Incidental Mutation 'R3551:Ryr1'
ID 268340
Institutional Source Beutler Lab
Gene Symbol Ryr1
Ensembl Gene ENSMUSG00000030592
Gene Name ryanodine receptor 1, skeletal muscle
Synonyms skrr, calcium release channel isoform 1, Ryr
MMRRC Submission 040668-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3551 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 29003344-29125179 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29056997 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 3464 (Q3464L)
Ref Sequence ENSEMBL: ENSMUSP00000149042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032813] [ENSMUST00000179893] [ENSMUST00000214374]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032813
AA Change: Q3457L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032813
Gene: ENSMUSG00000030592
AA Change: Q3457L

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
MIR 99 154 7.52e-4 SMART
MIR 161 206 1.11e-6 SMART
MIR 212 266 1.23e-8 SMART
MIR 272 362 1.05e-25 SMART
Pfam:RYDR_ITPR 441 645 1.2e-73 PFAM
SPRY 660 798 2.79e-27 SMART
Pfam:RyR 851 945 6.5e-33 PFAM
Pfam:RyR 965 1059 1.5e-30 PFAM
SPRY 1086 1209 8.62e-42 SMART
low complexity region 1318 1332 N/A INTRINSIC
low complexity region 1340 1349 N/A INTRINSIC
SPRY 1431 1571 3.05e-33 SMART
low complexity region 1787 1798 N/A INTRINSIC
coiled coil region 1871 1932 N/A INTRINSIC
low complexity region 1989 1998 N/A INTRINSIC
low complexity region 2048 2057 N/A INTRINSIC
low complexity region 2069 2092 N/A INTRINSIC
Pfam:RYDR_ITPR 2158 2366 7e-66 PFAM
low complexity region 2390 2404 N/A INTRINSIC
Pfam:RyR 2735 2829 9.7e-34 PFAM
Pfam:RyR 2855 2943 5.7e-32 PFAM
low complexity region 3130 3144 N/A INTRINSIC
low complexity region 3290 3304 N/A INTRINSIC
low complexity region 3375 3394 N/A INTRINSIC
PDB:2BCX|B 3613 3642 2e-13 PDB
low complexity region 3681 3691 N/A INTRINSIC
low complexity region 3735 3760 N/A INTRINSIC
Pfam:RIH_assoc 3872 4004 1.9e-41 PFAM
low complexity region 4010 4023 N/A INTRINSIC
Pfam:EF-hand_8 4085 4136 9.8e-8 PFAM
transmembrane domain 4283 4305 N/A INTRINSIC
transmembrane domain 4318 4336 N/A INTRINSIC
transmembrane domain 4341 4363 N/A INTRINSIC
Pfam:RR_TM4-6 4377 4666 2e-86 PFAM
Pfam:Ion_trans 4761 4932 3.4e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179893
AA Change: Q3457L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137123
Gene: ENSMUSG00000030592
AA Change: Q3457L

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
MIR 99 154 7.52e-4 SMART
MIR 161 206 1.11e-6 SMART
MIR 212 266 1.23e-8 SMART
MIR 272 362 1.05e-25 SMART
Pfam:RYDR_ITPR 443 638 4.5e-63 PFAM
SPRY 660 798 2.79e-27 SMART
Pfam:RyR 852 942 1.3e-37 PFAM
Pfam:RyR 966 1056 1.6e-28 PFAM
SPRY 1086 1209 8.62e-42 SMART
low complexity region 1318 1332 N/A INTRINSIC
low complexity region 1340 1349 N/A INTRINSIC
SPRY 1431 1571 3.05e-33 SMART
low complexity region 1787 1798 N/A INTRINSIC
