Mutagenetix > Incidental Mutation

Incidental Mutation 'R4913:Mybpc3'

500827

Institutional Source

Beutler Lab

Gene Symbol

Mybpc3

Ensembl Gene

ENSMUSG00000002100

Gene Name

myosin binding protein C, cardiac

Synonyms

cardiac C-protein

MMRRC Submission

042515-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.624) question?

Stock #

R4913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90948489-90966861 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90956609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 637 (E637G)

Ref Sequence

ENSEMBL: ENSMUSP00000127070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111430] [ENSMUST00000137942] [ENSMUST00000169776]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111430
AA Change: E636G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: E636G

Domain	Start	End	E-Value	Type
IG	24	103	4.86e-2	SMART
low complexity region	131	143	N/A	INTRINSIC
IG	167	263	2.81e-7	SMART
IG	373	453	1.25e-4	SMART
IG	463	544	2.48e-8	SMART
IG	554	640	3.16e-1	SMART
IG	659	772	3.91e-6	SMART
FN3	775	858	2.5e-11	SMART
FN3	873	956	7.06e-11	SMART
IG	983	1066	3.3e-4	SMART
FN3	1069	1151	4.38e-7	SMART
IGc2	1196	1263	6.21e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137942
AA Change: E472G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: E472G

Domain	Start	End	E-Value	Type
IG	3	99	2.81e-7	SMART
low complexity region	135	152	N/A	INTRINSIC
IG	209	289	1.25e-4	SMART
IG	299	380	2.48e-8	SMART
IG	390	476	3.16e-1	SMART
IG	495	608	3.91e-6	SMART
FN3	611	694	2.5e-11	SMART
FN3	709	792	7.06e-11	SMART
IG	819	902	3.3e-4	SMART
FN3	905	987	4.38e-7	SMART
IGc2	1032	1099	6.21e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169776
AA Change: E637G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: E637G

