Incidental Mutation 'R4965:Mybpc3'
ID 383869
Institutional Source Beutler Lab
Gene Symbol Mybpc3
Ensembl Gene ENSMUSG00000002100
Gene Name myosin binding protein C, cardiac
Synonyms cardiac C-protein
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # R4965 (G1)
Quality Score 126
Status Not validated
Chromosome 2
Chromosomal Location 90948489-90966861 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90949592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 45 (G45D)
Ref Sequence ENSEMBL: ENSMUSP00000127070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002180] [ENSMUST00000111430] [ENSMUST00000137942] [ENSMUST00000169776] [ENSMUST00000169852]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002180
SMART Domains Protein: ENSMUSP00000002180
Gene: ENSMUSG00000002111

DomainStartEndE-ValueType
low complexity region 56 73 N/A INTRINSIC
low complexity region 78 85 N/A INTRINSIC
low complexity region 154 167 N/A INTRINSIC
ETS 171 259 9.71e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111430
AA Change: G45D

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: G45D

DomainStartEndE-ValueType
IG 24 103 4.86e-2 SMART
low complexity region 131 143 N/A INTRINSIC
IG 167 263 2.81e-7 SMART
IG 373 453 1.25e-4 SMART
IG 463 544 2.48e-8 SMART
IG 554 640 3.16e-1 SMART
IG 659 772 3.91e-6 SMART
FN3 775 858 2.5e-11 SMART
FN3 873 956 7.06e-11 SMART
IG 983 1066 3.3e-4 SMART
FN3 1069 1151 4.38e-7 SMART
IGc2 1196 1263 6.21e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137942
SMART Domains Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100

DomainStartEndE-ValueType
IG 3 99 2.81e-7 SMART
low complexity region 135 152 N/A INTRINSIC
IG 209 289 1.25e-4 SMART
IG 299 380 2.48e-8 SMART
IG 390 476 3.16e-1 SMART
IG 495 608 3.91e-6 SMART
FN3 611 694 2.5e-11 SMART
FN3 709 792 7.06e-11 SMART
IG 819 902 3.3e-4 SMART
FN3 905 987 4.38e-7 SMART
IGc2 1032 1099 6.21e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169776
AA Change: G45D

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: G45D

DomainStartEndE-ValueType
IG 24 103 4.86e-2 SMART
low complexity region 131 143 N/A INTRINSIC
IG 167 263 2.81e-7 SMART
IG 374 454 1.25e-4 SMART
IG 464 545 2.48e-8 SMART
IG 555 641 3.16e-1 SMART
IG 660 773 3.91e-6 SMART
FN3 776 859 2.5e-11 SMART
FN3 874 957 7.06e-11 SMART
IG 984 1067 3.3e-4 SMART
FN3 1070 1152 4.38e-7 SMART
IGc2 1197 1264 6.21e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169852
SMART Domains Protein: ENSMUSP00000130368
Gene: ENSMUSG00000002111