coiled coil region 1871 1932 N/A INTRINSIC
low complexity region 1989 1998 N/A INTRINSIC
low complexity region 2048 2057 N/A INTRINSIC
low complexity region 2069 2092 N/A INTRINSIC
Pfam:RYDR_ITPR 2160 2366 2.2e-68 PFAM
low complexity region 2390 2404 N/A INTRINSIC
Pfam:RyR 2736 2826 7.2e-31 PFAM
Pfam:RyR 2856 2940 5.6e-27 PFAM
low complexity region 3130 3144 N/A INTRINSIC
low complexity region 3290 3304 N/A INTRINSIC
low complexity region 3375 3394 N/A INTRINSIC
PDB:2BCX|B 3615 3644 2e-13 PDB
low complexity region 3683 3693 N/A INTRINSIC
low complexity region 3737 3762 N/A INTRINSIC
Pfam:RIH_assoc 3878 3996 6.2e-35 PFAM
low complexity region 4012 4025 N/A INTRINSIC
Pfam:EF-hand_8 4087 4137 1.8e-8 PFAM
transmembrane domain 4285 4307 N/A INTRINSIC
transmembrane domain 4320 4338 N/A INTRINSIC
transmembrane domain 4343 4365 N/A INTRINSIC
Pfam:RR_TM4-6 4379 4668 8.4e-76 PFAM
Pfam:Ion_trans 4763 4946 2.8e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214374
AA Change: Q3464L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,261,624 Y866N probably damaging Het
Adam24 G C 8: 40,679,593 W33C probably benign Het
Adgrl2 A T 3: 148,858,963 V327E probably damaging Het
Aqp7 T A 4: 41,045,329 N17I probably benign Het
Bicra T A 7: 15,979,733 Q848L probably benign Het
C4b T C 17: 34,741,872 E240G possibly damaging Het
Ccni T C 5: 93,187,761 S173G probably benign Het
Clca3a2 T A 3: 144,803,081 N50I probably damaging Het
Dcaf7 A G 11: 106,054,796 T324A probably benign Het
Dnah12 G A 14: 26,770,972 R1230H probably benign Het
Dsg4 G A 18: 20,451,756 V176M probably damaging Het
Ect2l A G 10: 18,163,393 I339T probably damaging Het
Edc4 A T 8: 105,885,494 I138F probably damaging Het
Ercc6l2 T A 13: 63,844,595 V401E probably damaging Het
Gm3269 T A 14: 4,845,893 V260D possibly damaging Het
Gm4076 C T 13: 85,127,150 noncoding transcript Het
Gm4922 A T 10: 18,784,496 N159K probably benign Het
Gm5134 G T 10: 76,000,447 A421S probably benign Het
Gm5724 T C 6: 141,708,596 K647E probably benign Het
Hrc G C 7: 45,336,333 E303Q possibly damaging Het
Ipo4 A G 14: 55,633,103 V288A probably benign Het
Kng2 A G 16: 23,011,995 probably null Het
Lrfn1 T C 7: 28,460,054 L466P possibly damaging Het
Magi1 T A 6: 93,699,629 K916N probably damaging Het
Mms19 T C 19: 41,949,798 T720A probably benign Het
Muc5b A G 7: 141,861,335 T2673A possibly damaging Het
Myo15 C T 11: 60,509,663 A1767V possibly damaging Het
Npas2 A T 1: 39,287,562 M43L probably benign Het
Nup43 A G 10: 7,675,014 D216G possibly damaging Het
Olfr378 T C 11: 73,425,852 I44V probably benign Het
Orc4 G A 2: 48,937,489 P31S probably benign Het
Pcdhga6 G T 18: 37,708,217 R330L probably benign Het
Pear1 A G 3: 87,758,132 F145L probably benign Het
Pgap1 A G 1: 54,530,143 S355P possibly damaging Het
Prr14l A T 5: 32,828,619 probably null Het
Ptpn12 T C 5: 20,989,049 K742E possibly damaging Het
