN 2 112,480,456 (GRCm39) critical splice donor site probably null
IGL01837:Ryr3 APN 2 112,631,665 (GRCm39) missense probably damaging 1.00
IGL01868:Ryr3 APN 2 112,633,503 (GRCm39) splice site probably benign
IGL01907:Ryr3 APN 2 112,699,346 (GRCm39) splice site probably benign
IGL02005:Ryr3 APN 2 112,493,608 (GRCm39) splice site probably benign
IGL02014:Ryr3 APN 2 112,777,260 (GRCm39) missense possibly damaging 0.86
IGL02109:Ryr3 APN 2 112,779,502 (GRCm39) missense probably benign
IGL02178:Ryr3 APN 2 112,656,144 (GRCm39) missense probably benign 0.17
IGL02185:Ryr3 APN 2 112,797,548 (GRCm39) missense probably damaging 0.99
IGL02189:Ryr3 APN 2 112,585,183 (GRCm39) splice site probably benign
IGL02200:Ryr3 APN 2 112,679,855 (GRCm39) missense probably damaging 0.98
IGL02302:Ryr3 APN 2 112,794,701 (GRCm39) missense probably damaging 1.00
IGL02305:Ryr3 APN 2 112,475,622 (GRCm39) missense probably damaging 0.96
IGL02306:Ryr3 APN 2 112,664,459 (GRCm39) missense probably damaging 0.98
IGL02306:Ryr3 APN 2 112,677,744 (GRCm39) critical splice donor site probably null
IGL02340:Ryr3 APN 2 112,777,349 (GRCm39) splice site probably benign
IGL02398:Ryr3 APN 2 112,677,767 (GRCm39) missense probably benign 0.05
IGL02407:Ryr3 APN 2 112,585,303 (GRCm39) missense probably damaging 1.00
IGL02426:Ryr3 APN 2 112,731,250 (GRCm39) missense possibly damaging 0.59
IGL02452:Ryr3 APN 2 112,664,335 (GRCm39) missense probably damaging 1.00
IGL02453:Ryr3 APN 2 112,512,073 (GRCm39) splice site probably benign
IGL02585:Ryr3 APN 2 112,542,648 (GRCm39) missense probably damaging 1.00
IGL02724:Ryr3 APN 2 112,732,921 (GRCm39) critical splice donor site probably null
IGL02817:Ryr3 APN 2 112,674,968 (GRCm39) critical splice donor site probably null
IGL02861:Ryr3 APN 2 112,483,186 (GRCm39) missense possibly damaging 0.89
IGL03038:Ryr3 APN 2 112,498,465 (GRCm39) missense possibly damaging 0.83
IGL03059:Ryr3 APN 2 112,630,392 (GRCm39) missense probably damaging 1.00
IGL03136:Ryr3 APN 2 112,506,319 (GRCm39) splice site probably benign
IGL03137:Ryr3 APN 2 112,740,742 (GRCm39) missense probably benign
IGL03166:Ryr3 APN 2 112,471,457 (GRCm39) nonsense probably null
IGL03177:Ryr3 APN 2 112,859,016 (GRCm39) missense probably benign 0.39
IGL03205:Ryr3 APN 2 112,462,487 (GRCm39) missense probably damaging 1.00
IGL03224:Ryr3 APN 2 112,784,681 (GRCm39) nonsense probably null
IGL03249:Ryr3 APN 2 112,471,001 (GRCm39) missense probably benign 0.32
IGL03370:Ryr3 APN 2 112,586,944 (GRCm39) missense possibly damaging 0.69
intruder UTSW 2 112,502,591 (GRCm39) nonsense probably null
usurper UTSW 2 112,630,367 (GRCm39) missense probably damaging 1.00
ANU74:Ryr3 UTSW 2 112,661,575 (GRCm39) critical splice acceptor site probably null
BB006:Ryr3 UTSW 2 112,664,533 (GRCm39) missense probably benign 0.00
