Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Acap2'

417253

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acap2

Ensembl Gene

ENSMUSG00000049076

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 2

Synonyms

Centb2, 9530039J15Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31105492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 641 (V641A)

Ref Sequence

ENSEMBL: ENSMUSP00000154983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058033] [ENSMUST00000229010] [ENSMUST00000230614] [ENSMUST00000230698] [ENSMUST00000231125]

AlphaFold

Q6ZQK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058033
AA Change: V623A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: V623A

Domain	Start	End	E-Value	Type
Pfam:BAR_3	5	238	9.1e-96	PFAM
PH	267	363	1.73e-17	SMART
ArfGap	399	520	2.23e-63	SMART
ANK	632	661	6.71e-2	SMART
ANK	665	694	3.04e0	SMART
ANK	698	727	6.64e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000229010
AA Change: V676A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230614
AA Change: V641A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably damaging
Transcript: ENSMUST00000231125
AA Change: V648A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,287,691	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,665,135	R136I	probably damaging	Het
Afg3l2	A	T	18: 67,407,320	D706E	probably benign	Het
Bbs1	A	T	19: 4,897,593	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,466,944		probably null	Het
Car2	A	T	3: 14,895,569	D129V	probably benign	Het
Catsper2	T	C	2: 121,406,736	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,051,055	R452M	probably benign	Het
Chrm1	A	T	19: 8,679,308	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264		probably benign	Het
Coa7	A	G	4: 108,332,229	D42G	probably damaging	Het
Ctsz	T	C	2: 174,429,140	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,810,407	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,855,117	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,697,936	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,409,460	M1008K	probably benign	Het
Dsg4	T	A	18: 20,451,823	I198N	probably damaging	Het
Dtymk	C	A	1: 93,794,819	E87D	probably benign	Het
Dysf	T	A	6: 84,190,872	D1749E	probably benign	Het
Dzip3	G	T	16: 48,929,623	Q1050K	probably damaging	Het
Echs1	C	T	7: 140,110,113		probably benign	Het
Enc1	T	A	13: 97,246,470	I496N	possibly damaging	Het
Epc2	A	T	2: 49,536,646	Y139F	probably benign	Het
Exo1	A	T	1: 175,892,127	N246I	probably benign	Het
Flg2	A	G	3: 93,201,235	K190R	probably damaging	Het
Gm5424	A	T	10: 62,072,192		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,574,543	T133P	probably benign	Het
Gpr155	A	G	2: 73,349,678	F146S	probably damaging	Het
Grm1	T	A	10: 11,079,971	I190L	probably benign	Het
Hif3a	C	T	7: 17,041,122	R515H	possibly damaging	Het
Kdm5b	G	A	1: 134,602,576	D442N	probably benign	Het
Manba	A	T	3: 135,517,987	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,892,231	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,491,390	L163P	probably damaging	Het
Med1	A	T	11: 98,189,180		probably null	Het
Mtrf1	C	T	14: 79,415,871		probably benign	Het
Mtrf1	T	A	14: 79,415,872		probably null	Het
Mtrf1	A	G	14: 79,415,980	D365G	possibly damaging	Het
Myadm	C	T	7: 3,296,887	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,133,262	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,445,318	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,122,791	D544E	probably benign	Het
Nlrp2	A	T	7: 5,317,483	L20Q	probably damaging	Het
Olfr1053	A	T	2: 86,315,235	I17N	possibly damaging	Het
Olfr1504	A	G	19: 13,887,437	Y258H	probably damaging	Het
Olfr390	T	A	11: 73,787,483	S182T	probably benign	Het
Padi3	G	A	4: 140,810,598	Q4*	probably null	Het
Pfkl	A	T	10: 78,005,475	I13K	possibly damaging	Het
Pinx1	A	G	14: 63,919,569	D315G	probably benign	Het
Prickle3	A	G	X: 7,663,496	D47G	probably benign	Het
Psmd10	A	T	X: 140,956,654	V5E	probably damaging	Het
Rasgrf2	C	A	13: 91,987,979	V605F	probably damaging	Het
Smarca1	G	T	X: 47,892,269	A84D	probably damaging	Het
Sp2	A	G	11: 96,961,762	V112A	probably damaging	Het
Srgap3	G	A	6: 112,775,687	R279C	probably damaging	Het
Ssfa2	G	A	2: 79,660,452	M971I	probably damaging	Het
Trav21-dv12	T	C	14: 53,876,044	L10P	unknown	Het
Vmn1r236	A	T	17: 21,286,974	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,509,372	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,427,916	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,138,683	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,524,223	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,215,471	G130*	probably null	Het