Sema4c G C 1: 36,553,723 T138S probably benign Het
Slc4a2 C T 5: 24,430,101 T168M probably benign Het
Spice1 G T 16: 44,357,869 S85I probably damaging Het
Thrb T A 14: 17,963,214 I59N probably damaging Het
Trav7-1 A G 14: 52,655,299 D103G probably damaging Het
Ubap2l G T 3: 90,015,451 T766N unknown Het
Zfp692 C T 11: 58,309,428 T170I possibly damaging Het
Zfp704 A G 3: 9,474,525 V255A probably damaging Het
Zfp759 T C 13: 67,138,967 V194A probably benign Het
Other mutations in Ryr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ryr1 APN 7 29,102,810 (GRCm38) missense probably damaging 1.00
IGL00335:Ryr1 APN 7 29,124,960 (GRCm38) splice site probably null
IGL00427:Ryr1 APN 7 29,104,737 (GRCm38) splice site probably benign
IGL00559:Ryr1 APN 7 29,012,242 (GRCm38) splice site probably benign
IGL00803:Ryr1 APN 7 29,069,645 (GRCm38) missense possibly damaging 0.95
IGL00886:Ryr1 APN 7 29,024,229 (GRCm38) missense probably damaging 1.00
IGL00948:Ryr1 APN 7 29,020,195 (GRCm38) missense possibly damaging 0.78
IGL01017:Ryr1 APN 7 29,082,543 (GRCm38) missense probably damaging 0.99
IGL01116:Ryr1 APN 7 29,100,202 (GRCm38) splice site probably benign
IGL01385:Ryr1 APN 7 29,056,985 (GRCm38) missense probably damaging 1.00
IGL01482:Ryr1 APN 7 29,052,337 (GRCm38) missense probably damaging 1.00
IGL01529:Ryr1 APN 7 29,075,227 (GRCm38) missense probably damaging 1.00
IGL01543:Ryr1 APN 7 29,091,076 (GRCm38) missense probably damaging 1.00
IGL01653:Ryr1 APN 7 29,078,597 (GRCm38) missense probably damaging 0.99
IGL01701:Ryr1 APN 7 29,059,810 (GRCm38) missense probably damaging 0.98
IGL02051:Ryr1 APN 7 29,071,658 (GRCm38) missense probably benign 0.16
IGL02152:Ryr1 APN 7 29,052,015 (GRCm38) missense possibly damaging 0.95
IGL02271:Ryr1 APN 7 29,094,047 (GRCm38) missense probably benign 0.07
IGL02321:Ryr1 APN 7 29,078,696 (GRCm38) missense probably damaging 1.00
IGL02448:Ryr1 APN 7 29,105,066 (GRCm38) splice site probably benign
IGL02472:Ryr1 APN 7 29,040,844 (GRCm38) missense probably damaging 1.00
IGL02544:Ryr1 APN 7 29,115,599 (GRCm38) missense probably benign 0.24
IGL02666:Ryr1 APN 7 29,019,763 (GRCm38) missense unknown
IGL02672:Ryr1 APN 7 29,004,519 (GRCm38) unclassified probably benign
IGL02677:Ryr1 APN 7 29,110,608 (GRCm38) missense probably benign 0.18
IGL02686:Ryr1 APN 7 29,069,550 (GRCm38) splice site probably benign
IGL02751:Ryr1 APN 7 29,078,774 (GRCm38) missense probably damaging 1.00
IGL02899:Ryr1 APN 7 29,048,795 (GRCm38) missense possibly damaging 0.53
IGL02926:Ryr1 APN 7 29,061,540 (GRCm38) missense probably damaging 1.00
IGL02950:Ryr1 APN 7 29,097,459 (GRCm38) missense probably damaging 1.00
IGL02960:Ryr1 APN 7 29,060,053 (GRCm38) missense probably damaging 1.00
IGL02968:Ryr1 APN 7 29,043,893 (GRCm38) missense probably damaging 1.00
IGL03070:Ryr1 APN 7 29,070,659 (GRCm38) missense probably damaging 1.00
IGL03091:Ryr1 APN 7 29,083,486 (GRCm38) missense possibly damaging 0.85
