Incidental Mutation 'R0645:Myom2'
ID 57064
Institutional Source Beutler Lab
Gene Symbol Myom2
Ensembl Gene ENSMUSG00000031461
Gene Name myomesin 2
Synonyms
MMRRC Submission 038830-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R0645 (G1)
Quality Score 158
Status Validated
Chromosome 8
Chromosomal Location 15057653-15133541 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15117698 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1094 (D1094E)
Ref Sequence ENSEMBL: ENSMUSP00000033842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033842]
AlphaFold Q14BI5
Predicted Effect probably damaging
Transcript: ENSMUST00000033842
AA Change: D1094E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: D1094E

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
Meta Mutation Damage Score 0.4002 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik C T 2: 111,214,583 (GRCm38) probably null Het
Adam18 G T 8: 24,672,120 (GRCm38) Y46* probably null Het
Adam26b A C 8: 43,520,487 (GRCm38) C493G probably damaging Het
Ak5 A T 3: 152,653,615 (GRCm38) L182Q probably damaging Het
Akt1s1 T C 7: 44,849,221 (GRCm38) probably benign Het
Amhr2 G T 15: 102,446,428 (GRCm38) G133C probably damaging Het
Btbd9 A T 17: 30,524,967 (GRCm38) L187Q probably damaging Het
Ccdc117 A T 11: 5,534,385 (GRCm38) probably benign Het
Ccdc138 A T 10: 58,575,720 (GRCm38) I637F probably damaging Het
Ccdc162 A G 10: 41,586,411 (GRCm38) probably benign Het
Cdc25b C A 2: 131,191,613 (GRCm38) H157Q probably benign Het
Cdon A G 9: 35,477,083 (GRCm38) probably null Het
Cdt1 G A 8: 122,572,145 (GRCm38) probably benign Het
Cep350 C T 1: 155,940,712 (GRCm38) probably null Het
Cfb T C 17: 34,860,016 (GRCm38) K831R probably benign Het
Cldn4 C A 5: 134,946,791 (GRCm38) probably benign Het
Cntnap5b T C 1: 100,072,042 (GRCm38) probably benign Het
Cyp27b1 T G 10: 127,049,098 (GRCm38) S77A probably benign Het
Dlc1 T C 8: 36,574,049 (GRCm38) D1342G possibly damaging Het
Dlgap4 A G 2: 156,761,879 (GRCm38) H887R probably damaging Het
Duox2 A G 2: 122,292,658 (GRCm38) I503T probably damaging Het
Eml4 T C 17: 83,463,493 (GRCm38) probably benign Het
Ermap A G 4: 119,185,691 (GRCm38) S212P probably benign Het
Esrrg T A 1: 188,043,341 (GRCm38) C22S probably benign Het
Evx2 T A 2: 74,657,894 (GRCm38) Y194F possibly damaging Het
Fbn2 T G 18: 58,058,389 (GRCm38) D1554A probably damaging Het
Flrt1 G A 19: 7,097,143 (GRCm38) probably benign Het
Fndc5 A G 4: 129,139,837 (GRCm38) probably benign Het
Frem1 A T 4: 82,989,166 (GRCm38) I837N probably damaging Het
Fzd10 G T 5: 128,602,598 (GRCm38) A461S possibly damaging Het
Ganab T A 19: 8,911,113 (GRCm38) Y511N probably damaging Het
Gbp7 A G 3: 142,538,165 (GRCm38) probably null Het
Gm5919 T A 9: 83,883,383 (GRCm38) C91S unknown Het
Gpr31b A T 17: 13,052,206 (GRCm38) C25* probably null Het
Grb10 A G 11: 11,936,755 (GRCm38) S505P probably damaging Het
