Incidental Mutation 'R6980:Ryr1'
ID 543769
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 045088-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6980 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 29003344-29125179 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29109387 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 420 (D420V)
Ref Sequence ENSEMBL: ENSMUSP00000137123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032813] [ENSMUST00000179893] [ENSMUST00000214374]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032813
AA Change: D420V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032813
Gene: ENSMUSG00000030592
AA Change: D420V

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 benign
Transcript: ENSMUST00000179893
AA Change: D420V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137123
Gene: ENSMUSG00000030592
AA Change: D420V

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 benign
Transcript: ENSMUST00000214374
AA Change: D427V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C A 2: 25,440,866 (GRCm38) R1189S possibly damaging Het
Abcf2 T C 5: 24,565,972 (GRCm38) Q594R probably benign Het
Abhd18 G A 3: 40,933,780 (GRCm38) S353N probably benign Het
Adrb1 G T 19: 56,723,614 (GRCm38) A415S probably benign Het
Art2b T C 7: 101,580,473 (GRCm38) N73S probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,888,136 (GRCm38) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,888,139 (GRCm38) probably benign Het
BC028528 CACTGGTTCTGTGGT CACTGGTTCTGTGGTTACTGGTTCTGTGGT 3: 95,888,168 (GRCm38) probably benign Het
Cacna1a A G 8: 84,612,285 (GRCm38) M1753V possibly damaging Het
Cbx8 A T 11: 119,039,461 (GRCm38) I102N possibly damaging Het
Ccdc178 T A 18: 22,105,563 (GRCm38) E332D probably benign Het
Cfap74 G A 4: 155,466,352 (GRCm38) probably benign Het
Chat A T 14: 32,424,154 (GRCm38) M354K probably benign Het
Cmas A G 6: 142,756,800 (GRCm38) T10A probably damaging Het
Cyb561d1 A T 3: 108,200,159 (GRCm38) L51H probably benign Het
D030056L22Rik A T 19: 18,717,265 (GRCm38) N128I probably damaging Het
D130043K22Rik G T 13: 24,864,781 (GRCm38) A423S probably damaging Het
Dnah14 T C 1: 181,648,230 (GRCm38) I1349T probably benign Het
Dnajb3 T G 1: 88,205,014 (GRCm38) D222A probably damaging Het
Dtx1 T C 5: 120,681,357 (GRCm38) E592G probably damaging Het
Dzank1 C T 2: 144,490,136 (GRCm38) G427R possibly damaging Het
E130308A19Rik A C 4: 59,719,991 (GRCm38) K508Q probably damaging Het
Eif4e1b T A 13: 54,784,103 (GRCm38) probably null Het
Ell2 A G 13: 75,756,376 (GRCm38) M159V probably null Het
Eml4 G A 17: 83,451,017 (GRCm38) V377I probably benign Het
Fryl A T 5: 73,050,430 (GRCm38) S2466T probably benign Het
Gfpt1 C A 6: 87,077,089 (GRCm38) T426K probably damaging Het
Gm28710 T A 5: 16,826,946 (GRCm38) V533D possibly damaging Het
Gm49355 T C 14: 12,307,173 (GRCm38) probably benign Het
Gm5114 T C 7: 39,409,200 (GRCm38) I332V probably benign Het
Gpr15 T A 16: 58,718,742 (GRCm38) probably benign Het
Gpr179 T C 11: 97,334,858 (GRCm38) E2157G probably benign Het
Gramd4 A G 15: 86,131,969 (GRCm38) N482S probably benign Het
Hfm1 A T 5: 106,880,477 (GRCm38) I829K probably benign Het
Hydin A T 8: 110,413,284 (GRCm38) E728D possibly damaging Het
Ifngr2 T A 16: 91,560,007 (GRCm38) V143E probably damaging Het
Ift172 T C 5: 31,257,386 (GRCm38) D1390G probably benign Het
Kdf1 A T 4: 133,528,827 (GRCm38) D285V probably damaging Het
