Mutagenetix > Incidental Mutation

Incidental Mutation 'R0387:Cap2'

31365

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

cyclase associated actin cytoskeleton regulatory protein 2

Synonyms

2810452G09Rik

MMRRC Submission

038593-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0387 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

46655379-46803757 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46713992 bp (GRCm39)

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]

AlphaFold

Q9CYT6

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: 119,932,075 (GRCm39)		probably null	Het
Abcc9	T	A	6: 142,585,230 (GRCm39)	K825*	probably null	Het
Afp	T	C	5: 90,645,150 (GRCm39)	C189R	probably damaging	Het
Akap9	T	C	5: 4,001,678 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,753,975 (GRCm39)	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,714,278 (GRCm39)	Q354K	probably benign	Het
Atxn2	T	C	5: 121,940,206 (GRCm39)	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,071,714 (GRCm39)		probably benign	Het
Cacna2d2	C	A	9: 107,391,080 (GRCm39)	T403K	probably damaging	Het
Car10	G	T	11: 93,473,847 (GRCm39)		probably null	Het
Ccno	T	C	13: 113,126,401 (GRCm39)	L290P	probably damaging	Het
Cfap69	T	C	5: 5,639,303 (GRCm39)	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,421,909 (GRCm39)	M568V	probably benign	Het
Cyp1b1	C	A	17: 80,021,203 (GRCm39)	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,089,201 (GRCm39)		probably null	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnm1	C	T	2: 32,210,593 (GRCm39)	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,829,509 (GRCm39)	L698P	probably damaging	Het
Dock10	C	A	1: 80,517,993 (GRCm39)	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,683,363 (GRCm39)		noncoding transcript	Het
Dpyd	G	A	3: 119,220,875 (GRCm39)	D949N	probably benign	Het
Dync2li1	A	G	17: 84,962,768 (GRCm39)	K345E	possibly damaging	Het
Eml2	T	A	7: 18,916,184 (GRCm39)		probably null	Het
Exoc7	A	G	11: 116,185,227 (GRCm39)		probably benign	Het
Faah	A	T	4: 115,862,889 (GRCm39)	C113*	probably null	Het
Fcf1	T	A	12: 85,019,776 (GRCm39)	D16E	probably benign	Het
Fcgbp	T	C	7: 27,790,879 (GRCm39)		probably benign	Het
Ghr	A	G	15: 3,349,373 (GRCm39)	S602P	probably benign	Het
Gm5114	T	C	7: 39,058,233 (GRCm39)	D462G	probably benign	Het
Gm8186	T	A	17: 26,318,000 (GRCm39)	S66C	probably damaging	Het
Gorab	C	T	1: 163,224,403 (GRCm39)	V133M	probably benign	Het
Gria1	G	A	11: 57,200,710 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,831,238 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,280,276 (GRCm39)	L378P	probably damaging	Het
Htr5b	A	T	1: 121,455,275 (GRCm39)	V215D	probably damaging	Het
Htra1	A	G	7: 130,581,208 (GRCm39)	T319A	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,586,697 (GRCm39)	H189Q	possibly damaging	Het
Lhfpl6	A	G	3: 52,950,749 (GRCm39)	T8A	probably benign	Het
Ly75	T	A	2: 60,136,748 (GRCm39)	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,189,531 (GRCm39)	I301T	possibly damaging	Het
Mlkl	C	T	8: 112,059,982 (GRCm39)	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,148,908 (GRCm39)	M1R	probably null	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Mtbp	A	G	15: 55,474,425 (GRCm39)	I280V	possibly damaging	Het
Myo5c	A	T	9: 75,192,303 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,572,583 (GRCm39)	K174R	probably damaging	Het
Oas2	A	T	5: 120,883,737 (GRCm39)		probably benign	Het
Or8b40	T	A	9: 38,027,066 (GRCm39)		probably null	Het
Pi4kb	G	C	3: 94,892,051 (GRCm39)	E256Q	probably benign	Het
Pik3c2a	T	A	7: 115,972,979 (GRCm39)	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,262,945 (GRCm39)	K1031N	probably benign	Het
Plk4	A	T	3: 40,767,319 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,849,792 (GRCm39)	C349R	probably damaging	Het
Polq	G	T	16: 36,909,679 (GRCm39)	E2354D	probably damaging	Het
Prss22	A	G	17: 24,212,903 (GRCm39)	L278P	probably damaging	Het
Prss3l	A	G	6: 41,420,303 (GRCm39)	I141T	possibly damaging	Het
Ptprk	G	A	10: 28,230,625 (GRCm39)	V239I	possibly damaging	Het
Raph1	T	G	1: 60,549,655 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor3	C	T	2: 167,825,692 (GRCm39)	W755*	probably null	Het
Rnd3	G	T	2: 51,038,243 (GRCm39)	D77E	probably damaging	Het
Ryr1	T	C	7: 28,782,792 (GRCm39)		probably benign	Het
Serpinb1a	C	T	13: 33,032,721 (GRCm39)	V63I	probably benign	Het
Six1	T	G	12: 73,092,815 (GRCm39)	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,851,315 (GRCm39)	T271I	probably damaging	Het
Stab1	T	C	14: 30,870,058 (GRCm39)	D1387G	probably benign	Het
Stra6	T	A	9: 58,060,466 (GRCm39)	M625K	probably benign	Het
Syne1	T	C	10: 5,301,029 (GRCm39)	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,704,007 (GRCm39)	K101N	probably benign	Het
Tigd2	T	C	6: 59,188,143 (GRCm39)	Y337H	probably benign	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,687,081 (GRCm39)	I288T	probably damaging	Het
Ulk1	A	G	5: 110,936,663 (GRCm39)	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,776,194 (GRCm39)	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,949,066 (GRCm39)	M12L	probably benign	Het
Zfp106	T	C	2: 120,358,953 (GRCm39)		probably null	Het
Zfp74	T	A	7: 29,634,179 (GRCm39)	T510S	probably benign	Het
Zfp808	A	G	13: 62,317,292 (GRCm39)	T14A	probably damaging	Het

