Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01420:Acap2'

80412

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: 0.156) question?

Stock #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 31101819 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154852 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000058033

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076

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 benign
Transcript: ENSMUST00000229010

Predicted Effect

probably benign
Transcript: ENSMUST00000230614

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably benign
Transcript: ENSMUST00000231125

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,140,133	M457K	probably benign	Het
Actr6	A	T	10: 89,725,165		probably benign	Het
Adamts3	A	T	5: 89,703,057	M541K	possibly damaging	Het
Adgre4	T	C	17: 55,799,785		probably benign	Het
Anxa6	T	C	11: 54,992,363	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,858,280	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,570,338	D261G	probably damaging	Het
Bche	T	C	3: 73,702,009	H28R	probably benign	Het
C2cd3	T	C	7: 100,454,858	V2026A	probably benign	Het
Cacna1d	C	T	14: 30,051,638	V1697I	probably benign	Het
Celsr2	T	C	3: 108,393,763	H2738R	probably benign	Het
Celsr3	A	G	9: 108,841,190		probably null	Het
Cep152	A	T	2: 125,563,652	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,612,940	I248F	probably benign	Het
Clcnka	C	A	4: 141,389,332	R536L	probably benign	Het
Dao	T	A	5: 114,023,820		probably benign	Het
Dnajc10	T	C	2: 80,345,023	S585P	possibly damaging	Het
Dysf	C	T	6: 84,149,759	Q1333*	probably null	Het
Eps8l2	T	A	7: 141,357,663	S397T	probably benign	Het
Fap	A	G	2: 62,504,502		probably benign	Het
Fbf1	T	C	11: 116,145,996	T971A	probably benign	Het
Fbxl17	C	T	17: 63,385,052	V22M	probably damaging	Het
Fundc2	T	C	X: 75,390,865		probably benign	Het
Heyl	C	A	4: 123,240,174	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,872	K30E	probably benign	Het
Igsf10	T	C	3: 59,319,650	I2201V	probably benign	Het
Il34	T	C	8: 110,742,713	K157E	probably damaging	Het
Kcnj13	T	C	1: 87,389,044	T116A	probably damaging	Het
Lpl	T	C	8: 68,887,433		probably benign	Het
Mcm6	A	G	1: 128,345,875	L406P	probably damaging	Het
Mst1	G	A	9: 108,082,828	R328H	probably damaging	Het
Nadk2	T	C	15: 9,102,984	S308P	probably damaging	Het
Nae1	G	T	8: 104,523,165	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,407,587	P1266S	probably damaging	Het
Neb	A	G	2: 52,157,377	Y6485H	probably damaging	Het
Nin	G	A	12: 70,045,414	A707V	probably benign	Het
Nmur1	T	C	1: 86,387,391	T218A	probably benign	Het
Npr3	T	C	15: 11,858,632	N135D	probably damaging	Het
Nup107	A	T	10: 117,785,021	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,141,443	S53T	probably benign	Het
Plxdc2	T	A	2: 16,650,139	V232D	probably damaging	Het
Pou2f2	T	C	7: 25,092,952	N493D	possibly damaging	Het
Rtel1	T	C	2: 181,354,401	I750T	probably benign	Het
Sbk1	A	G	7: 126,292,012		probably null	Het
Sec24d	A	G	3: 123,350,009	N603S	probably benign	Het
Slc38a10	T	A	11: 120,106,460	E736V	probably damaging	Het
Smc6	A	G	12: 11,291,658	Y559C	probably benign	Het
Sprr4	A	T	3: 92,500,384	V37E	unknown	Het
Sptbn2	A	G	19: 4,734,125	T632A	probably benign	Het
Trim31	A	G	17: 36,898,411	M20V	probably benign	Het
Trim65	C	A	11: 116,126,509	V376L	probably damaging	Het
Ttn	T	C	2: 76,712,076	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,702,051	T503A	possibly damaging	Het
Vtn	A	T	11: 78,499,374	I9L	probably benign	Het
Zfp398	A	G	6: 47,865,934	M175V	probably benign	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
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
IGL03342:Acap2	APN	16	31105492	missense	probably damaging	1.00
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

Posted On

2013-11-05