Mutagenetix > Incidental Mutation

Incidental Mutation 'R4876:Cap2'

376908

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

CAP, adenylate cyclase-associated protein, 2 (yeast)

Synonyms

MMRRC Submission

042485-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R4876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46501848-46650281 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 46531021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000153125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021802] [ENSMUST00000119341] [ENSMUST00000225824]

AlphaFold

Q9CYT6

Predicted Effect

probably benign
Transcript: ENSMUST00000021802
AA Change: M56V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: M56V

Domain	Start	End	E-Value	Type
Pfam:CAP_N	5	301	2.6e-117	PFAM
CARP	358	395	1.06e-10	SMART
CARP	396	433	1.12e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119341
AA Change: M56V

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: M56V

Domain	Start	End	E-Value	Type
Pfam:CAP_N	4	105	1.8e-25	PFAM
Pfam:CAP_N	99	198	8.2e-29	PFAM
CARP	246	283	1.06e-10	SMART
CARP	284	321	1.12e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000225824
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.1053

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

99% (97/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are smaller, prone to eye infections and show microphthalmia, cardiac conduction defects and dilated cardiomyopathy, predominantly in males. Males are underrepresented at weaning and ~70% die suddenly by 12 weeks of age, whereas females survive at nearly expected levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	C	T	9: 94,537,577	R100H	probably damaging	Het
4930562C15Rik	T	C	16: 4,849,672	F309S	unknown	Het
9530053A07Rik	A	T	7: 28,142,800		probably benign	Het
A630001G21Rik	C	T	1: 85,719,040	V167M	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ano4	A	G	10: 89,112,835	F138L	probably damaging	Het
Aoc1	T	C	6: 48,906,747	V519A	possibly damaging	Het
Arhgef37	A	T	18: 61,498,239	Y558*	probably null	Het
Atxn3	T	A	12: 101,948,379	S29C	probably damaging	Het
Bbs2	T	C	8: 94,070,160		probably benign	Het
BC052040	A	C	2: 115,670,058	H159P	probably damaging	Het
Bicral	A	T	17: 46,825,576	I236N	probably damaging	Het
Cabcoco1	A	G	10: 68,541,769	V30A	probably benign	Het
Ccdc153	T	C	9: 44,241,008	M1T	probably null	Het
Ccnf	A	T	17: 24,230,337	V489D	probably damaging	Het
Cntnap3	T	C	13: 64,787,706	T448A	probably benign	Het
Cpa4	G	A	6: 30,590,815	D371N	probably benign	Het
Csl	T	A	10: 99,758,540	Y221F	possibly damaging	Het
Dalrd3	T	C	9: 108,571,436		probably benign	Het
Dennd4a	T	A	9: 64,896,590	N1070K	probably benign	Het
Dmwd	A	T	7: 19,080,547	D374V	probably damaging	Het
Eea1	G	T	10: 95,995,613	A189S	probably benign	Het
Fasn	A	G	11: 120,812,312	V1629A	probably damaging	Het
Fndc1	T	C	17: 7,771,639	D1075G	unknown	Het
Fsip2	A	G	2: 82,974,858	N507S	possibly damaging	Het
Gabra5	T	G	7: 57,413,665	E337A	probably damaging	Het
Gsg1l	A	G	7: 125,891,669	Y288H	probably benign	Het
H2-M11	A	T	17: 36,547,509	D65V	probably benign	Het
