Mutagenetix > Incidental Mutation

Incidental Mutation 'R0330:Mybpc2'

65165

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

038539-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0330 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44151123-44174080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44158453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 710 (A710T)

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

possibly damaging
Transcript: ENSMUST00000165208
AA Change: A710T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: A710T

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000205847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207290

Predicted Effect

unknown
Transcript: ENSMUST00000207516
AA Change: A17T

Meta Mutation Damage Score

0.4657

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.0%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,038 (GRCm39)	N120S	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
AI661453	G	A	17: 47,757,571 (GRCm39)	R76Q	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arhgap12	T	A	18: 6,039,382 (GRCm39)	D455V	probably damaging	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Arhgef12	A	C	9: 42,931,982 (GRCm39)	H168Q	probably damaging	Het
Arhgef2	A	G	3: 88,549,808 (GRCm39)	H592R	probably damaging	Het
BC049715	A	G	6: 136,817,035 (GRCm39)	T92A	possibly damaging	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Capn8	T	A	1: 182,457,703 (GRCm39)	I689N	probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cep57	G	A	9: 13,728,281 (GRCm39)	R148W	probably damaging	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Chd3	T	G	11: 69,247,159 (GRCm39)	D1003A	probably damaging	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cldn13	A	G	5: 134,944,176 (GRCm39)	V3A	probably benign	Het
Col17a1	T	C	19: 47,658,871 (GRCm39)	T413A	probably benign	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fanca	A	T	8: 124,000,911 (GRCm39)	C1156*	probably null	Het
Flot2	T	A	11: 77,949,784 (GRCm39)	I322N	possibly damaging	Het
Fstl5	T	C	3: 76,615,060 (GRCm39)	V707A	possibly damaging	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Gtf2i	T	C	5: 134,280,740 (GRCm39)	E518G	probably damaging	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Impg2	A	G	16: 56,072,627 (GRCm39)	Y353C	probably damaging	Het
Kank1	A	G	19: 25,401,677 (GRCm39)	K1095E	probably benign	Het
Kcnh4	C	T	11: 100,648,569 (GRCm39)	C45Y	probably damaging	Het
Kif13b	A	G	14: 65,040,669 (GRCm39)	T1590A	probably benign	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrp1b	A	T	2: 40,591,773 (GRCm39)	C73*	probably null	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Med12l	A	G	3: 59,135,123 (GRCm39)	E757G	probably damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Myof	A	C	19: 37,924,326 (GRCm39)	I1297S	probably damaging	Het
Nacad	A	G	11: 6,550,903 (GRCm39)	S763P	probably benign	Het
Nbea	A	G	3: 55,550,238 (GRCm39)	V2730A	probably benign	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Optn	A	T	2: 5,039,066 (GRCm39)	N352K	possibly damaging	Het
Or10k2	A	G	8: 84,268,142 (GRCm39)	Y123C	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7g16	A	G	9: 18,726,937 (GRCm39)	Y218H	probably damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Plaat5	T	A	19: 7,614,663 (GRCm39)		probably null	Het
Plb1	T	A	5: 32,512,701 (GRCm39)	F1353Y	probably damaging	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pygo2	T	A	3: 89,340,461 (GRCm39)	N286K	possibly damaging	Het
Rttn	G	A	18: 89,004,204 (GRCm39)		probably null	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Sidt2	A	G	9: 45,866,200 (GRCm39)	I2T	probably benign	Het
Slc12a3	A	T	8: 95,072,974 (GRCm39)	N699I	possibly damaging	Het
Slc25a30	G	A	14: 76,000,112 (GRCm39)	Q285*	probably null	Het
Slc4a9	A	T	18: 36,668,592 (GRCm39)	H724L	probably damaging	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stac3	C	A	10: 127,343,616 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,446,566 (GRCm39)	K339E	probably benign	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tbc1d16	A	G	11: 119,049,555 (GRCm39)		probably null	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Trappc12	A	G	12: 28,797,259 (GRCm39)	V91A	probably benign	Het
Trim46	G	T	3: 89,143,820 (GRCm39)	P536Q	probably damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Vps4a	A	C	8: 107,769,698 (GRCm39)	I336L	probably benign	Het
Xylb	T	C	9: 119,210,653 (GRCm39)	S379P	probably damaging	Het
Zbtb37	T	C	1: 160,860,066 (GRCm39)	T80A	probably benign	Het
Zfhx3	A	G	8: 109,675,589 (GRCm39)	D2213G	probably damaging	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably damaging	Het
Zfp804b	A	T	5: 6,821,029 (GRCm39)	I642N	possibly damaging	Het
Zfp804b	A	T	5: 6,821,994 (GRCm39)	N356K	possibly damaging	Het

Other mutations in Mybpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2013-08-08