Incidental Mutation 'R6156:Myh2'
ID 489603
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 044303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 67061853-67088343 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67071879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 536 (I536F)
Ref Sequence ENSEMBL: ENSMUSP00000129544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018641] [ENSMUST00000170159]
AlphaFold G3UW82
Predicted Effect probably damaging
Transcript: ENSMUST00000018641
AA Change: I536F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: I536F

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 damaging
Transcript: ENSMUST00000170159
AA Change: I536F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: I536F

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T 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
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'- ACCACCACATGTTCGTGCTG -3'
(R):5'- CCAGCCAGTGATGTTGTAATCC -3'

Sequencing Primer
(F):5'- GCTGGAGCAGGAGGAATAC -3'
(R):5'- GATGTTGTAATCCACGGTGCCC -3'
Posted On 2017-10-10