Incidental Mutation 'R9224:Myom2'
ID 699681
Institutional Source Beutler Lab
Gene Symbol Myom2
Ensembl Gene ENSMUSG00000031461
Gene Name myomesin 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R9224 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 15107653-15183410 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15178804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1279 (I1279F)
Ref Sequence ENSEMBL: ENSMUSP00000033842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033842]
AlphaFold Q14BI5
Predicted Effect possibly damaging
Transcript: ENSMUST00000033842
AA Change: I1279F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: I1279F

DomainStartEndE-ValueType
low complexity region 34 63 N/A INTRINSIC
low complexity region 79 87 N/A INTRINSIC
coiled coil region 97 129 N/A INTRINSIC
IG 160 247 7.7e-5 SMART
IG 284 373 8.01e-3 SMART
FN3 383 466 1.5e-14 SMART
FN3 511 594 1.79e-12 SMART
FN3 612 693 1.95e-13 SMART
FN3 711 794 8.69e-11 SMART
FN3 813 896 1.86e-10 SMART
IG_like 913 999 1.58e2 SMART
Blast:IG_like 1021 1106 1e-44 BLAST
IG_like 1135 1215 2.27e1 SMART
Blast:IG_like 1227 1321 9e-51 BLAST
IGc2 1357 1425 4.96e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,767,100 (GRCm39) S229L possibly damaging Het
Actc1 TGA T 2: 113,879,710 (GRCm39) probably null Het
Actl9 G A 17: 33,653,004 (GRCm39) A355T probably benign Het
Adamts8 A G 9: 30,854,188 (GRCm39) Q19R probably benign Het
Akr1c14 A T 13: 4,130,695 (GRCm39) Y216F possibly damaging Het
Alms1 T C 6: 85,598,770 (GRCm39) C1199R possibly damaging Het
Apc2 T C 10: 80,150,111 (GRCm39) S1722P probably damaging Het
Arid1a T C 4: 133,409,167 (GRCm39) E1395G unknown Het
Atp6v0e2 T C 6: 48,516,190 (GRCm39) V46A possibly damaging Het
Bcar3 A G 3: 122,319,091 (GRCm39) R743G probably damaging Het
Bhmt2 A G 13: 93,805,854 (GRCm39) V56A probably damaging Het
Bsn C A 9: 107,982,686 (GRCm39) R917L Het
Cabyr T G 18: 12,887,278 (GRCm39) V303G possibly damaging Het
Carmil1 A T 13: 24,292,512 (GRCm39) I429N probably damaging Het
Ccdc27 T C 4: 154,122,174 (GRCm39) N235D unknown Het
Ccdc61 T C 7: 18,637,746 (GRCm39) M37V probably benign Het
Cd40 A T 2: 164,898,716 (GRCm39) I48F unknown Het
Cdk13 A T 13: 17,941,071 (GRCm39) S664R probably damaging Het
Cel TTA TTATA 2: 28,449,441 (GRCm39) probably null Het
Cfap46 T A 7: 139,258,416 (GRCm39) R286* probably null Het
Ckap2 A C 8: 22,659,954 (GRCm39) I509S possibly damaging Het
Clptm1l A T 13: 73,752,344 (GRCm39) probably benign Het
Col11a1 T G 3: 114,001,929 (GRCm39) M1591R unknown Het
Col6a5 C A 9: 105,814,594 (GRCm39) A473S unknown Het
Cxcr2 T A 1: 74,197,756 (GRCm39) D83E probably damaging Het
Cyp2c39 G A 19: 39,527,332 (GRCm39) C226Y probably benign Het
