Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01330:Acap2'

74478

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: 0.171) question?

Stock #

IGL01330

Quality Score

Status

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31154677 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 43 (I43V)

Ref Sequence

ENSEMBL: ENSMUSP00000154938 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058033
AA Change: I43V

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: I43V

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

possibly damaging
Transcript: ENSMUST00000229010
AA Change: I43V

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230614
AA Change: I43V

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230698
AA Change: I43V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231125
AA Change: I43V

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231868

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,920,951	E245G	possibly damaging	Het
Acot11	T	C	4: 106,771,484	T36A	probably benign	Het
Bsn	A	G	9: 108,110,913		probably benign	Het
Capza2	T	C	6: 17,654,171		probably null	Het
Cerkl	A	G	2: 79,368,781	I155T	possibly damaging	Het
Dclre1b	T	C	3: 103,803,126	T490A	probably benign	Het
Efcab6	G	A	15: 84,044,300	S31L	probably benign	Het
Faim	T	A	9: 98,992,535	M67K	probably damaging	Het
Frem2	T	G	3: 53,655,241	Q615P	possibly damaging	Het
Fut9	A	G	4: 25,619,791	V341A	possibly damaging	Het
Grhpr	T	C	4: 44,986,375	F142L	probably benign	Het
Kif14	T	C	1: 136,476,374	V532A	probably damaging	Het
Klk1b9	T	A	7: 43,978,443	L55*	probably null	Het
Kmt2e	C	A	5: 23,497,948	P1042Q	possibly damaging	Het
Mpped1	T	A	15: 83,800,119	I114N	probably damaging	Het
Mtap	C	A	4: 89,171,223	T148K	probably damaging	Het
Muc16	G	A	9: 18,508,507	A8347V	possibly damaging	Het
Nhs	A	T	X: 161,841,453	S967T	probably damaging	Het
Npas3	A	G	12: 54,048,819	Y344C	probably damaging	Het
Olfr1431	T	C	19: 12,210,040	V158A	possibly damaging	Het
Olfr635	A	T	7: 103,980,142		probably benign	Het
Olfr876	T	A	9: 37,804,220	F103Y	probably damaging	Het
Osmr	A	G	15: 6,842,028	Y303H	probably damaging	Het
Pcdhb8	A	T	18: 37,357,578	I770F	probably benign	Het
Pde4a	C	T	9: 21,192,438		probably benign	Het
Prkacb	T	G	3: 146,751,511	N79T	probably damaging	Het
Psd3	A	C	8: 67,697,178	Y1222D	probably damaging	Het
Rrbp1	T	A	2: 143,968,618	E847D	possibly damaging	Het
Sbno1	A	T	5: 124,391,979	D912E	probably damaging	Het
Sgsm3	T	A	15: 81,010,852		probably benign	Het
Shcbp1	T	C	8: 4,736,372	T577A	probably benign	Het
Siglec1	A	T	2: 131,083,536	V335D	probably damaging	Het
Siglec1	A	T	2: 131,075,005	L1110*	probably null	Het
Slc4a11	A	G	2: 130,687,682	I335T	probably benign	Het
Smchd1	A	C	17: 71,436,788	S461A	probably benign	Het
Spata16	C	T	3: 26,914,715	P415S	probably damaging	Het
Tdrd12	G	A	7: 35,505,034	S217L	possibly damaging	Het
Tmem156	C	T	5: 65,080,182	R45H	probably benign	Het
Vmn2r90	T	C	17: 17,733,280	S569P	probably benign	Het
Vps13c	T	A	9: 67,964,108	V3220E	probably damaging	Het
Wdr59	T	C	8: 111,481,933	N439S	possibly damaging	Het
Zfp568	A	G	7: 30,022,277	M215V	probably benign	Het
Zgrf1	T	A	3: 127,584,007	V967E	probably damaging	Het
Zkscan16	A	G	4: 58,956,483	D255G	possibly damaging	Het

Other mutations in Acap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Acap2	APN	16	31139475	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
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

2013-10-07