Incidental Mutation 'R2018:Myom2'
ID 223429
Institutional Source Beutler Lab
Gene Symbol Myom2
Ensembl Gene ENSMUSG00000031461
Gene Name myomesin 2
Synonyms
MMRRC Submission 040027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R2018 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 15107653-15183410 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 15181151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 1350 (L1350F)
Ref Sequence ENSEMBL: ENSMUSP00000033842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033842]
AlphaFold Q14BI5
Predicted Effect probably damaging
Transcript: ENSMUST00000033842
AA Change: L1350F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: L1350F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140033
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
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: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,293,899 (GRCm39) F252L possibly damaging Het
4930447A16Rik T G 15: 37,440,742 (GRCm39) probably benign Het
Abca14 A T 7: 119,815,408 (GRCm39) M219L probably benign Het
Abi3bp A G 16: 56,498,159 (GRCm39) T918A probably damaging Het
Acss3 C T 10: 106,772,068 (GRCm39) S669N probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamtsl4 A G 3: 95,588,412 (GRCm39) Y559H probably damaging Het
Adgrg5 T A 8: 95,661,108 (GRCm39) M106K probably damaging Het
Akt1 T C 12: 112,626,059 (GRCm39) N71S probably damaging Het
Amer2 A C 14: 60,615,894 (GRCm39) K30Q probably damaging Het
Anapc5 T C 5: 122,938,587 (GRCm39) K383E probably damaging Het
Ano1 A G 7: 144,207,987 (GRCm39) L258P probably damaging Het
Arb2a A G 13: 78,147,756 (GRCm39) T321A possibly damaging Het
Arhgef10l A G 4: 140,271,695 (GRCm39) S560P probably damaging Het
Arhgef40 T A 14: 52,241,162 (GRCm39) L1395Q probably damaging Het
Arid1a A T 4: 133,409,145 (GRCm39) D1787E unknown Het
Ces2h T C 8: 105,745,030 (GRCm39) L388P probably damaging Het
Cfap54 T A 10: 92,852,466 (GRCm39) N880I probably benign Het
Cryz T C 3: 154,327,320 (GRCm39) V116A probably damaging Het
Csrp1 G A 1: 135,678,366 (GRCm39) A159T probably damaging Het
Cttnbp2 A G 6: 18,434,517 (GRCm39) F447S probably damaging Het
Cyp4a12a A T 4: 115,184,702 (GRCm39) I328F probably damaging Het
Cyth4 T G 15: 78,492,371 (GRCm39) H133Q probably damaging Het
Ddah2 A G 17: 35,279,402 (GRCm39) I88V possibly damaging Het
Dmbt1 T G 7: 130,712,718 (GRCm39) I1563S possibly damaging Het
Dnajc22 T C 15: 98,999,114 (GRCm39) S100P probably benign Het
Fancl T A 11: 26,372,459 (GRCm39) D123E probably damaging Het
Fbxo30 A G 10: 11,166,772 (GRCm39) Q498R probably damaging Het
Fgd4 T C 16: 16,253,824 (GRCm39) H581R probably benign Het
Gm2663 T C 6: 40,974,900 (GRCm39) Q57R probably benign Het
Gm7247 A T 14: 51,602,804 (GRCm39) M47L possibly damaging Het
Gsdmc2 T A 15: 63,699,975 (GRCm39) probably null Het
Hc A C 2: 34,903,540 (GRCm39) F1038C probably damaging Het
Heatr1 C A 13: 12,429,359 (GRCm39) Q890K possibly damaging Het
Hipk4 C A 7: 27,228,429 (GRCm39) T293K probably damaging Het
Hp1bp3 C A 4: 137,948,943 (GRCm39) A2E probably damaging Het
Il6 T C 5: 30,219,945 (GRCm39) probably null Het
Itga6 A G 2: 71,648,828 (GRCm39) D104G probably benign Het
Krt24 A G 11: 99,173,277 (GRCm39) S293P probably damaging Het
Krt4 C T 15: 101,829,086 (GRCm39) R309Q probably damaging Het
Krt40 A T 11: 99,430,913 (GRCm39) W199R probably damaging Het
Lamc1 T C 1: 153,118,378 (GRCm39) E931G probably benign Het
Lamp3 A T 16: 19,519,961 (GRCm39) M74K probably benign Het
Lgalsl2 A G 7: 5,362,573 (GRCm39) D68G probably benign Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Marchf7 T A 2: 60,059,384 (GRCm39) Y37* probably null Het
Mrpl36 A G 13: 73,479,687 (GRCm39) K66E probably damaging Het
Mrps35 G T 6: 146,962,982 (GRCm39) E229* probably null Het
Mtmr6 T C 14: 60,536,441 (GRCm39) M557T probably benign Het
Myocd A T 11: 65,077,854 (GRCm39) I647N probably damaging Het
Nhsl3 A G 4: 129,116,148 (GRCm39) S884P probably damaging Het
Nosip T A 7: 44,726,033 (GRCm39) S197T probably benign Het
