Incidental Mutation 'R7396:Myh2'
ID 573840
Institutional Source Beutler Lab
Gene Symbol Myh2
Ensembl Gene ENSMUSG00000033196
Gene Name myosin, heavy polypeptide 2, skeletal muscle, adult
Synonyms Myhs-f, Myhsf1, MHC2A, Myhs-f1, MyHC-IIa
MMRRC Submission 045478-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R7396 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 67061853-67088343 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 67085554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018641] [ENSMUST00000170159]
AlphaFold G3UW82
Predicted Effect probably null
Transcript: ENSMUST00000018641
SMART Domains Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 2.1e-16 PFAM
MYSc 80 786 N/A SMART
IQ 787 809 3.13e-3 SMART
IQ 813 835 3.14e2 SMART
low complexity region 850 862 N/A INTRINSIC
low complexity region 931 945 N/A INTRINSIC
Pfam:Myosin_tail_1 1075 1933 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170159
SMART Domains Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196

DomainStartEndE-ValueType
Pfam:Myosin_N 35 74 1.4e-14 PFAM
MYSc 80 786 N/A SMART
IQ 787 809 3.13e-3 SMART
IQ 813 835 3.14e2 SMART
Pfam:Myosin_tail_1 850 1931 4e-166 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830403N18Rik G T X: 55,184,140 (GRCm39) probably null Het
Abcb5 A G 12: 118,831,609 (GRCm39) Y1248H probably damaging Het
Acacb A G 5: 114,351,722 (GRCm39) D1153G possibly damaging Het
Acsm3 T A 7: 119,373,052 (GRCm39) L185H probably damaging Het
Actr1a G A 19: 46,368,068 (GRCm39) T293I probably benign Het
Adig T C 2: 158,347,836 (GRCm39) L50P unknown Het
Ankrd28 A G 14: 31,424,159 (GRCm39) S994P probably benign Het
Ankrd35 T A 3: 96,590,813 (GRCm39) D366E probably damaging Het
Aqr A T 2: 113,950,427 (GRCm39) Y927* probably null Het
Asxl2 T A 12: 3,492,529 (GRCm39) I38N probably damaging Het
Atp9b T C 18: 80,780,057 (GRCm39) I1092V Het
B4galnt1 A G 10: 127,007,485 (GRCm39) E462G possibly damaging Het
BC048671 T A 6: 90,280,273 (GRCm39) V63E probably damaging Het
Bod1l A G 5: 41,988,889 (GRCm39) V406A probably damaging Het
Btn1a1 T G 13: 23,645,668 (GRCm39) I234L probably benign Het
Camk2b A C 11: 5,928,432 (GRCm39) S436A probably benign Het
Cc2d1a A T 8: 84,870,374 (GRCm39) probably null Het
Ces1b G T 8: 93,789,757 (GRCm39) N390K probably benign Het
Chpf T C 1: 75,451,927 (GRCm39) Q671R probably benign Het
Cspg4b T A 13: 113,455,524 (GRCm39) S523R Het
Dbr1 C A 9: 99,465,443 (GRCm39) N340K probably damaging Het
Dram1 T A 10: 88,176,507 (GRCm39) T73S probably benign Het
Efemp1 A T 11: 28,817,501 (GRCm39) R39S possibly damaging Het
Eif2b5 T G 16: 20,324,887 (GRCm39) I515S possibly damaging Het
Eif2d A T 1: 131,094,111 (GRCm39) N434I probably benign Het
Ercc6 C T 14: 32,291,762 (GRCm39) T1042I probably benign Het
Etl4 C T 2: 20,803,449 (GRCm39) P1057L possibly damaging Het
Fbxw16 T A 9: 109,278,091 (GRCm39) N29I probably damaging Het
Fbxw18 T C 9: 109,517,954 (GRCm39) D344G probably benign Het
Fgf15 G T 7: 144,453,542 (GRCm39) V172L probably benign Het
Fmod T C 1: 133,967,978 (GRCm39) V6A probably benign Het
Furin C A 7: 80,047,862 (GRCm39) R86L probably benign Het
Gabrr1 T C 4: 33,160,207 (GRCm39) V297A probably damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Helb T C 10: 119,925,476 (GRCm39) D967G probably benign Het