Mast4 C T 13: 102,804,647 (GRCm38) V301I probably damaging Het
Mdn1 G A 4: 32,726,942 (GRCm38) probably null Het
Megf11 A G 9: 64,705,850 (GRCm38) E1016G probably damaging Het
Mixl1 G A 1: 180,696,888 (GRCm38) A42V possibly damaging Het
Mpp2 A G 11: 102,059,328 (GRCm38) W567R probably damaging Het
Mrgpra6 A G 7: 47,188,949 (GRCm38) L136P probably damaging Het
Mroh7 T A 4: 106,700,237 (GRCm38) I759L probably benign Het
Nrxn2 A G 19: 6,450,579 (GRCm38) D277G probably benign Het
Nup210l A T 3: 90,119,927 (GRCm38) K205N probably benign Het
Olfr1040 A T 2: 86,146,337 (GRCm38) Y132* probably null Het
Olfr1284 A G 2: 111,379,275 (GRCm38) I92V possibly damaging Het
Olfr475-ps1 A G 2: 88,623,595 (GRCm38) *97W probably null Het
Olfr603 T C 7: 103,383,096 (GRCm38) E302G probably benign Het
Oxnad1 C T 14: 32,085,619 (GRCm38) probably benign Het
Pamr1 C T 2: 102,642,204 (GRCm38) T616I probably benign Het
Pcdhgb5 C T 18: 37,733,539 (GRCm38) H796Y possibly damaging Het
Pdlim7 G T 13: 55,508,228 (GRCm38) D126E probably benign Het
Pfdn2 C T 1: 171,357,897 (GRCm38) probably benign Het
Piezo2 T A 18: 63,082,961 (GRCm38) probably null Het
Pms2 A T 5: 143,912,024 (GRCm38) I43L probably benign Het
Prex2 T A 1: 11,162,263 (GRCm38) S851R probably benign Het
Ptpn4 T A 1: 119,743,421 (GRCm38) E202D possibly damaging Het
Rnf40 T A 7: 127,594,677 (GRCm38) V455E probably damaging Het
Rp1l1 A G 14: 64,028,720 (GRCm38) N585S probably benign Het
Rrp12 A G 19: 41,890,143 (GRCm38) S188P probably damaging Het
Rsbn1l T A 5: 20,896,484 (GRCm38) H686L probably benign Het
Runx2 C T 17: 44,735,316 (GRCm38) V107I possibly damaging Het
Rusc2 A G 4: 43,422,846 (GRCm38) I994M probably benign Het
Sash1 T C 10: 8,729,848 (GRCm38) Q926R probably benign Het
Scgb3a2 T A 18: 43,764,434 (GRCm38) I6N probably damaging Het
Sdc3 T A 4: 130,816,922 (GRCm38) probably benign Het
Sik2 A G 9: 50,897,455 (GRCm38) V658A probably benign Het
Slc25a39 A G 11: 102,405,775 (GRCm38) V81A probably damaging Het
Snai2 T A 16: 14,708,249 (GRCm38) S255T possibly damaging Het
Sorbs1 A T 19: 40,327,616 (GRCm38) Y371* probably null Het
Spata31d1b A T 13: 59,715,422 (GRCm38) H128L probably benign Het
Spdl1 A T 11: 34,830,879 (GRCm38) M1K probably null Het
Tgm3 T A 2: 130,026,777 (GRCm38) N211K probably benign Het
Tmem116 T C 5: 121,467,987 (GRCm38) probably null Het
Tmem132e T A 11: 82,438,386 (GRCm38) probably null Het
Tmem53 T C 4: 117,268,508 (GRCm38) C251R probably damaging Het
Trcg1 A C 9: 57,245,573 (GRCm38) D551A probably damaging Het
Trp63 T A 16: 25,802,093 (GRCm38) F12I probably benign Het
Ttn C T 2: 76,879,057 (GRCm38) probably null Het
Tubgcp4 T C 2: 121,195,465 (GRCm38) V596A probably benign Het
Ugt2a3 A C 5: 87,325,632 (GRCm38) H475Q probably damaging Het
Unc79 G A 12: 103,059,500 (GRCm38) R382K probably damaging Het
Vmn2r58 T C 7: 41,864,238 (GRCm38) H327R possibly damaging Het
Vmn2r7 G A 3: 64,716,566 (GRCm38) T111I possibly damaging Het
Zfp318 T A 17: 46,397,212 (GRCm38) Y399N probably damaging 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
R3551:Ryr1 UTSW 7 29,056,997 (GRCm38) missense probably damaging 1.00
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
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'- GCTTTACCTCCTCCTGGAAG -3'
(R):5'- GCGACCATCACCTAAGTTTCAC -3'

Sequencing Primer
(F):5'- TCCTGGAAGAGGCTCTGTC -3'
(R):5'- AGCACTCAAACCCTTGCTTGG -3'
Posted On 2019-05-13