Incidental Mutation 'R5898:Myh2'
ID 457679
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 044097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # R5898 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 67061853-67088343 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 67083545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 1476 (A1476E)
Ref Sequence ENSEMBL: ENSMUSP00000129544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018641] [ENSMUST00000170159]
AlphaFold G3UW82
Predicted Effect possibly damaging
Transcript: ENSMUST00000018641
AA Change: A1476E

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: A1476E

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 noncoding transcript
Transcript: ENSMUST00000145346
Predicted Effect possibly damaging
Transcript: ENSMUST00000170159
AA Change: A1476E

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: A1476E

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (86/90)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G T 10: 100,448,762 (GRCm39) R158L possibly damaging Het
1700017N19Rik G A 10: 100,451,070 (GRCm39) M179I probably benign Het
Abhd12 T C 2: 150,681,698 (GRCm39) I231V possibly damaging Het
Adsl A G 15: 80,845,554 (GRCm39) probably null Het
Ahnak C A 19: 8,991,131 (GRCm39) N4138K possibly damaging Het
Ahnak T C 19: 8,995,575 (GRCm39) S5620P probably damaging Het
Akap13 C T 7: 75,378,894 (GRCm39) T2145I probably damaging Het
Alpk2 T A 18: 65,440,694 (GRCm39) Q700L probably damaging Het
Apobec1 T C 6: 122,557,732 (GRCm39) Y159C probably damaging Het
Atg9a T C 1: 75,162,916 (GRCm39) T395A probably damaging Het
Atp6v1f A G 6: 29,467,957 (GRCm39) I48V probably benign Het
BC051665 A C 13: 60,930,518 (GRCm39) V278G probably damaging Het
Bicd1 A T 6: 149,415,201 (GRCm39) H638L probably damaging Het
Cacna2d4 A G 6: 119,251,192 (GRCm39) Y460C probably damaging Het
Ccdc157 C A 11: 4,094,538 (GRCm39) R496L probably benign Het
Cdcp3 T G 7: 130,843,696 (GRCm39) probably null Het
Cep44 C G 8: 56,994,056 (GRCm39) V174L probably damaging Het
Clca3a1 G T 3: 144,722,522 (GRCm39) F283L possibly damaging Het
Csk T C 9: 57,537,585 (GRCm39) T110A probably benign Het
Cspg4 T A 9: 56,792,506 (GRCm39) probably null Het
Cutc A G 19: 43,748,468 (GRCm39) I124V probably benign Het
Cyp2d9 A G 15: 82,339,725 (GRCm39) T104A probably benign Het
Cyp2j9 G T 4: 96,465,951 (GRCm39) T294K probably benign Het
D630003M21Rik T A 2: 158,046,577 (GRCm39) probably null Het
Dcaf15 G T 8: 84,825,081 (GRCm39) F450L probably damaging Het
Ddhd1 A T 14: 45,840,125 (GRCm39) I723K probably damaging Het
Dnah17 C T 11: 118,005,039 (GRCm39) A782T probably benign Het
Dnah3 T C 7: 119,677,724 (GRCm39) D399G probably benign Het
Dync2h1 T C 9: 7,148,717 (GRCm39) N909S probably benign Het
Erbin A G 13: 103,975,813 (GRCm39) probably null Het
Fanci G A 7: 79,083,069 (GRCm39) V682I probably benign Het
Fap A T 2: 62,403,847 (GRCm39) F9L probably benign Het
Fat3 T C 9: 15,849,757 (GRCm39) I3882V probably benign Het
Fkbp15 A T 4: 62,244,294 (GRCm39) probably null Het
Fsd2 T C 7: 81,186,975 (GRCm39) Y601C probably damaging Het
Gm5900 T C 7: 104,599,468 (GRCm39) noncoding transcript Het