Hmcn1 T C 1: 150,439,382 (GRCm39) T5601A possibly damaging Het
Hsbp1l1 G T 18: 80,276,634 (GRCm39) P70Q not run Het
Hsd17b1 T C 11: 100,970,033 (GRCm39) V155A probably damaging Het
Ireb2 T A 9: 54,789,617 (GRCm39) M97K possibly damaging Het
Kcnj6 C A 16: 94,563,306 (GRCm39) L397F probably benign Het
Lcorl A T 5: 46,014,801 (GRCm39) probably null Het
Lgi2 A T 5: 52,695,753 (GRCm39) I402N probably damaging Het
Lrat T A 3: 82,810,590 (GRCm39) R144* probably null Het
Mfhas1 G T 8: 36,057,353 (GRCm39) L609F probably damaging Het
Mink1 T A 11: 70,495,994 (GRCm39) I398K possibly damaging Het
Muc5ac A T 7: 141,362,152 (GRCm39) D1821V unknown Het
Ncor1 T C 11: 62,234,044 (GRCm39) E386G probably damaging Het
Ndufaf3 C T 9: 108,443,802 (GRCm39) V76M probably damaging Het
Neurod4 T C 10: 130,106,891 (GRCm39) T128A probably damaging Het
Ogfod1 T A 8: 94,765,615 (GRCm39) D59E probably benign Het
Or2j6 C T 7: 139,980,476 (GRCm39) R161H probably benign Het
Or2w1b T C 13: 21,300,477 (GRCm39) V205A probably benign Het
Or52n2b C T 7: 104,565,558 (GRCm39) S315N probably benign Het
Pcdh15 T A 10: 74,466,522 (GRCm39) V1513D probably benign Het
Pclo C A 5: 14,589,902 (GRCm39) T734K unknown Het
Phc2 A G 4: 128,641,954 (GRCm39) R759G probably benign Het
Plch1 A T 3: 63,606,375 (GRCm39) N1176K probably benign Het
Plec T A 15: 76,059,089 (GRCm39) Y3616F probably damaging Het
Ptpn11 G T 5: 121,282,707 (GRCm39) T426N probably benign Het
Rictor A G 15: 6,816,462 (GRCm39) T1245A not run Het
Rilp T C 11: 75,401,712 (GRCm39) V164A probably damaging Het
Rnf39 A T 17: 37,257,971 (GRCm39) T168S probably damaging Het
Rptor C G 11: 119,763,181 (GRCm39) Q922E probably benign Het
Sall1 A T 8: 89,759,396 (GRCm39) L236Q probably damaging Het
Skint7 A G 4: 111,845,324 (GRCm39) T379A probably benign Het
Spata22 C A 11: 73,236,702 (GRCm39) T336N probably damaging Het
Spata31 T C 13: 65,068,547 (GRCm39) S232P probably benign Het
Spink5 T A 18: 44,110,722 (GRCm39) C98S possibly damaging Het
Stard6 T C 18: 70,633,506 (GRCm39) V171A possibly damaging Het
Tex9 A T 9: 72,388,072 (GRCm39) probably null Het
Traf7 T C 17: 24,728,519 (GRCm39) D621G probably damaging Het
Trak1 C T 9: 121,277,973 (GRCm39) T353M possibly damaging Het
Trim68 A T 7: 102,327,569 (GRCm39) Y461* probably null Het
Usp1 A G 4: 98,814,688 (GRCm39) probably benign Het
Vmn2r42 T A 7: 8,195,641 (GRCm39) I502F probably benign Het
Wbp4 C A 14: 79,714,261 (GRCm39) G84C probably damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp787 A G 7: 6,135,106 (GRCm39) *382Q probably null Het
Zfp831 G T 2: 174,487,002 (GRCm39) C559F possibly damaging Het
Zgpat G C 2: 181,007,882 (GRCm39) A140P probably benign Het
Zscan4e T A 7: 11,041,002 (GRCm39) Y290F probably benign Het
Other mutations in Myh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Myh2 APN 11 67,076,059 (GRCm39) missense possibly damaging 0.88
IGL00330:Myh2 APN 11 67,084,266 (GRCm39) missense probably benign 0.06
IGL00423:Myh2 APN 11 67,088,171 (GRCm39) missense probably benign
IGL00429:Myh2 APN 11 67,071,616 (GRCm39) nonsense probably null
IGL00465:Myh2 APN 11 67,069,659 (GRCm39) splice site probably benign
