Mutagenetix > Incidental Mutation

Incidental Mutation 'R1666:Cap2'

187221

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

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

Synonyms

MMRRC Submission

039702-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R1666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46501848-46650281 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46615323 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 147 (H147N)

Ref Sequence

ENSEMBL: ENSMUSP00000153125 (fasta)

Gene Model

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

AlphaFold

Q9CYT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021802
AA Change: H202N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: H202N

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

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

noncoding transcript
Transcript: ENSMUST00000225040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225444

Predicted Effect

probably damaging
Transcript: ENSMUST00000225824
AA Change: H147N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

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
5330417C22Rik	A	G	3: 108,469,997 (GRCm38)	S434P	probably benign	Het
Acvrl1	G	A	15: 101,137,577 (GRCm38)	R328H	probably damaging	Het
Afp	T	C	5: 90,505,068 (GRCm38)	S466P	probably damaging	Het
Arhgap45	A	G	10: 80,028,750 (GRCm38)	S879G	possibly damaging	Het
Asic1	A	G	15: 99,699,125 (GRCm38)	D556G	probably damaging	Het
Atp2a3	T	A	11: 72,978,807 (GRCm38)		probably null	Het
Brinp2	C	A	1: 158,246,558 (GRCm38)	E664D	probably damaging	Het
Cd209f	G	A	8: 4,104,862 (GRCm38)	Q79*	probably null	Het
Chrna7	T	C	7: 63,212,142 (GRCm38)	Y54C	possibly damaging	Het
Clec1a	T	C	6: 129,437,004 (GRCm38)	D40G	probably benign	Het
Col11a1	A	G	3: 114,061,535 (GRCm38)	E148G	unknown	Het
Comp	A	T	8: 70,378,957 (GRCm38)		probably null	Het
Cpz	A	G	5: 35,508,116 (GRCm38)		probably null	Het
Cyfip1	T	A	7: 55,871,898 (GRCm38)	N13K	probably damaging	Het
Cyp2c50	A	T	19: 40,091,055 (GRCm38)	M198L	probably benign	Het
Deup1	A	T	9: 15,575,191 (GRCm38)	Y398N	possibly damaging	Het
Epb41l4a	A	G	18: 33,921,909 (GRCm38)	L42P	probably damaging	Het
Exo1	T	C	1: 175,908,486 (GRCm38)	I812T	possibly damaging	Het
Fbxl17	A	T	17: 63,385,065 (GRCm38)		probably null	Het
Fxn	A	G	19: 24,262,013 (GRCm38)	Y172H	probably damaging	Het
Gabra6	A	G	11: 42,317,634 (GRCm38)	S124P	probably damaging	Het
Gje1	C	A	10: 14,716,807 (GRCm38)	W77L	possibly damaging	Het
Glra1	A	G	11: 55,574,399 (GRCm38)	S23P	probably damaging	Het
Gm6614	T	A	6: 141,982,049 (GRCm38)		probably null	Het
Gm6811	T	C	17: 21,094,267 (GRCm38)		noncoding transcript	Het
Greb1l	T	C	18: 10,529,708 (GRCm38)		probably null	Het
Greb1l	T	A	18: 10,501,080 (GRCm38)		probably null	Het
Grm6	A	T	11: 50,859,884 (GRCm38)	I625F	probably damaging	Het
Guca1a	A	G	17: 47,400,242 (GRCm38)	F60L	probably damaging	Het
Hectd1	T	A	12: 51,753,824 (GRCm38)	E2070D	possibly damaging	Het