BB016:Ryr3 UTSW 2 112,664,533 (GRCm39) missense probably benign 0.00
F5426:Ryr3 UTSW 2 112,596,683 (GRCm39) splice site probably benign
PIT4494001:Ryr3 UTSW 2 112,672,221 (GRCm39) missense probably damaging 0.99
R0022:Ryr3 UTSW 2 112,471,011 (GRCm39) missense probably damaging 1.00
R0022:Ryr3 UTSW 2 112,471,011 (GRCm39) missense probably damaging 1.00
R0051:Ryr3 UTSW 2 112,699,420 (GRCm39) missense probably damaging 1.00
R0051:Ryr3 UTSW 2 112,699,420 (GRCm39) missense probably damaging 1.00
R0085:Ryr3 UTSW 2 112,690,108 (GRCm39) missense probably damaging 1.00
R0097:Ryr3 UTSW 2 112,630,400 (GRCm39) missense probably damaging 1.00
R0097:Ryr3 UTSW 2 112,630,400 (GRCm39) missense probably damaging 1.00
R0098:Ryr3 UTSW 2 112,731,376 (GRCm39) missense probably damaging 1.00
R0098:Ryr3 UTSW 2 112,731,376 (GRCm39) missense probably damaging 1.00
R0116:Ryr3 UTSW 2 112,633,510 (GRCm39) missense probably damaging 0.99
R0281:Ryr3 UTSW 2 112,517,155 (GRCm39) missense probably damaging 1.00
R0302:Ryr3 UTSW 2 112,477,468 (GRCm39) splice site probably benign
R0306:Ryr3 UTSW 2 112,606,000 (GRCm39) critical splice donor site probably null
R0445:Ryr3 UTSW 2 112,696,399 (GRCm39) missense probably benign 0.16
R0463:Ryr3 UTSW 2 112,492,046 (GRCm39) missense probably damaging 1.00
R0592:Ryr3 UTSW 2 112,508,826 (GRCm39) missense probably damaging 1.00
R0622:Ryr3 UTSW 2 112,492,900 (GRCm39) missense probably damaging 1.00
R0656:Ryr3 UTSW 2 112,478,651 (GRCm39) splice site probably benign
R0735:Ryr3 UTSW 2 112,563,327 (GRCm39) missense probably benign 0.11
R0783:Ryr3 UTSW 2 112,586,672 (GRCm39) splice site probably benign
R0789:Ryr3 UTSW 2 112,611,318 (GRCm39) splice site probably null
R0835:Ryr3 UTSW 2 112,480,483 (GRCm39) missense probably benign 0.16
R0879:Ryr3 UTSW 2 112,860,588 (GRCm39) missense probably benign 0.02
R0924:Ryr3 UTSW 2 112,672,178 (GRCm39) missense probably damaging 1.00
R0930:Ryr3 UTSW 2 112,672,178 (GRCm39) missense probably damaging 1.00
R0931:Ryr3 UTSW 2 112,484,047 (GRCm39) missense probably damaging 1.00
R1037:Ryr3 UTSW 2 112,699,453 (GRCm39) missense probably benign 0.42
R1169:Ryr3 UTSW 2 112,563,359 (GRCm39) missense probably benign 0.01
R1170:Ryr3 UTSW 2 112,777,332 (GRCm39) missense probably damaging 1.00
R1178:Ryr3 UTSW 2 112,794,725 (GRCm39) missense probably benign 0.00
R1187:Ryr3 UTSW 2 112,788,521 (GRCm39) missense probably damaging 1.00
R1289:Ryr3 UTSW 2 112,475,630 (GRCm39) missense probably damaging 1.00
R1337:Ryr3 UTSW 2 112,610,308 (GRCm39) missense possibly damaging 0.46
R1342:Ryr3 UTSW 2 112,581,148 (GRCm39) missense probably damaging 1.00
R1349:Ryr3 UTSW 2 112,664,546 (GRCm39) missense probably damaging 1.00
R1372:Ryr3 UTSW 2 112,664,546 (GRCm39) missense probably damaging 1.00