IGL00671:Myh2 APN 11 67,084,183 (GRCm39) missense probably damaging 0.97
IGL00773:Myh2 APN 11 67,085,247 (GRCm39) missense probably benign
IGL00821:Myh2 APN 11 67,088,223 (GRCm39) utr 3 prime probably benign
IGL00900:Myh2 APN 11 67,070,210 (GRCm39) missense probably damaging 1.00
IGL01374:Myh2 APN 11 67,068,250 (GRCm39) missense probably benign 0.05
IGL01613:Myh2 APN 11 67,088,170 (GRCm39) missense probably benign 0.01
IGL01845:Myh2 APN 11 67,083,860 (GRCm39) missense probably benign 0.02
IGL01900:Myh2 APN 11 67,074,609 (GRCm39) missense probably benign 0.01
IGL01936:Myh2 APN 11 67,082,599 (GRCm39) missense possibly damaging 0.94
IGL02129:Myh2 APN 11 67,076,084 (GRCm39) missense probably benign 0.05
IGL02172:Myh2 APN 11 67,079,878 (GRCm39) missense possibly damaging 0.78
IGL02554:Myh2 APN 11 67,079,991 (GRCm39) missense probably benign 0.00
IGL02578:Myh2 APN 11 67,077,517 (GRCm39) missense probably benign 0.33
IGL03075:Myh2 APN 11 67,071,662 (GRCm39) missense probably benign 0.39
IGL03078:Myh2 APN 11 67,081,256 (GRCm39) missense probably benign
IGL03117:Myh2 APN 11 67,071,710 (GRCm39) missense possibly damaging 0.91
IGL03255:Myh2 APN 11 67,084,051 (GRCm39) missense probably damaging 1.00
IGL03266:Myh2 APN 11 67,067,150 (GRCm39) missense probably benign
IGL03366:Myh2 APN 11 67,074,349 (GRCm39) missense probably damaging 1.00
IGL03412:Myh2 APN 11 67,080,395 (GRCm39) missense probably benign 0.04
limp UTSW 11 67,083,330 (GRCm39) missense probably damaging 1.00
noodle UTSW 11 67,077,438 (GRCm39) missense probably benign
PIT4403001:Myh2 UTSW 11 67,077,533 (GRCm39) missense probably benign 0.22
PIT4508001:Myh2 UTSW 11 67,076,331 (GRCm39) missense probably benign 0.00
PIT4677001:Myh2 UTSW 11 67,072,818 (GRCm39) missense probably benign
R0039:Myh2 UTSW 11 67,069,103 (GRCm39) missense probably damaging 1.00
R0347:Myh2 UTSW 11 67,076,130 (GRCm39) splice site probably benign
R0389:Myh2 UTSW 11 67,071,647 (GRCm39) missense probably damaging 1.00
R0400:Myh2 UTSW 11 67,083,424 (GRCm39) splice site probably benign
R0512:Myh2 UTSW 11 67,079,504 (GRCm39) missense probably damaging 1.00
R0555:Myh2 UTSW 11 67,069,793 (GRCm39) missense probably damaging 1.00
R0746:Myh2 UTSW 11 67,064,257 (GRCm39) missense probably benign 0.00
R0842:Myh2 UTSW 11 67,070,350 (GRCm39) missense possibly damaging 0.83
R0893:Myh2 UTSW 11 67,077,334 (GRCm39) missense possibly damaging 0.82
R1218:Myh2 UTSW 11 67,083,351 (GRCm39) missense probably damaging 0.99
R1264:Myh2 UTSW 11 67,071,604 (GRCm39) missense probably damaging 0.96
R1398:Myh2 UTSW 11 67,076,113 (GRCm39) missense probably benign 0.14
R1774:Myh2 UTSW 11 67,064,300 (GRCm39) missense possibly damaging 0.96
R1800:Myh2 UTSW 11 67,079,764 (GRCm39) missense probably damaging 0.99
R1829:Myh2 UTSW 11 67,067,385 (GRCm39) missense probably damaging 0.98
R1840:Myh2 UTSW 11 67,077,313 (GRCm39) missense probably benign 0.16
R1888:Myh2 UTSW 11 67,071,676 (GRCm39) missense probably damaging 0.99
R1888:Myh2 UTSW 11 67,071,676 (GRCm39) missense probably damaging 0.99
R1969:Myh2 UTSW 11 67,080,004 (GRCm39) missense possibly damaging 0.67
R1971:Myh2 UTSW 11 67,080,004 (GRCm39) missense possibly damaging 0.67
R1985:Myh2 UTSW 11 67,071,740 (GRCm39) missense possibly damaging 0.65