Ddr1 A C 17: 36,000,609 (GRCm39) F352C probably damaging Het
Defb22 T A 2: 152,327,721 (GRCm39) T155S unknown Het
Dennd4c G T 4: 86,738,170 (GRCm39) E935* probably null Het
Dst A C 1: 34,330,879 (GRCm39) E4889D probably damaging Het
Efcab3 A G 11: 104,661,801 (GRCm39) Q1314R probably benign Het
Emilin1 T A 5: 31,074,823 (GRCm39) C355S probably damaging Het
Enpp3 C T 10: 24,650,716 (GRCm39) V807I probably benign Het
Fcnb T A 2: 27,969,160 (GRCm39) D179V probably damaging Het
Ficd T A 5: 113,875,196 (GRCm39) D88E probably benign Het
Fndc3b T C 3: 27,524,450 (GRCm39) K437E possibly damaging Het
Fyb2 T A 4: 104,853,105 (GRCm39) W566R probably benign Het
Gm14403 A G 2: 177,200,336 (GRCm39) Q94R probably benign Het
Gm32687 T A 10: 81,714,866 (GRCm39) I86N probably benign Het
Gpam T G 19: 55,075,907 (GRCm39) D235A probably damaging Het
Gstt4 T C 10: 75,651,046 (GRCm39) E192G probably damaging Het
H2-Q6 T G 17: 35,644,309 (GRCm39) V97G probably benign Het
Hcn1 G A 13: 118,062,254 (GRCm39) G507S unknown Het
Hydin T C 8: 111,259,516 (GRCm39) I2496T probably benign Het
Jund A G 8: 71,151,864 (GRCm39) D53G probably damaging Het
Kat6b T A 14: 21,720,031 (GRCm39) M1461K probably benign Het
Lnx1 T G 5: 74,766,810 (GRCm39) K435Q probably benign Het
Lpcat1 C A 13: 73,658,161 (GRCm39) L316M probably damaging Het
Lrrtm3 ATTTT ATTTTT 10: 63,925,035 (GRCm39) probably null Het
Ly6c1 T A 15: 74,916,465 (GRCm39) T126S probably benign Het
Macf1 A G 4: 123,326,690 (GRCm39) S4938P probably damaging Het
Map2k2 T C 10: 80,954,008 (GRCm39) V158A possibly damaging Het
Map3k4 A G 17: 12,456,973 (GRCm39) V1323A probably damaging Het
Map4k5 A T 12: 69,939,467 (GRCm39) V23E possibly damaging Het
Med30 T G 15: 52,582,839 (GRCm39) L92R probably damaging Het
Mroh8 C T 2: 157,063,069 (GRCm39) G851S possibly damaging Het
Msmb T A 14: 31,880,060 (GRCm39) C83* probably null Het
Mtif2 A T 11: 29,494,364 (GRCm39) R655S probably benign Het
Myo10 C T 15: 25,808,081 (GRCm39) S1901L probably benign Het
Nat9 T C 11: 115,075,441 (GRCm39) I67V probably damaging Het
Ncam1 A G 9: 49,419,995 (GRCm39) S774P probably damaging Het
Ndufaf6 T C 4: 11,062,089 (GRCm39) T181A probably damaging Het
Nlrp4f T A 13: 65,332,829 (GRCm39) K110* probably null Het
Nlrp9b T C 7: 19,753,217 (GRCm39) S41P probably benign Het
Nlrp9b A G 7: 19,757,476 (GRCm39) T238A probably benign Het
Noxo1 A T 17: 24,919,305 (GRCm39) E342D probably benign Het
Nt5dc2 T C 14: 30,857,665 (GRCm39) M55T probably benign Het
Or1j14 A T 2: 36,417,838 (GRCm39) Q138L probably benign Het
Or2ag18 T C 7: 106,405,489 (GRCm39) Y60C probably damaging Het
Or2f1 T C 6: 42,721,904 (GRCm39) F311S probably benign Het
Or2h2c T C 17: 37,422,767 (GRCm39) T36A possibly damaging Het