R1434:Ryr3 UTSW 2 112,475,604 (GRCm39) missense probably damaging 1.00
R1438:Ryr3 UTSW 2 112,588,046 (GRCm39) missense probably benign 0.18
R1467:Ryr3 UTSW 2 112,583,347 (GRCm39) splice site probably benign
R1470:Ryr3 UTSW 2 112,483,352 (GRCm39) missense probably benign
R1470:Ryr3 UTSW 2 112,483,352 (GRCm39) missense probably benign
R1474:Ryr3 UTSW 2 112,740,307 (GRCm39) missense probably damaging 1.00
R1481:Ryr3 UTSW 2 112,466,867 (GRCm39) splice site probably benign
R1513:Ryr3 UTSW 2 112,539,542 (GRCm39) nonsense probably null
R1524:Ryr3 UTSW 2 112,699,427 (GRCm39) missense probably damaging 0.98
R1525:Ryr3 UTSW 2 112,508,435 (GRCm39) missense probably damaging 1.00
R1526:Ryr3 UTSW 2 112,492,002 (GRCm39) missense probably damaging 1.00
R1611:Ryr3 UTSW 2 112,483,850 (GRCm39) missense possibly damaging 0.72
R1640:Ryr3 UTSW 2 112,731,178 (GRCm39) missense probably damaging 1.00
R1662:Ryr3 UTSW 2 112,539,618 (GRCm39) missense probably damaging 0.99
R1764:Ryr3 UTSW 2 112,690,805 (GRCm39) missense probably damaging 1.00
R1769:Ryr3 UTSW 2 112,582,113 (GRCm39) critical splice donor site probably null
R1776:Ryr3 UTSW 2 112,787,598 (GRCm39) missense probably damaging 0.99
R1780:Ryr3 UTSW 2 112,697,637 (GRCm39) missense probably damaging 0.98
R1840:Ryr3 UTSW 2 112,581,165 (GRCm39) missense probably damaging 1.00
R1864:Ryr3 UTSW 2 112,560,673 (GRCm39) missense possibly damaging 0.65
R1872:Ryr3 UTSW 2 112,539,482 (GRCm39) missense possibly damaging 0.94
R1960:Ryr3 UTSW 2 112,624,812 (GRCm39) missense probably damaging 1.00
R1994:Ryr3 UTSW 2 112,484,837 (GRCm39) missense probably null 0.93
R2018:Ryr3 UTSW 2 112,611,410 (GRCm39) missense probably benign 0.24
R2019:Ryr3 UTSW 2 112,611,410 (GRCm39) missense probably benign 0.24
R2029:Ryr3 UTSW 2 112,477,361 (GRCm39) missense possibly damaging 0.82
R2051:Ryr3 UTSW 2 112,586,986 (GRCm39) missense probably damaging 1.00
R2060:Ryr3 UTSW 2 112,784,709 (GRCm39) missense possibly damaging 0.92
R2061:Ryr3 UTSW 2 112,493,349 (GRCm39) missense possibly damaging 0.83
R2067:Ryr3 UTSW 2 112,777,302 (GRCm39) missense probably damaging 1.00
R2106:Ryr3 UTSW 2 112,468,474 (GRCm39) missense probably damaging 1.00
R2129:Ryr3 UTSW 2 112,508,715 (GRCm39) splice site probably benign
R2140:Ryr3 UTSW 2 112,705,493 (GRCm39) missense probably benign 0.01
R2176:Ryr3 UTSW 2 112,496,680 (GRCm39) missense possibly damaging 0.48
R2241:Ryr3 UTSW 2 112,631,737 (GRCm39) missense probably damaging 1.00
R2261:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R2262:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R2276:Ryr3 UTSW 2 112,479,664 (GRCm39) missense possibly damaging 0.79
R2279:Ryr3 UTSW 2 112,479,664 (GRCm39) missense possibly damaging 0.79
R2403:Ryr3 UTSW 2 112,516,973 (GRCm39) missense probably damaging 1.00