Other mutations in Cap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Cap2	APN	13	46,793,425 (GRCm39)	splice site	probably benign
IGL01927:Cap2	APN	13	46,789,109 (GRCm39)	missense	probably benign	0.03
IGL02213:Cap2	APN	13	46,789,087 (GRCm39)	splice site	probably benign
IGL02511:Cap2	APN	13	46,684,498 (GRCm39)	start codon destroyed	probably null	0.12
IGL02871:Cap2	APN	13	46,678,968 (GRCm39)	missense	probably benign	0.00
R0063:Cap2	UTSW	13	46,791,508 (GRCm39)	splice site	probably benign
R0063:Cap2	UTSW	13	46,791,508 (GRCm39)	splice site	probably benign
R0234:Cap2	UTSW	13	46,791,498 (GRCm39)	critical splice donor site	probably null
R0234:Cap2	UTSW	13	46,791,498 (GRCm39)	critical splice donor site	probably null
R0385:Cap2	UTSW	13	46,714,023 (GRCm39)	missense	probably damaging	1.00
R0712:Cap2	UTSW	13	46,768,837 (GRCm39)	splice site	probably null
R1489:Cap2	UTSW	13	46,763,111 (GRCm39)	missense	probably damaging	1.00
R1666:Cap2	UTSW	13	46,768,799 (GRCm39)	missense	probably damaging	0.98
R1668:Cap2	UTSW	13	46,768,799 (GRCm39)	missense	probably damaging	0.98
R1676:Cap2	UTSW	13	46,791,335 (GRCm39)	missense	probably damaging	1.00
R1756:Cap2	UTSW	13	46,684,489 (GRCm39)	missense	probably benign	0.11
R1822:Cap2	UTSW	13	46,768,823 (GRCm39)	missense	probably benign	0.03
R1867:Cap2	UTSW	13	46,793,555 (GRCm39)	missense	probably damaging	1.00
R1972:Cap2	UTSW	13	46,791,375 (GRCm39)	missense	probably damaging	0.98
R1990:Cap2	UTSW	13	46,791,357 (GRCm39)	missense	possibly damaging	0.93
R1991:Cap2	UTSW	13	46,791,357 (GRCm39)	missense	possibly damaging	0.93
R1992:Cap2	UTSW	13	46,791,357 (GRCm39)	missense	possibly damaging	0.93
R2144:Cap2	UTSW	13	46,713,978 (GRCm39)	critical splice acceptor site	probably null
R3039:Cap2	UTSW	13	46,793,317 (GRCm39)	missense	probably benign	0.20
R4024:Cap2	UTSW	13	46,791,317 (GRCm39)	splice site	probably benign
R4554:Cap2	UTSW	13	46,789,250 (GRCm39)	missense	probably damaging	1.00
R4748:Cap2	UTSW	13	46,793,302 (GRCm39)	missense	possibly damaging	0.64
R4821:Cap2	UTSW	13	46,763,586 (GRCm39)	missense	probably damaging	0.99
R4876:Cap2	UTSW	13	46,684,497 (GRCm39)	start codon destroyed	probably null
R4902:Cap2	UTSW	13	46,684,501 (GRCm39)	missense	probably damaging	0.99
R5320:Cap2	UTSW	13	46,801,840 (GRCm39)	makesense	probably null
R5666:Cap2	UTSW	13	46,684,559 (GRCm39)	splice site	probably null
R5670:Cap2	UTSW	13	46,684,559 (GRCm39)	splice site	probably null
R6086:Cap2	UTSW	13	46,789,188 (GRCm39)	missense	probably damaging	1.00
R6728:Cap2	UTSW	13	46,793,335 (GRCm39)	missense	possibly damaging	0.87
R6842:Cap2	UTSW	13	46,800,101 (GRCm39)	missense	probably damaging	1.00
R7785:Cap2	UTSW	13	46,789,224 (GRCm39)	missense	probably benign
R7889:Cap2	UTSW	13	46,800,051 (GRCm39)	missense	probably damaging	0.99
R8065:Cap2	UTSW	13	46,791,337 (GRCm39)	missense	probably damaging	1.00
R8205:Cap2	UTSW	13	46,768,739 (GRCm39)	missense	probably damaging	1.00
R8425:Cap2	UTSW	13	46,763,208 (GRCm39)	missense	probably damaging	0.98
R8731:Cap2	UTSW	13	46,800,006 (GRCm39)	missense	probably benign	0.00
R8738:Cap2	UTSW	13	46,684,548 (GRCm39)	missense	probably benign	0.00
R9320:Cap2	UTSW	13	46,768,818 (GRCm39)	missense	probably benign	0.04
R9491:Cap2	UTSW	13	46,791,366 (GRCm39)	missense	possibly damaging	0.92
R9686:Cap2	UTSW	13	46,678,926 (GRCm39)	missense	probably damaging	1.00

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