IGL03100:Ryr1 APN 7 29,104,593 (GRCm38) missense probably damaging 1.00
IGL03107:Ryr1 APN 7 29,075,199 (GRCm38) missense probably damaging 1.00
IGL03117:Ryr1 APN 7 29,102,964 (GRCm38) missense probably damaging 1.00
IGL03118:Ryr1 APN 7 29,015,786 (GRCm38) missense unknown
IGL03146:Ryr1 APN 7 29,094,032 (GRCm38) missense probably benign 0.09
IGL03165:Ryr1 APN 7 29,105,040 (GRCm38) missense probably benign 0.22
IGL03220:Ryr1 APN 7 29,059,855 (GRCm38) missense probably damaging 1.00
R0017:Ryr1 UTSW 7 29,047,542 (GRCm38) missense probably damaging 1.00
R0066:Ryr1 UTSW 7 29,005,567 (GRCm38) unclassified probably benign
R0066:Ryr1 UTSW 7 29,005,567 (GRCm38) unclassified probably benign
R0069:Ryr1 UTSW 7 29,110,505 (GRCm38) splice site probably benign
R0148:Ryr1 UTSW 7 29,052,035 (GRCm38) missense probably damaging 0.99
R0266:Ryr1 UTSW 7 29,040,679 (GRCm38) missense probably damaging 1.00
R0346:Ryr1 UTSW 7 29,067,588 (GRCm38) splice site probably benign
R0387:Ryr1 UTSW 7 29,083,367 (GRCm38) splice site probably benign
R0454:Ryr1 UTSW 7 29,036,075 (GRCm38) missense probably damaging 0.99
R0494:Ryr1 UTSW 7 29,003,793 (GRCm38) splice site probably benign
R0533:Ryr1 UTSW 7 29,078,780 (GRCm38) missense probably damaging 1.00
R0585:Ryr1 UTSW 7 29,036,076 (GRCm38) missense probably damaging 1.00
R0591:Ryr1 UTSW 7 29,104,795 (GRCm38) missense possibly damaging 0.68
R0624:Ryr1 UTSW 7 29,074,609 (GRCm38) missense probably damaging 1.00
R0662:Ryr1 UTSW 7 29,100,189 (GRCm38) missense probably damaging 1.00
R0849:Ryr1 UTSW 7 29,040,679 (GRCm38) missense probably damaging 1.00
R0961:Ryr1 UTSW 7 29,009,697 (GRCm38) missense unknown
R1052:Ryr1 UTSW 7 29,096,258 (GRCm38) missense probably damaging 0.96
R1218:Ryr1 UTSW 7 29,086,109 (GRCm38) missense possibly damaging 0.79
R1340:Ryr1 UTSW 7 29,116,012 (GRCm38) missense probably damaging 0.99
R1513:Ryr1 UTSW 7 29,070,621 (GRCm38) missense probably damaging 1.00
R1543:Ryr1 UTSW 7 29,083,537 (GRCm38) missense possibly damaging 0.67
R1566:Ryr1 UTSW 7 29,092,175 (GRCm38) missense possibly damaging 0.95
R1572:Ryr1 UTSW 7 29,062,191 (GRCm38) missense probably damaging 1.00
R1623:Ryr1 UTSW 7 29,095,490 (GRCm38) missense probably damaging 1.00
R1632:Ryr1 UTSW 7 29,094,261 (GRCm38) missense probably benign 0.03
R1661:Ryr1 UTSW 7 29,101,738 (GRCm38) missense probably damaging 0.98
R1665:Ryr1 UTSW 7 29,036,078 (GRCm38) missense probably damaging 1.00
R1678:Ryr1 UTSW 7 29,116,154 (GRCm38) missense probably damaging 0.99
R1705:Ryr1 UTSW 7 29,078,564 (GRCm38) missense probably damaging 1.00
R1712:Ryr1 UTSW 7 29,047,503 (GRCm38) missense probably benign 0.25
R1720:Ryr1 UTSW 7 29,101,870 (GRCm38) missense probably damaging 0.99
R1799:Ryr1 UTSW 7 29,067,621 (GRCm38) missense probably damaging 1.00
R1847:Ryr1 UTSW 7 29,079,811 (GRCm38) missense probably benign 0.43
R1860:Ryr1 UTSW 7 29,009,552 (GRCm38) missense unknown