Hmgxb3	A	T	18: 61,146,534	C736S	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,644	I121N	probably damaging	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Il16	A	C	7: 83,673,094	S338A	probably benign	Het
Itpr1	G	A	6: 108,482,906	A2054T	probably damaging	Het
Lamp3	T	A	16: 19,655,470	I385F	probably damaging	Het
Limch1	G	A	5: 66,881,927	V66I	possibly damaging	Het
Lmod2	A	G	6: 24,604,279	R418G	probably benign	Het
Ly6g6c	A	T	17: 35,069,440	D96V	probably damaging	Het
Map2k2	G	A	10: 81,115,113	V131M	probably damaging	Het
Mapk9	T	C	11: 49,854,325	V22A	probably damaging	Het
Mettl2	T	C	11: 105,129,068	I177T	probably damaging	Het
Mob4	C	T	1: 55,152,836		probably benign	Het
Mybpc1	T	C	10: 88,522,991	I1113V	probably benign	Het
Mybpc1	A	T	10: 88,536,424	N781K	probably benign	Het
Myom1	A	G	17: 71,077,410	T707A	probably damaging	Het
Ncam2	G	A	16: 81,490,346	A383T	probably benign	Het
Nomo1	T	C	7: 46,066,491	S761P	probably damaging	Het
Nsd3	T	A	8: 25,691,134	S921T	possibly damaging	Het
Olfr268-ps1	C	G	2: 111,844,695		noncoding transcript	Het
Olfr934	A	T	9: 38,982,626	C139*	probably null	Het
Olfr985	C	T	9: 40,127,218	V248I	probably damaging	Het
Omp	A	T	7: 98,145,026	D131E	probably benign	Het
Pard3	T	C	8: 127,561,469		probably benign	Het
Parg	A	G	14: 32,271,668	T286A	probably damaging	Het
Parp1	T	A	1: 180,569,035	M1K	probably null	Het
Pclo	T	A	5: 14,811,680	S4882R	unknown	Het
Pcnx2	C	T	8: 125,772,108	E1551K	probably damaging	Het
Pcyox1l	A	G	18: 61,699,494	Y161H	probably damaging	Het
Pdzd8	A	T	19: 59,300,804	C721*	probably null	Het
Piwil4	T	C	9: 14,740,465	D90G	probably benign	Het
Plxdc2	T	A	2: 16,703,318	C306S	probably damaging	Het
Plxna2	T	A	1: 194,643,775	F6I	probably benign	Het
Prkaa1	T	C	15: 5,174,405	M265T	probably benign	Het
Prrc2b	T	C	2: 32,214,200	V1230A	probably benign	Het
Rfx2	T	C	17: 56,784,706	E329G	probably benign	Het
Scg2	T	C	1: 79,435,919	I322M	probably damaging	Het
Scly	T	A	1: 91,320,128	N399K	probably damaging	Het
Sec23b	T	A	2: 144,586,361		probably null	Het
Sephs2	A	T	7: 127,273,047	Y291*	probably null	Het
Slc45a3	T	C	1: 131,981,547	I494T	possibly damaging	Het
Slc6a21	C	A	7: 45,280,111	Y76*	probably null	Het
Slfn14	T	A	11: 83,276,272	I806L	possibly damaging	Het
Slfn4	T	A	11: 83,187,018	S211T	probably benign	Het
Sptbn4	A	G	7: 27,372,152	V1624A	probably damaging	Het
Sugp1	T	A	8: 70,071,184	M567K	probably damaging	Het
Tmem121	A	T	12: 113,188,728	M189L	probably benign	Het
Tmem201	A	G	4: 149,722,270	S444P	probably damaging	Het
Tmem63a	T	C	1: 180,973,186	V744A	probably benign	Het
Tnrc18	G	A	5: 142,731,625	S2358F	unknown	Het
Ubash3b	A	G	9: 41,018,109	V404A	probably benign	Het
Unc13c	A	T	9: 73,749,539	C1127S	probably damaging	Het
Unc5a	T	C	13: 54,997,229	V253A	probably benign	Het
Vmn1r-ps123	C	T	13: 22,996,365		noncoding transcript	Het
Wdr74	A	G	19: 8,739,485	E253G	possibly damaging	Het
Wwox	T	C	8: 114,448,248	Y107H	probably damaging	Het
Zdhhc22	A	T	12: 86,988,238	Y147N	probably damaging	Het
Zfp131	T	C	13: 119,788,955	H44R	possibly damaging	Het
Zfp235	A	G	7: 24,140,959	T268A	probably benign	Het
Zfp280d	T	C	9: 72,298,858		probably benign	Het
Zfp358	T	C	8: 3,496,170	S251P	probably damaging	Het