Domain	Start	End	E-Value	Type
IG	24	103	4.86e-2	SMART
low complexity region	131	143	N/A	INTRINSIC
IG	167	263	2.81e-7	SMART
IG	374	454	1.25e-4	SMART
IG	464	545	2.48e-8	SMART
IG	555	641	3.16e-1	SMART
IG	660	773	3.91e-6	SMART
FN3	776	859	2.5e-11	SMART
FN3	874	957	7.06e-11	SMART
IG	984	1067	3.3e-4	SMART
FN3	1070	1152	4.38e-7	SMART
IGc2	1197	1264	6.21e-9	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,255,381 (GRCm39)	M267K	possibly damaging	Het
Acsm5	T	C	7: 119,133,566 (GRCm39)	S244P	probably damaging	Het
Actr6	A	G	10: 89,550,808 (GRCm39)	F329L	probably benign	Het
Actrt3	A	G	3: 30,652,588 (GRCm39)	S169P	probably benign	Het
Agtpbp1	C	A	13: 59,647,886 (GRCm39)	G645C	probably damaging	Het
AI661453	C	T	17: 47,779,480 (GRCm39)	R1069*	probably null	Het
Akr1c6	T	C	13: 4,504,524 (GRCm39)	I303T	probably benign	Het
Arnt	A	G	3: 95,397,965 (GRCm39)	R588G	probably damaging	Het
Atf1	A	G	15: 100,149,979 (GRCm39)		probably null	Het
Casp12	T	C	9: 5,358,726 (GRCm39)	V318A	probably damaging	Het
Cblb	C	T	16: 51,986,392 (GRCm39)	P545L	possibly damaging	Het
Cc2d2a	A	T	5: 43,896,665 (GRCm39)	I1521F	probably benign	Het
Ccn2	T	C	10: 24,473,225 (GRCm39)	C255R	probably damaging	Het
Ccnb1ip1	T	A	14: 51,029,601 (GRCm39)	K154*	probably null	Het
Cd300a	A	T	11: 114,784,198 (GRCm39)	K69*	probably null	Het
Cdin1	A	G	2: 115,500,568 (GRCm39)		probably null	Het
Clec10a	A	G	11: 70,060,851 (GRCm39)	Y78C	probably damaging	Het
Cnot1	T	C	8: 96,489,695 (GRCm39)	I503V	possibly damaging	Het
Cpa2	A	G	6: 30,554,292 (GRCm39)	H304R	probably damaging	Het
Crb2	A	T	2: 37,680,257 (GRCm39)	H395L	probably benign	Het
Dnah8	T	A	17: 31,038,113 (GRCm39)	N4257K	probably damaging	Het
Dnase2a	G	A	8: 85,635,477 (GRCm39)	D25N	probably damaging	Het
Drd1	T	C	13: 54,207,186 (GRCm39)	T343A	probably benign	Het
Emid1	G	A	11: 5,082,012 (GRCm39)	T161I	probably benign	Het
Epn2	A	G	11: 61,425,402 (GRCm39)		probably null	Het
Esp36	A	T	17: 38,728,055 (GRCm39)	N75K	possibly damaging	Het
Faf1	A	G	4: 109,792,746 (GRCm39)	S573G	possibly damaging	Het
Fam149a	T	G	8: 45,806,920 (GRCm39)	S231R	probably damaging	Het
Fam78a	T	C	2: 31,959,774 (GRCm39)	E112G	probably damaging	Het
Fgf18	T	C	11: 33,084,316 (GRCm39)	D46G	probably benign	Het
Fggy	G	A	4: 95,585,313 (GRCm39)		probably null	Het
Foxb1	T	C	9: 69,666,859 (GRCm39)	M224V	probably benign	Het
Gpr75	T	C	11: 30,841,808 (GRCm39)	C238R	possibly damaging	Het
Gsdmc3	A	G	15: 63,730,122 (GRCm39)	*481R	probably null	Het
H2az2	C	A	11: 6,383,750 (GRCm39)	A57S	probably damaging	Het
Hsd17b11	T	C	5: 104,140,748 (GRCm39)	I250V	probably benign	Het
Hus1	C	A	11: 8,946,856 (GRCm39)	L280F	probably benign	Het
Ide	A	T	19: 37,306,469 (GRCm39)	H101Q	unknown	Het
Ido1	T	C	8: 25,074,533 (GRCm39)	D279G	probably benign	Het