R1861:Ryr1 UTSW 7 29,009,552 (GRCm38) missense unknown
R1921:Ryr1 UTSW 7 29,054,944 (GRCm38) missense probably damaging 1.00
R1983:Ryr1 UTSW 7 29,059,472 (GRCm38) missense possibly damaging 0.74
R2043:Ryr1 UTSW 7 29,059,631 (GRCm38) missense probably damaging 0.99
R2089:Ryr1 UTSW 7 29,086,049 (GRCm38) missense probably damaging 1.00
R2091:Ryr1 UTSW 7 29,086,049 (GRCm38) missense probably damaging 1.00
R2091:Ryr1 UTSW 7 29,086,049 (GRCm38) missense probably damaging 1.00
R2105:Ryr1 UTSW 7 29,090,150 (GRCm38) missense probably damaging 0.99
R2175:Ryr1 UTSW 7 29,068,442 (GRCm38) missense probably damaging 1.00
R2259:Ryr1 UTSW 7 29,019,741 (GRCm38) missense unknown
R2291:Ryr1 UTSW 7 29,098,777 (GRCm38) missense probably damaging 1.00
R2351:Ryr1 UTSW 7 29,075,293 (GRCm38) missense probably benign 0.18
R2512:Ryr1 UTSW 7 29,103,542 (GRCm38) missense possibly damaging 0.64
R2571:Ryr1 UTSW 7 29,036,126 (GRCm38) missense possibly damaging 0.94
R2571:Ryr1 UTSW 7 29,009,562 (GRCm38) missense unknown
R2885:Ryr1 UTSW 7 29,074,798 (GRCm38) missense probably damaging 0.99
R2886:Ryr1 UTSW 7 29,074,798 (GRCm38) missense probably damaging 0.99
R2889:Ryr1 UTSW 7 29,078,741 (GRCm38) missense possibly damaging 0.76
R3051:Ryr1 UTSW 7 29,053,090 (GRCm38) missense probably damaging 1.00
R3052:Ryr1 UTSW 7 29,053,090 (GRCm38) missense probably damaging 1.00
R3053:Ryr1 UTSW 7 29,053,090 (GRCm38) missense probably damaging 1.00
R3082:Ryr1 UTSW 7 29,045,646 (GRCm38) missense probably damaging 1.00
R3103:Ryr1 UTSW 7 29,074,948 (GRCm38) missense probably damaging 1.00
R3237:Ryr1 UTSW 7 29,069,650 (GRCm38) critical splice acceptor site probably null
R3552:Ryr1 UTSW 7 29,056,997 (GRCm38) missense probably damaging 1.00
R3807:Ryr1 UTSW 7 29,020,152 (GRCm38) missense probably damaging 1.00
R3815:Ryr1 UTSW 7 29,072,902 (GRCm38) missense probably damaging 0.98
R4010:Ryr1 UTSW 7 29,095,124 (GRCm38) missense probably benign 0.41
R4041:Ryr1 UTSW 7 29,085,931 (GRCm38) missense possibly damaging 0.77
R4226:Ryr1 UTSW 7 29,062,151 (GRCm38) nonsense probably null
R4257:Ryr1 UTSW 7 29,082,450 (GRCm38) missense possibly damaging 0.93
R4328:Ryr1 UTSW 7 29,083,059 (GRCm38) missense probably damaging 1.00
R4394:Ryr1 UTSW 7 29,094,242 (GRCm38) missense possibly damaging 0.69
R4485:Ryr1 UTSW 7 29,090,156 (GRCm38) missense probably damaging 0.97
R4550:Ryr1 UTSW 7 29,098,735 (GRCm38) missense probably benign 0.05
R4554:Ryr1 UTSW 7 29,105,008 (GRCm38) missense probably benign 0.03
R4562:Ryr1 UTSW 7 29,074,580 (GRCm38) intron probably benign
R4642:Ryr1 UTSW 7 29,086,038 (GRCm38) missense possibly damaging 0.91
R4669:Ryr1 UTSW 7 29,059,831 (GRCm38) missense probably null 0.99
R4707:Ryr1 UTSW 7 29,045,662 (GRCm38) missense probably damaging 1.00
R4766:Ryr1 UTSW 7 29,085,833 (GRCm38) missense probably damaging 0.96
R4768:Ryr1 UTSW 7 29,004,821 (GRCm38) unclassified probably benign
