Mutagenetix > Incidental Mutation

Incidental Mutation 'R5578:Acap2'

437318

Institutional Source

Beutler Lab

Gene Symbol

Acap2

Ensembl Gene

ENSMUSG00000049076

Gene Name

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

Synonyms

Centb2, 9530039J15Rik

MMRRC Submission

043133-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R5578 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31108114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 521 (S521P)

Ref Sequence

ENSEMBL: ENSMUSP00000156077 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

probably benign
Transcript: ENSMUST00000058033
AA Change: S503P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: S503P

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
AA Change: S521P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000230614
AA Change: S521P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably benign
Transcript: ENSMUST00000231125
AA Change: S528P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp11	A	G	7: 97,737,458	F177S	probably damaging	Het
Arhgap40	G	T	2: 158,531,206	G128V	probably damaging	Het
Aspm	A	T	1: 139,470,717	K1011I	probably damaging	Het
Cachd1	A	G	4: 100,865,006	T89A	probably benign	Het
Cep89	ACTCCTCCTCCTCCTCCTCCTCCTC	ACTCCTCCTCCTCCTCCTCCTC	7: 35,409,642		probably benign	Het
Cfhr2	A	T	1: 139,831,068	C81*	probably null	Het
Chd7	A	G	4: 8,847,149	T1631A	probably benign	Het
Clca4b	T	A	3: 144,932,435	D22V	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp39a1	T	A	17: 43,680,140	N113K	possibly damaging	Het
Dnah11	A	T	12: 118,018,802	V2544D	probably damaging	Het
Esr1	A	C	10: 4,969,164	Q418P	probably damaging	Het
Fam89a	T	A	8: 124,741,229	K115*	probably null	Het
Fstl4	T	A	11: 53,165,781	V455D	probably damaging	Het
Gm10031	A	G	1: 156,525,230	M334V	probably benign	Het
Gm20730	T	A	6: 43,081,540	M113L	probably benign	Het
Hist2h2ab	T	C	3: 96,220,238	V108A	probably damaging	Het
Hk3	C	T	13: 55,012,181	V327M	probably damaging	Het
Itm2c	T	A	1: 85,903,053	V57E	possibly damaging	Het
Lrba	T	C	3: 86,757,507	Y565H	probably benign	Het
Mab21l1	C	T	3: 55,784,014	Q341*	probably null	Het
Mdm2	C	T	10: 117,702,287	E69K	possibly damaging	Het
Mdn1	A	T	4: 32,728,167	I2709F	probably benign	Het
Mpp7	T	C	18: 7,355,101	N442D	probably benign	Het
Ncoa3	A	G	2: 166,054,328	I384V	probably benign	Het
Pm20d1	A	G	1: 131,816,022	N475S	probably benign	Het
Rhpn2	A	G	7: 35,370,710	D131G	probably damaging	Het
S1pr5	T	A	9: 21,244,551	Y193F	probably damaging	Het
Sdk1	A	T	5: 141,613,125	K182*	probably null	Het
Slx4	T	A	16: 3,986,862	E696V	probably damaging	Het
Smyd4	C	T	11: 75,404,776	P753S	probably benign	Het
Stambp	T	G	6: 83,561,800	D206A	probably benign	Het
Sult5a1	G	T	8: 123,143,121	Y262*	probably null	Het
Taar1	A	T	10: 23,920,820	I139F	possibly damaging	Het
Tchh	A	T	3: 93,444,311	R353*	probably null	Het
Thnsl2	C	T	6: 71,138,765	V153I	probably benign	Het
Trmt5	C	T	12: 73,285,063		probably null	Het
Trpa1	T	A	1: 14,887,008	Y728F	probably damaging	Het
Usp19	T	C	9: 108,493,440	V126A	probably benign	Het
Vcan	A	G	13: 89,691,503	V1974A	probably benign	Het
Vmn2r120	T	A	17: 57,522,514	H461L	probably benign	Het
Wdr63	A	T	3: 146,097,228	Y69*	probably null	Het
Zfp445	T	C	9: 122,853,337	Y513C	probably benign	Het
Zfp84	A	C	7: 29,775,431	M43L	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCACAGAAGGAAATAGGCTTC -3'
(R):5'- CAGGTCTTCTGGTAACTGCTG -3'

Sequencing Primer
(F):5'- AGGCTTCTAGTATTTACAAAACCAC -3'
(R):5'- CTGGTAACTGCTGGGCCATTC -3'

Posted On

2016-10-26