Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02173:Acap2'

282987

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

Essential gene?

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

Stock #

IGL02173

Quality Score

Status

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31108147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 510 (R510G)

Ref Sequence

ENSEMBL: ENSMUSP00000154983 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058033
AA Change: R492G

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: R492G

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: R510G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230614
AA Change: R510G

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably benign
Transcript: ENSMUST00000231125
AA Change: R517G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,225,892	H68L	possibly damaging	Het
4930533K18Rik	A	G	10: 70,872,230		noncoding transcript	Het
4933409G03Rik	A	G	2: 68,613,057	T182A	unknown	Het
Abca2	T	A	2: 25,441,897	D1340E	probably benign	Het
Abcc12	G	A	8: 86,566,442	A39V	probably damaging	Het
Ace	G	T	11: 105,988,991	R719L	probably benign	Het
Adarb1	A	C	10: 77,321,825	F263V	probably damaging	Het
Ambra1	T	C	2: 91,917,668	S1130P	probably benign	Het
Aqp7	A	T	4: 41,034,379	L260*	probably null	Het
Cntn5	G	T	9: 9,748,396	S493R	probably damaging	Het
Crhr2	A	G	6: 55,103,180	F138S	probably damaging	Het
D2hgdh	T	A	1: 93,829,889	D175E	probably benign	Het
Dtx4	G	T	19: 12,473,257	Y530*	probably null	Het
Elp4	T	A	2: 105,702,743	H419L	probably damaging	Het
Etv6	A	G	6: 134,248,727	D218G	possibly damaging	Het
Exoc5	A	G	14: 49,034,801		probably benign	Het
Fyb	C	T	15: 6,580,695	P250S	probably benign	Het
Gaa	A	G	11: 119,274,913	Y84C	probably damaging	Het
Galns	A	T	8: 122,598,626	S262R	probably damaging	Het
Gm4737	T	C	16: 46,154,078	N312S	probably benign	Het
Kctd16	T	C	18: 40,530,853	I345T	probably benign	Het
Lats2	A	G	14: 57,697,260	V671A	probably damaging	Het
Maml3	C	A	3: 51,690,787	L179F	probably damaging	Het
Myo1f	T	C	17: 33,607,344	L1089P	probably damaging	Het
Nadsyn1	A	T	7: 143,804,006		probably benign	Het
Olfr1502	A	G	19: 13,862,014	T74A	probably benign	Het
Olfr39	T	C	9: 20,286,395	V240A	probably benign	Het
Olfr394	A	G	11: 73,888,123	M83T	possibly damaging	Het
Olfr639	G	A	7: 104,011,830	P291S	probably damaging	Het
Otog	T	C	7: 46,276,741		probably benign	Het
Pcbd1	A	G	10: 61,092,204		probably benign	Het
Pced1a	A	G	2: 130,422,328	V164A	possibly damaging	Het
Pgd	A	G	4: 149,156,753	I233T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sec24d	A	T	3: 123,353,681	H733L	probably damaging	Het
Slc1a2	T	A	2: 102,743,861	N205K	probably benign	Het
Sstr2	G	T	11: 113,625,016	V254L	probably damaging	Het
Tm9sf2	G	T	14: 122,143,423	V308F	probably benign	Het
Tor3a	T	C	1: 156,674,206	K34E	probably benign	Het
Tsta3	A	G	15: 75,926,185	S233P	probably damaging	Het
Ubr4	T	A	4: 139,437,070		probably null	Het
Vmn1r56	A	G	7: 5,196,118	S167P	probably damaging	Het
Zswim3	T	A	2: 164,820,839	I413N	probably 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
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
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

Posted On

2015-04-16