Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:Cap2'

59064

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

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

Synonyms

MMRRC Submission

038475-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0234 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

46501848-46650281 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to C at 46638022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153125 (fasta)

Gene Model

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

AlphaFold

Q9CYT6

Predicted Effect

probably null
Transcript: ENSMUST00000021802

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373

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 null
Transcript: ENSMUST00000119341

SMART Domains

Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373

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 benign
Transcript: ENSMUST00000126687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225444

Predicted Effect

probably null
Transcript: ENSMUST00000225824

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	A	7: 131,194,303		probably null	Het
A3galt2	A	G	4: 128,767,148	R197G	possibly damaging	Het
Acacb	A	T	5: 114,209,817	H983L	probably damaging	Het
Adal	T	A	2: 121,148,317	D139E	probably benign	Het
Adam6b	G	A	12: 113,490,610	R349H	probably damaging	Het
Agap1	A	G	1: 89,671,212	K331E	probably damaging	Het
Alyref	T	C	11: 120,598,307	D11G	probably damaging	Het
B3gat1	A	G	9: 26,756,081	E203G	probably damaging	Het
Bsn	T	C	9: 108,116,396	E719G	possibly damaging	Het
Ccni	A	G	5: 93,202,327	V31A	probably benign	Het
Cfap54	A	T	10: 92,899,160	L2343*	probably null	Het
Clns1a	T	A	7: 97,714,032	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,644,500	T259I	probably damaging	Het
D430042O09Rik	T	C	7: 125,795,385	V211A	probably benign	Het
Dsp	A	G	13: 38,187,893	N940S	probably benign	Het
Erbb2	T	C	11: 98,436,439	V1181A	probably benign	Het
Exoc4	T	C	6: 33,862,087	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,463,464	V330A	possibly damaging	Het
Fam71a	T	C	1: 191,162,908	S513G	probably benign	Het
Fbf1	A	C	11: 116,155,034	F245V	probably damaging	Het
Fut10	T	A	8: 31,236,197	F327I	probably damaging	Het
Galnt1	C	T	18: 24,254,633	P144S	probably damaging	Het
Ghrhr	A	T	6: 55,379,186	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331	C1864S	probably damaging	Het
Hist1h1c	T	C	13: 23,739,123	I92T	probably benign	Het
Hps1	T	C	19: 42,762,553	E336G	probably damaging	Het
Ibsp	GGAAGAAGAAGAAGAAGA	GGAAGAAGAAGAAGA	5: 104,310,069		probably benign	Het
Irgc1	C	A	7: 24,433,328	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,828,280	R590*	probably null	Het
Lmln	T	C	16: 33,066,324	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,365,617	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,312,873	D119E	probably benign	Het
Mrc1	A	G	2: 14,279,894	T565A	possibly damaging	Het
Muc6	A	C	7: 141,649,674	N473K	possibly damaging	Het
Myocd	A	T	11: 65,187,240	D448E	probably benign	Het
Neil2	T	A	14: 63,183,526	I239F	probably damaging	Het
Npnt	A	G	3: 132,914,414	F123S	possibly damaging	Het
Olfr1164	T	A	2: 88,093,022	R305*	probably null	Het
Olfr117	T	A	17: 37,660,106	I76F	probably damaging	Het
Olfr1309	T	C	2: 111,983,300	Y258C	probably damaging	Het
Olfr1501	C	T	19: 13,838,538	V212M	possibly damaging	Het
Olfr683	T	C	7: 105,144,074	D73G	probably damaging	Het
Olfr686	C	A	7: 105,203,614	C243F	probably damaging	Het
Olfr933	A	C	9: 38,976,251		probably null	Het
Pcnx3	T	C	19: 5,672,618	T941A	probably benign	Het
Phldb3	G	A	7: 24,612,579	R106Q	probably benign	Het
Pitrm1	C	A	13: 6,575,079	Y864*	probably null	Het
Plcb4	T	C	2: 135,982,075	I844T	probably benign	Het
Plekhg5	T	C	4: 152,112,219	C695R	probably damaging	Het
Ppp1r3b	T	A	8: 35,384,501	F165I	probably damaging	Het
Prr5	T	A	15: 84,703,121	F357L	probably damaging	Het
Rasgrf1	A	T	9: 90,009,366	I1046F	probably damaging	Het
Rbm15b	T	C	9: 106,885,364	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,955,901	E602V	probably damaging	Het
Rimklb	T	C	6: 122,456,333	N343S	probably benign	Het
Rrp12	A	G	19: 41,871,760	L1008P	probably damaging	Het
Sec63	C	T	10: 42,798,798	R226C	probably damaging	Het
Sirpa	T	C	2: 129,615,468	V154A	probably damaging	Het
Slc13a5	C	G	11: 72,250,800	V405L	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc22a23	G	A	13: 34,183,261	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,926,791		probably benign	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slc5a5	A	T	8: 70,889,633	M258K	probably damaging	Het
Spry4	A	G	18: 38,590,089	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,529,067	D460G	possibly damaging	Het
Syn3	T	A	10: 86,448,886	I117F	possibly damaging	Het
Tead4	C	T	6: 128,243,402	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,450,322	N546K	probably benign	Het
Tnn	T	A	1: 160,088,466	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,758,704	G62D	probably damaging	Het
Trf	T	C	9: 103,226,879		probably null	Het
Ubr5	T	C	15: 37,968,493	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,231,619	T56S	probably benign	Het
Wipf3	T	G	6: 54,496,501	L458R	probably damaging	Het
Zfp236	T	C	18: 82,629,994	K966R	probably damaging	Het
Zfp27	T	A	7: 29,894,107	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,234,260	H496R	probably damaging	Het
Zfp467	A	T	6: 48,438,755	V321E	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
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
R4876:Cap2	UTSW	13	46531021	start codon destroyed	probably null
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'- TGATTGTACCTACGCTGTGCCACC -3'
(R):5'- CAAGACTGTAGACGTGCCTGGTTTC -3'

Sequencing Primer
(F):5'- caagacaatcccccacagac -3'
(R):5'- ACGTGCCTGGTTTCTCATTTTG -3'

Posted On

2013-07-11