Inpp5b	T	C	4: 124,674,214 (GRCm39)	V307A	probably benign	Het
Ipo5	G	A	14: 121,172,498 (GRCm39)	V519I	probably damaging	Het
Krba1	T	C	6: 48,383,891 (GRCm39)	V239A	probably benign	Het
Lmod3	A	G	6: 97,224,125 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,393,682 (GRCm39)	D836G	probably damaging	Het
Malt1	G	T	18: 65,609,351 (GRCm39)	C774F	probably damaging	Het
Map2k4	C	A	11: 65,600,758 (GRCm39)	D58Y	probably damaging	Het
Mc2r	T	C	18: 68,540,411 (GRCm39)	N294S	probably benign	Het
Mybpc1	A	G	10: 88,389,116 (GRCm39)		probably null	Het
Narf	A	G	11: 121,135,469 (GRCm39)	Q107R	probably damaging	Het
Nlrp3	G	A	11: 59,440,064 (GRCm39)	G547D	probably benign	Het
Nucb2	G	T	7: 116,123,540 (GRCm39)	G51*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Otog	C	A	7: 45,913,526 (GRCm39)	D786E	probably benign	Het
Otogl	T	C	10: 107,712,716 (GRCm39)	T543A	probably damaging	Het
Pgap6	T	C	17: 26,339,513 (GRCm39)	F584L	probably damaging	Het
Phf20l1	A	G	15: 66,476,704 (GRCm39)	N266S	probably benign	Het
Pink1	G	T	4: 138,042,866 (GRCm39)	S446*	probably null	Het
Pkp4	T	G	2: 59,135,794 (GRCm39)	H186Q	probably damaging	Het
Prl3b1	T	C	13: 27,433,460 (GRCm39)	V205A	probably damaging	Het
Prss32	T	C	17: 24,078,157 (GRCm39)	V281A	probably damaging	Het
Psd3	C	T	8: 68,573,821 (GRCm39)	C120Y	probably damaging	Het
Ptcra	A	G	17: 47,069,574 (GRCm39)	L99P	probably damaging	Het
Rab3gap2	C	T	1: 184,995,026 (GRCm39)	T855I	probably benign	Het
Rabgap1l	T	C	1: 160,066,111 (GRCm39)	E199G	probably damaging	Het
Rbm44	T	A	1: 91,083,216 (GRCm39)	C580S	probably damaging	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rhoq	T	C	17: 87,302,493 (GRCm39)	V143A	probably benign	Het
Sacs	T	A	14: 61,451,246 (GRCm39)	Y4431N	probably benign	Het
Sec24b	A	T	3: 129,796,028 (GRCm39)	S367T	probably benign	Het
Sema4c	G	A	1: 36,589,266 (GRCm39)	S620F	probably benign	Het
Slc12a1	G	A	2: 125,070,670 (GRCm39)	G1054E	probably damaging	Het
Slc16a3	A	G	11: 120,848,794 (GRCm39)	R417G	probably benign	Het
Slc22a29	A	T	19: 8,195,722 (GRCm39)	S106T	probably benign	Het
Slc41a2	T	C	10: 83,149,284 (GRCm39)	T220A	probably damaging	Het
Tap1	T	C	17: 34,412,468 (GRCm39)	F474L	possibly damaging	Het
Tas2r106	G	T	6: 131,655,422 (GRCm39)	A143D	probably benign	Het
Tbx6	A	T	7: 126,383,707 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,706 (GRCm39)	N402I	probably damaging	Het
Tle3	T	A	9: 61,281,275 (GRCm39)	V22E	probably damaging	Het
Trip4	T	C	9: 65,765,639 (GRCm39)	I353M	probably damaging	Het
Ubr2	C	A	17: 47,270,385 (GRCm39)		probably null	Het
Ugdh	A	G	5: 65,580,791 (GRCm39)		probably null	Het
Uhrf1	T	C	17: 56,622,478 (GRCm39)	V431A	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Zfp820	T	C	17: 22,038,200 (GRCm39)	K376R	probably benign	Het

