Mutagenetix > Incidental Mutation

Incidental Mutation 'R5316:Mybpc2'

405825

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

042899-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44151123-44174080 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 44169806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 171 (K171*)

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 null
Transcript: ENSMUST00000165208
AA Change: K171*

SMART Domains

Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: K171*

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	G	A	12: 113,455,013 (GRCm39)	R610H	probably damaging	Het
Agap2	G	A	10: 126,918,296 (GRCm39)		probably null	Het
Apol10a	A	G	15: 77,372,729 (GRCm39)	T122A	probably damaging	Het
Arhgap17	G	T	7: 122,895,750 (GRCm39)	A458D	possibly damaging	Het
Cd80	C	T	16: 38,294,239 (GRCm39)	Q41*	probably null	Het
Cmss1	T	G	16: 57,122,638 (GRCm39)	K252T	probably damaging	Het
Cog2	A	G	8: 125,255,779 (GRCm39)	D122G	probably benign	Het
Dsc3	T	A	18: 20,096,598 (GRCm39)	D841V	possibly damaging	Het
Dst	C	A	1: 34,262,929 (GRCm39)	Q4549K	probably damaging	Het
Efcab3	A	G	11: 104,967,286 (GRCm39)	I5275M	possibly damaging	Het
Epha6	A	G	16: 59,775,083 (GRCm39)	L711P	probably damaging	Het
Gabrg2	T	A	11: 41,867,385 (GRCm39)	N78I	probably damaging	Het
H1f1	C	T	13: 23,948,085 (GRCm39)		probably benign	Het
Htra3	T	C	5: 35,821,420 (GRCm39)	D319G	probably damaging	Het
Jph1	T	C	1: 17,161,750 (GRCm39)	Y304C	probably damaging	Het
Kat2a	G	T	11: 100,602,996 (GRCm39)	Q79K	possibly damaging	Het
Klhl7	C	T	5: 24,332,748 (GRCm39)	A102V	probably benign	Het
Lamb3	A	G	1: 193,012,501 (GRCm39)	H426R	probably benign	Het
Lemd3	C	A	10: 120,788,161 (GRCm39)		probably null	Het
Mcm3ap	A	C	10: 76,306,760 (GRCm39)	D291A	possibly damaging	Het
Micos13	G	A	17: 56,916,649 (GRCm39)	S7L	possibly damaging	Het
Mme	C	G	3: 63,276,375 (GRCm39)	F717L	probably damaging	Het
Naip6	T	C	13: 100,420,290 (GRCm39)	N1327D	probably benign	Het
Nr2e1	A	T	10: 42,447,487 (GRCm39)	M175K	probably benign	Het
Or8a1b	A	T	9: 37,622,981 (GRCm39)	V198D	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Ppef2	A	T	5: 92,383,670 (GRCm39)	M480K	probably benign	Het
Prkar2b	A	T	12: 32,110,984 (GRCm39)	L33Q	probably damaging	Het
Ralgps2	A	T	1: 156,641,067 (GRCm39)	V496E	probably damaging	Het
Rbms2	G	A	10: 127,981,606 (GRCm39)	P81L	probably damaging	Het
Scara5	T	C	14: 65,927,264 (GRCm39)	S54P	possibly damaging	Het
Slc18a3	T	C	14: 32,184,814 (GRCm39)	D523G	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Srrt	C	A	5: 137,294,813 (GRCm39)	A747S	probably benign	Het
Sycp2	C	T	2: 177,998,296 (GRCm39)	D1075N	probably benign	Het
Tasor	A	G	14: 27,193,992 (GRCm39)	D1064G	possibly damaging	Het
Vat1l	G	A	8: 115,011,088 (GRCm39)	V279I	probably damaging	Het
Zfp677	A	G	17: 21,617,410 (GRCm39)	K156E	probably 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
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
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'- TCAGTGGAGAGTGATAGAAAATTCC -3'
(R):5'- CACGGCCACTGAGAATCAAG -3'

Sequencing Primer
(F):5'- TAGAAAATTCCAGAAATCAACCTCTG -3'
(R):5'- GGGACCCTGGGTTAGATTTC -3'

Posted On

2016-07-22