Grm4 A T 17: 27,435,209 (GRCm38) V542E probably damaging Het
Gsta5 T C 9: 78,299,021 (GRCm38) I75T possibly damaging Het
Hivep3 G A 4: 120,097,334 (GRCm38) R949H possibly damaging Het
Hycc1 C T 5: 23,979,508 (GRCm38) G242D probably damaging Het
Invs A T 4: 48,407,653 (GRCm38) M543L probably benign Het
Kcnk2 T C 1: 189,256,730 (GRCm38) probably null Het
Kdm6b A T 11: 69,405,018 (GRCm38) S808T unknown Het
Klhl30 C T 1: 91,355,506 (GRCm38) R277W probably damaging Het
Lama1 A G 17: 67,773,712 (GRCm38) Q1245R probably benign Het
Lingo3 G T 10: 80,835,335 (GRCm38) H254N probably benign Het
Lzts1 A T 8: 69,135,740 (GRCm38) H521Q possibly damaging Het
Map3k19 A C 1: 127,822,182 (GRCm38) I1144S possibly damaging Het
Mast2 A G 4: 116,307,987 (GRCm38) S1411P probably damaging Het
Mast2 T C 4: 116,312,846 (GRCm38) probably benign Het
Mesp1 G T 7: 79,792,580 (GRCm38) S225R possibly damaging Het
Micu1 A G 10: 59,839,681 (GRCm38) T366A possibly damaging Het
Mideas G T 12: 84,158,303 (GRCm38) N834K possibly damaging Het
Mknk2 T C 10: 80,671,908 (GRCm38) probably null Het
Msh5 A G 17: 35,039,223 (GRCm38) L309P probably damaging Het
Myo7b T C 18: 31,994,909 (GRCm38) I577V probably benign Het
Nedd1 T C 10: 92,691,831 (GRCm38) probably null Het
Neu4 T C 1: 94,022,469 (GRCm38) L50S probably damaging Het
Noa1 T C 5: 77,309,875 (GRCm38) Y61C probably benign Het
Nr1h4 A T 10: 89,506,528 (GRCm38) M30K probably benign Het
Nsd3 A G 8: 25,709,069 (GRCm38) I1219V probably benign Het
Nup188 T A 2: 30,343,466 (GRCm38) probably null Het
Or10ag2 T A 2: 87,418,268 (GRCm38) Y71* probably null Het
Or5al5 A G 2: 86,131,034 (GRCm38) S210P probably damaging Het
Or6c208 T A 10: 129,388,293 (GRCm38) I220N possibly damaging Het
Or6k2 A T 1: 174,159,354 (GRCm38) T194S probably benign Het
Pbk G A 14: 65,813,796 (GRCm38) probably benign Het
Pcnx2 G A 8: 125,760,720 (GRCm38) T1848M possibly damaging Het
Pdzd7 C T 19: 45,045,475 (GRCm38) G57R possibly damaging Het
Pik3r4 C A 9: 105,669,187 (GRCm38) probably benign Het
Plce1 A G 19: 38,777,989 (GRCm38) S2153G probably damaging Het
Pphln1 G A 15: 93,420,311 (GRCm38) V34M possibly damaging Het
Prrc2a T C 17: 35,156,332 (GRCm38) D1114G probably damaging Het
Prss16 T C 13: 22,009,376 (GRCm38) probably benign Het
Rtp3 T C 9: 110,987,100 (GRCm38) K128E probably damaging Het
Scn3a T A 2: 65,524,850 (GRCm38) I241F possibly damaging Het
Setd1a G A 7: 127,787,210 (GRCm38) V336I probably damaging Het
Sfpq A G 4: 127,022,969 (GRCm38) I320V possibly damaging Het
Skint5 A T 4: 113,763,482 (GRCm38) D678E unknown Het
Slc12a9 G A 5: 137,315,376 (GRCm38) P774S probably benign Het
Slc25a54 C G 3: 109,112,165 (GRCm38) L362V possibly damaging Het
Smarcd1 A G 15: 99,707,386 (GRCm38) probably null Het
Spata31e5 T A 1: 28,776,930 (GRCm38) N674Y probably damaging Het
Suco A T 1: 161,834,114 (GRCm38) M916K probably damaging Het
Tiam2 T C 17: 3,514,698 (GRCm38) S1404P possibly damaging Het