Other mutations in Acap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Acap2	APN	16	31139475	missense	probably damaging	1.00
IGL01330:Acap2	APN	16	31154677	missense	probably damaging	1.00
IGL01420:Acap2	APN	16	31101819	splice site	probably benign
IGL02064:Acap2	APN	16	31127328	missense	probably damaging	1.00
IGL02173:Acap2	APN	16	31108147	missense	possibly damaging	0.68
IGL02453:Acap2	APN	16	31131257	splice site	probably null
IGL02883:Acap2	APN	16	31096345	unclassified	probably benign
IGL03203:Acap2	APN	16	31096345	unclassified	probably benign
R1251:Acap2	UTSW	16	31108171	missense	probably damaging	1.00
R1377:Acap2	UTSW	16	31116051	missense	probably damaging	1.00
R1432:Acap2	UTSW	16	31111083	missense	probably damaging	1.00
R1546:Acap2	UTSW	16	31104936	nonsense	probably null
R1594:Acap2	UTSW	16	31127387	missense	probably benign	0.01
R1829:Acap2	UTSW	16	31110934	missense	probably damaging	1.00
R1853:Acap2	UTSW	16	31117304	missense	probably damaging	1.00
R1970:Acap2	UTSW	16	31133527	critical splice donor site	probably null
R2023:Acap2	UTSW	16	31119415	missense	probably damaging	0.99
R2086:Acap2	UTSW	16	31110945	missense	probably damaging	1.00
R2145:Acap2	UTSW	16	31105524	missense	probably benign
R2177:Acap2	UTSW	16	31133528	critical splice donor site	probably null
R2214:Acap2	UTSW	16	31108128	missense	probably benign	0.19
R2392:Acap2	UTSW	16	31139640	missense	probably damaging	0.99
R2438:Acap2	UTSW	16	31117315	missense	probably damaging	1.00
R2913:Acap2	UTSW	16	31116069	missense	probably damaging	0.99
R4207:Acap2	UTSW	16	31119427	missense	probably damaging	0.99
R4274:Acap2	UTSW	16	31108114	missense	probably benign	0.01
R4814:Acap2	UTSW	16	31108126	missense	probably benign
R4860:Acap2	UTSW	16	31103499	missense	possibly damaging	0.92
R4860:Acap2	UTSW	16	31103499	missense	possibly damaging	0.92
R5310:Acap2	UTSW	16	31133609	missense	probably benign	0.00
R5345:Acap2	UTSW	16	31108126	missense	probably benign
R5388:Acap2	UTSW	16	31109725	missense	probably damaging	1.00
R5551:Acap2	UTSW	16	31104908	missense	probably damaging	1.00
R5578:Acap2	UTSW	16	31108114	missense	probably benign	0.00
R6341:Acap2	UTSW	16	31105546	missense	possibly damaging	0.86
R6659:Acap2	UTSW	16	31131315	missense	probably damaging	0.99
R6977:Acap2	UTSW	16	31117261	missense	probably damaging	1.00
R7262:Acap2	UTSW	16	31127319	critical splice donor site	probably null
R7304:Acap2	UTSW	16	31108116	missense	probably benign	0.05
R7310:Acap2	UTSW	16	31108154	nonsense	probably null
R7318:Acap2	UTSW	16	31127337	missense	probably damaging	1.00
R7514:Acap2	UTSW	16	31154567	splice site	probably null
R7875:Acap2	UTSW	16	31139641	missense	probably damaging	0.99
R8256:Acap2	UTSW	16	31139469	critical splice donor site	probably null
R9026:Acap2	UTSW	16	31107088	missense	probably damaging	0.99
R9177:Acap2	UTSW	16	31136574	missense	probably damaging	1.00
R9252:Acap2	UTSW	16	31101823	critical splice donor site	probably null
R9268:Acap2	UTSW	16	31136574	missense	probably damaging	1.00
R9329:Acap2	UTSW	16	31127420	missense	probably damaging	1.00
R9467:Acap2	UTSW	16	31111083	missense	possibly damaging	0.54
R9528:Acap2	UTSW	16	31111090	missense	possibly damaging	0.75

Posted On

2016-08-02