Incidental Mutation 'R6435:Mybpc2'
ID 518744
Institutional Source Beutler Lab
Gene Symbol Mybpc2
Ensembl Gene ENSMUSG00000038670
Gene Name myosin binding protein C, fast-type
Synonyms Fast-type C-protein
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6435 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44151123-44174080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44155481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 924 (V924A)
Ref Sequence ENSEMBL: ENSMUSP00000130127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107927] [ENSMUST00000165208] [ENSMUST00000205359] [ENSMUST00000206398]
AlphaFold Q5XKE0
PDB Structure Solution structure of the fibronectin type-III domain of mouse myosin-binding protein C, Fast-type homolog [SOLUTION NMR]
Solution structure of the Ig-like domain(433- 525) of murine myosin-binding protein C, fast-type [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000107927
SMART Domains Protein: ENSMUSP00000103560
Gene: ENSMUSG00000051113

DomainStartEndE-ValueType
low complexity region 70 85 N/A INTRINSIC
Pfam:DUF3699 91 160 5.6e-20 PFAM
coiled coil region 164 191 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165208
AA Change: V924A

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: V924A

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
IG 54 150 6.26e-5 SMART
PDB:2LHU|A 160 236 7e-9 PDB
low complexity region 237 252 N/A INTRINSIC
IG 258 337 5.21e-2 SMART
IG 347 430 1.2e-1 SMART
IG 440 526 2.72e-5 SMART
IG 546 631 1.68e-5 SMART
FN3 634 717 3.29e-11 SMART
FN3 732 815 1.23e-10 SMART
IG 842 925 6.07e-3 SMART
FN3 928 1010 2.08e-8 SMART
IGc2 1055 1122 6.91e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206195
Predicted Effect probably benign
Transcript: ENSMUST00000207516
Predicted Effect probably benign
Transcript: ENSMUST00000206398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207290
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably damaging Het
Other mutations in Mybpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Mybpc2 APN 7 44,154,829 (GRCm39) unclassified probably benign
IGL00586:Mybpc2 APN 7 44,154,806 (GRCm39) missense probably damaging 0.96
IGL00976:Mybpc2 APN 7 44,171,741 (GRCm39) splice site probably null
IGL01099:Mybpc2 APN 7 44,165,591 (GRCm39) missense probably damaging 0.99
IGL01348:Mybpc2 APN 7 44,165,352 (GRCm39) missense probably benign
IGL01625:Mybpc2 APN 7 44,166,337 (GRCm39) missense possibly damaging 0.65
IGL01733:Mybpc2 APN 7 44,155,622 (GRCm39) missense probably benign 0.03
IGL01946:Mybpc2 APN 7 44,159,322 (GRCm39) unclassified probably benign
IGL02078:Mybpc2 APN 7 44,153,204 (GRCm39) missense probably damaging 1.00
IGL02314:Mybpc2 APN 7 44,171,812 (GRCm39) missense possibly damaging 0.82
IGL02341:Mybpc2 APN 7 44,164,354 (GRCm39) missense probably benign 0.00
IGL02904:Mybpc2 APN 7 44,171,765 (GRCm39) missense probably benign 0.05
IGL03034:Mybpc2 APN 7 44,161,321 (GRCm39) missense possibly damaging 0.87
IGL03296:Mybpc2 APN 7 44,156,308 (GRCm39) missense probably damaging 1.00
R0094:Mybpc2 UTSW 7 44,166,328 (GRCm39) missense probably damaging 1.00
R0329:Mybpc2 UTSW 7 44,158,453 (GRCm39) missense possibly damaging 0.94
R0330:Mybpc2 UTSW 7 44,158,453 (GRCm39) missense possibly damaging 0.94
R0336:Mybpc2 UTSW 7 44,155,040 (GRCm39) missense probably damaging 1.00
R0503:Mybpc2 UTSW 7 44,161,994 (GRCm39) unclassified probably benign
R0821:Mybpc2 UTSW 7 44,156,311 (GRCm39) missense probably benign 0.02