Or5al6 T A 2: 85,976,220 (GRCm39) N286I probably damaging Het
Or6c210 C A 10: 129,496,007 (GRCm39) L111M probably damaging Het
Or6c6 T A 10: 129,186,450 (GRCm39) M6K probably benign Het
Or9s18 C T 13: 65,300,203 (GRCm39) T55I probably damaging Het
P4ha2 C T 11: 54,009,963 (GRCm39) P240L possibly damaging Het
Pcdha11 T A 18: 37,139,073 (GRCm39) L234Q probably damaging Het
Pgm3 C T 9: 86,438,415 (GRCm39) A457T probably benign Het
Pira12 T C 7: 3,900,234 (GRCm39) T123A probably benign Het
Pkp4 T C 2: 59,144,738 (GRCm39) V533A probably benign Het
Plac8l1 T C 18: 42,325,702 (GRCm39) T68A possibly damaging Het
Pou2f3 A T 9: 43,050,694 (GRCm39) I222N probably damaging Het
Ppp1r14d T C 2: 119,060,222 (GRCm39) D20G probably benign Het
Ppp1r37 C A 7: 19,265,729 (GRCm39) G679V probably damaging Het
Ppp6r2 T A 15: 89,146,599 (GRCm39) I199N probably damaging Het
Prune2 A G 19: 17,097,393 (GRCm39) T966A probably damaging Het
Ptdss2 T C 7: 140,734,798 (GRCm39) V375A probably benign Het
Rara TGCCCCGC TGCCCCGCCCCGC 11: 98,857,236 (GRCm39) probably null Het
Rin2 T A 2: 145,720,822 (GRCm39) C718* probably null Het
Rptor C T 11: 119,785,113 (GRCm39) T1170I probably benign Het
Samd5 T C 10: 9,550,259 (GRCm39) Y150C probably damaging Het
Setd1b T C 5: 123,296,773 (GRCm39) S1245P unknown Het
Sipa1l2 T C 8: 126,218,716 (GRCm39) E207G probably damaging Het
Slc29a1 C A 17: 45,897,153 (GRCm39) V378L probably damaging Het
Slc2a12 T G 10: 22,541,261 (GRCm39) I372S possibly damaging Het
Slc7a10 T A 7: 34,894,639 (GRCm39) Y99* probably null Het
Smco3 A G 6: 136,808,517 (GRCm39) V119A probably damaging Het
Sptlc3 C T 2: 139,336,154 (GRCm39) T10I probably benign Het
Sri T A 5: 8,113,323 (GRCm39) W105R probably damaging Het
Stk35 T C 2: 129,652,491 (GRCm39) Y331H probably damaging Het
Tipin T C 9: 64,195,430 (GRCm39) I12T probably benign Het
Tlr5 A G 1: 182,802,693 (GRCm39) T666A probably benign Het
Tmprss11g C A 5: 86,640,003 (GRCm39) V222L probably benign Het
Tnfrsf11b T A 15: 54,115,556 (GRCm39) Y347F possibly damaging Het
Traf6 A G 2: 101,527,512 (GRCm39) T421A probably benign Het
Trrap T A 5: 144,708,049 (GRCm39) D30E possibly damaging Het
Ube2k T A 5: 65,751,847 (GRCm39) Y162N probably damaging Het
Uck2 A T 1: 167,065,171 (GRCm39) V49E probably damaging Het
Vcam1 A T 3: 115,904,592 (GRCm39) Y718* probably null Het
Zan T C 5: 137,472,269 (GRCm39) N159S probably damaging Het
Zfp438 A G 18: 5,210,788 (GRCm39) L750P probably damaging Het
Zfp54 A T 17: 21,654,037 (GRCm39) Y177F probably benign Het
Other mutations in Myom2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Myom2 APN 8 15,119,490 (GRCm39) missense probably damaging 1.00
IGL00426:Myom2 APN 8 15,119,502 (GRCm39) missense probably benign 0.00