Itga5	G	A	15: 103,347,902 (GRCm38)	T910I	probably benign	Het
Kctd10	A	G	5: 114,368,990 (GRCm38)	V142A	probably benign	Het
Kif1c	C	T	11: 70,728,397 (GRCm38)	L953F	probably damaging	Het
Lmtk3	A	T	7: 45,794,164 (GRCm38)	D757V	probably benign	Het
Lpcat1	T	C	13: 73,510,123 (GRCm38)		probably null	Het
Lrrc30	A	T	17: 67,632,205 (GRCm38)	C127S	probably benign	Het
Mc4r	A	G	18: 66,859,409 (GRCm38)	L211P	probably damaging	Het
Mettl7a3	A	G	15: 100,335,218 (GRCm38)	I97V	probably benign	Het
Mgat5b	T	A	11: 116,983,648 (GRCm38)	N635K	probably benign	Het
Mms19	A	T	19: 41,952,556 (GRCm38)	M443K	possibly damaging	Het
Mroh5	T	C	15: 73,787,905 (GRCm38)	N359S	probably benign	Het
Nlrc4	G	A	17: 74,445,906 (GRCm38)	T494M	probably damaging	Het
Ntf3	T	C	6: 126,102,438 (GRCm38)	D35G	possibly damaging	Het
Olfr1002	A	T	2: 85,647,813 (GRCm38)	C169*	probably null	Het
Osbpl5	T	C	7: 143,709,039 (GRCm38)	H192R	probably damaging	Het
Parp4	A	T	14: 56,624,163 (GRCm38)	K984N	possibly damaging	Het
Pdgfra	G	A	5: 75,189,020 (GRCm38)	G892D	possibly damaging	Het
Pik3c2g	A	T	6: 139,635,636 (GRCm38)		probably benign	Het
Ppcdc	T	A	9: 57,414,715 (GRCm38)	M181L	possibly damaging	Het
Pramel7	G	A	2: 87,492,403 (GRCm38)	P6S	probably damaging	Het
Prkcz	G	T	4: 155,289,751 (GRCm38)	F69L	probably damaging	Het
Prkd1	G	A	12: 50,394,926 (GRCm38)	H277Y	probably damaging	Het
Ptgs2	A	G	1: 150,101,270 (GRCm38)	Y44C	probably damaging	Het
Rbck1	T	A	2: 152,316,899 (GRCm38)	S488C	probably damaging	Het
Rbl1	T	C	2: 157,159,734 (GRCm38)	Y878C	probably damaging	Het
Rbm6	G	A	9: 107,791,856 (GRCm38)	T619I	probably benign	Het
Rp1	A	G	1: 4,349,863 (GRCm38)	I342T	probably damaging	Het
Rpn2	C	T	2: 157,294,155 (GRCm38)	T161M	possibly damaging	Het
Rufy4	G	A	1: 74,147,678 (GRCm38)	V542I	probably benign	Het
Sema5b	C	T	16: 35,658,482 (GRCm38)	P559S	probably benign	Het
Serpinb3d	A	G	1: 107,080,751 (GRCm38)	V128A	probably benign	Het
Slc35f3	T	A	8: 126,389,221 (GRCm38)	S296T	probably damaging	Het
Smarca2	A	G	19: 26,647,034 (GRCm38)	I365V	possibly damaging	Het
Spdya	T	A	17: 71,578,240 (GRCm38)	C230S	probably damaging	Het
Sv2b	G	A	7: 75,206,341 (GRCm38)	A67V	probably benign	Het
Tapbpl	A	G	6: 125,230,201 (GRCm38)	V175A	probably benign	Het
Ttn	T	C	2: 76,811,751 (GRCm38)	T13373A	probably damaging	Het
Tubb5	A	T	17: 35,836,638 (GRCm38)	N52K	probably benign	Het
Tyr	T	A	7: 87,492,941 (GRCm38)	Y137F	probably damaging	Het
Unc45b	T	A	11: 82,917,739 (GRCm38)	I217N	probably benign	Het
Vmn1r202	A	T	13: 22,501,370 (GRCm38)	D292E	possibly damaging	Het
Vmn1r22	A	G	6: 57,900,719 (GRCm38)	M91T	probably benign	Het
Washc2	T	A	6: 116,223,254 (GRCm38)		probably null	Het
Zfp566	A	T	7: 30,078,476 (GRCm38)	H93Q	probably benign	Het
Zfp740	A	G	15: 102,208,318 (GRCm38)	D56G	probably damaging	Het
Zfp804b	A	C	5: 6,771,323 (GRCm38)	L580R	possibly damaging	Het
Zmiz2	T	G	11: 6,396,836 (GRCm38)	S148R	probably benign	Het
Zmym6	T	A	4: 127,122,859 (GRCm38)	I719N	probably damaging	Het
Zyx	T	A	6: 42,356,032 (GRCm38)	V372E	possibly damaging	Het

