Incidental Mutation 'R5426:Mybpc2'
ID 426884
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 042992-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5426 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44151123-44174080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44159253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 599 (V599A)
Ref Sequence ENSEMBL: ENSMUSP00000130127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165208]
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: ENSMUST00000165208
AA Change: V599A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: V599A

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: ENSMUST00000207516
Meta Mutation Damage Score 0.1060 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (85/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,633 (GRCm39) H122L probably damaging Het
9330182O14Rik G A 15: 40,011,932 (GRCm39) M90I unknown Het
9330182O14Rik G A 15: 40,011,933 (GRCm39) D91N unknown Het
Abca13 T A 11: 9,240,722 (GRCm39) S862T probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adgb C A 10: 10,226,004 (GRCm39) A1405S probably benign Het
Adpgk T A 9: 59,204,832 (GRCm39) V86E probably damaging Het
Agfg2 G C 5: 137,666,020 (GRCm39) P80A probably damaging Het
Akap11 G A 14: 78,736,304 (GRCm39) Q1829* probably null Het
Aldh1l1 G A 6: 90,536,281 (GRCm39) R62Q probably benign Het
Amd1 G T 10: 40,166,183 (GRCm39) D265E probably damaging Het
Aox4 A T 1: 58,259,253 (GRCm39) Q106L probably damaging Het
Arap2 A T 5: 62,800,159 (GRCm39) N1289K probably benign Het
Arhgef12 T C 9: 42,897,880 (GRCm39) S874G probably damaging Het
Ccdc166 T C 15: 75,853,945 (GRCm39) Q45R possibly damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdk14 A G 5: 4,938,975 (GRCm39) S388P possibly damaging Het
Chgb A T 2: 132,635,453 (GRCm39) Q465L possibly damaging Het
Commd9 T A 2: 101,729,220 (GRCm39) W109R probably damaging Het
Cspg4b G A 13: 113,505,587 (GRCm39) V2239I probably benign Het
Cyp2b9 T C 7: 25,887,080 (GRCm39) V163A probably benign Het
Dcpp2 T A 17: 24,118,287 (GRCm39) H27Q possibly damaging Het
Ddn T A 15: 98,704,347 (GRCm39) E315V possibly damaging Het
Defb29 C A 2: 152,380,868 (GRCm39) C47F probably damaging Het
Dnah7b T C 1: 46,281,366 (GRCm39) M2809T possibly damaging Het
Dock4 A T 12: 40,795,744 (GRCm39) I854F probably damaging Het
Dsg4 T C 18: 20,591,541 (GRCm39) Y427H probably damaging Het
E130114P18Rik C T 4: 97,578,907 (GRCm39) A23T unknown Het
Flacc1 T A 1: 58,706,045 (GRCm39) K275* probably null Het
Gemin5 A G 11: 58,016,113 (GRCm39) S1297P probably benign Het
Gm10309 A C 17: 86,806,161 (GRCm39) probably benign Het
Gpatch11 T A 17: 79,148,663 (GRCm39) S155R possibly damaging Het
Grin2b C A 6: 135,709,366 (GRCm39) Q1393H probably damaging Het
Heatr5b C T 17: 79,081,142 (GRCm39) C1370Y probably damaging Het
Hmcn2 C T 2: 31,226,556 (GRCm39) T177I possibly damaging Het
Ildr1 A T 16: 36,529,981 (GRCm39) I123F probably damaging Het
Kalrn A T 16: 34,083,023 (GRCm39) V644D probably damaging Het
Kifap3 A G 1: 163,607,440 (GRCm39) M1V probably null Het
Klhl11 A G 11: 100,354,942 (GRCm39) L293P probably damaging Het
Klrc3 G A 6: 129,618,513 (GRCm39) S98L probably benign Het
Lrrc37 A T 11: 103,511,586 (GRCm39) H127Q unknown Het
Med12l G A 3: 59,156,143 (GRCm39) M1220I probably damaging Het
Ms4a7 C T 19: 11,303,166 (GRCm39) probably null Het
Naalad2 T C 9: 18,258,815 (GRCm39) N487D probably benign Het
Nat8f7 T G 6: 85,684,805 (GRCm39) S12R probably benign Het
Nefm T A 14: 68,357,515 (GRCm39) probably benign Het
Nlrp5 T C 7: 23,117,626 (GRCm39) V450A probably damaging Het
Nps G A 7: 134,870,376 (GRCm39) probably null Het
Or13c7d A G 4: 43,770,168 (GRCm39) I281T probably benign Het
Or2ag16 C A 7: 106,351,773 (GRCm39) S274I probably benign Het
Or4a74 T C 2: 89,440,083 (GRCm39) Y121C probably damaging Het
Or4b13 T A 2: 90,082,955 (GRCm39) K126* probably null Het
Or5e1 T C 7: 108,354,924 (GRCm39) L287P possibly damaging Het
Or5h24 G T 16: 58,918,665 (GRCm39) P230Q possibly damaging Het
Or5p67 T C 7: 107,922,017 (GRCm39) N289D probably damaging Het
Oxct2a C A 4: 123,216,506 (GRCm39) G292W possibly damaging Het
Pramel32 T A 4: 88,547,647 (GRCm39) probably benign Het
Prr27 T C 5: 87,998,744 (GRCm39) probably benign Het
Ptx3 T C 3: 66,128,143 (GRCm39) M68T probably damaging Het
Rufy1 A G 11: 50,312,561 (GRCm39) L131S probably damaging Het
Septin7 T A 9: 25,197,986 (GRCm39) I100N possibly damaging Het
Sgms2 T C 3: 131,135,446 (GRCm39) I143V probably benign Het
Slc25a34 A G 4: 141,350,877 (GRCm39) V44A probably damaging Het
Slc28a3 T A 13: 58,710,968 (GRCm39) D518V probably damaging Het
Slc6a7 C T 18: 61,136,308 (GRCm39) probably null Het
Slco4a1 C A 2: 180,113,028 (GRCm39) A420D possibly damaging Het
Smap1 T C 1: 23,888,471 (GRCm39) T180A probably benign Het
Specc1l T C 10: 75,103,384 (GRCm39) S920P probably benign Het
Tgtp2 A G 11: 48,950,083 (GRCm39) M163T probably benign Het
Tiam1 G T 16: 89,662,280 (GRCm39) Q613K possibly damaging Het
Vsig10l T A 7: 43,114,247 (GRCm39) S190T probably damaging Het
Vwa3b A G 1: 37,154,752 (GRCm39) Y512C probably damaging Het
Wdfy3 T A 5: 102,067,312 (GRCm39) N1207Y probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Wdr70 A G 15: 7,951,586 (GRCm39) L417S possibly damaging Het
Wdr81 A C 11: 75,341,722 (GRCm39) S1182A possibly damaging Het
Zfp458 A T 13: 67,405,256 (GRCm39) C391* probably null Het
Zfp638 A G 6: 83,953,396 (GRCm39) E1167G probably damaging Het
Zfp763 T A 17: 33,238,569 (GRCm39) D192V probably benign Het
Zfp853 T G 5: 143,274,624 (GRCm39) Q332P unknown 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
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'- ACAGCCTCTGGAGGATCAGG -3'
(R):5'- AGTCGGGGTGAGTCCAGAAC -3'

Sequencing Primer
(F):5'- CTCTGGAGGATCAGGAACATCTG -3'
(R):5'- GTCCAGAACTCATATATATGTGGCC -3'
Posted On 2016-09-01