DomainStartEndE-ValueType
low complexity region 50 63 N/A INTRINSIC
low complexity region 123 133 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,433 (GRCm39) T1541A probably benign Het
9530002B09Rik T C 4: 122,594,285 (GRCm39) M59T probably benign Het
Adam18 C T 8: 25,131,827 (GRCm39) C428Y probably damaging Het
Adcy5 A G 16: 35,098,872 (GRCm39) E700G possibly damaging Het
Adprh G T 16: 38,266,142 (GRCm39) Y333* probably null Het
Agfg2 C A 5: 137,665,439 (GRCm39) probably null Het
Akip1 A T 7: 109,310,961 (GRCm39) E167V probably damaging Het
Akr1c21 A T 13: 4,630,304 (GRCm39) Q199L probably damaging Het
Aldh9a1 C A 1: 167,193,358 (GRCm39) A455E probably damaging Het
Amph G A 13: 19,321,869 (GRCm39) S520N probably benign Het
Ankrd52 A G 10: 128,226,376 (GRCm39) D1006G probably benign Het
Ap5z1 A C 5: 142,453,431 (GRCm39) Q133P probably damaging Het
Babam1 C T 8: 71,857,032 (GRCm39) A331V possibly damaging Het
Btc T C 5: 91,510,160 (GRCm39) probably null Het
Cacna2d3 A G 14: 28,704,289 (GRCm39) F831L probably benign Het
Cadm3 G A 1: 173,164,664 (GRCm39) P372L probably damaging Het
Capn5 A T 7: 97,775,624 (GRCm39) M439K probably damaging Het
Carf T C 1: 60,189,796 (GRCm39) S639P probably damaging Het
Casp12 C T 9: 5,352,250 (GRCm39) R81C probably benign Het
Ces2e G T 8: 105,660,330 (GRCm39) R555M probably benign Het
Cfap54 T A 10: 92,902,661 (GRCm39) I164F probably benign Het
Cltc C T 11: 86,598,327 (GRCm39) V1012I probably damaging Het
Cmya5 G A 13: 93,232,295 (GRCm39) T931I possibly damaging Het
Cntn6 A G 6: 104,751,435 (GRCm39) I364V probably damaging Het
Cntnap1 A T 11: 101,068,251 (GRCm39) I59F possibly damaging Het
Cop1 T C 1: 159,067,167 (GRCm39) M80T probably damaging Het
Cplx2 A G 13: 54,527,460 (GRCm39) S115G possibly damaging Het
Crtac1 A G 19: 42,307,179 (GRCm39) Y195H probably damaging Het
Csn1s2a A C 5: 87,929,697 (GRCm39) S99R possibly damaging Het
Csn1s2b T A 5: 87,961,820 (GRCm39) D41E possibly damaging Het
Cul9 C T 17: 46,849,451 (GRCm39) D565N probably damaging Het
Cux1 A T 5: 136,340,410 (GRCm39) N625K possibly damaging Het
Cyp2c37 A T 19: 40,000,206 (GRCm39) M443L possibly damaging Het
Cyp2s1 G A 7: 25,508,710 (GRCm39) T244I possibly damaging Het
Dgkh C T 14: 78,861,861 (GRCm39) V135M probably damaging Het
Dtl T C 1: 191,278,677 (GRCm39) E395G possibly damaging Het
Dyrk1a G T 16: 94,492,854 (GRCm39) G658* probably null Het
Erlin2 T C 8: 27,519,623 (GRCm39) F117S probably damaging Het
Fkbp8 A G 8: 70,984,173 (GRCm39) probably null Het
Fras1 T C 5: 96,874,439 (GRCm39) F2288S possibly damaging Het
Frmd3 A G 4: 74,071,837 (GRCm39) T240A probably damaging Het
H2-D1 A G 17: 35,482,881 (GRCm39) Y137C probably damaging Het
Helz2 A G 2: 180,882,709 (GRCm39) V28A possibly damaging Het
Hydin A G 8: 111,124,727 (GRCm39) I579V probably benign Het
Il6 A T 5: 30,218,491 (GRCm39) Y29F possibly damaging Het
Ildr2 A G 1: 166,135,409 (GRCm39) D368G probably damaging Het
Junb T A 8: 85,704,788 (GRCm39) I91F probably damaging Het
Kat2a C A 11: 100,603,029 (GRCm39) probably benign Het
Kat2a A T 11: 100,603,030 (GRCm39) probably benign Het
Kcnh5 T A 12: 75,011,925 (GRCm39) T665S probably benign Het
Kdm1b A T 13: 47,227,843 (GRCm39) D608V probably damaging Het
Krcc1 A G 6: 71,261,621 (GRCm39) K218E probably damaging Het
Krt8 C T 15: 101,905,386 (GRCm39) V488M probably benign Het
Lzts1 C T 8: 69,591,414 (GRCm39) A245T probably benign Het
Mcm6 T A 1: 128,287,223 (GRCm39) Q27L probably damaging Het
Mfsd4b3-ps G T 10: 39,823,686 (GRCm39) Y191* probably null Het
Mgme1 C T 2: 144,118,324 (GRCm39) Q199* probably null Het
Mgme1 T C 2: 144,121,540 (GRCm39) L332P probably benign Het