R2510:Ryr3 UTSW 2 112,506,249 (GRCm39) missense probably benign 0.18
R2568:Ryr3 UTSW 2 112,506,219 (GRCm39) missense probably damaging 1.00
R3013:Ryr3 UTSW 2 112,470,626 (GRCm39) missense probably damaging 1.00
R3431:Ryr3 UTSW 2 112,486,876 (GRCm39) missense probably damaging 1.00
R3552:Ryr3 UTSW 2 112,582,132 (GRCm39) missense probably damaging 1.00
R3761:Ryr3 UTSW 2 112,585,258 (GRCm39) missense probably benign
R3909:Ryr3 UTSW 2 112,466,953 (GRCm39) missense probably damaging 1.00
R3923:Ryr3 UTSW 2 112,672,218 (GRCm39) missense possibly damaging 0.92
R3924:Ryr3 UTSW 2 112,859,048 (GRCm39) splice site probably benign
R3927:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R3947:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R3949:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R3976:Ryr3 UTSW 2 112,506,182 (GRCm39) missense possibly damaging 0.49
R4004:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4022:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4084:Ryr3 UTSW 2 112,731,253 (GRCm39) missense probably damaging 0.99
R4106:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4108:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4109:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4131:Ryr3 UTSW 2 112,757,328 (GRCm39) splice site probably null
R4156:Ryr3 UTSW 2 112,484,020 (GRCm39) missense probably damaging 1.00
R4172:Ryr3 UTSW 2 112,624,815 (GRCm39) missense probably damaging 1.00
R4234:Ryr3 UTSW 2 112,740,752 (GRCm39) missense probably damaging 1.00
R4399:Ryr3 UTSW 2 112,777,189 (GRCm39) missense probably benign 0.01
R4409:Ryr3 UTSW 2 112,560,653 (GRCm39) missense probably damaging 1.00
R4418:Ryr3 UTSW 2 112,661,569 (GRCm39) missense probably damaging 1.00
R4466:Ryr3 UTSW 2 112,483,447 (GRCm39) missense possibly damaging 0.92
R4525:Ryr3 UTSW 2 112,483,966 (GRCm39) missense probably damaging 0.98
R4573:Ryr3 UTSW 2 112,585,519 (GRCm39) splice site probably null
R4589:Ryr3 UTSW 2 112,705,478 (GRCm39) missense probably damaging 1.00
R4653:Ryr3 UTSW 2 112,483,108 (GRCm39) missense probably damaging 1.00
R4664:Ryr3 UTSW 2 112,826,900 (GRCm39) intron probably benign
R4710:Ryr3 UTSW 2 112,596,646 (GRCm39) missense probably damaging 1.00
R4734:Ryr3 UTSW 2 112,740,847 (GRCm39) missense probably damaging 0.99
R4741:Ryr3 UTSW 2 112,633,613 (GRCm39) missense probably damaging 0.99
R4748:Ryr3 UTSW 2 112,794,750 (GRCm39) missense possibly damaging 0.95
R4749:Ryr3 UTSW 2 112,794,750 (GRCm39) missense possibly damaging 0.95
R4754:Ryr3 UTSW 2 112,587,984 (GRCm39) missense possibly damaging 0.94
R4764:Ryr3 UTSW 2 112,563,376 (GRCm39) critical splice acceptor site probably null
R4812:Ryr3 UTSW 2 112,742,581 (GRCm39) missense probably damaging 1.00
R4822:Ryr3 UTSW 2 112,483,090 (GRCm39) missense probably damaging 1.00