R4770:Ryr1 UTSW 7 29,109,282 (GRCm38) missense probably damaging 0.99
R4780:Ryr1 UTSW 7 29,095,097 (GRCm38) missense possibly damaging 0.85
R4927:Ryr1 UTSW 7 29,019,983 (GRCm38) missense unknown
R4933:Ryr1 UTSW 7 29,104,298 (GRCm38) missense probably damaging 1.00
R4934:Ryr1 UTSW 7 29,068,095 (GRCm38) missense probably damaging 1.00
R4942:Ryr1 UTSW 7 29,069,573 (GRCm38) missense probably damaging 0.98
R4960:Ryr1 UTSW 7 29,078,783 (GRCm38) missense possibly damaging 0.82
R5007:Ryr1 UTSW 7 29,069,115 (GRCm38) missense probably damaging 1.00
R5011:Ryr1 UTSW 7 29,102,809 (GRCm38) splice site probably null
R5013:Ryr1 UTSW 7 29,102,809 (GRCm38) splice site probably null
R5137:Ryr1 UTSW 7 29,101,858 (GRCm38) missense possibly damaging 0.94
R5167:Ryr1 UTSW 7 29,067,693 (GRCm38) missense probably damaging 1.00
R5239:Ryr1 UTSW 7 29,036,128 (GRCm38) missense probably damaging 1.00
R5291:Ryr1 UTSW 7 29,115,598 (GRCm38) missense probably benign 0.03
R5303:Ryr1 UTSW 7 29,068,482 (GRCm38) missense probably damaging 1.00
R5386:Ryr1 UTSW 7 29,117,416 (GRCm38) missense probably damaging 0.98
R5431:Ryr1 UTSW 7 29,109,812 (GRCm38) missense probably benign 0.39
R5460:Ryr1 UTSW 7 29,071,961 (GRCm38) missense probably damaging 1.00
R5463:Ryr1 UTSW 7 29,024,023 (GRCm38) missense possibly damaging 0.79
R5503:Ryr1 UTSW 7 29,069,028 (GRCm38) missense possibly damaging 0.87
R5541:Ryr1 UTSW 7 29,086,185 (GRCm38) missense probably damaging 1.00
R5573:Ryr1 UTSW 7 29,015,723 (GRCm38) missense unknown
R5575:Ryr1 UTSW 7 29,078,693 (GRCm38) missense possibly damaging 0.77
R5610:Ryr1 UTSW 7 29,111,974 (GRCm38) missense probably benign 0.05
R5658:Ryr1 UTSW 7 29,091,089 (GRCm38) splice site probably null
R5918:Ryr1 UTSW 7 29,009,152 (GRCm38) missense probably benign 0.39
R5926:Ryr1 UTSW 7 29,104,360 (GRCm38) missense probably damaging 1.00
R5938:Ryr1 UTSW 7 29,046,865 (GRCm38) missense probably damaging 1.00
R5939:Ryr1 UTSW 7 29,116,127 (GRCm38) missense probably damaging 0.97
R5947:Ryr1 UTSW 7 29,071,924 (GRCm38) missense probably null 0.98
R5991:Ryr1 UTSW 7 29,104,610 (GRCm38) missense probably damaging 0.99
R5992:Ryr1 UTSW 7 29,067,637 (GRCm38) missense probably damaging 1.00
R5996:Ryr1 UTSW 7 29,024,241 (GRCm38) missense probably benign 0.38
R6075:Ryr1 UTSW 7 29,087,438 (GRCm38) missense probably damaging 1.00
R6091:Ryr1 UTSW 7 29,071,973 (GRCm38) missense probably benign 0.01
R6126:Ryr1 UTSW 7 29,076,239 (GRCm38) missense probably null 1.00
R6147:Ryr1 UTSW 7 29,085,914 (GRCm38) missense possibly damaging 0.88
R6235:Ryr1 UTSW 7 29,116,181 (GRCm38) missense probably benign 0.07
R6279:Ryr1 UTSW 7 29,087,428 (GRCm38) missense possibly damaging 0.93
R6381:Ryr1 UTSW 7 29,075,257 (GRCm38) missense possibly damaging 0.87
R6441:Ryr1 UTSW 7 29,059,695 (GRCm38) missense possibly damaging 0.95
R6443:Ryr1 UTSW 7 29,077,078 (GRCm38) missense probably damaging 0.97