Topors T C 4: 40,260,333 (GRCm38) T984A unknown Het
Trabd2b A T 4: 114,586,570 (GRCm38) K308M probably damaging Het
Trmo A T 4: 46,377,083 (GRCm38) probably benign Het
Trpc3 A T 3: 36,671,505 (GRCm38) D107E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Uggt2 A C 14: 119,057,598 (GRCm38) Y539D probably benign Het
Wwc2 T G 8: 47,900,639 (GRCm38) probably benign Het
Zdbf2 T A 1: 63,304,950 (GRCm38) D829E possibly damaging Het
Other mutations in Myom2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Myom2 APN 8 15,069,490 (GRCm38) missense probably damaging 1.00
IGL00426:Myom2 APN 8 15,069,502 (GRCm38) missense probably benign 0.00
IGL00503:Myom2 APN 8 15,114,289 (GRCm38) splice site probably null
IGL01515:Myom2 APN 8 15,122,655 (GRCm38) missense probably benign 0.15
IGL01649:Myom2 APN 8 15,113,755 (GRCm38) missense probably benign 0.24
IGL01658:Myom2 APN 8 15,077,880 (GRCm38) missense probably damaging 1.00
IGL01786:Myom2 APN 8 15,106,330 (GRCm38) missense probably damaging 0.99
IGL01924:Myom2 APN 8 15,069,685 (GRCm38) missense probably benign 0.37
IGL01929:Myom2 APN 8 15,117,698 (GRCm38) missense probably damaging 0.96
IGL02016:Myom2 APN 8 15,125,195 (GRCm38) missense probably benign 0.01
IGL02511:Myom2 APN 8 15,065,743 (GRCm38) missense probably benign
IGL02558:Myom2 APN 8 15,114,237 (GRCm38) missense probably benign 0.31
IGL02944:Myom2 APN 8 15,104,065 (GRCm38) critical splice acceptor site probably null
IGL03052:Myom2 APN 8 15,123,442 (GRCm38) splice site probably benign
IGL03195:Myom2 APN 8 15,111,844 (GRCm38) nonsense probably null
IGL03288:Myom2 APN 8 15,122,679 (GRCm38) missense probably damaging 0.99
IGL03402:Myom2 APN 8 15,065,731 (GRCm38) missense probably benign
yomama UTSW 8 15,132,895 (GRCm38) missense probably benign 0.10
yoyoma UTSW 8 15,132,667 (GRCm38) missense probably damaging 0.99
R0069:Myom2 UTSW 8 15,117,624 (GRCm38) missense probably benign
R0116:Myom2 UTSW 8 15,117,633 (GRCm38) missense probably damaging 1.00
R0131:Myom2 UTSW 8 15,083,329 (GRCm38) missense probably damaging 0.98
R0373:Myom2 UTSW 8 15,098,419 (GRCm38) missense possibly damaging 0.91
R0463:Myom2 UTSW 8 15,104,123 (GRCm38) missense probably benign 0.09
R0544:Myom2 UTSW 8 15,069,796 (GRCm38) missense probably damaging 1.00
R0629:Myom2 UTSW 8 15,069,783 (GRCm38) missense probably damaging 0.98
R0634:Myom2 UTSW 8 15,119,216 (GRCm38) splice site probably benign
R0730:Myom2 UTSW 8 15,099,326 (GRCm38) missense probably benign 0.00
R0744:Myom2 UTSW 8 15,132,924 (GRCm38) nonsense probably null
R0836:Myom2 UTSW 8 15,132,924 (GRCm38) nonsense probably null
R1033:Myom2 UTSW 8 15,108,934 (GRCm38) missense probably benign 0.04
R1103:Myom2 UTSW 8 15,110,827 (GRCm38) missense probably benign 0.22
R1110:Myom2 UTSW 8 15,122,413 (GRCm38) missense probably benign 0.44
R1208:Myom2 UTSW 8 15,084,631 (GRCm38) missense probably damaging 1.00
R1208:Myom2 UTSW 8 15,084,631 (GRCm38) missense probably damaging 1.00