R4841:Ryr3 UTSW 2 112,478,718 (GRCm39) missense probably damaging 1.00
R4849:Ryr3 UTSW 2 112,738,807 (GRCm39) missense probably damaging 1.00
R4917:Ryr3 UTSW 2 112,661,530 (GRCm39) missense probably damaging 1.00
R4942:Ryr3 UTSW 2 112,666,602 (GRCm39) missense probably damaging 0.99
R4990:Ryr3 UTSW 2 112,740,318 (GRCm39) missense probably damaging 1.00
R4990:Ryr3 UTSW 2 112,466,122 (GRCm39) missense probably damaging 1.00
R5049:Ryr3 UTSW 2 112,470,516 (GRCm39) missense probably damaging 1.00
R5055:Ryr3 UTSW 2 112,661,504 (GRCm39) missense probably benign 0.00
R5112:Ryr3 UTSW 2 112,733,010 (GRCm39) missense probably damaging 1.00
R5160:Ryr3 UTSW 2 112,477,272 (GRCm39) missense probably damaging 1.00
R5169:Ryr3 UTSW 2 112,501,005 (GRCm39) missense possibly damaging 0.63
R5176:Ryr3 UTSW 2 112,588,012 (GRCm39) missense possibly damaging 0.95
R5182:Ryr3 UTSW 2 112,585,495 (GRCm39) missense probably damaging 1.00
R5206:Ryr3 UTSW 2 112,675,056 (GRCm39) missense probably damaging 1.00
R5263:Ryr3 UTSW 2 112,548,347 (GRCm39) missense possibly damaging 0.65
R5272:Ryr3 UTSW 2 112,483,558 (GRCm39) missense probably damaging 1.00
R5332:Ryr3 UTSW 2 112,733,038 (GRCm39) missense probably damaging 1.00
R5340:Ryr3 UTSW 2 112,664,470 (GRCm39) missense probably damaging 0.99
R5359:Ryr3 UTSW 2 112,606,186 (GRCm39) splice site probably null
R5434:Ryr3 UTSW 2 112,624,814 (GRCm39) missense probably damaging 1.00
R5454:Ryr3 UTSW 2 112,560,647 (GRCm39) splice site probably null
R5501:Ryr3 UTSW 2 112,492,849 (GRCm39) missense possibly damaging 0.80
R5560:Ryr3 UTSW 2 112,585,222 (GRCm39) missense probably damaging 1.00
R5580:Ryr3 UTSW 2 112,672,293 (GRCm39) missense probably damaging 1.00
R5621:Ryr3 UTSW 2 112,731,329 (GRCm39) nonsense probably null
R5731:Ryr3 UTSW 2 112,471,917 (GRCm39) missense probably damaging 1.00
R5757:Ryr3 UTSW 2 112,672,320 (GRCm39) missense probably damaging 1.00
R5758:Ryr3 UTSW 2 112,672,320 (GRCm39) missense probably damaging 1.00
R5768:Ryr3 UTSW 2 112,583,442 (GRCm39) missense probably benign 0.05
R5783:Ryr3 UTSW 2 112,483,343 (GRCm39) missense probably benign 0.06
R5799:Ryr3 UTSW 2 112,516,925 (GRCm39) missense probably damaging 1.00
R5829:Ryr3 UTSW 2 112,690,076 (GRCm39) missense probably damaging 1.00
R5883:Ryr3 UTSW 2 112,860,637 (GRCm39) intron probably benign
R5911:Ryr3 UTSW 2 112,738,832 (GRCm39) missense probably damaging 1.00
R5968:Ryr3 UTSW 2 112,477,394 (GRCm39) missense probably benign 0.22
R5972:Ryr3 UTSW 2 112,664,409 (GRCm39) missense probably damaging 0.99
R5978:Ryr3 UTSW 2 112,502,614 (GRCm39) missense probably benign 0.00
R6084:Ryr3 UTSW 2 112,738,838 (GRCm39) missense probably damaging 1.00
R6117:Ryr3 UTSW 2 112,465,741 (GRCm39) missense probably damaging 1.00
R6126:Ryr3 UTSW 2 112,588,015 (GRCm39) missense probably damaging 1.00