Morc3 G T 16: 93,657,475 (GRCm39) E25* probably null Het
Mroh7 G A 4: 106,548,184 (GRCm39) A1098V possibly damaging Het
Mtrf1 G A 14: 79,644,027 (GRCm39) R174H probably benign Het
Mycbpap A T 11: 94,395,764 (GRCm39) N733K probably damaging Het
N4bp1 T C 8: 87,578,314 (GRCm39) I684V possibly damaging Het
Nav2 A T 7: 49,202,625 (GRCm39) R1470* probably null Het
Ndufa9 A T 6: 126,799,026 (GRCm39) S364T probably benign Het
Nipal4 C A 11: 46,052,837 (GRCm39) A43S possibly damaging Het
Nlrp1a T A 11: 70,983,141 (GRCm39) Y1275F possibly damaging Het
Nova1 A T 12: 46,767,618 (GRCm39) L8* probably null Het
Odam G T 5: 88,037,967 (GRCm39) G181* probably null Het
Optn T A 2: 5,026,190 (GRCm39) Q576L probably benign Het
Or2c1 T C 16: 3,657,434 (GRCm39) L199P probably damaging Het
Or4k47 T C 2: 111,451,879 (GRCm39) D180G probably damaging Het
Or4l1 C T 14: 50,166,354 (GRCm39) V216I probably benign Het
Or51a39 A T 7: 102,362,702 (GRCm39) I306N probably damaging Het
Or5as1 T A 2: 86,981,003 (GRCm39) M1L possibly damaging Het
Or5h18 A T 16: 58,847,696 (GRCm39) D191E probably damaging Het
Or8s2 T C 15: 98,277,030 (GRCm39) probably benign Het
Patl2 G T 2: 121,959,329 (GRCm39) S45* probably null Het
Pde2a G A 7: 101,152,140 (GRCm39) G349E probably benign Het
Pdlim2 T A 14: 70,405,464 (GRCm39) probably benign Het
Per1 T C 11: 68,995,227 (GRCm39) V653A probably benign Het
Phlda2 A G 7: 143,056,005 (GRCm39) S75P probably damaging Het
Poldip3 A T 15: 83,021,706 (GRCm39) M167K possibly damaging Het
Potegl C A 2: 23,135,127 (GRCm39) T312K probably benign Het
Prpf38a T C 4: 108,436,278 (GRCm39) I12V probably benign Het
Prrc1 G A 18: 57,507,622 (GRCm39) V259I possibly damaging Het
Ptges3l A T 11: 101,315,448 (GRCm39) M1K probably null Het
Rdh5 A G 10: 128,749,653 (GRCm39) Y296H probably damaging Het
Resf1 G T 6: 149,229,896 (GRCm39) G981* probably null Het
Rnf2 T A 1: 151,348,968 (GRCm39) K51* probably null Het
Rpusd3 C A 6: 113,393,809 (GRCm39) R215L probably benign Het
Rsph4a A T 10: 33,785,236 (GRCm39) E382D probably damaging Het
S1pr2 G A 9: 20,879,745 (GRCm39) Q28* probably null Het
Sesn1 A T 10: 41,771,005 (GRCm39) I179F probably damaging Het
Setd3 T A 12: 108,079,630 (GRCm39) E291V probably benign Het
Shc1 G T 3: 89,334,303 (GRCm39) R323L probably damaging Het
Slc22a5 T C 11: 53,782,352 (GRCm39) D5G possibly damaging Het
Slc6a19 T C 13: 73,848,677 (GRCm39) K26E probably benign Het
Slc9a3 A G 13: 74,312,412 (GRCm39) N670D possibly damaging Het
Spata19 A T 9: 27,311,761 (GRCm39) I127L probably benign Het
Speg G T 1: 75,404,347 (GRCm39) V2751L probably damaging Het
Sptbn2 A G 19: 4,779,337 (GRCm39) D298G probably benign Het
Srm T C 4: 148,678,640 (GRCm39) V289A possibly damaging Het
Stip1 C T 19: 7,012,938 (GRCm39) A49T probably benign Het
Tas2r118 C A 6: 23,969,627 (GRCm39) V145F probably benign Het
Tbc1d12 A T 19: 38,854,169 (GRCm39) K284* probably null Het
Tfcp2 T C 15: 100,423,531 (GRCm39) H125R probably damaging Het
Tfdp1 T C 8: 13,423,073 (GRCm39) V206A probably damaging Het
Tgtp2 A G 11: 48,950,237 (GRCm39) W112R probably damaging Het
Tmem71 T G 15: 66,410,710 (GRCm39) M221L probably benign Het
Tpcn1 T C 5: 120,685,552 (GRCm39) N436S possibly damaging Het
Usp4 C T 9: 108,239,819 (GRCm39) L183F probably damaging Het
Vmn2r55 A T 7: 12,404,478 (GRCm39) N308K possibly damaging Het
Zfp106 T A 2: 120,364,400 (GRCm39) D669V probably damaging Het
Zfp108 A T 7: 23,959,573 (GRCm39) I55L probably benign Het
Zfp512b A T 2: 181,228,131 (GRCm39) S8R probably damaging Het
Zfp827 T C 8: 79,787,910 (GRCm39) S359P probably benign Het
Other mutations in Mybpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Mybpc3 APN 2 90,950,374 (GRCm39) missense probably benign