R6459:Ryr1 UTSW 7 29,015,654 (GRCm38) missense probably benign 0.39
R6514:Ryr1 UTSW 7 29,046,841 (GRCm38) missense probably damaging 1.00
R6563:Ryr1 UTSW 7 29,095,492 (GRCm38) missense possibly damaging 0.92
R6660:Ryr1 UTSW 7 29,038,345 (GRCm38) critical splice donor site probably null
R6746:Ryr1 UTSW 7 29,117,404 (GRCm38) missense possibly damaging 0.56
R6785:Ryr1 UTSW 7 29,064,874 (GRCm38) missense probably benign 0.12
R6800:Ryr1 UTSW 7 29,024,316 (GRCm38) missense possibly damaging 0.95
R6939:Ryr1 UTSW 7 29,052,326 (GRCm38) missense possibly damaging 0.91
R6980:Ryr1 UTSW 7 29,109,387 (GRCm38) missense probably benign 0.03
R6995:Ryr1 UTSW 7 29,094,182 (GRCm38) missense probably damaging 0.97
R7065:Ryr1 UTSW 7 29,103,643 (GRCm38) missense probably damaging 1.00
R7123:Ryr1 UTSW 7 29,046,854 (GRCm38) missense probably benign 0.37
R7238:Ryr1 UTSW 7 29,095,382 (GRCm38) missense probably benign 0.24
R7240:Ryr1 UTSW 7 29,052,015 (GRCm38) missense possibly damaging 0.95
R7300:Ryr1 UTSW 7 29,059,511 (GRCm38) missense probably damaging 1.00
R7365:Ryr1 UTSW 7 29,085,755 (GRCm38) missense probably benign 0.05
R7403:Ryr1 UTSW 7 29,013,867 (GRCm38) missense probably benign 0.34
R7422:Ryr1 UTSW 7 29,085,870 (GRCm38) missense probably benign 0.00
R7493:Ryr1 UTSW 7 29,095,205 (GRCm38) missense probably benign 0.44
R7570:Ryr1 UTSW 7 29,078,585 (GRCm38) missense probably damaging 0.98
R7593:Ryr1 UTSW 7 29,036,103 (GRCm38) missense probably damaging 1.00
R7769:Ryr1 UTSW 7 29,098,785 (GRCm38) missense probably damaging 1.00
R7781:Ryr1 UTSW 7 29,067,630 (GRCm38) missense probably damaging 1.00
R7790:Ryr1 UTSW 7 29,104,832 (GRCm38) missense probably benign 0.39
R7799:Ryr1 UTSW 7 29,003,560 (GRCm38) splice site probably null
R7916:Ryr1 UTSW 7 29,090,939 (GRCm38) nonsense probably null
R7922:Ryr1 UTSW 7 29,097,224 (GRCm38) missense probably benign 0.09
R7988:Ryr1 UTSW 7 29,096,171 (GRCm38) missense probably benign 0.29
R7997:Ryr1 UTSW 7 29,003,543 (GRCm38) missense unknown
R8052:Ryr1 UTSW 7 29,083,385 (GRCm38) missense probably benign 0.05
R8096:Ryr1 UTSW 7 29,009,201 (GRCm38) missense unknown
R8116:Ryr1 UTSW 7 29,110,883 (GRCm38) missense probably benign 0.03
R8202:Ryr1 UTSW 7 29,091,032 (GRCm38) missense probably benign 0.18
R8207:Ryr1 UTSW 7 29,090,225 (GRCm38) missense probably damaging 1.00
R8248:Ryr1 UTSW 7 29,069,121 (GRCm38) missense probably damaging 1.00
R8257:Ryr1 UTSW 7 29,064,639 (GRCm38) missense possibly damaging 0.82
R8354:Ryr1 UTSW 7 29,015,717 (GRCm38) missense unknown
R8454:Ryr1 UTSW 7 29,015,717 (GRCm38) missense unknown
R8487:Ryr1 UTSW 7 29,040,867 (GRCm38) missense probably damaging 0.97
R8529:Ryr1 UTSW 7 29,070,084 (GRCm38) missense possibly damaging 0.86
R8545:Ryr1 UTSW 7 29,004,814 (GRCm38) unclassified probably benign
R8678:Ryr1 UTSW 7 29,077,064 (GRCm38) missense probably damaging 0.99
R8717:Ryr1 UTSW 7 29,052,328 (GRCm38) missense probably benign 0.03