R1353:Myom2 UTSW 8 15,106,424 (GRCm38) missense probably damaging 1.00
R1530:Myom2 UTSW 8 15,122,384 (GRCm38) missense probably damaging 1.00
R1544:Myom2 UTSW 8 15,104,059 (GRCm38) splice site probably benign
R1576:Myom2 UTSW 8 15,084,556 (GRCm38) missense probably damaging 1.00
R1758:Myom2 UTSW 8 15,065,795 (GRCm38) missense probably benign 0.00
R1884:Myom2 UTSW 8 15,114,278 (GRCm38) missense probably benign 0.01
R1908:Myom2 UTSW 8 15,081,023 (GRCm38) missense probably damaging 1.00
R1962:Myom2 UTSW 8 15,132,599 (GRCm38) splice site probably null
R1977:Myom2 UTSW 8 15,085,263 (GRCm38) missense possibly damaging 0.47
R2018:Myom2 UTSW 8 15,131,151 (GRCm38) missense probably damaging 1.00
R2049:Myom2 UTSW 8 15,106,379 (GRCm38) missense probably damaging 0.97
R2155:Myom2 UTSW 8 15,084,555 (GRCm38) missense probably damaging 0.98
R2314:Myom2 UTSW 8 15,063,927 (GRCm38) missense probably damaging 0.99
R2350:Myom2 UTSW 8 15,108,835 (GRCm38) missense probably benign 0.09
R2358:Myom2 UTSW 8 15,112,018 (GRCm38) missense possibly damaging 0.68
R2904:Myom2 UTSW 8 15,098,348 (GRCm38) missense probably benign 0.00
R3418:Myom2 UTSW 8 15,085,294 (GRCm38) missense probably benign 0.01
R3606:Myom2 UTSW 8 15,069,775 (GRCm38) missense probably damaging 1.00
R3607:Myom2 UTSW 8 15,069,775 (GRCm38) missense probably damaging 1.00
R3735:Myom2 UTSW 8 15,069,676 (GRCm38) missense probably benign 0.01
R3756:Myom2 UTSW 8 15,102,650 (GRCm38) missense probably benign 0.11
R3902:Myom2 UTSW 8 15,104,165 (GRCm38) missense probably benign
R3951:Myom2 UTSW 8 15,084,556 (GRCm38) missense probably benign 0.35
R4240:Myom2 UTSW 8 15,132,895 (GRCm38) missense probably benign 0.10
R4361:Myom2 UTSW 8 15,112,018 (GRCm38) missense possibly damaging 0.68
R4581:Myom2 UTSW 8 15,106,459 (GRCm38) missense probably benign 0.02
R4736:Myom2 UTSW 8 15,081,271 (GRCm38) missense probably damaging 0.99
R5010:Myom2 UTSW 8 15,083,310 (GRCm38) missense probably damaging 0.98
R5108:Myom2 UTSW 8 15,132,667 (GRCm38) missense probably damaging 0.99
R5370:Myom2 UTSW 8 15,099,343 (GRCm38) missense probably benign 0.10
R5427:Myom2 UTSW 8 15,113,764 (GRCm38) missense probably benign 0.03
R5498:Myom2 UTSW 8 15,129,142 (GRCm38) missense probably benign 0.01
R5504:Myom2 UTSW 8 15,128,879 (GRCm38) missense probably damaging 1.00
R5567:Myom2 UTSW 8 15,102,546 (GRCm38) missense probably benign 0.01
R5743:Myom2 UTSW 8 15,080,914 (GRCm38) missense possibly damaging 0.82
R5745:Myom2 UTSW 8 15,122,705 (GRCm38) missense probably benign 0.01
R5844:Myom2 UTSW 8 15,131,182 (GRCm38) critical splice donor site probably null
R5854:Myom2 UTSW 8 15,108,478 (GRCm38) missense probably benign
R6141:Myom2 UTSW 8 15,063,903 (GRCm38) missense probably damaging 1.00
R6209:Myom2 UTSW 8 15,104,173 (GRCm38) missense possibly damaging 0.76
R6248:Myom2 UTSW 8 15,098,472 (GRCm38) splice site probably null
R6378:Myom2 UTSW 8 15,099,356 (GRCm38) missense probably benign 0.11