IGL00503:Myom2 APN 8 15,164,289 (GRCm39) splice site probably null
IGL01515:Myom2 APN 8 15,172,655 (GRCm39) missense probably benign 0.15
IGL01649:Myom2 APN 8 15,163,755 (GRCm39) missense probably benign 0.24
IGL01658:Myom2 APN 8 15,127,880 (GRCm39) missense probably damaging 1.00
IGL01786:Myom2 APN 8 15,156,330 (GRCm39) missense probably damaging 0.99
IGL01924:Myom2 APN 8 15,119,685 (GRCm39) missense probably benign 0.37
IGL01929:Myom2 APN 8 15,167,698 (GRCm39) missense probably damaging 0.96
IGL02016:Myom2 APN 8 15,175,195 (GRCm39) missense probably benign 0.01
IGL02511:Myom2 APN 8 15,115,743 (GRCm39) missense probably benign
IGL02558:Myom2 APN 8 15,164,237 (GRCm39) missense probably benign 0.31
IGL02944:Myom2 APN 8 15,154,065 (GRCm39) critical splice acceptor site probably null
IGL03052:Myom2 APN 8 15,173,442 (GRCm39) splice site probably benign
IGL03195:Myom2 APN 8 15,161,844 (GRCm39) nonsense probably null
IGL03288:Myom2 APN 8 15,172,679 (GRCm39) missense probably damaging 0.99
IGL03402:Myom2 APN 8 15,115,731 (GRCm39) missense probably benign
yomama UTSW 8 15,182,895 (GRCm39) missense probably benign 0.10
yoyoma UTSW 8 15,182,667 (GRCm39) missense probably damaging 0.99
R0069:Myom2 UTSW 8 15,167,624 (GRCm39) missense probably benign
R0116:Myom2 UTSW 8 15,167,633 (GRCm39) missense probably damaging 1.00
R0131:Myom2 UTSW 8 15,133,329 (GRCm39) missense probably damaging 0.98
R0373:Myom2 UTSW 8 15,148,419 (GRCm39) missense possibly damaging 0.91
R0463:Myom2 UTSW 8 15,154,123 (GRCm39) missense probably benign 0.09
R0544:Myom2 UTSW 8 15,119,796 (GRCm39) missense probably damaging 1.00
R0629:Myom2 UTSW 8 15,119,783 (GRCm39) missense probably damaging 0.98
R0634:Myom2 UTSW 8 15,169,216 (GRCm39) splice site probably benign
R0645:Myom2 UTSW 8 15,167,698 (GRCm39) missense probably damaging 0.96
R0730:Myom2 UTSW 8 15,149,326 (GRCm39) missense probably benign 0.00
R0744:Myom2 UTSW 8 15,182,924 (GRCm39) nonsense probably null
R0836:Myom2 UTSW 8 15,182,924 (GRCm39) nonsense probably null
R1033:Myom2 UTSW 8 15,158,934 (GRCm39) missense probably benign 0.04
R1103:Myom2 UTSW 8 15,160,827 (GRCm39) missense probably benign 0.22
R1110:Myom2 UTSW 8 15,172,413 (GRCm39) missense probably benign 0.44
R1208:Myom2 UTSW 8 15,134,631 (GRCm39) missense probably damaging 1.00
R1208:Myom2 UTSW 8 15,134,631 (GRCm39) missense probably damaging 1.00
R1353:Myom2 UTSW 8 15,156,424 (GRCm39) missense probably damaging 1.00
R1530:Myom2 UTSW 8 15,172,384 (GRCm39) missense probably damaging 1.00
R1544:Myom2 UTSW 8 15,154,059 (GRCm39) splice site probably benign
R1576:Myom2 UTSW 8 15,134,556 (GRCm39) missense probably damaging 1.00
R1758:Myom2 UTSW 8 15,115,795 (GRCm39) missense probably benign 0.00