R8724:Ryr1 UTSW 7 29,117,377 (GRCm38) missense probably benign 0.04
R8755:Ryr1 UTSW 7 29,092,268 (GRCm38) missense probably benign 0.19
R8772:Ryr1 UTSW 7 29,116,132 (GRCm38) missense probably benign 0.05
R8790:Ryr1 UTSW 7 29,076,872 (GRCm38) missense probably damaging 1.00
R8793:Ryr1 UTSW 7 29,064,859 (GRCm38) missense probably damaging 1.00
R8836:Ryr1 UTSW 7 29,074,666 (GRCm38) missense probably damaging 1.00
R8858:Ryr1 UTSW 7 29,109,213 (GRCm38) missense probably benign 0.00
R8910:Ryr1 UTSW 7 29,071,915 (GRCm38) missense probably damaging 1.00
R8920:Ryr1 UTSW 7 29,090,215 (GRCm38) missense possibly damaging 0.89
R8938:Ryr1 UTSW 7 29,101,933 (GRCm38) missense probably damaging 1.00
R9035:Ryr1 UTSW 7 29,090,997 (GRCm38) missense probably damaging 0.97
R9115:Ryr1 UTSW 7 29,104,564 (GRCm38) nonsense probably null
R9123:Ryr1 UTSW 7 29,071,804 (GRCm38) missense probably damaging 1.00
R9154:Ryr1 UTSW 7 29,069,858 (GRCm38) missense probably benign 0.08
R9189:Ryr1 UTSW 7 29,077,046 (GRCm38) missense probably damaging 1.00
R9200:Ryr1 UTSW 7 29,095,099 (GRCm38) missense probably benign 0.00
R9214:Ryr1 UTSW 7 29,085,762 (GRCm38) missense possibly damaging 0.52
R9216:Ryr1 UTSW 7 29,101,852 (GRCm38) missense probably damaging 0.97
R9240:Ryr1 UTSW 7 29,043,888 (GRCm38) missense probably damaging 1.00
R9261:Ryr1 UTSW 7 29,052,388 (GRCm38) missense possibly damaging 0.91
R9276:Ryr1 UTSW 7 29,102,829 (GRCm38) missense probably damaging 0.99
R9280:Ryr1 UTSW 7 29,102,964 (GRCm38) missense probably damaging 1.00
R9316:Ryr1 UTSW 7 29,017,962 (GRCm38) missense unknown
R9333:Ryr1 UTSW 7 29,074,789 (GRCm38) critical splice donor site probably null
R9459:Ryr1 UTSW 7 29,068,643 (GRCm38) missense probably damaging 1.00
R9468:Ryr1 UTSW 7 29,073,085 (GRCm38) missense probably damaging 1.00
R9486:Ryr1 UTSW 7 29,078,540 (GRCm38) missense probably benign 0.15
R9524:Ryr1 UTSW 7 29,024,175 (GRCm38) missense probably damaging 1.00
R9620:Ryr1 UTSW 7 29,015,713 (GRCm38) missense unknown
R9664:Ryr1 UTSW 7 29,059,667 (GRCm38) missense probably damaging 1.00
R9776:Ryr1 UTSW 7 29,075,239 (GRCm38) missense probably damaging 1.00
X0021:Ryr1 UTSW 7 29,061,531 (GRCm38) missense probably damaging 1.00
Z1176:Ryr1 UTSW 7 29,103,498 (GRCm38) missense probably damaging 1.00
Z1176:Ryr1 UTSW 7 29,086,035 (GRCm38) missense probably benign 0.10
Z1176:Ryr1 UTSW 7 29,020,214 (GRCm38) missense probably damaging 1.00
Z1177:Ryr1 UTSW 7 29,101,922 (GRCm38) missense probably damaging 1.00
Z1177:Ryr1 UTSW 7 29,048,792 (GRCm38) nonsense probably null
Z1177:Ryr1 UTSW 7 29,017,985 (GRCm38) missense unknown
Z1186:Ryr1 UTSW 7 29,082,477 (GRCm38) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- TGTGGTCCCTGAGTGCTAAAG -3'
(R):5'- GGATGGTGGGAGAAATCTTCATC -3'

Sequencing Primer
(F):5'- TCCCTGAGTGCTAAAGGGGATATG -3'
(R):5'- GGGAGAAATCTTCATCTACTGGTCC -3'
Posted On 2015-02-19