Mutagenetix > Incidental Mutation

Incidental Mutation 'R5388:Acap2'

425436

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

042960-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31109725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 475 (C475F)

Ref Sequence

ENSEMBL: ENSMUSP00000154852 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058033
AA Change: C450F

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

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: C450F

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: C468F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230614
AA Change: C468F

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: C475F

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

Meta Mutation Damage Score

0.6736

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,283,727	Q4483R	probably damaging	Het
Abca16	T	C	7: 120,540,746		probably null	Het
Ace	C	A	11: 105,988,458	P603Q	possibly damaging	Het
Adamts20	C	G	15: 94,345,778	V657L	possibly damaging	Het
Antxr2	A	G	5: 97,977,599		probably null	Het
Atp6v1b2	G	A	8: 69,101,437	V89I	probably benign	Het
Cacna1e	G	A	1: 154,477,796	P676L	probably damaging	Het
Camsap3	A	T	8: 3,604,276	I649F	probably damaging	Het
Camta1	G	T	4: 151,075,238	S490R	probably damaging	Het
Celsr1	A	G	15: 85,925,518	I2221T	probably damaging	Het
Cfd	A	T	10: 79,892,125	D164V	probably damaging	Het
Cfdp1	T	C	8: 111,768,752	D278G	probably damaging	Het
Cntn6	A	T	6: 104,832,562	L519F	probably damaging	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Cybrd1	T	C	2: 71,137,645		probably null	Het
Cyp2e1	T	C	7: 140,763,993	L48P	probably damaging	Het
Ep400	G	A	5: 110,701,728	T1409I	unknown	Het
Epp13	T	C	7: 6,266,347		probably null	Het
Exosc7	A	T	9: 123,118,907	D47V	probably damaging	Het
Fgr	T	C	4: 132,995,031	F204L	probably damaging	Het
Gm10100	G	A	10: 77,726,726	V81M	probably benign	Het
Gm12367	T	C	4: 35,235,690		noncoding transcript	Het
Gm15922	T	C	7: 3,738,857	T175A	possibly damaging	Het
Grxcr1	C	A	5: 68,166,195	T272K	probably damaging	Het
Kcna5	C	T	6: 126,534,896	D90N	probably benign	Het
Kdm5b	T	A	1: 134,608,897	Y618*	probably null	Het
Lama5	T	A	2: 180,190,746	H1670L	possibly damaging	Het
Mtus2	C	T	5: 148,306,708	Q113*	probably null	Het
Ncam1	A	C	9: 49,544,754	D521E	probably benign	Het
Nkapl	T	C	13: 21,467,570	H291R	possibly damaging	Het
Nlrp1b	T	G	11: 71,172,141	N695H	probably damaging	Het
Npc1l1	T	A	11: 6,214,733	Q1105H	probably damaging	Het
Paxip1	C	G	5: 27,781,455		probably benign	Het
Pign	A	T	1: 105,655,970	W136R	probably damaging	Het
Pkn3	T	A	2: 30,081,074	S222T	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppfibp1	T	A	6: 146,996,840	I98N	probably damaging	Het
Ppfibp1	T	G	6: 147,016,330	S484A	probably damaging	Het
Ppp1r7	T	C	1: 93,352,590	F127L	probably damaging	Het
Pramel1	T	C	4: 143,397,384	Y210H	probably benign	Het
Rad21l	C	T	2: 151,653,483	V427I	probably benign	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 139,779,850		probably benign	Het
Rnf225	A	G	7: 12,928,005	D37G	probably damaging	Het
Smpd2	A	G	10: 41,487,971		probably null	Het
Tmem38b	C	T	4: 53,859,945	R242W	probably benign	Het
Topaz1	A	T	9: 122,774,093	K1035I	possibly damaging	Het
Trhr	T	C	15: 44,197,477	I131T	possibly damaging	Het
Usp1	A	G	4: 98,931,057	D252G	probably benign	Het
Usp14	C	T	18: 10,018,023	E90K	probably damaging	Het
Yme1l1	T	G	2: 23,162,557	D74E	probably benign	Het
Ythdc2	T	A	18: 44,857,025	L732Q	possibly damaging	Het
Zbbx	G	T	3: 75,083,670	A289D	probably damaging	Het
Zfhx3	G	A	8: 108,946,814	V1499I	possibly damaging	Het
Zfp622	T	C	15: 25,996,199	V184A	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
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
R9762:Acap2	UTSW	16	31110945	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAGCGCCTTGACATTGCTATG -3'
(R):5'- TGCGAATGTATGCACAAAGTG -3'

Sequencing Primer
(F):5'- ATGTCGTCGCTCTGAAGC -3'
(R):5'- CACAAAGTGCAGGTGCCTG -3'

Posted On

2016-08-04