Other mutations in Mybpc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Mybpc3	APN	2	90,950,374 (GRCm39)	missense	probably benign
IGL00985:Mybpc3	APN	2	90,965,704 (GRCm39)	missense	probably benign	0.16
IGL01926:Mybpc3	APN	2	90,965,752 (GRCm39)	missense	possibly damaging	0.61
IGL02135:Mybpc3	APN	2	90,955,171 (GRCm39)	missense	possibly damaging	0.58
IGL02187:Mybpc3	APN	2	90,965,797 (GRCm39)	missense	probably benign
IGL02219:Mybpc3	APN	2	90,951,368 (GRCm39)	critical splice acceptor site	probably null
IGL02752:Mybpc3	APN	2	90,962,982 (GRCm39)	critical splice acceptor site	probably null
IGL03002:Mybpc3	APN	2	90,954,234 (GRCm39)	missense	probably damaging	1.00
IGL03118:Mybpc3	APN	2	90,954,848 (GRCm39)	missense	probably damaging	1.00
IGL03238:Mybpc3	APN	2	90,962,004 (GRCm39)	missense	probably damaging	1.00
amanitin	UTSW	2	90,948,524 (GRCm39)	missense	probably null	0.98
fungus	UTSW	2	90,954,306 (GRCm39)	missense	possibly damaging	0.87
R0010:Mybpc3	UTSW	2	90,965,178 (GRCm39)	nonsense	probably null
R0114:Mybpc3	UTSW	2	90,954,839 (GRCm39)	missense	probably damaging	1.00
R0139:Mybpc3	UTSW	2	90,950,682 (GRCm39)	splice site	probably benign
R0282:Mybpc3	UTSW	2	90,954,369 (GRCm39)	splice site	probably benign
R0673:Mybpc3	UTSW	2	90,950,772 (GRCm39)	missense	probably damaging	1.00
R1388:Mybpc3	UTSW	2	90,953,219 (GRCm39)	missense	probably benign	0.43
R2159:Mybpc3	UTSW	2	90,955,715 (GRCm39)	missense	probably damaging	1.00
R2424:Mybpc3	UTSW	2	90,966,138 (GRCm39)	missense	probably benign	0.20
R3983:Mybpc3	UTSW	2	90,965,714 (GRCm39)	missense	probably benign
R4322:Mybpc3	UTSW	2	90,954,306 (GRCm39)	missense	possibly damaging	0.87
R4909:Mybpc3	UTSW	2	90,965,157 (GRCm39)	missense	probably benign
R4965:Mybpc3	UTSW	2	90,949,592 (GRCm39)	missense	possibly damaging	0.50
R5248:Mybpc3	UTSW	2	90,955,573 (GRCm39)	splice site	probably null
R5311:Mybpc3	UTSW	2	90,959,023 (GRCm39)	nonsense	probably null
R5332:Mybpc3	UTSW	2	90,953,283 (GRCm39)	missense	probably damaging	1.00
R5635:Mybpc3	UTSW	2	90,965,174 (GRCm39)	missense	probably benign	0.00
R5647:Mybpc3	UTSW	2	90,952,067 (GRCm39)	splice site	probably null
R5698:Mybpc3	UTSW	2	90,955,194 (GRCm39)	missense	possibly damaging	0.85
R5832:Mybpc3	UTSW	2	90,949,520 (GRCm39)	splice site	probably null
R5895:Mybpc3	UTSW	2	90,955,010 (GRCm39)	missense	probably damaging	0.99
R6833:Mybpc3	UTSW	2	90,955,773 (GRCm39)	splice site	probably null
R7061:Mybpc3	UTSW	2	90,955,749 (GRCm39)	missense	possibly damaging	0.93
R7144:Mybpc3	UTSW	2	90,964,949 (GRCm39)	missense	probably benign	0.03
R7169:Mybpc3	UTSW	2	90,948,524 (GRCm39)	missense	possibly damaging	0.85
R7472:Mybpc3	UTSW	2	90,962,001 (GRCm39)	missense	probably damaging	1.00
R7538:Mybpc3	UTSW	2	90,950,832 (GRCm39)	missense	probably damaging	1.00
R7677:Mybpc3	UTSW	2	90,959,376 (GRCm39)	missense	probably benign	0.04
R7955:Mybpc3	UTSW	2	90,956,401 (GRCm39)	splice site	probably null
R8290:Mybpc3	UTSW	2	90,951,473 (GRCm39)	missense	probably benign	0.00
R8486:Mybpc3	UTSW	2	90,959,117 (GRCm39)	missense	probably damaging	1.00
R8821:Mybpc3	UTSW	2	90,948,524 (GRCm39)	missense	probably null	0.98
R8885:Mybpc3	UTSW	2	90,954,237 (GRCm39)	missense	probably benign
R8938:Mybpc3	UTSW	2	90,954,294 (GRCm39)	missense	probably damaging	1.00
R9420:Mybpc3	UTSW	2	90,965,478 (GRCm39)	nonsense	probably null
R9581:Mybpc3	UTSW	2	90,949,616 (GRCm39)	missense	probably benign
Z1088:Mybpc3	UTSW	2	90,965,704 (GRCm39)	missense	probably benign	0.16
Z1176:Mybpc3	UTSW	2	90,950,748 (GRCm39)	missense	possibly damaging	0.85
Z1177:Mybpc3	UTSW	2	90,954,309 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCACTTCATGGGTGAGCTAG -3'
(R):5'- AACCTGTGGTCCTGGGTG -3'

Sequencing Primer
(F):5'- CACTTCATGGGTGAGCTAGCATTG -3'
(R):5'- AGTGCCTCCATAAGATCAGGCTG -3'

Posted On

2017-12-01