R6829:Myom2 UTSW 8 15,122,643 (GRCm38) nonsense probably null
R6913:Myom2 UTSW 8 15,065,710 (GRCm38) missense probably benign
R6957:Myom2 UTSW 8 15,117,741 (GRCm38) missense probably null 0.42
R6958:Myom2 UTSW 8 15,117,741 (GRCm38) missense probably null 0.42
R6960:Myom2 UTSW 8 15,117,741 (GRCm38) missense probably null 0.42
R6961:Myom2 UTSW 8 15,117,741 (GRCm38) missense probably null 0.42
R6962:Myom2 UTSW 8 15,117,741 (GRCm38) missense probably null 0.42
R6999:Myom2 UTSW 8 15,084,531 (GRCm38) missense probably benign 0.22
R7148:Myom2 UTSW 8 15,084,577 (GRCm38) missense possibly damaging 0.72
R7210:Myom2 UTSW 8 15,104,114 (GRCm38) missense probably damaging 1.00
R7298:Myom2 UTSW 8 15,098,411 (GRCm38) missense probably damaging 1.00
R7463:Myom2 UTSW 8 15,117,679 (GRCm38) missense probably null 0.94
R7535:Myom2 UTSW 8 15,117,679 (GRCm38) missense probably damaging 1.00
R7573:Myom2 UTSW 8 15,122,450 (GRCm38) missense probably damaging 1.00
R7590:Myom2 UTSW 8 15,117,679 (GRCm38) missense probably damaging 1.00
R7690:Myom2 UTSW 8 15,111,717 (GRCm38) critical splice acceptor site probably null
R7794:Myom2 UTSW 8 15,083,259 (GRCm38) missense probably damaging 1.00
R7822:Myom2 UTSW 8 15,108,454 (GRCm38) missense probably benign
R7948:Myom2 UTSW 8 15,085,306 (GRCm38) missense probably benign 0.00
R8094:Myom2 UTSW 8 15,069,418 (GRCm38) missense possibly damaging 0.94
R8268:Myom2 UTSW 8 15,129,157 (GRCm38) missense probably damaging 1.00
R8292:Myom2 UTSW 8 15,132,888 (GRCm38) missense probably benign 0.01
R8514:Myom2 UTSW 8 15,125,153 (GRCm38) missense possibly damaging 0.65
R8539:Myom2 UTSW 8 15,114,254 (GRCm38) missense probably benign 0.01
R8790:Myom2 UTSW 8 15,119,242 (GRCm38) missense probably damaging 1.00
R8824:Myom2 UTSW 8 15,114,169 (GRCm38) missense possibly damaging 0.82
R8895:Myom2 UTSW 8 15,102,589 (GRCm38) nonsense probably null
R9024:Myom2 UTSW 8 15,063,936 (GRCm38) missense probably damaging 1.00
R9129:Myom2 UTSW 8 15,104,068 (GRCm38) missense probably damaging 1.00
R9224:Myom2 UTSW 8 15,128,804 (GRCm38) missense possibly damaging 0.89
R9237:Myom2 UTSW 8 15,102,591 (GRCm38) missense possibly damaging 0.85
R9321:Myom2 UTSW 8 15,122,464 (GRCm38) missense possibly damaging 0.91
R9341:Myom2 UTSW 8 15,084,633 (GRCm38) missense probably damaging 0.97
R9343:Myom2 UTSW 8 15,084,633 (GRCm38) missense probably damaging 0.97
R9375:Myom2 UTSW 8 15,099,210 (GRCm38) missense probably damaging 1.00
R9455:Myom2 UTSW 8 15,106,293 (GRCm38) missense probably benign 0.31
R9563:Myom2 UTSW 8 15,108,399 (GRCm38) nonsense probably null
R9565:Myom2 UTSW 8 15,108,399 (GRCm38) nonsense probably null
RF001:Myom2 UTSW 8 15,081,418 (GRCm38) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- TGGACACAGAGTTTCATCATGTCAGTC -3'
(R):5'- AAGCCACCACTTACCTTGTTTCCGTAG -3'

Sequencing Primer
(F):5'- AGAGTTTCATCATGTCAGTCTCTGTG -3'
(R):5'- TCTAGGACAGCCTTGAATGC -3'
Posted On 2013-07-11