R6128:Ryr3 UTSW 2 112,784,639 (GRCm39) critical splice donor site probably null
R6157:Ryr3 UTSW 2 112,672,244 (GRCm39) missense probably damaging 0.98
R6258:Ryr3 UTSW 2 112,490,449 (GRCm39) missense probably damaging 1.00
R6260:Ryr3 UTSW 2 112,490,449 (GRCm39) missense probably damaging 1.00
R6373:Ryr3 UTSW 2 112,486,889 (GRCm39) missense probably damaging 1.00
R6377:Ryr3 UTSW 2 112,462,530 (GRCm39) missense probably damaging 1.00
R6443:Ryr3 UTSW 2 112,506,278 (GRCm39) missense possibly damaging 0.88
R6478:Ryr3 UTSW 2 112,490,413 (GRCm39) missense probably damaging 1.00
R6512:Ryr3 UTSW 2 112,697,723 (GRCm39) missense possibly damaging 0.83
R6684:Ryr3 UTSW 2 112,583,433 (GRCm39) missense probably damaging 1.00
R6753:Ryr3 UTSW 2 112,482,955 (GRCm39) missense probably damaging 0.99
R6812:Ryr3 UTSW 2 112,777,251 (GRCm39) missense probably damaging 1.00
R6910:Ryr3 UTSW 2 112,788,520 (GRCm39) missense probably damaging 1.00
R6930:Ryr3 UTSW 2 112,690,699 (GRCm39) missense probably damaging 1.00
R6946:Ryr3 UTSW 2 112,661,545 (GRCm39) missense probably damaging 1.00
R6950:Ryr3 UTSW 2 112,517,170 (GRCm39) missense possibly damaging 0.78
R6973:Ryr3 UTSW 2 112,596,656 (GRCm39) missense probably damaging 0.99
R6984:Ryr3 UTSW 2 112,705,436 (GRCm39) missense probably damaging 1.00
R7020:Ryr3 UTSW 2 112,583,423 (GRCm39) missense probably benign 0.00
R7037:Ryr3 UTSW 2 112,779,475 (GRCm39) nonsense probably null
R7166:Ryr3 UTSW 2 112,705,373 (GRCm39) missense probably damaging 1.00
R7172:Ryr3 UTSW 2 112,492,002 (GRCm39) missense probably damaging 1.00
R7177:Ryr3 UTSW 2 112,731,188 (GRCm39) missense probably damaging 1.00
R7188:Ryr3 UTSW 2 112,858,989 (GRCm39) missense probably damaging 1.00
R7202:Ryr3 UTSW 2 112,596,664 (GRCm39) missense probably damaging 1.00
R7228:Ryr3 UTSW 2 112,692,197 (GRCm39) missense probably damaging 1.00
R7256:Ryr3 UTSW 2 112,502,591 (GRCm39) nonsense probably null
R7293:Ryr3 UTSW 2 112,732,948 (GRCm39) missense probably benign 0.13
R7331:Ryr3 UTSW 2 112,594,010 (GRCm39) missense possibly damaging 0.80
R7380:Ryr3 UTSW 2 112,470,502 (GRCm39) missense probably damaging 1.00
R7391:Ryr3 UTSW 2 112,611,322 (GRCm39) critical splice donor site probably null
R7455:Ryr3 UTSW 2 112,559,211 (GRCm39) missense probably damaging 0.99
R7466:Ryr3 UTSW 2 112,757,302 (GRCm39) missense probably benign 0.40
R7481:Ryr3 UTSW 2 112,508,439 (GRCm39) missense possibly damaging 0.95
R7481:Ryr3 UTSW 2 112,508,438 (GRCm39) missense probably benign 0.16
R7497:Ryr3 UTSW 2 112,560,818 (GRCm39) missense probably benign 0.06
R7502:Ryr3 UTSW 2 112,542,706 (GRCm39) missense probably benign 0.00
R7505:Ryr3 UTSW 2 112,542,774 (GRCm39) missense probably damaging 0.99
R7581:Ryr3 UTSW 2 112,583,372 (GRCm39) missense probably damaging 0.99