R0822:Mybpc2 UTSW 7 44,156,311 (GRCm39) missense probably benign 0.02
R0823:Mybpc2 UTSW 7 44,156,311 (GRCm39) missense probably benign 0.02
R0854:Mybpc2 UTSW 7 44,166,426 (GRCm39) missense probably benign 0.06
R0938:Mybpc2 UTSW 7 44,156,311 (GRCm39) missense probably benign 0.02
R0939:Mybpc2 UTSW 7 44,156,311 (GRCm39) missense probably benign 0.02
R0940:Mybpc2 UTSW 7 44,156,311 (GRCm39) missense probably benign 0.02
R0941:Mybpc2 UTSW 7 44,156,311 (GRCm39) missense probably benign 0.02
R1166:Mybpc2 UTSW 7 44,154,449 (GRCm39) missense possibly damaging 0.84
R1219:Mybpc2 UTSW 7 44,165,458 (GRCm39) splice site probably null
R1559:Mybpc2 UTSW 7 44,163,111 (GRCm39) missense probably benign 0.01
R1732:Mybpc2 UTSW 7 44,163,099 (GRCm39) missense probably benign
R1802:Mybpc2 UTSW 7 44,161,894 (GRCm39) missense possibly damaging 0.81
R2157:Mybpc2 UTSW 7 44,159,269 (GRCm39) missense possibly damaging 0.93
R2216:Mybpc2 UTSW 7 44,161,924 (GRCm39) splice site probably null
R2406:Mybpc2 UTSW 7 44,171,149 (GRCm39) missense possibly damaging 0.62
R2411:Mybpc2 UTSW 7 44,155,662 (GRCm39) missense probably damaging 1.00
R3079:Mybpc2 UTSW 7 44,155,505 (GRCm39) missense probably damaging 1.00
R4663:Mybpc2 UTSW 7 44,155,066 (GRCm39) missense probably damaging 0.99
R4736:Mybpc2 UTSW 7 44,161,971 (GRCm39) missense probably damaging 1.00
R5316:Mybpc2 UTSW 7 44,169,806 (GRCm39) nonsense probably null
R5426:Mybpc2 UTSW 7 44,159,253 (GRCm39) missense probably benign 0.01
R5498:Mybpc2 UTSW 7 44,165,689 (GRCm39) missense probably damaging 1.00
R5539:Mybpc2 UTSW 7 44,164,317 (GRCm39) missense probably benign 0.17
R5644:Mybpc2 UTSW 7 44,156,477 (GRCm39) missense probably benign 0.13
R5909:Mybpc2 UTSW 7 44,156,515 (GRCm39) missense probably damaging 1.00
R6662:Mybpc2 UTSW 7 44,155,590 (GRCm39) missense probably benign
R6901:Mybpc2 UTSW 7 44,154,779 (GRCm39) missense probably damaging 0.99
R7188:Mybpc2 UTSW 7 44,155,617 (GRCm39) missense probably benign 0.06
R7389:Mybpc2 UTSW 7 44,155,028 (GRCm39) missense probably benign 0.11
R7405:Mybpc2 UTSW 7 44,156,618 (GRCm39) missense probably damaging 1.00
R7553:Mybpc2 UTSW 7 44,155,571 (GRCm39) missense possibly damaging 0.51
R7597:Mybpc2 UTSW 7 44,159,223 (GRCm39) missense probably damaging 1.00
R7772:Mybpc2 UTSW 7 44,165,348 (GRCm39) critical splice donor site probably null
R7824:Mybpc2 UTSW 7 44,154,284 (GRCm39) splice site probably null
R8003:Mybpc2 UTSW 7 44,158,488 (GRCm39) missense probably damaging 0.99
R8179:Mybpc2 UTSW 7 44,159,254 (GRCm39) missense probably benign 0.01
R8187:Mybpc2 UTSW 7 44,161,894 (GRCm39) missense possibly damaging 0.81
R8413:Mybpc2 UTSW 7 44,157,729 (GRCm39) missense probably damaging 1.00
R8729:Mybpc2 UTSW 7 44,155,611 (GRCm39) missense probably damaging 1.00
R8830:Mybpc2 UTSW 7 44,161,965 (GRCm39) missense probably damaging 1.00
R9377:Mybpc2 UTSW 7 44,158,999 (GRCm39) missense probably benign 0.22
R9441:Mybpc2 UTSW 7 44,166,330 (GRCm39) missense probably null 0.96
X0052:Mybpc2 UTSW 7 44,156,566 (GRCm39) missense probably benign 0.23
X0065:Mybpc2 UTSW 7 44,154,809 (GRCm39) missense probably benign 0.01
Z1088:Mybpc2 UTSW 7 44,165,927 (GRCm39) missense possibly damaging 0.47
Z1176:Mybpc2 UTSW 7 44,171,120 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAGAGTCCCTAAAGCCTGG -3'
(R):5'- TGATGTAGGCAGGTCCTCAGAC -3'

Sequencing Primer
(F):5'- TTTTGACAGTAGCCCAGGC -3'
(R):5'- TCAGACCCTCAGAGCCTAGTCG -3'
Posted On 2018-05-24