Incidental Mutation 'R8094:Myom2'
ID 630080
Institutional Source Beutler Lab
Gene Symbol Myom2
Ensembl Gene ENSMUSG00000031461
Gene Name myomesin 2
Synonyms
MMRRC Submission 067526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R8094 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 15107653-15183410 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 15119418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 103 (R103L)
Ref Sequence ENSEMBL: ENSMUSP00000033842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033842]
AlphaFold Q14BI5
Predicted Effect possibly damaging
Transcript: ENSMUST00000033842
AA Change: R103L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: R103L

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.0%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik T A 8: 12,329,824 (GRCm39) L93H unknown Het
A2ml1 A G 6: 128,549,045 (GRCm39) Y246H probably damaging Het
Akap11 C A 14: 78,750,413 (GRCm39) C658F Het
Arid2 T G 15: 96,266,592 (GRCm39) S547A possibly damaging Het
Atf1 C A 15: 100,143,170 (GRCm39) D46E probably damaging Het
Brca2 T A 5: 150,459,634 (GRCm39) F303Y possibly damaging Het
Btbd18 T A 2: 84,498,260 (GRCm39) S633T possibly damaging Het
Btg4 T G 9: 51,030,445 (GRCm39) F182V probably benign Het
Cacna1e G A 1: 154,437,516 (GRCm39) S340F probably damaging Het
Camta2 A G 11: 70,576,903 (GRCm39) W41R probably damaging Het
Cbl A T 9: 44,074,696 (GRCm39) D455E probably benign Het
Ccdc162 A T 10: 41,488,864 (GRCm39) D1208E probably benign Het
Cd177 A T 7: 24,443,842 (GRCm39) M752K probably damaging Het
Cep290 A T 10: 100,380,793 (GRCm39) H100L possibly damaging Het
Chrnb2 T A 3: 89,668,698 (GRCm39) I206F probably damaging Het
Cyp2c40 A G 19: 39,791,009 (GRCm39) L274S probably benign Het
Cyp2c40 T A 19: 39,791,015 (GRCm39) Y272F probably benign Het
Cyp2d22 C A 15: 82,258,556 (GRCm39) A102S probably benign Het
Cyp51 C T 5: 4,136,490 (GRCm39) E435K probably benign Het
Dchs2 T C 3: 83,262,929 (GRCm39) F3066L probably benign Het
Disp1 C A 1: 182,869,192 (GRCm39) R1076L probably damaging Het
Dkk2 C T 3: 131,791,801 (GRCm39) A3V probably benign Het
Dnah7b T C 1: 46,165,964 (GRCm39) F543S probably benign Het
Dpt A T 1: 164,624,481 (GRCm39) S61C probably damaging Het
Drg2 A T 11: 60,353,096 (GRCm39) Y243F probably damaging Het
Dsg2 A G 18: 20,716,061 (GRCm39) probably benign Het
Dst T G 1: 34,228,040 (GRCm39) L1878V possibly damaging Het
F5 A G 1: 164,036,509 (GRCm39) Y1890C probably benign Het
Fat1 T C 8: 45,405,739 (GRCm39) V830A probably damaging Het
Fat2 C T 11: 55,186,965 (GRCm39) D1294N probably benign Het
Fbxo15 A G 18: 84,983,618 (GRCm39) Y322C probably benign Het
Fcsk A G 8: 111,622,604 (GRCm39) F108S probably damaging Het
Fhit A T 14: 10,751,666 (GRCm38) N7K unknown Het
Gabrb2 A G 11: 42,488,370 (GRCm39) I279V probably damaging Het
Galk2 T C 2: 125,773,189 (GRCm39) F207S probably damaging Het
Gtpbp3 C T 8: 71,941,480 (GRCm39) L17F possibly damaging Het
Gucy2c T A 6: 136,714,446 (GRCm39) D460V probably benign Het
Herc1 G A 9: 66,400,462 (GRCm39) V4329I probably damaging Het
Iqcn T C 8: 71,162,067 (GRCm39) V420A probably benign Het
Kirrel3 G A 9: 34,946,460 (GRCm39) V740M probably damaging Het
Macf1 C A 4: 123,263,660 (GRCm39) V6956L probably damaging Het
Mill1 C T 7: 17,989,835 (GRCm39) A39V probably benign Het