R1884:Myom2 UTSW 8 15,164,278 (GRCm39) missense probably benign 0.01
R1908:Myom2 UTSW 8 15,131,023 (GRCm39) missense probably damaging 1.00
R1962:Myom2 UTSW 8 15,182,599 (GRCm39) splice site probably null
R1977:Myom2 UTSW 8 15,135,263 (GRCm39) missense possibly damaging 0.47
R2018:Myom2 UTSW 8 15,181,151 (GRCm39) missense probably damaging 1.00
R2049:Myom2 UTSW 8 15,156,379 (GRCm39) missense probably damaging 0.97
R2155:Myom2 UTSW 8 15,134,555 (GRCm39) missense probably damaging 0.98
R2314:Myom2 UTSW 8 15,113,927 (GRCm39) missense probably damaging 0.99
R2350:Myom2 UTSW 8 15,158,835 (GRCm39) missense probably benign 0.09
R2358:Myom2 UTSW 8 15,162,018 (GRCm39) missense possibly damaging 0.68
R2904:Myom2 UTSW 8 15,148,348 (GRCm39) missense probably benign 0.00
R3418:Myom2 UTSW 8 15,135,294 (GRCm39) missense probably benign 0.01
R3606:Myom2 UTSW 8 15,119,775 (GRCm39) missense probably damaging 1.00
R3607:Myom2 UTSW 8 15,119,775 (GRCm39) missense probably damaging 1.00
R3735:Myom2 UTSW 8 15,119,676 (GRCm39) missense probably benign 0.01
R3756:Myom2 UTSW 8 15,152,650 (GRCm39) missense probably benign 0.11
R3902:Myom2 UTSW 8 15,154,165 (GRCm39) missense probably benign
R3951:Myom2 UTSW 8 15,134,556 (GRCm39) missense probably benign 0.35
R4240:Myom2 UTSW 8 15,182,895 (GRCm39) missense probably benign 0.10
R4361:Myom2 UTSW 8 15,162,018 (GRCm39) missense possibly damaging 0.68
R4581:Myom2 UTSW 8 15,156,459 (GRCm39) missense probably benign 0.02
R4736:Myom2 UTSW 8 15,131,271 (GRCm39) missense probably damaging 0.99
R5010:Myom2 UTSW 8 15,133,310 (GRCm39) missense probably damaging 0.98
R5108:Myom2 UTSW 8 15,182,667 (GRCm39) missense probably damaging 0.99
R5370:Myom2 UTSW 8 15,149,343 (GRCm39) missense probably benign 0.10
R5427:Myom2 UTSW 8 15,163,764 (GRCm39) missense probably benign 0.03
R5498:Myom2 UTSW 8 15,179,142 (GRCm39) missense probably benign 0.01
R5504:Myom2 UTSW 8 15,178,879 (GRCm39) missense probably damaging 1.00
R5567:Myom2 UTSW 8 15,152,546 (GRCm39) missense probably benign 0.01
R5743:Myom2 UTSW 8 15,130,914 (GRCm39) missense possibly damaging 0.82
R5745:Myom2 UTSW 8 15,172,705 (GRCm39) missense probably benign 0.01
R5844:Myom2 UTSW 8 15,181,182 (GRCm39) critical splice donor site probably null
R5854:Myom2 UTSW 8 15,158,478 (GRCm39) missense probably benign
R6141:Myom2 UTSW 8 15,113,903 (GRCm39) missense probably damaging 1.00
R6209:Myom2 UTSW 8 15,154,173 (GRCm39) missense possibly damaging 0.76
R6248:Myom2 UTSW 8 15,148,472 (GRCm39) splice site probably null
R6378:Myom2 UTSW 8 15,149,356 (GRCm39) missense probably benign 0.11
R6829:Myom2 UTSW 8 15,172,643 (GRCm39) nonsense probably null
R6913:Myom2 UTSW 8 15,115,710 (GRCm39) missense probably benign