Other mutations in Cap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Cap2	APN	13	46639949	splice site	probably benign
IGL01927:Cap2	APN	13	46635633	missense	probably benign	0.03
IGL02213:Cap2	APN	13	46635611	splice site	probably benign
IGL02511:Cap2	APN	13	46531022	start codon destroyed	probably null	0.12
IGL02871:Cap2	APN	13	46525492	missense	probably benign	0.00
R0063:Cap2	UTSW	13	46638032	splice site	probably benign
R0063:Cap2	UTSW	13	46638032	splice site	probably benign
R0234:Cap2	UTSW	13	46638022	critical splice donor site	probably null
R0234:Cap2	UTSW	13	46638022	critical splice donor site	probably null
R0385:Cap2	UTSW	13	46560547	missense	probably damaging	1.00
R0387:Cap2	UTSW	13	46560516	missense	probably damaging	0.99
R0712:Cap2	UTSW	13	46615361	splice site	probably null
R1489:Cap2	UTSW	13	46609635	missense	probably damaging	1.00
R1666:Cap2	UTSW	13	46615323	missense	probably damaging	0.98
R1668:Cap2	UTSW	13	46615323	missense	probably damaging	0.98
R1676:Cap2	UTSW	13	46637859	missense	probably damaging	1.00
R1756:Cap2	UTSW	13	46531013	missense	probably benign	0.11
R1822:Cap2	UTSW	13	46615347	missense	probably benign	0.03
R1867:Cap2	UTSW	13	46640079	missense	probably damaging	1.00
R1972:Cap2	UTSW	13	46637899	missense	probably damaging	0.98
R1990:Cap2	UTSW	13	46637881	missense	possibly damaging	0.93
R1991:Cap2	UTSW	13	46637881	missense	possibly damaging	0.93
R1992:Cap2	UTSW	13	46637881	missense	possibly damaging	0.93
R2144:Cap2	UTSW	13	46560502	critical splice acceptor site	probably null
R3039:Cap2	UTSW	13	46639841	missense	probably benign	0.20
R4024:Cap2	UTSW	13	46637841	splice site	probably benign
R4554:Cap2	UTSW	13	46635774	missense	probably damaging	1.00
R4748:Cap2	UTSW	13	46639826	missense	possibly damaging	0.64
R4821:Cap2	UTSW	13	46610110	missense	probably damaging	0.99
R4902:Cap2	UTSW	13	46531025	missense	probably damaging	0.99
R5320:Cap2	UTSW	13	46648364	makesense	probably null
R5666:Cap2	UTSW	13	46531083	splice site	probably null
R5670:Cap2	UTSW	13	46531083	splice site	probably null
R6086:Cap2	UTSW	13	46635712	missense	probably damaging	1.00
R6728:Cap2	UTSW	13	46639859	missense	possibly damaging	0.87
R6842:Cap2	UTSW	13	46646625	missense	probably damaging	1.00
R7785:Cap2	UTSW	13	46635748	missense	probably benign
R7889:Cap2	UTSW	13	46646575	missense	probably damaging	0.99
R8065:Cap2	UTSW	13	46637861	missense	probably damaging	1.00
R8205:Cap2	UTSW	13	46615263	missense	probably damaging	1.00
R8425:Cap2	UTSW	13	46609732	missense	probably damaging	0.98
R8731:Cap2	UTSW	13	46646530	missense	probably benign	0.00
R8738:Cap2	UTSW	13	46531072	missense	probably benign	0.00
R9320:Cap2	UTSW	13	46615342	missense	probably benign	0.04
R9491:Cap2	UTSW	13	46637890	missense	possibly damaging	0.92
R9686:Cap2	UTSW	13	46525450	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGGCCAAGGGGATTTTC -3'
(R):5'- GAATTCCTGGTACCTTCTGATGC -3'

Sequencing Primer
(F):5'- TTCCGGAGCCATCGTAAATG -3'
(R):5'- CTGGTACCTTCTGATGCTTTAATTAG -3'

Posted On

2016-03-17