Incidental Mutation 'R2216:Mybpc2'
ID 241154
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 040218-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2216 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44151123-44174080 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 44161924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000165208]
AlphaFold Q5XKE0
Predicted Effect probably damaging
Transcript: ENSMUST00000165208
AA Change: G509S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: G509S

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 null
Transcript: ENSMUST00000207516
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 G T 11: 71,922,272 (GRCm39) P146T probably damaging Het
Arnt2 T A 7: 83,924,559 (GRCm39) T423S probably damaging Het
Bend5 A G 4: 111,305,787 (GRCm39) N277S probably null Het
Cd22 G T 7: 30,566,471 (GRCm39) T816N probably damaging Het
Cep126 G A 9: 8,120,679 (GRCm39) R115C probably damaging Het
Cep85 T C 4: 133,858,741 (GRCm39) H710R possibly damaging Het
Cmya5 A T 13: 93,230,003 (GRCm39) L1695H probably damaging Het
Col24a1 T C 3: 145,020,742 (GRCm39) V371A probably benign Het
Csmd1 T A 8: 17,077,355 (GRCm39) probably null Het
Cyp1a1 T A 9: 57,609,352 (GRCm39) probably null Het
Dennd1c C T 17: 57,381,492 (GRCm39) probably null Het
Dmxl1 G A 18: 50,026,990 (GRCm39) V2033I probably benign Het
Dtna A G 18: 23,702,622 (GRCm39) H51R probably damaging Het
Dysf G A 6: 84,184,227 (GRCm39) probably null Het
Gcn1 T A 5: 115,731,720 (GRCm39) V945E probably benign Het
Gpbar1 C G 1: 74,318,053 (GRCm39) L99V probably damaging Het
Hdac9 A T 12: 34,479,516 (GRCm39) D212E probably damaging Het
Itga1 A T 13: 115,133,565 (GRCm39) D448E probably benign Het
Itga2b T A 11: 102,358,692 (GRCm39) N75I probably benign Het
Klra7 T C 6: 130,205,549 (GRCm39) E117G probably benign Het
Kmt2b G A 7: 30,273,490 (GRCm39) R2349C probably benign Het
Masp1 T C 16: 23,310,805 (GRCm39) N209S probably benign Het
Myh15 C G 16: 48,986,201 (GRCm39) S1557* probably null Het
Myo3a A C 2: 22,467,783 (GRCm39) T346P probably benign Het
Nim1k A G 13: 120,175,751 (GRCm39) Y152H probably damaging Het
Nrp2 C T 1: 62,802,077 (GRCm39) R507* probably null Het
Or13n4 T A 7: 106,423,205 (GRCm39) H176L probably damaging Het
Or5e1 C T 7: 108,354,819 (GRCm39) T252M probably damaging Het
Parp14 T C 16: 35,677,575 (GRCm39) I798V probably benign Het
Pcnx2 C T 8: 126,614,816 (GRCm39) A212T probably benign Het
Pkhd1l1 A T 15: 44,437,291 (GRCm39) H3522L probably damaging Het
Pram1 C T 17: 33,860,258 (GRCm39) A275V probably benign Het
Pramel18 T A 4: 101,767,257 (GRCm39) W169R probably damaging Het
Prkag1 A T 15: 98,713,827 (GRCm39) M1K probably null Het
Prss52 T C 14: 64,351,042 (GRCm39) S276P probably damaging Het
Ranbp17 A T 11: 33,431,125 (GRCm39) V284D probably damaging Het
Reln T C 5: 22,253,003 (GRCm39) D648G probably benign Het
Rnf112 A G 11: 61,343,105 (GRCm39) L190P probably damaging Het
Scn5a G T 9: 119,314,678 (GRCm39) P2010Q probably benign Het
Scn5a T C 9: 119,342,151 (GRCm39) Y1138C probably benign Het
Slc4a9 A G 18: 36,663,798 (GRCm39) H274R probably benign Het
Slc5a6 T G 5: 31,196,679 (GRCm39) E391D possibly damaging Het
Speer2 T C 16: 69,655,730 (GRCm39) Q32R possibly damaging Het
Tars1 A G 15: 11,389,794 (GRCm39) V372A probably benign Het
Thsd7a A T 6: 12,337,267 (GRCm39) L1250Q possibly damaging Het
Tnnt3 A G 7: 142,066,301 (GRCm39) Y222C probably benign Het
Trim40 T C 17: 37,199,875 (GRCm39) I68V probably benign Het
Trp53tg5 T C 2: 164,313,226 (GRCm39) I150V probably benign Het
Ube2u T C 4: 100,389,365 (GRCm39) V109A probably benign Het
Usp54 A T 14: 20,611,908 (GRCm39) D969E probably benign Het
Vil1 G T 1: 74,464,838 (GRCm39) R495L probably benign Het
Wfs1 T A 5: 37,124,564 (GRCm39) K700* probably null Het
Zcchc8 A G 5: 123,845,466 (GRCm39) L298P probably damaging Het
Zfp946 A T 17: 22,673,697 (GRCm39) Q150H possibly 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
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
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'- AGTCCCCATGAATATGCATCAG -3'
(R):5'- TGACACATGAGGTAGACCCTG -3'

Sequencing Primer
(F):5'- ATCTGACGCTATCCATGGGC -3'
(R):5'- TAGACCCTGGCCTCACATG -3'
Posted On 2014-10-15