Incidental Mutation 'R6901:Mybpc2'
ID 538530
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 044995-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6901 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44151123-44174080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44154779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 986 (C986F)
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 probably damaging
Transcript: ENSMUST00000165208
AA Change: C986F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: C986F

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 probably benign
Transcript: ENSMUST00000206398
Predicted Effect probably benign
Transcript: ENSMUST00000207516
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T A 9: 122,197,220 (GRCm39) S136T probably benign Het
Anxa10 T C 8: 62,549,816 (GRCm39) T10A probably damaging Het
Ap3b1 A G 13: 94,554,650 (GRCm39) E262G probably benign Het
Ap3b2 T C 7: 81,134,660 (GRCm39) probably null Het
Arhgef40 A G 14: 52,234,825 (GRCm39) T1043A probably damaging Het
Arhgef5 T A 6: 43,250,232 (GRCm39) S328T probably benign Het
Arid4a A G 12: 71,113,911 (GRCm39) K166R probably damaging Het
Cdh12 A G 15: 21,583,872 (GRCm39) I571V probably benign Het
Cdh4 G A 2: 179,501,987 (GRCm39) V316I probably benign Het
Cebpg A T 7: 34,750,202 (GRCm39) H20Q probably benign Het
Ces4a G A 8: 105,873,330 (GRCm39) V392I probably benign Het
CN725425 C A 15: 91,124,966 (GRCm39) P169T possibly damaging Het
Cyp2c54 A G 19: 40,058,703 (GRCm39) F243S probably damaging Het
Dkk2 T A 3: 131,880,887 (GRCm39) probably null Het
Dync2h1 A G 9: 7,131,855 (GRCm39) Y1651H probably damaging Het
Dyrk1b T A 7: 27,884,542 (GRCm39) L346Q probably damaging Het
Ephx4 T C 5: 107,561,427 (GRCm39) V85A probably benign Het
Etv6 A G 6: 134,243,421 (GRCm39) E392G probably benign Het
Fli1 T A 9: 32,341,221 (GRCm39) N202I probably benign Het
Gpc6 G T 14: 118,188,629 (GRCm39) R421L possibly damaging Het
Gse1 A G 8: 120,956,561 (GRCm39) probably benign Het
Hdac1-ps A G 17: 78,800,089 (GRCm39) E360G probably benign Het
Hnrnpab T C 11: 51,492,675 (GRCm39) probably benign Het
Hyal4 A G 6: 24,756,190 (GRCm39) E136G probably damaging Het
Ift56 G A 6: 38,378,079 (GRCm39) R297H possibly damaging Het
Kcna3 C T 3: 106,943,884 (GRCm39) A49V probably benign Het
Krt42 C T 11: 100,160,542 (GRCm39) M52I probably benign Het
Lyrm4 A T 13: 36,301,107 (GRCm39) Y13N probably damaging Het
Map2 C T 1: 66,460,932 (GRCm39) S1576L possibly damaging Het
Map3k12 G T 15: 102,409,064 (GRCm39) P817Q possibly damaging Het
Map3k12 G T 15: 102,409,065 (GRCm39) P817T possibly damaging Het
Masp1 T C 16: 23,332,584 (GRCm39) K84E probably damaging Het
Mki67 A T 7: 135,310,489 (GRCm39) probably null Het
Mrap C G 16: 90,546,193 (GRCm39) S94C probably damaging Het
Nbea A C 3: 55,926,836 (GRCm39) M789R probably damaging Het
Or2ag1b T C 7: 106,288,396 (GRCm39) I181V probably benign Het
Or6b2 G T 1: 92,408,327 (GRCm39) N5K probably damaging Het
Pde4a A G 9: 21,116,266 (GRCm39) N475S probably benign Het
Pex7 C T 10: 19,736,740 (GRCm39) V297I probably benign Het
Pkd1l3 A T 8: 110,341,246 (GRCm39) H33L unknown Het
Prl8a6 A T 13: 27,621,030 (GRCm39) Y67N possibly damaging Het
Rcor1 A T 12: 111,075,322 (GRCm39) E383V probably damaging Het
Slc22a27 A T 19: 7,903,944 (GRCm39) S64R probably damaging Het
Snx7 G A 3: 117,623,285 (GRCm39) Q292* probably null Het
Tgm3 C T 2: 129,883,890 (GRCm39) T516M possibly damaging Het
Trim9 T C 12: 70,393,413 (GRCm39) E177G probably damaging Het
Ttc28 C A 5: 111,424,891 (GRCm39) T1541N possibly damaging Het
Ttc8 T A 12: 98,927,735 (GRCm39) L202H probably damaging Het
Ttll13 T C 7: 79,899,930 (GRCm39) Y90H probably damaging Het
Uba1y T G Y: 825,496 (GRCm39) I286S probably benign Het
Ubxn11 G A 4: 133,853,575 (GRCm39) A125T probably damaging Het
Vmn1r48 A G 6: 90,013,550 (GRCm39) Y92H possibly damaging Het
Vmn1r74 T C 7: 11,581,368 (GRCm39) F223L probably benign Het
Vwa5b1 G A 4: 138,313,880 (GRCm39) T696I probably benign Het
Zfp266 G T 9: 20,410,895 (GRCm39) Y427* probably null Het
Zfp362 C T 4: 128,679,808 (GRCm39) C273Y probably damaging Het
Zfp385c T C 11: 100,523,585 (GRCm39) N123S probably benign Het
Zfp936 T A 7: 42,839,467 (GRCm39) H311Q 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
R6435:Mybpc2 UTSW 7 44,155,481 (GRCm39) missense possibly damaging 0.73
R6662:Mybpc2 UTSW 7 44,155,590 (GRCm39) missense probably benign
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'- ACTAGCTAGGGGACAACAGC -3'
(R):5'- ACTTTGTCCAGAAGGCTGAC -3'

Sequencing Primer
(F):5'- CAGCCAGGAGTAGCAGCTG -3'
(R):5'- CTTTGTCCAGAAGGCTGACAAAAAG -3'
Posted On 2018-11-06