R2021:Myh2 UTSW 11 67,082,545 (GRCm39) missense probably damaging 1.00
R2029:Myh2 UTSW 11 67,085,451 (GRCm39) missense possibly damaging 0.85
R2057:Myh2 UTSW 11 67,079,665 (GRCm39) critical splice donor site probably null
R2080:Myh2 UTSW 11 67,065,767 (GRCm39) critical splice acceptor site probably null
R2142:Myh2 UTSW 11 67,080,158 (GRCm39) missense probably damaging 1.00
R2215:Myh2 UTSW 11 67,082,563 (GRCm39) missense probably benign 0.35
R2225:Myh2 UTSW 11 67,084,555 (GRCm39) missense probably benign
R2274:Myh2 UTSW 11 67,081,184 (GRCm39) missense possibly damaging 0.84
R3018:Myh2 UTSW 11 67,070,410 (GRCm39) missense possibly damaging 0.67
R3113:Myh2 UTSW 11 67,076,012 (GRCm39) missense probably damaging 1.00
R3703:Myh2 UTSW 11 67,080,427 (GRCm39) missense probably benign 0.01
R4022:Myh2 UTSW 11 67,070,230 (GRCm39) nonsense probably null
R4081:Myh2 UTSW 11 67,081,256 (GRCm39) missense probably benign 0.11
R4191:Myh2 UTSW 11 67,068,226 (GRCm39) missense possibly damaging 0.81
R4291:Myh2 UTSW 11 67,071,985 (GRCm39) missense probably benign 0.01
R4292:Myh2 UTSW 11 67,085,723 (GRCm39) missense possibly damaging 0.46
R4424:Myh2 UTSW 11 67,083,551 (GRCm39) missense probably benign 0.01
R4524:Myh2 UTSW 11 67,067,096 (GRCm39) missense probably damaging 1.00
R4578:Myh2 UTSW 11 67,064,084 (GRCm39) missense possibly damaging 0.85
R4597:Myh2 UTSW 11 67,080,244 (GRCm39) missense probably benign 0.01
R4641:Myh2 UTSW 11 67,085,520 (GRCm39) missense probably damaging 1.00
R4672:Myh2 UTSW 11 67,079,303 (GRCm39) missense probably damaging 1.00
R4673:Myh2 UTSW 11 67,079,303 (GRCm39) missense probably damaging 1.00
R4804:Myh2 UTSW 11 67,077,328 (GRCm39) missense possibly damaging 0.78
R4818:Myh2 UTSW 11 67,067,081 (GRCm39) missense probably damaging 1.00
R4943:Myh2 UTSW 11 67,088,143 (GRCm39) missense probably damaging 1.00
R4958:Myh2 UTSW 11 67,083,785 (GRCm39) missense possibly damaging 0.83
R5139:Myh2 UTSW 11 67,070,174 (GRCm39) missense probably damaging 1.00
R5239:Myh2 UTSW 11 67,083,269 (GRCm39) missense probably benign 0.00
R5306:Myh2 UTSW 11 67,077,382 (GRCm39) missense probably damaging 1.00
R5492:Myh2 UTSW 11 67,071,701 (GRCm39) missense probably benign 0.20
R5503:Myh2 UTSW 11 67,064,275 (GRCm39) missense probably benign
R5646:Myh2 UTSW 11 67,079,638 (GRCm39) missense probably benign 0.07
R5750:Myh2 UTSW 11 67,082,254 (GRCm39) missense probably benign
R5806:Myh2 UTSW 11 67,072,141 (GRCm39) missense probably damaging 0.98
R5878:Myh2 UTSW 11 67,083,330 (GRCm39) missense probably damaging 1.00
R5892:Myh2 UTSW 11 67,076,002 (GRCm39) nonsense probably null
R5898:Myh2 UTSW 11 67,083,545 (GRCm39) missense possibly damaging 0.51
R6154:Myh2 UTSW 11 67,077,438 (GRCm39) missense probably benign
R6156:Myh2 UTSW 11 67,071,879 (GRCm39) missense probably damaging 0.98
R6236:Myh2 UTSW 11 67,081,157 (GRCm39) missense probably benign 0.00
R6349:Myh2 UTSW 11 67,083,829 (GRCm39) missense probably benign 0.04
R6441:Myh2 UTSW 11 67,085,437 (GRCm39) missense probably benign 0.00
R6548:Myh2 UTSW 11 67,077,438 (GRCm39) missense probably benign
R6681:Myh2 UTSW 11 67,069,174 (GRCm39) missense probably damaging 1.00
R6907:Myh2 UTSW 11 67,084,567 (GRCm39) missense probably damaging 1.00