Gramd4 G T 15: 85,984,985 (GRCm39) G82V probably damaging Het
Hc C T 2: 34,887,449 (GRCm39) V1352I probably benign Het
Hsph1 A T 5: 149,548,623 (GRCm39) N466K probably damaging Het
Ice2 T A 9: 69,315,544 (GRCm39) D133E probably benign Het
Ifi213 T C 1: 173,396,545 (GRCm39) M510V probably benign Het
Itpkb T G 1: 180,248,880 (GRCm39) L861R probably damaging Het
Kbtbd3 T A 9: 4,330,476 (GRCm39) D283E probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Masp1 T A 16: 23,310,677 (GRCm39) I252F probably damaging Het
Megf11 G T 9: 64,593,246 (GRCm39) C586F probably damaging Het
Myo18b A T 5: 112,950,196 (GRCm39) probably null Het
Naip6 A T 13: 100,435,829 (GRCm39) V898E possibly damaging Het
Nav1 T C 1: 135,512,884 (GRCm39) M59V probably benign Het
Nlrp3 A T 11: 59,437,678 (GRCm39) Y119F probably benign Het
Oxa1l T A 14: 54,600,758 (GRCm39) I77N possibly damaging Het
Pcdhb8 T A 18: 37,490,537 (GRCm39) D738E possibly damaging Het
Pdia5 A T 16: 35,243,335 (GRCm39) W269R probably damaging Het
Peak1 T A 9: 56,114,622 (GRCm39) T1440S probably benign Het
Piezo1 A G 8: 123,214,682 (GRCm39) V1547A probably benign Het
Pkp1 T C 1: 135,810,259 (GRCm39) Y437C probably damaging Het
Pla2r1 T C 2: 60,253,104 (GRCm39) D1329G probably damaging Het
Ppip5k2 T C 1: 97,671,887 (GRCm39) probably benign Het
Prrg4 C T 2: 104,675,378 (GRCm39) S75N probably benign Het
Psmb9 T A 17: 34,401,266 (GRCm39) I198F probably damaging Het
Rcbtb2 T A 14: 73,399,405 (GRCm39) L23* probably null Het
Sbno1 A T 5: 124,524,854 (GRCm39) probably benign Het
Scn3a T C 2: 65,345,039 (GRCm39) E483G probably damaging Het
Sdccag8 T A 1: 176,652,388 (GRCm39) D46E probably benign Het
Selenov A G 7: 27,987,579 (GRCm39) F293L probably damaging Het
Septin2 A C 1: 93,407,023 (GRCm39) D20A probably benign Het
Shc1 T A 3: 89,334,274 (GRCm39) Y313* probably null Het
Siglec1 T A 2: 130,915,553 (GRCm39) Y1346F probably damaging Het
Slc22a5 T A 11: 53,764,559 (GRCm39) I296F probably damaging Het
Slc9c1 A G 16: 45,365,123 (GRCm39) N152S probably damaging Het
Smoc1 C T 12: 81,151,531 (GRCm39) R83* probably null Het
Ssx2ip A G 3: 146,133,586 (GRCm39) D227G possibly damaging Het
Tbrg4 T C 11: 6,567,372 (GRCm39) D576G probably damaging Het
Tbx20 T A 9: 24,670,155 (GRCm39) Y226F probably damaging Het
Trav10d G T 14: 53,048,929 (GRCm39) A107S probably damaging Het
Trim60 A T 8: 65,453,016 (GRCm39) L411* probably null Het
Ttbk2 A T 2: 120,575,521 (GRCm39) V1083D probably benign Het
Unc93a T A 17: 13,344,464 (GRCm39) Q26L probably damaging Het
Usp14 T A 18: 10,022,819 (GRCm39) N65I possibly damaging Het
Vip A T 10: 5,593,988 (GRCm39) S114C probably damaging Het
Vmn1r237 A T 17: 21,534,813 (GRCm39) I179F probably damaging Het
Wdr47 T A 3: 108,545,201 (GRCm39) probably null Het
Zfp975 A T 7: 42,311,963 (GRCm39) C217S probably damaging 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
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
R7396:Myh2 UTSW 11 67,085,554 (GRCm39) critical splice donor site probably null
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'- AGGACCTCATGCTGGATGTG -3'
(R):5'- GTGTGGTCAAGACATGGCATAG -3'

Sequencing Primer
(F):5'- AGAGGACCAACGCTGCTTG -3'
(R):5'- CATAGAAGAGCGAGTGTTCCCTC -3'
Posted On 2017-02-15