Mutagenetix > Incidental Mutation

Incidental Mutation 'R1990:Cap2'

224983

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R1990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46501848-46650281 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46637881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 175 (Y175N)

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: Y287N

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: Y287N

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

possibly damaging
Transcript: ENSMUST00000119341
AA Change: Y175N

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: Y175N

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 benign
Transcript: ENSMUST00000225824
AA Change: Y232N

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0939

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,065,658 (GRCm38)	R203*	probably null	Het
9530053A07Rik	A	T	7: 28,154,360 (GRCm38)	D1583V	probably damaging	Het
Acp6	T	C	3: 97,175,738 (GRCm38)	L355P	probably damaging	Het
Aebp2	T	C	6: 140,633,738 (GRCm38)	S234P	probably damaging	Het
Anapc7	A	G	5: 122,439,504 (GRCm38)	D374G	probably benign	Het
Apob	A	T	12: 8,001,039 (GRCm38)	I1088F	probably damaging	Het
Arid4b	T	C	13: 14,132,436 (GRCm38)	V92A	probably damaging	Het
Armc3	T	C	2: 19,293,142 (GRCm38)	Y575H	probably damaging	Het
Asxl2	G	T	12: 3,484,558 (GRCm38)	G252*	probably null	Het
Atl1	A	T	12: 69,963,328 (GRCm38)	K556M	probably damaging	Het
AU018091	A	G	7: 3,162,264 (GRCm38)	V206A	probably benign	Het
Bcas1	A	T	2: 170,370,477 (GRCm38)	D383E	possibly damaging	Het
Bmx	A	G	X: 164,232,196 (GRCm38)	W257R	probably benign	Het
Bpifb6	T	C	2: 153,905,350 (GRCm38)		probably null	Het
Cacna1b	G	A	2: 24,732,306 (GRCm38)	P222L	probably damaging	Het
Cand1	A	G	10: 119,210,067 (GRCm38)	S978P	probably damaging	Het
Caps2	G	A	10: 112,200,686 (GRCm38)	A384T	probably benign	Het
Catsperg2	A	T	7: 29,721,045 (GRCm38)	Y223*	probably null	Het
Cd81	G	T	7: 143,067,201 (GRCm38)	G206*	probably null	Het
Cd84	A	G	1: 171,872,750 (GRCm38)	T145A	possibly damaging	Het
Cdkn2aip	G	T	8: 47,712,176 (GRCm38)	N167K	probably benign	Het
Ceacam14	T	A	7: 17,815,365 (GRCm38)	L227*	probably null	Het
Ceacam5	A	T	7: 17,757,880 (GRCm38)	D725V	probably damaging	Het
Cldn34a	A	T	X: 152,563,845 (GRCm38)	H171L	probably benign	Het
Col18a1	T	C	10: 77,081,154 (GRCm38)	I114V	unknown	Het
Cp	A	G	3: 19,979,013 (GRCm38)	D667G	probably damaging	Het
Cr2	G	A	1: 195,154,150 (GRCm38)	P1278S	possibly damaging	Het
Crat	A	G	2: 30,405,048 (GRCm38)	Y452H	possibly damaging	Het
Cyp4f13	T	A	17: 32,925,568 (GRCm38)	H318L	probably damaging	Het
Dab1	C	T	4: 104,731,751 (GRCm38)	A524V	probably benign	Het
Dmbt1	A	G	7: 131,058,288 (GRCm38)	N527S	probably damaging	Het
Fgb	G	T	3: 83,044,253 (GRCm38)	Y256*	probably null	Het
Frmd3	T	A	4: 74,187,439 (GRCm38)	S441T	probably damaging	Het
Glp1r	T	A	17: 30,930,748 (GRCm38)	C329S	possibly damaging	Het
Gm13088	T	A	4: 143,654,268 (GRCm38)	Y395F	probably damaging	Het
Gm13757	A	G	2: 88,446,689 (GRCm38)	L83P	probably damaging	Het
Gm14190	G	T	11: 99,690,605 (GRCm38)	Q46K	unknown	Het
Golt1b	T	A	6: 142,392,354 (GRCm38)	F17Y	probably damaging	Het
Gsdmc	A	G	15: 63,801,899 (GRCm38)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,828,237 (GRCm38)	M229L	probably benign	Het
Gulp1	A	C	1: 44,766,114 (GRCm38)	N121T	possibly damaging	Het
Ift122	T	A	6: 115,924,367 (GRCm38)	F1037I	probably damaging	Het
Ildr1	A	T	16: 36,716,206 (GRCm38)	Y199F	probably damaging	Het
Ints2	T	A	11: 86,248,934 (GRCm38)	H278L	possibly damaging	Het
Invs	T	C	4: 48,392,599 (GRCm38)	V271A	possibly damaging	Het