R7606:Ryr3 UTSW 2 112,475,590 (GRCm39) nonsense probably null
R7677:Ryr3 UTSW 2 112,664,245 (GRCm39) missense probably benign
R7703:Ryr3 UTSW 2 112,690,110 (GRCm39) missense probably damaging 1.00
R7713:Ryr3 UTSW 2 112,465,691 (GRCm39) missense probably benign 0.12
R7784:Ryr3 UTSW 2 112,606,040 (GRCm39) missense probably damaging 1.00
R7831:Ryr3 UTSW 2 112,757,183 (GRCm39) missense possibly damaging 0.92
R7851:Ryr3 UTSW 2 112,508,862 (GRCm39) missense probably benign 0.05
R7873:Ryr3 UTSW 2 112,560,773 (GRCm39) missense probably benign 0.28
R7890:Ryr3 UTSW 2 112,757,257 (GRCm39) missense probably damaging 1.00
R7899:Ryr3 UTSW 2 112,477,295 (GRCm39) missense possibly damaging 0.86
R7904:Ryr3 UTSW 2 112,611,369 (GRCm39) missense probably damaging 1.00
R7929:Ryr3 UTSW 2 112,664,533 (GRCm39) missense probably benign 0.00
R7982:Ryr3 UTSW 2 112,499,594 (GRCm39) small deletion probably benign
R8018:Ryr3 UTSW 2 112,508,777 (GRCm39) missense probably damaging 1.00
R8043:Ryr3 UTSW 2 112,705,422 (GRCm39) missense probably damaging 1.00
R8043:Ryr3 UTSW 2 112,606,009 (GRCm39) missense probably damaging 1.00
R8095:Ryr3 UTSW 2 112,498,388 (GRCm39) critical splice donor site probably null
R8097:Ryr3 UTSW 2 112,500,615 (GRCm39) splice site probably null
R8181:Ryr3 UTSW 2 112,608,588 (GRCm39) missense probably damaging 0.98
R8276:Ryr3 UTSW 2 112,470,962 (GRCm39) missense probably damaging 1.00
R8329:Ryr3 UTSW 2 112,492,855 (GRCm39) missense possibly damaging 0.94
R8345:Ryr3 UTSW 2 112,483,270 (GRCm39) missense probably benign 0.01
R8361:Ryr3 UTSW 2 112,483,475 (GRCm39) missense probably damaging 0.98
R8421:Ryr3 UTSW 2 112,826,929 (GRCm39) missense probably benign 0.00
R8424:Ryr3 UTSW 2 112,672,239 (GRCm39) missense possibly damaging 0.91
R8471:Ryr3 UTSW 2 112,484,125 (GRCm39) missense probably damaging 1.00
R8505:Ryr3 UTSW 2 112,506,215 (GRCm39) missense probably damaging 0.98
R8535:Ryr3 UTSW 2 112,779,433 (GRCm39) critical splice donor site probably null
R8540:Ryr3 UTSW 2 112,630,367 (GRCm39) missense probably damaging 1.00
R8722:Ryr3 UTSW 2 112,603,116 (GRCm39) missense probably benign 0.12
R8818:Ryr3 UTSW 2 112,661,441 (GRCm39) missense probably damaging 1.00
R8819:Ryr3 UTSW 2 112,690,069 (GRCm39) missense probably benign 0.01
R8819:Ryr3 UTSW 2 112,466,137 (GRCm39) missense probably damaging 1.00
R8820:Ryr3 UTSW 2 112,690,069 (GRCm39) missense probably benign 0.01
R8820:Ryr3 UTSW 2 112,466,137 (GRCm39) missense probably damaging 1.00
R8852:Ryr3 UTSW 2 112,624,844 (GRCm39) missense probably damaging 1.00
R8859:Ryr3 UTSW 2 112,483,564 (GRCm39) missense probably damaging 0.98
R8896:Ryr3 UTSW 2 112,583,395 (GRCm39) nonsense probably null
R8916:Ryr3 UTSW 2 112,608,635 (GRCm39) missense probably damaging 1.00
R8935:Ryr3 UTSW 2 112,508,402 (GRCm39) missense probably benign 0.33
