Incidental Mutation 'IGL02135:Mybpc3'
ID 281276
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02135
Quality Score
Status
Chromosome 2
Chromosomal Location 90948489-90966861 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90955171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 507 (F507L)
Ref Sequence ENSEMBL: ENSMUSP00000127070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111430] [ENSMUST00000137942] [ENSMUST00000169776]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000111430
AA Change: F506L

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: F506L

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
AA Change: F342L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: F342L

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: F507L

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: F507L

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
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,205 (GRCm39) H1034R possibly damaging Het
Aoc1l1 G A 6: 48,952,498 (GRCm39) R141Q probably benign Het
App A G 16: 84,876,726 (GRCm39) probably null Het
Arhgap23 G T 11: 97,342,528 (GRCm39) R270L probably damaging Het
Arhgap36 T C X: 48,586,066 (GRCm39) I342T possibly damaging Het
Arhgef12 A T 9: 42,883,461 (GRCm39) M1356K possibly damaging Het
Armh4 T C 14: 50,011,386 (GRCm39) K107R probably damaging Het
Asap3 A C 4: 135,968,464 (GRCm39) probably null Het
Atl2 A G 17: 80,167,214 (GRCm39) probably null Het
Cdh20 T A 1: 110,066,004 (GRCm39) Y759* probably null Het
Celsr3 A G 9: 108,704,755 (GRCm39) T413A probably benign Het
Cep97 A T 16: 55,743,330 (GRCm39) I102K probably damaging Het
Ces2a T C 8: 105,466,813 (GRCm39) S441P probably benign Het
Cops2 T C 2: 125,674,163 (GRCm39) T435A probably benign Het
Ctc1 A G 11: 68,911,989 (GRCm39) N56S probably benign Het
Dennd2a G A 6: 39,457,205 (GRCm39) R746* probably null Het
Dnah5 T A 15: 28,248,031 (GRCm39) C723S possibly damaging Het
Dnah7a A C 1: 53,662,632 (GRCm39) V643G probably benign Het
Dnah9 A T 11: 66,008,318 (GRCm39) S836T possibly damaging Het
Edc4 T A 8: 106,612,454 (GRCm39) V164D probably damaging Het
Gcfc2 A T 6: 81,918,381 (GRCm39) D357V probably damaging Het
Grem1 T C 2: 113,580,132 (GRCm39) N123S probably damaging Het
Gria1 T C 11: 57,076,679 (GRCm39) V94A probably damaging Het
Hipk2 G A 6: 38,795,934 (GRCm39) H112Y possibly damaging Het
Il7r T C 15: 9,508,092 (GRCm39) N410S probably benign Het
Insr A T 8: 3,308,741 (GRCm39) S98R probably damaging Het
Klhl7 T A 5: 24,346,279 (GRCm39) Y308* probably null Het
Lcp1 T C 14: 75,437,926 (GRCm39) V112A probably benign Het
Map2 A T 1: 66,419,920 (GRCm39) R84* probably null Het
Mgst1 A T 6: 138,124,766 (GRCm39) M27L probably damaging Het
Mroh7 A G 4: 106,559,707 (GRCm39) L740P probably damaging Het
Nqo2 A T 13: 34,169,326 (GRCm39) K183* probably null Het
Nt5c1b T C 12: 10,427,194 (GRCm39) Y315H probably damaging Het
Odc1 T A 12: 17,597,674 (GRCm39) I48N probably damaging Het
Or2a56 A G 6: 42,932,585 (GRCm39) D51G probably damaging Het
Or7a37 T A 10: 78,805,940 (GRCm39) S152R probably damaging Het
Osbpl5 T A 7: 143,258,862 (GRCm39) D236V probably damaging Het
Prkg1 A G 19: 30,970,476 (GRCm39) Y212H probably benign Het
Pttg1ip T C 10: 77,425,578 (GRCm39) probably null Het
Serpina1f T A 12: 103,659,974 (GRCm39) T103S possibly damaging Het
Skp2 T C 15: 9,125,234 (GRCm39) D115G probably benign Het
Slc25a30 C T 14: 76,004,435 (GRCm39) V221I probably benign Het
Slc7a3 A C X: 100,123,098 (GRCm39) D609E probably benign Het
Strc C T 2: 121,195,315 (GRCm39) G1656D probably damaging Het
Tbc1d8 A G 1: 39,441,891 (GRCm39) F234L probably damaging Het
Tgm7 T G 2: 120,929,519 (GRCm39) I252L possibly damaging Het
Tlr5 A G 1: 182,800,819 (GRCm39) D41G possibly damaging Het
Tns2 T C 15: 102,021,461 (GRCm39) L1034P probably damaging Het
Trim15 A G 17: 37,177,956 (GRCm39) V13A probably benign Het
Uros C T 7: 133,288,734 (GRCm39) V258M possibly damaging Het
Wdr75 A G 1: 45,853,723 (GRCm39) Y378C probably damaging Het
Wdr75 G A 1: 45,856,608 (GRCm39) probably null Het
Wdr82 G T 9: 106,048,443 (GRCm39) R9L possibly damaging Het
Ybx3 G A 6: 131,357,892 (GRCm39) R125C probably damaging Het
Zc3h12b A G X: 94,942,870 (GRCm39) T49A probably benign Het
Zfyve27 G A 19: 42,172,575 (GRCm39) V279M probably damaging 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
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
R4965:Mybpc3 UTSW 2 90,949,592 (GRCm39) missense possibly damaging 0.50
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
Posted On 2015-04-16