Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Cap2'

194888

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

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

Synonyms

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

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

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46501848-46650281 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46531013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 53 (I53R)

Ref Sequence

ENSEMBL: ENSMUSP00000021802 (fasta)

Gene Model

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

AlphaFold

Q9CYT6

Predicted Effect

probably benign
Transcript: ENSMUST00000021802
AA Change: I53R

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: I53R

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
AA Change: I53R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: I53R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,068,061 (GRCm38)	H382Q	possibly damaging	Het
A330008L17Rik	C	A	8: 99,421,882 (GRCm38)		noncoding transcript	Het
Acin1	A	G	14: 54,665,204 (GRCm38)	V377A	probably benign	Het
Adam39	A	T	8: 40,825,324 (GRCm38)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,127,697 (GRCm38)	*1166K	probably null	Het
Akap12	T	A	10: 4,357,574 (GRCm38)	D1461E	probably benign	Het
Apba1	A	G	19: 23,893,692 (GRCm38)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,393,471 (GRCm38)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,712,392 (GRCm38)	M163I	probably damaging	Het
Ccdc105	T	A	10: 78,747,197 (GRCm38)	K451M	probably damaging	Het
Ccdc74a	T	C	16: 17,650,468 (GRCm38)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,410,788 (GRCm38)	V234A	probably benign	Het
Cd207	C	T	6: 83,675,597 (GRCm38)	V184I	probably benign	Het
Cdk12	C	A	11: 98,241,761 (GRCm38)	C1005*	probably null	Het
Cep83	T	C	10: 94,750,267 (GRCm38)	S344P	probably damaging	Het
Ces1g	A	T	8: 93,306,954 (GRCm38)	Y447N	probably benign	Het
Cfap54	A	T	10: 93,048,061 (GRCm38)	L277Q	probably damaging	Het
Cfh	A	G	1: 140,100,877 (GRCm38)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,415,214 (GRCm38)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,267,109 (GRCm38)	D59G	probably damaging	Het
Colq	G	A	14: 31,547,452 (GRCm38)	P153S	probably damaging	Het
Crybg1	T	A	10: 43,986,279 (GRCm38)	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,617,524 (GRCm38)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,271,605 (GRCm38)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,739,309 (GRCm38)	V306A	probably benign	Het
Diaph1	A	T	18: 37,854,573 (GRCm38)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,086,103 (GRCm38)	D538E	probably damaging	Het
Dnaic2	T	G	11: 114,750,380 (GRCm38)	S344A	probably benign	Het
Dner	C	T	1: 84,445,590 (GRCm38)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,342,695 (GRCm38)		probably null	Het
Eps15	T	G	4: 109,312,918 (GRCm38)	L139*	probably null	Het
Fam193a	T	A	5: 34,466,292 (GRCm38)	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,088,957 (GRCm38)	Y102*	probably null	Het
Gm10509	A	G	17: 21,690,855 (GRCm38)	K30E	possibly damaging	Het
Gm4778	A	T	3: 94,266,218 (GRCm38)	M174L	probably benign	Het
Gm9573	A	T	17: 35,619,239 (GRCm38)		probably benign	Het
Gpr155	T	C	2: 73,367,577 (GRCm38)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,286,123 (GRCm38)		probably benign	Het
Heatr1	G	T	13: 12,396,460 (GRCm38)	A61S	probably benign	Het
Helb	G	T	10: 120,094,242 (GRCm38)	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,599,030 (GRCm38)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,396,120 (GRCm38)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,208,461 (GRCm38)	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,268,669 (GRCm38)	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,437,220 (GRCm38)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 142,229,621 (GRCm38)	K97N	unknown	Het
Lcor	T	C	19: 41,559,266 (GRCm38)	S430P	probably benign	Het
Lpin1	A	G	12: 16,538,540 (GRCm38)	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,110,825 (GRCm38)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 97,034,730 (GRCm38)		probably benign	Het
Man1c1	G	C	4: 134,703,438 (GRCm38)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,306,877 (GRCm38)	V1438M	possibly damaging	Het
Ncbp1	T	A	4: 46,169,131 (GRCm38)	L635*	probably null	Het
Nipbl	T	C	15: 8,338,551 (GRCm38)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,461,534 (GRCm38)	D196G	probably benign	Het
Nupl1	A	T	14: 60,244,670 (GRCm38)		probably benign	Het
Olfr1008	A	G	2: 85,690,083 (GRCm38)	Y218C	probably damaging	Het
Olfr1360	A	G	13: 21,674,695 (GRCm38)	I83T	probably benign	Het
Olfr901	A	T	9: 38,430,995 (GRCm38)	I238F	probably benign	Het
Pax8	A	T	2: 24,435,821 (GRCm38)	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,658,750 (GRCm38)	K298E	probably benign	Het
Pkd1	C	T	17: 24,594,485 (GRCm38)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,810,727 (GRCm38)	V546D	possibly damaging	Het
Plcg2	A	G	8: 117,592,708 (GRCm38)	K673E	probably benign	Het
Pld4	T	G	12: 112,763,392 (GRCm38)		probably null	Het
Plek	A	T	11: 16,992,901 (GRCm38)	N130K	probably damaging	Het
Prune2	G	A	19: 17,123,704 (GRCm38)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,206,803 (GRCm38)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,607,266 (GRCm38)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,910,830 (GRCm38)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,670,881 (GRCm38)	S168P	probably benign	Het
Sec24a	A	G	11: 51,733,763 (GRCm38)		probably benign	Het
Shf	G	A	2: 122,368,682 (GRCm38)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,750,552 (GRCm38)	M574I	probably benign	Het
Slk	T	C	19: 47,622,677 (GRCm38)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,264,971 (GRCm38)	A317S	probably benign	Het
Spz1	T	A	13: 92,575,125 (GRCm38)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,586,980 (GRCm38)	R519S	probably benign	Het
Taf4	T	C	2: 179,976,531 (GRCm38)	H39R	unknown	Het
Tbx5	A	T	5: 119,845,113 (GRCm38)		probably null	Het
Tenm2	C	T	11: 36,063,177 (GRCm38)	G1236R	possibly damaging	Het
Th	G	A	7: 142,898,166 (GRCm38)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,420,179 (GRCm38)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 154,925,322 (GRCm38)	H50L	possibly damaging	Het
Tpp2	T	A	1: 43,978,725 (GRCm38)		probably null	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Trim2	A	G	3: 84,190,800 (GRCm38)	I398T	possibly damaging	Het
Trpc5	A	T	X: 144,481,226 (GRCm38)	S212T	probably damaging	Het
Ttn	A	G	2: 76,787,334 (GRCm38)		probably benign	Het
Unc80	A	G	1: 66,639,248 (GRCm38)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,479,655 (GRCm38)	S260T	probably benign	Het
Vcan	A	G	13: 89,691,681 (GRCm38)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,612,298 (GRCm38)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,626,424 (GRCm38)	T205A	probably benign	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
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'- CTCCAACCAAAGTCCCTGTGAACTATG -3'
(R):5'- CAACAGCCCTGATTCTAGCACTCTC -3'

Sequencing Primer
(F):5'- cattcggtagttccaaatccag -3'
(R):5'- GGGCAGAACTCTCTTGTCTCAC -3'

Posted On

2014-05-23