R6925:Myh2 UTSW 11 67,084,044 (GRCm39) missense probably benign 0.00
R6969:Myh2 UTSW 11 67,088,092 (GRCm39) missense probably benign
R7172:Myh2 UTSW 11 67,079,527 (GRCm39) missense probably benign 0.00
R7257:Myh2 UTSW 11 67,071,976 (GRCm39) missense possibly damaging 0.70
R7286:Myh2 UTSW 11 67,079,195 (GRCm39) missense probably benign 0.23
R7323:Myh2 UTSW 11 67,088,191 (GRCm39) missense probably benign
R7468:Myh2 UTSW 11 67,083,368 (GRCm39) missense probably benign 0.01
R7585:Myh2 UTSW 11 67,070,237 (GRCm39) critical splice donor site probably null
R7709:Myh2 UTSW 11 67,085,690 (GRCm39) missense probably benign 0.00
R7859:Myh2 UTSW 11 67,077,526 (GRCm39) missense probably damaging 0.96
R7908:Myh2 UTSW 11 67,088,197 (GRCm39) missense probably benign
R8062:Myh2 UTSW 11 67,084,209 (GRCm39) nonsense probably null
R8065:Myh2 UTSW 11 67,072,170 (GRCm39) missense probably null 0.01
R8093:Myh2 UTSW 11 67,079,536 (GRCm39) missense probably damaging 1.00
R8123:Myh2 UTSW 11 67,064,135 (GRCm39) missense probably benign
R8235:Myh2 UTSW 11 67,083,824 (GRCm39) missense probably damaging 1.00
R8512:Myh2 UTSW 11 67,081,187 (GRCm39) missense probably benign 0.11
R8762:Myh2 UTSW 11 67,084,578 (GRCm39) missense probably damaging 1.00
R8777:Myh2 UTSW 11 67,083,398 (GRCm39) missense possibly damaging 0.67
R8777-TAIL:Myh2 UTSW 11 67,083,398 (GRCm39) missense possibly damaging 0.67
R8823:Myh2 UTSW 11 67,076,300 (GRCm39) missense probably damaging 1.00
R8927:Myh2 UTSW 11 67,079,509 (GRCm39) missense probably benign 0.00
R8928:Myh2 UTSW 11 67,079,509 (GRCm39) missense probably benign 0.00
R8978:Myh2 UTSW 11 67,080,323 (GRCm39) missense probably damaging 0.98
R8978:Myh2 UTSW 11 67,068,188 (GRCm39) missense probably damaging 0.96
R9228:Myh2 UTSW 11 67,077,522 (GRCm39) missense probably benign 0.11
R9332:Myh2 UTSW 11 67,070,209 (GRCm39) missense probably damaging 1.00
R9404:Myh2 UTSW 11 67,070,454 (GRCm39) missense probably damaging 1.00
R9430:Myh2 UTSW 11 67,070,359 (GRCm39) missense probably benign 0.01
R9445:Myh2 UTSW 11 67,069,754 (GRCm39) missense probably damaging 0.98
R9542:Myh2 UTSW 11 67,072,002 (GRCm39) missense possibly damaging 0.73
R9597:Myh2 UTSW 11 67,064,302 (GRCm39) missense possibly damaging 0.75
R9654:Myh2 UTSW 11 67,088,171 (GRCm39) missense probably benign
R9704:Myh2 UTSW 11 67,071,617 (GRCm39) missense possibly damaging 0.51
R9736:Myh2 UTSW 11 67,063,999 (GRCm39) missense probably benign 0.00
R9740:Myh2 UTSW 11 67,080,052 (GRCm39) missense probably damaging 0.99
X0026:Myh2 UTSW 11 67,065,848 (GRCm39) missense probably benign 0.10
X0065:Myh2 UTSW 11 67,067,085 (GRCm39) missense probably damaging 0.99
Z1088:Myh2 UTSW 11 67,071,589 (GRCm39) critical splice acceptor site probably benign
Z1088:Myh2 UTSW 11 67,082,275 (GRCm39) missense probably damaging 0.98
Z1177:Myh2 UTSW 11 67,084,084 (GRCm39) missense probably damaging 0.99
Z1177:Myh2 UTSW 11 67,066,997 (GRCm39) missense possibly damaging 0.86
Z1188:Myh2 UTSW 11 67,079,639 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAGTGGGAGCTACTGATTTC -3'
(R):5'- GTAAGTAAGCTCCTTCACTCGTC -3'

Sequencing Primer
(F):5'- TTCCTAATAAGGCCGCCATGATGG -3'
(R):5'- GTCTCTCGTGTTTGCGCAGAC -3'
Posted On 2019-09-13