Other mutations in Cap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Cap2	APN	13	46,639,949 (GRCm38)	splice site	probably benign
IGL01927:Cap2	APN	13	46,635,633 (GRCm38)	missense	probably benign	0.03
IGL02213:Cap2	APN	13	46,635,611 (GRCm38)	splice site	probably benign
IGL02511:Cap2	APN	13	46,531,022 (GRCm38)	start codon destroyed	probably null	0.12
IGL02871:Cap2	APN	13	46,525,492 (GRCm38)	missense	probably benign	0.00
R0063:Cap2	UTSW	13	46,638,032 (GRCm38)	splice site	probably benign
R0063:Cap2	UTSW	13	46,638,032 (GRCm38)	splice site	probably benign
R0234:Cap2	UTSW	13	46,638,022 (GRCm38)	critical splice donor site	probably null
R0234:Cap2	UTSW	13	46,638,022 (GRCm38)	critical splice donor site	probably null
R0385:Cap2	UTSW	13	46,560,547 (GRCm38)	missense	probably damaging	1.00
R0387:Cap2	UTSW	13	46,560,516 (GRCm38)	missense	probably damaging	0.99
R0712:Cap2	UTSW	13	46,615,361 (GRCm38)	splice site	probably null
R1489:Cap2	UTSW	13	46,609,635 (GRCm38)	missense	probably damaging	1.00
R1668:Cap2	UTSW	13	46,615,323 (GRCm38)	missense	probably damaging	0.98
R1676:Cap2	UTSW	13	46,637,859 (GRCm38)	missense	probably damaging	1.00
R1756:Cap2	UTSW	13	46,531,013 (GRCm38)	missense	probably benign	0.11
R1822:Cap2	UTSW	13	46,615,347 (GRCm38)	missense	probably benign	0.03
R1867:Cap2	UTSW	13	46,640,079 (GRCm38)	missense	probably damaging	1.00
R1972:Cap2	UTSW	13	46,637,899 (GRCm38)	missense	probably damaging	0.98
R1990:Cap2	UTSW	13	46,637,881 (GRCm38)	missense	possibly damaging	0.93
R1991:Cap2	UTSW	13	46,637,881 (GRCm38)	missense	possibly damaging	0.93
R1992:Cap2	UTSW	13	46,637,881 (GRCm38)	missense	possibly damaging	0.93
R2144:Cap2	UTSW	13	46,560,502 (GRCm38)	critical splice acceptor site	probably null
R3039:Cap2	UTSW	13	46,639,841 (GRCm38)	missense	probably benign	0.20
R4024:Cap2	UTSW	13	46,637,841 (GRCm38)	splice site	probably benign
R4554:Cap2	UTSW	13	46,635,774 (GRCm38)	missense	probably damaging	1.00
R4748:Cap2	UTSW	13	46,639,826 (GRCm38)	missense	possibly damaging	0.64
R4821:Cap2	UTSW	13	46,610,110 (GRCm38)	missense	probably damaging	0.99
R4876:Cap2	UTSW	13	46,531,021 (GRCm38)	start codon destroyed	probably null
R4902:Cap2	UTSW	13	46,531,025 (GRCm38)	missense	probably damaging	0.99
R5320:Cap2	UTSW	13	46,648,364 (GRCm38)	makesense	probably null
R5666:Cap2	UTSW	13	46,531,083 (GRCm38)	splice site	probably null
R5670:Cap2	UTSW	13	46,531,083 (GRCm38)	splice site	probably null
R6086:Cap2	UTSW	13	46,635,712 (GRCm38)	missense	probably damaging	1.00
R6728:Cap2	UTSW	13	46,639,859 (GRCm38)	missense	possibly damaging	0.87
R6842:Cap2	UTSW	13	46,646,625 (GRCm38)	missense	probably damaging	1.00
R7785:Cap2	UTSW	13	46,635,748 (GRCm38)	missense	probably benign
R7889:Cap2	UTSW	13	46,646,575 (GRCm38)	missense	probably damaging	0.99
R8065:Cap2	UTSW	13	46,637,861 (GRCm38)	missense	probably damaging	1.00
R8205:Cap2	UTSW	13	46,615,263 (GRCm38)	missense	probably damaging	1.00
R8425:Cap2	UTSW	13	46,609,732 (GRCm38)	missense	probably damaging	0.98
R8731:Cap2	UTSW	13	46,646,530 (GRCm38)	missense	probably benign	0.00
R8738:Cap2	UTSW	13	46,531,072 (GRCm38)	missense	probably benign	0.00
R9320:Cap2	UTSW	13	46,615,342 (GRCm38)	missense	probably benign	0.04
R9491:Cap2	UTSW	13	46,637,890 (GRCm38)	missense	possibly damaging	0.92
R9686:Cap2	UTSW	13	46,525,450 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTAGGTATGGCACACTCCCTC -3'
(R):5'- GGCGGTCAACAGAGTCTCCTAAAG -3'

Sequencing Primer
(F):5'- AGGGTTACCCACATTCTCAGTG -3'
(R):5'- TCCTAAAGGAAAGGCTGTTTCCAC -3'

Posted On

2014-05-09