Npat A G 9: 53,473,791 (GRCm39) K528E probably benign Het
Nyap2 A G 1: 81,169,587 (GRCm39) T115A probably benign Het
Obi1 T A 14: 104,759,978 (GRCm39) K24M probably damaging Het
Or10al6 A G 17: 38,083,467 (GRCm39) R317G probably benign Het
Or4a72 A G 2: 89,405,737 (GRCm39) V111A probably damaging Het
Or4c109 G T 2: 88,818,489 (GRCm39) P19Q probably benign Het
Or51b6 T A 7: 103,556,249 (GRCm39) V201D possibly damaging Het
Or5m3 A T 2: 85,838,567 (GRCm39) Y149F probably damaging Het
Or8g55 A G 9: 39,785,354 (GRCm39) Q261R probably benign Het
Orc1 T C 4: 108,447,897 (GRCm39) V48A possibly damaging Het
Pde6d T C 1: 86,474,438 (GRCm39) E69G probably damaging Het
Pdgfrb A T 18: 61,216,406 (GRCm39) D1088V possibly damaging Het
Peg12 A G 7: 62,113,386 (GRCm39) V237A probably benign Het
Phf8-ps T C 17: 33,285,941 (GRCm39) N287S probably benign Het
Piezo1 A G 8: 123,209,451 (GRCm39) F2371L probably benign Het
Podn T A 4: 107,880,570 (GRCm39) S27C probably damaging Het
Pom121l2 A G 13: 22,166,904 (GRCm39) M392V possibly damaging Het
Ppm1b A G 17: 85,301,630 (GRCm39) K170R probably damaging Het
Rab18 A T 18: 6,770,113 (GRCm39) probably null Het
Raet1d G A 10: 22,246,911 (GRCm39) A80T probably damaging Het
Rfx7 T A 9: 72,524,967 (GRCm39) V719E probably benign Het
Ror1 C T 4: 100,265,038 (GRCm39) Q171* probably null Het
Rufy4 G A 1: 74,180,106 (GRCm39) V454M possibly damaging Het
Ryr2 C T 13: 11,866,074 (GRCm39) G292D possibly damaging Het
Ryr3 G T 2: 112,611,410 (GRCm39) N2257K probably benign Het
Saal1 A G 7: 46,348,913 (GRCm39) F306S possibly damaging Het
Sap18 A G 14: 58,036,021 (GRCm39) N69S probably damaging Het
Sar1b A T 11: 51,670,514 (GRCm39) probably null Het
Serpina3n G T 12: 104,375,473 (GRCm39) V182L probably damaging Het
Setd3 A T 12: 108,084,513 (GRCm39) H279Q probably damaging Het
Slc18a2 C A 19: 59,264,937 (GRCm39) A307E possibly damaging Het
Slc4a10 A T 2: 62,064,725 (GRCm39) D193V probably damaging Het
Spire2 T C 8: 124,059,657 (GRCm39) C52R probably damaging Het
Syne2 A T 12: 76,121,353 (GRCm39) I5940F probably damaging Het
Sytl1 C T 4: 132,983,471 (GRCm39) S355N probably damaging Het
Tarbp1 C T 8: 127,154,853 (GRCm39) V1424I probably damaging Het
Tatdn3 A T 1: 190,781,477 (GRCm39) probably null Het
Tbpl1 T A 10: 22,583,576 (GRCm39) E131D probably damaging Het
Telo2 A T 17: 25,324,382 (GRCm39) M501K probably damaging Het
Terb1 A G 8: 105,179,331 (GRCm39) V619A probably benign Het
Tmem132e A G 11: 82,335,989 (GRCm39) T1024A probably benign Het
Tmem30a T C 9: 79,681,500 (GRCm39) D223G probably damaging Het
Tmprss11d A G 5: 86,487,413 (GRCm39) V19A probably damaging Het
Tnks A T 8: 35,318,260 (GRCm39) S872T probably damaging Het
Tnxb A G 17: 34,890,724 (GRCm39) S356G probably benign Het
Tob2 T C 15: 81,735,400 (GRCm39) K190E probably damaging Het
Togaram1 T C 12: 65,049,433 (GRCm39) V1240A possibly damaging Het
Trim13 T A 14: 61,842,335 (GRCm39) C117* probably null Het
Trpv4 G A 5: 114,772,666 (GRCm39) R308C probably damaging Het
Ttn C G 2: 76,585,676 (GRCm39) D21987H probably damaging Het
Ttn C A 2: 76,656,418 (GRCm39) probably null Het
Upp1 A T 11: 9,083,240 (GRCm39) M111L possibly damaging Het
Vmn1r206 A T 13: 22,804,358 (GRCm39) V283E probably damaging Het
Vmn2r79 G T 7: 86,651,634 (GRCm39) L344F probably benign Het
Vmn2r93 T G 17: 18,546,324 (GRCm39) I732S probably damaging Het
Vmn2r96 G T 17: 18,804,263 (GRCm39) M504I probably benign Het
Vps39 T C 2: 120,173,708 (GRCm39) Y147C probably damaging Het
Zbtb20 T A 16: 43,398,015 (GRCm39) C35S possibly damaging Het
Zfp871 A T 17: 32,993,751 (GRCm39) C475S probably damaging 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
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
R9224:Myom2 UTSW 8 15,178,804 (GRCm39) missense possibly damaging 0.89
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'- CTTGGAGTCCTTGATGTGACC -3'
(R):5'- TAGCTCTGAGTGCCATGCAG -3'

Sequencing Primer
(F):5'- GCAGAGTCAGCCATTCTTTG -3'
(R):5'- CCATGCAGGCTGAGTGG -3'
Posted On 2014-08-25