Mutagenetix > Incidental Mutations

Incidental Mutation 'R0387:Cap2'

31365

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

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

Synonyms

MMRRC Submission

038593-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R0387 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

46501848-46650281 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46560516 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 79 (H79Y)

Ref Sequence

ENSEMBL: ENSMUSP00000112952 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021802
AA Change: H79Y

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: H79Y

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 damaging
Transcript: ENSMUST00000119341
AA Change: H79Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: H79Y

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: ENSMUST00000225824
AA Change: H24Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.1465

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

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
Abca15	T	G	7: 120,332,852		probably null	Het
Abcc9	T	A	6: 142,639,504	K825*	probably null	Het
Afp	T	C	5: 90,497,291	C189R	probably damaging	Het
Akap9	T	C	5: 3,951,678		probably benign	Het
Alpk3	A	T	7: 81,104,227	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,786,556	Q354K	probably benign	Het
Atxn2	T	C	5: 121,802,143	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,422,507		probably benign	Het
Cacna2d2	C	A	9: 107,513,881	T403K	probably damaging	Het
Car10	G	T	11: 93,583,021		probably null	Het
Ccno	T	C	13: 112,989,867	L290P	probably damaging	Het
Cfap69	T	C	5: 5,589,303	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,586,130	M568V	probably benign	Het
Cyp1b1	C	A	17: 79,713,774	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,295,552		probably null	Het
Dcp1a	T	C	14: 30,519,679		probably null	Het
Dnm1	C	T	2: 32,320,581	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,918,213	L698P	probably damaging	Het
Dock10	C	A	1: 80,540,276	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,546,855		noncoding transcript	Het
Dpyd	G	A	3: 119,427,226	D949N	probably benign	Het
Dync2li1	A	G	17: 84,655,340	K345E	possibly damaging	Het
Eml2	T	A	7: 19,182,259		probably null	Het
Exoc7	A	G	11: 116,294,401		probably benign	Het
Faah	A	T	4: 116,005,692	C113*	probably null	Het
Fcf1	T	A	12: 84,973,002	D16E	probably benign	Het
Fcgbp	T	C	7: 28,091,454		probably benign	Het
Ghr	A	G	15: 3,319,891	S602P	probably benign	Het
Gm10334	A	G	6: 41,443,369	I141T	possibly damaging	Het
Gm5114	T	C	7: 39,408,809	D462G	probably benign	Het
Gm8186	T	A	17: 26,099,026	S66C	probably damaging	Het
Gorab	C	T	1: 163,396,834	V133M	probably benign	Het
Gria1	G	A	11: 57,309,884		probably null	Het
Grik1	T	A	16: 88,034,350		probably benign	Het
Gtf3c1	A	G	7: 125,681,104	L378P	probably damaging	Het
Htr5b	A	T	1: 121,527,546	V215D	probably damaging	Het
Htra1	A	G	7: 130,979,478	T319A	probably damaging	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,609,734	H189Q	possibly damaging	Het
Lhfp	A	G	3: 53,043,328	T8A	probably benign	Het
Ly75	T	A	2: 60,306,404	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,281,096	I301T	possibly damaging	Het
Mlkl	C	T	8: 111,333,350	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,499,160	M1R	probably null	Het
Mroh2a	G	C	1: 88,246,042	A871P	probably damaging	Het
Mtbp	A	G	15: 55,611,029	I280V	possibly damaging	Het
Myo5c	A	T	9: 75,285,021		probably benign	Het
Nos3	A	G	5: 24,367,585	K174R	probably damaging	Het
Oas2	A	T	5: 120,745,672		probably benign	Het
Olfr889	T	A	9: 38,115,770		probably null	Het
Pi4kb	G	C	3: 94,984,740	E256Q	probably benign	Het
Pik3c2a	T	A	7: 116,373,744	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,432,601	K1031N	probably benign	Het
Plk4	A	T	3: 40,812,884		probably benign	Het
Polq	T	C	16: 37,029,430	C349R	probably damaging	Het
Polq	G	T	16: 37,089,317	E2354D	probably damaging	Het
Prss22	A	G	17: 23,993,929	L278P	probably damaging	Het
Ptprk	G	A	10: 28,354,629	V239I	possibly damaging	Het
Raph1	T	G	1: 60,510,496		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ripor3	C	T	2: 167,983,772	W755*	probably null	Het
Rnd3	G	T	2: 51,148,231	D77E	probably damaging	Het
Ryr1	T	C	7: 29,083,367		probably benign	Het
Serpinb1a	C	T	13: 32,848,738	V63I	probably benign	Het
Six1	T	G	12: 73,046,041	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,703,501	T271I	probably damaging	Het
Stab1	T	C	14: 31,148,101	D1387G	probably benign	Het
Stra6	T	A	9: 58,153,183	M625K	probably benign	Het
Syne1	T	C	10: 5,351,029	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,796,700	K101N	probably benign	Het
Tigd2	T	C	6: 59,211,158	Y337H	probably benign	Het
Tnxb	A	G	17: 34,683,574	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,686,935	I288T	probably damaging	Het
Ulk1	A	G	5: 110,788,797	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,957,376	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,800,947	M12L	probably benign	Het
Zfp106	T	C	2: 120,528,472		probably null	Het
Zfp74	T	A	7: 29,934,754	T510S	probably benign	Het
Zfp808	A	G	13: 62,169,478	T14A	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
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
R7972:Cap2	UTSW	13	46646575	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAAGCACCGTCTCGTGGCTAAG -3'
(R):5'- AGTGGTGGCATCCATTGTCAAACC -3'

Sequencing Primer
(F):5'- gttggttgtttctacacattttgg -3'
(R):5'- cacacacacacacacacacG -3'

Posted On

2013-04-24