R6957:Myom2 UTSW 8 15,167,741 (GRCm39) missense probably null 0.42
R6958:Myom2 UTSW 8 15,167,741 (GRCm39) missense probably null 0.42
R6960:Myom2 UTSW 8 15,167,741 (GRCm39) missense probably null 0.42
R6961:Myom2 UTSW 8 15,167,741 (GRCm39) missense probably null 0.42
R6962:Myom2 UTSW 8 15,167,741 (GRCm39) missense probably null 0.42
R6999:Myom2 UTSW 8 15,134,531 (GRCm39) missense probably benign 0.22
R7148:Myom2 UTSW 8 15,134,577 (GRCm39) missense possibly damaging 0.72
R7210:Myom2 UTSW 8 15,154,114 (GRCm39) missense probably damaging 1.00
R7298:Myom2 UTSW 8 15,148,411 (GRCm39) missense probably damaging 1.00
R7463:Myom2 UTSW 8 15,167,679 (GRCm39) missense probably null 0.94
R7535:Myom2 UTSW 8 15,167,679 (GRCm39) missense probably damaging 1.00
R7573:Myom2 UTSW 8 15,172,450 (GRCm39) missense probably damaging 1.00
R7590:Myom2 UTSW 8 15,167,679 (GRCm39) missense probably damaging 1.00
R7690:Myom2 UTSW 8 15,161,717 (GRCm39) critical splice acceptor site probably null
R7794:Myom2 UTSW 8 15,133,259 (GRCm39) missense probably damaging 1.00
R7822:Myom2 UTSW 8 15,158,454 (GRCm39) missense probably benign
R7948:Myom2 UTSW 8 15,135,306 (GRCm39) missense probably benign 0.00
R8094:Myom2 UTSW 8 15,119,418 (GRCm39) missense possibly damaging 0.94
R8268:Myom2 UTSW 8 15,179,157 (GRCm39) missense probably damaging 1.00
R8292:Myom2 UTSW 8 15,182,888 (GRCm39) missense probably benign 0.01
R8514:Myom2 UTSW 8 15,175,153 (GRCm39) missense possibly damaging 0.65
R8539:Myom2 UTSW 8 15,164,254 (GRCm39) missense probably benign 0.01
R8790:Myom2 UTSW 8 15,169,242 (GRCm39) missense probably damaging 1.00
R8824:Myom2 UTSW 8 15,164,169 (GRCm39) missense possibly damaging 0.82
R8895:Myom2 UTSW 8 15,152,589 (GRCm39) nonsense probably null
R9024:Myom2 UTSW 8 15,113,936 (GRCm39) missense probably damaging 1.00
R9129:Myom2 UTSW 8 15,154,068 (GRCm39) missense probably damaging 1.00
R9237:Myom2 UTSW 8 15,152,591 (GRCm39) missense possibly damaging 0.85
R9321:Myom2 UTSW 8 15,172,464 (GRCm39) missense possibly damaging 0.91
R9341:Myom2 UTSW 8 15,134,633 (GRCm39) missense probably damaging 0.97
R9343:Myom2 UTSW 8 15,134,633 (GRCm39) missense probably damaging 0.97
R9375:Myom2 UTSW 8 15,149,210 (GRCm39) missense probably damaging 1.00
R9455:Myom2 UTSW 8 15,156,293 (GRCm39) missense probably benign 0.31
R9563:Myom2 UTSW 8 15,158,399 (GRCm39) nonsense probably null
R9565:Myom2 UTSW 8 15,158,399 (GRCm39) nonsense probably null
RF001:Myom2 UTSW 8 15,131,418 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- AACAAAACCTACTGTGCCATTGG -3'
(R):5'- ACGTTCAGTGGATTATCCTGCAC -3'

Sequencing Primer
(F):5'- CCATTGGCATGAGCAAGTTG -3'
(R):5'- AGTGGATTATCCTGCACCCTTTG -3'
Posted On 2022-02-07