IGL00985:Mybpc3 APN 2 90,965,704 (GRCm39) missense probably benign 0.16
IGL01926:Mybpc3 APN 2 90,965,752 (GRCm39) missense possibly damaging 0.61
IGL02135:Mybpc3 APN 2 90,955,171 (GRCm39) missense possibly damaging 0.58
IGL02187:Mybpc3 APN 2 90,965,797 (GRCm39) missense probably benign
IGL02219:Mybpc3 APN 2 90,951,368 (GRCm39) critical splice acceptor site probably null
IGL02752:Mybpc3 APN 2 90,962,982 (GRCm39) critical splice acceptor site probably null
IGL03002:Mybpc3 APN 2 90,954,234 (GRCm39) missense probably damaging 1.00
IGL03118:Mybpc3 APN 2 90,954,848 (GRCm39) missense probably damaging 1.00
IGL03238:Mybpc3 APN 2 90,962,004 (GRCm39) missense probably damaging 1.00
amanitin UTSW 2 90,948,524 (GRCm39) missense probably null 0.98
fungus UTSW 2 90,954,306 (GRCm39) missense possibly damaging 0.87
R0010:Mybpc3 UTSW 2 90,965,178 (GRCm39) nonsense probably null
R0114:Mybpc3 UTSW 2 90,954,839 (GRCm39) missense probably damaging 1.00
R0139:Mybpc3 UTSW 2 90,950,682 (GRCm39) splice site probably benign
R0282:Mybpc3 UTSW 2 90,954,369 (GRCm39) splice site probably benign
R0673:Mybpc3 UTSW 2 90,950,772 (GRCm39) missense probably damaging 1.00
R1388:Mybpc3 UTSW 2 90,953,219 (GRCm39) missense probably benign 0.43
R2159:Mybpc3 UTSW 2 90,955,715 (GRCm39) missense probably damaging 1.00
R2424:Mybpc3 UTSW 2 90,966,138 (GRCm39) missense probably benign 0.20
R3983:Mybpc3 UTSW 2 90,965,714 (GRCm39) missense probably benign
R4322:Mybpc3 UTSW 2 90,954,306 (GRCm39) missense possibly damaging 0.87
R4909:Mybpc3 UTSW 2 90,965,157 (GRCm39) missense probably benign
R4913:Mybpc3 UTSW 2 90,956,609 (GRCm39) missense possibly damaging 0.46
R5248:Mybpc3 UTSW 2 90,955,573 (GRCm39) splice site probably null
R5311:Mybpc3 UTSW 2 90,959,023 (GRCm39) nonsense probably null
R5332:Mybpc3 UTSW 2 90,953,283 (GRCm39) missense probably damaging 1.00
R5635:Mybpc3 UTSW 2 90,965,174 (GRCm39) missense probably benign 0.00
R5647:Mybpc3 UTSW 2 90,952,067 (GRCm39) splice site probably null
R5698:Mybpc3 UTSW 2 90,955,194 (GRCm39) missense possibly damaging 0.85
R5832:Mybpc3 UTSW 2 90,949,520 (GRCm39) splice site probably null
R5895:Mybpc3 UTSW 2 90,955,010 (GRCm39) missense probably damaging 0.99
R6833:Mybpc3 UTSW 2 90,955,773 (GRCm39) splice site probably null
R7061:Mybpc3 UTSW 2 90,955,749 (GRCm39) missense possibly damaging 0.93
R7144:Mybpc3 UTSW 2 90,964,949 (GRCm39) missense probably benign 0.03
R7169:Mybpc3 UTSW 2 90,948,524 (GRCm39) missense possibly damaging 0.85
R7472:Mybpc3 UTSW 2 90,962,001 (GRCm39) missense probably damaging 1.00
R7538:Mybpc3 UTSW 2 90,950,832 (GRCm39) missense probably damaging 1.00
R7677:Mybpc3 UTSW 2 90,959,376 (GRCm39) missense probably benign 0.04
R7955:Mybpc3 UTSW 2 90,956,401 (GRCm39) splice site probably null
R8290:Mybpc3 UTSW 2 90,951,473 (GRCm39) missense probably benign 0.00
R8486:Mybpc3 UTSW 2 90,959,117 (GRCm39) missense probably damaging 1.00
R8821:Mybpc3 UTSW 2 90,948,524 (GRCm39) missense probably null 0.98
R8885:Mybpc3 UTSW 2 90,954,237 (GRCm39) missense probably benign
R8938:Mybpc3 UTSW 2 90,954,294 (GRCm39) missense probably damaging 1.00
R9420:Mybpc3 UTSW 2 90,965,478 (GRCm39) nonsense probably null
R9581:Mybpc3 UTSW 2 90,949,616 (GRCm39) missense probably benign
Z1088:Mybpc3 UTSW 2 90,965,704 (GRCm39) missense probably benign 0.16
Z1176:Mybpc3 UTSW 2 90,950,748 (GRCm39) missense possibly damaging 0.85
Z1177:Mybpc3 UTSW 2 90,954,309 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CCACCCCATAGAACTGTTGGAG -3'
(R):5'- TACCTGGCTCTGTGACCTTGAG -3'

Sequencing Primer
(F):5'- CCCATAGAACTGTTGGAGCATTAAAC -3'
(R):5'- AATGACCGCGTAGGAAC -3'
Posted On 2016-04-27