R8963:Ryr3 UTSW 2 112,667,015 (GRCm39) critical splice donor site probably null
R8974:Ryr3 UTSW 2 112,742,624 (GRCm39) missense possibly damaging 0.74
R9008:Ryr3 UTSW 2 112,465,748 (GRCm39) missense probably damaging 0.98
R9040:Ryr3 UTSW 2 112,784,731 (GRCm39) missense probably damaging 1.00
R9041:Ryr3 UTSW 2 112,787,546 (GRCm39) missense probably damaging 0.97
R9102:Ryr3 UTSW 2 112,508,906 (GRCm39) splice site probably benign
R9167:Ryr3 UTSW 2 112,664,398 (GRCm39) missense probably damaging 1.00
R9180:Ryr3 UTSW 2 112,491,981 (GRCm39) missense probably damaging 0.99
R9219:Ryr3 UTSW 2 112,742,584 (GRCm39) missense possibly damaging 0.62
R9258:Ryr3 UTSW 2 112,483,364 (GRCm39) missense probably damaging 0.99
R9300:Ryr3 UTSW 2 112,690,695 (GRCm39) missense probably benign
R9320:Ryr3 UTSW 2 112,610,336 (GRCm39) missense probably damaging 1.00
R9325:Ryr3 UTSW 2 112,479,640 (GRCm39) missense probably damaging 0.96
R9405:Ryr3 UTSW 2 112,664,612 (GRCm39) missense probably damaging 1.00
R9414:Ryr3 UTSW 2 112,501,011 (GRCm39) missense possibly damaging 0.81
R9489:Ryr3 UTSW 2 112,491,966 (GRCm39) missense probably damaging 1.00
R9522:Ryr3 UTSW 2 112,560,759 (GRCm39) missense probably benign 0.34
R9526:Ryr3 UTSW 2 112,664,270 (GRCm39) missense probably benign
R9529:Ryr3 UTSW 2 112,465,660 (GRCm39) missense possibly damaging 0.70
R9605:Ryr3 UTSW 2 112,491,966 (GRCm39) missense probably damaging 1.00
R9652:Ryr3 UTSW 2 112,635,047 (GRCm39) missense possibly damaging 0.66
R9660:Ryr3 UTSW 2 112,664,074 (GRCm39) missense probably benign
R9670:Ryr3 UTSW 2 112,560,845 (GRCm39) missense probably benign 0.28
R9673:Ryr3 UTSW 2 112,486,883 (GRCm39) missense possibly damaging 0.93
R9710:Ryr3 UTSW 2 112,633,534 (GRCm39) missense probably damaging 0.99
R9741:Ryr3 UTSW 2 112,477,271 (GRCm39) missense probably benign 0.00
R9772:Ryr3 UTSW 2 112,657,048 (GRCm39) missense probably damaging 0.96
RF010:Ryr3 UTSW 2 112,606,015 (GRCm39) missense probably damaging 0.97
RF040:Ryr3 UTSW 2 112,740,869 (GRCm39) critical splice acceptor site probably benign
RF044:Ryr3 UTSW 2 112,740,869 (GRCm39) critical splice acceptor site probably benign
X0057:Ryr3 UTSW 2 112,470,504 (GRCm39) missense probably damaging 1.00
X0064:Ryr3 UTSW 2 112,742,647 (GRCm39) missense probably benign 0.26
Z1088:Ryr3 UTSW 2 112,731,261 (GRCm39) missense probably damaging 1.00
Z1176:Ryr3 UTSW 2 112,559,269 (GRCm39) missense probably benign 0.01
Z1176:Ryr3 UTSW 2 112,542,719 (GRCm39) missense probably damaging 1.00
Z1176:Ryr3 UTSW 2 112,506,265 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AATGGGGTCTAGGCATGGATC -3'
(R):5'- AGTAAATGTCTAAGAGCCCAAAGC -3'

Sequencing Primer
(F):5'- GTTGTTTCCAGTGCATAGAGAGAAC -3'
(R):5'- GCATTAAACAGAAAAGTTTCCCATG -3'
Posted On 2021-08-31