Mkln1 T A 6: 31,469,588 (GRCm39) Y599* probably null Het
Mrpl14 T A 17: 46,009,039 (GRCm39) L46Q possibly damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndst2 A T 14: 20,778,232 (GRCm39) V449D probably damaging Het
Nell1 T A 7: 49,770,335 (GRCm39) H131Q probably benign Het
Nos3 G C 5: 24,572,218 (GRCm39) R97P probably benign Het
Npc1 A T 18: 12,327,297 (GRCm39) F1099L probably benign Het
Nxpe5 T A 5: 138,249,802 (GRCm39) W531R probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1j1 A T 2: 36,702,330 (GRCm39) L258H probably damaging Het
Or4c110 T C 2: 88,832,712 (GRCm39) probably benign Het
Or5b98 A T 19: 12,931,366 (GRCm39) T138S probably benign Het
Or6c210 A G 10: 129,495,933 (GRCm39) D86G probably damaging Het
Osmr T C 15: 6,845,102 (GRCm39) N889S possibly damaging Het
Oxct2b A G 4: 123,010,301 (GRCm39) I74V possibly damaging Het
Pakap A G 4: 57,886,319 (GRCm39) T859A possibly damaging Het
Phldb3 C A 7: 24,326,134 (GRCm39) A572D probably damaging Het
Pigr A G 1: 130,774,247 (GRCm39) E409G probably damaging Het
Ptprs T C 17: 56,735,947 (GRCm39) E674G probably benign Het
Ptpru G A 4: 131,520,903 (GRCm39) T801I possibly damaging Het
Ralgapa1 T A 12: 55,829,631 (GRCm39) D200V probably damaging Het
Rb1cc1 A T 1: 6,333,448 (GRCm39) R1429* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnpep A T 1: 135,211,514 (GRCm39) L78Q probably damaging Het
Rtn2 A T 7: 19,027,791 (GRCm39) I394F probably damaging Het
Satb2 A T 1: 56,870,623 (GRCm39) V572D possibly damaging Het
Sds T C 5: 120,617,001 (GRCm39) probably benign Het
Serpina10 TTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCC 12: 103,595,032 (GRCm39) probably benign Het
Sgo2a T C 1: 58,056,300 (GRCm39) I828T possibly damaging Het
Slc25a33 T A 4: 149,840,609 (GRCm39) K79N probably benign Het
Slc25a51 A C 4: 45,399,783 (GRCm39) F136V probably benign Het
Slfn14 T A 11: 83,174,119 (GRCm39) K291* probably null Het
Sp100 A G 1: 85,624,819 (GRCm39) K403E possibly damaging Het
Spaca1 C T 4: 34,049,837 (GRCm39) E54K possibly damaging Het
Sympk T G 7: 18,787,373 (GRCm39) probably null Het
Syne1 A T 10: 5,067,031 (GRCm39) V7078D probably damaging Het
Tas2r121 T A 6: 132,677,772 (GRCm39) I67L probably benign Het
Tha1 T C 11: 117,759,323 (GRCm39) K389E probably benign Het
Thbs2 T A 17: 14,900,584 (GRCm39) Q541L probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem94 T C 11: 115,679,218 (GRCm39) probably null Het
Tnfsf13 A G 11: 69,575,983 (GRCm39) C35R probably damaging Het
Trcg1 C A 9: 57,149,564 (GRCm39) Q379K probably benign Het
Ubr4 T C 4: 139,168,007 (GRCm39) S1507P probably damaging Het
Uckl1 A G 2: 181,215,049 (GRCm39) I268T probably damaging Het
Uvrag T C 7: 98,641,174 (GRCm39) K289E possibly damaging Het
Vmn2r104 C A 17: 20,250,483 (GRCm39) C596F possibly damaging Het
Vmn2r11 A T 5: 109,201,626 (GRCm39) F293I probably damaging Het
Vps13b T A 15: 35,669,052 (GRCm39) probably null Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zscan4f T A 7: 11,135,154 (GRCm39) C187S possibly 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
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
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'- AAAACGTTGTTTGGCTTTTCCC -3'
(R):5'- ACGCCAGATTGTCTTCCACC -3'

Sequencing Primer
(F):5'- GTTGTTTGGCTTTTCCCCATCATC -3'
(R):5'- AGGAGCAGCCCACGGTTAG -3'
Posted On 2020-06-30