Kcnj2	T	C	11: 111,072,883 (GRCm38)	I367T	probably benign	Het
Kif21b	T	C	1: 136,161,770 (GRCm38)	S1115P	probably damaging	Het
Lce1k	A	T	3: 92,806,818 (GRCm38)	C20S	unknown	Het
Lcmt2	C	A	2: 121,140,281 (GRCm38)	R107L	probably benign	Het
Letm1	A	AG	5: 33,769,515 (GRCm38)		probably null	Het
Lrrc9	A	C	12: 72,497,861 (GRCm38)	R71S	probably damaging	Het
Mcc	C	A	18: 44,491,315 (GRCm38)	E213*	probably null	Het
Mis18bp1	T	C	12: 65,158,694 (GRCm38)	T235A	probably benign	Het
Mta2	C	T	19: 8,942,332 (GRCm38)		probably benign	Het
Nebl	T	A	2: 17,452,510 (GRCm38)	I80F	probably damaging	Het
Nek10	A	G	14: 14,860,764 (GRCm38)	T467A	probably benign	Het
Nexn	A	T	3: 152,252,939 (GRCm38)	F106I	probably damaging	Het
Nrd1	T	A	4: 109,039,775 (GRCm38)	Y282*	probably null	Het
Nxf3	G	A	X: 136,075,834 (GRCm38)	P380S	possibly damaging	Het
Olfr1183	A	G	2: 88,461,342 (GRCm38)	M1V	probably null	Het
Olfr1426	C	A	19: 12,088,256 (GRCm38)	V179F	probably damaging	Het
Olfr403	T	C	11: 74,196,163 (GRCm38)	V220A	probably damaging	Het
Olfr490	C	A	7: 108,286,359 (GRCm38)	G256*	probably null	Het
Olfr495	A	G	7: 108,395,834 (GRCm38)	Y238C	probably benign	Het
Olfr643	A	T	7: 104,059,128 (GRCm38)	I158N	possibly damaging	Het
Olfr685	A	T	7: 105,181,014 (GRCm38)	C115S	probably damaging	Het
Oma1	C	T	4: 103,321,774 (GRCm38)	T208I	probably damaging	Het
Panx2	A	T	15: 89,069,738 (GRCm38)	Y632F	possibly damaging	Het
Pdia4	T	C	6: 47,796,655 (GRCm38)	T587A	probably benign	Het
Piezo2	A	T	18: 63,074,662 (GRCm38)	L1426Q	probably null	Het
Pigk	T	A	3: 152,744,494 (GRCm38)	Y212N	probably damaging	Het
Prl3b1	C	T	13: 27,245,792 (GRCm38)	T71I	possibly damaging	Het
Rab3gap1	A	G	1: 127,942,429 (GRCm38)	E929G	possibly damaging	Het
Rabl3	T	C	16: 37,563,717 (GRCm38)	I162T	probably benign	Het
Rasgrf2	T	A	13: 92,035,965 (GRCm38)	T188S	probably damaging	Het
Slc12a2	A	G	18: 57,910,286 (GRCm38)	I601V	possibly damaging	Het
Slc25a42	A	T	8: 70,191,869 (GRCm38)	I60N	probably benign	Het
Slc2a3	C	T	6: 122,736,735 (GRCm38)	G173S	probably damaging	Het
Slc46a3	G	A	5: 147,886,594 (GRCm38)	T146M	probably damaging	Het
Specc1	C	A	11: 62,029,294 (GRCm38)	P7T	possibly damaging	Het
Sptbn4	T	C	7: 27,423,810 (GRCm38)	D229G	probably benign	Het
Sspo	T	C	6: 48,451,050 (GRCm38)	I154T	probably benign	Het
Stx5a	T	C	19: 8,748,890 (GRCm38)		probably null	Het
Stxbp6	A	T	12: 44,855,857 (GRCm38)	C210*	probably null	Het
Tagap1	C	T	17: 6,956,886 (GRCm38)	R137Q	probably benign	Het
Tbc1d9	A	G	8: 83,271,303 (GRCm38)	Y1163C	probably damaging	Het
Tex14	T	G	11: 87,549,470 (GRCm38)	L1367R	probably damaging	Het
Tnnt3	C	T	7: 142,511,525 (GRCm38)	R131C	possibly damaging	Het
Tpx2	T	A	2: 152,890,624 (GRCm38)	M606K	probably benign	Het
Trim46	A	T	3: 89,237,701 (GRCm38)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,276,322 (GRCm38)	S1485L	probably benign	Het
Txnl1	T	C	18: 63,679,514 (GRCm38)	T70A	probably benign	Het
Unc80	T	C	1: 66,692,549 (GRCm38)	L3053P	probably damaging	Het
Wars	G	T	12: 108,888,433 (GRCm38)	N18K	possibly damaging	Het
Wnt8a	A	G	18: 34,544,884 (GRCm38)	D115G	probably damaging	Het
Xndc1	T	A	7: 102,073,191 (GRCm38)	V21E	probably damaging	Het
Zfp493	T	A	13: 67,786,269 (GRCm38)	C114S	probably 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
R1666:Cap2	UTSW	13	46,615,323 (GRCm38)	missense	probably damaging	0.98
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
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'- TGATTGTACCTACGCTGTGCC -3'
(R):5'- GAGGCGAATCATGTCACAGG -3'

Sequencing Primer
(F):5'- ACGCATGCATAGTGTTCAGC -3'
(R):5'- GGCGAATCATGTCACAGGATTATAC -3'

Posted On

2014-08-25