Mutagenetix > Incidental Mutation

Incidental Mutation 'R9467:Acap2'

715238

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

Accession Numbers

Essential gene?

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

Stock #

R9467 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31111083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 361 (S361P)

Ref Sequence

ENSEMBL: ENSMUSP00000061501 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058033
AA Change: S361P

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: S361P

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: S379P

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000230614
AA Change: S379P

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231125
AA Change: S386P

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	T	1: 105,741,314	T1023I	probably damaging	Het
4933409G03Rik	A	C	2: 68,593,590	M46L		Het
Aars2	A	G	17: 45,516,484	E484G	probably benign	Het
Abcd2	C	T	15: 91,191,622		probably benign	Het
Arap2	T	C	5: 62,730,557	E482G	probably benign	Het
Axin2	G	T	11: 108,942,956	L576F	possibly damaging	Het
B4galt2	T	A	4: 117,880,926	Y161F	probably damaging	Het
Cbwd1	T	A	19: 24,953,320	M122L	possibly damaging	Het
Cdh3	A	T	8: 106,539,793		probably null	Het
Cfap61	A	T	2: 146,129,229	I920F	probably benign	Het
Chaf1b	T	C	16: 93,884,506	I4T	probably benign	Het
Clptm1	T	C	7: 19,637,524	N328S	probably benign	Het
Cthrc1	A	G	15: 39,084,294	N136S	probably benign	Het
Dlec1	G	T	9: 119,142,584	R1279L	probably damaging	Het
Dnah5	A	T	15: 28,366,147	T2669S	possibly damaging	Het
Efcab14	C	A	4: 115,753,011	L190I	probably damaging	Het
Eml6	A	T	11: 29,819,076	C690S	probably damaging	Het
Fignl1	T	C	11: 11,801,483	E524G	probably damaging	Het
Fmo4	A	G	1: 162,803,669	V243A	probably benign	Het
Ghr	A	G	15: 3,328,024	V254A	probably benign	Het
Gm21818	C	T	13: 120,172,525		probably benign	Het
Gm9008	C	T	6: 76,496,632	E334K	probably benign	Het
Igkv8-28	A	G	6: 70,143,707	V84A	probably damaging	Het
Itgb7	T	C	15: 102,223,554	D198G	probably damaging	Het
Klra2	A	G	6: 131,220,107		probably null	Het
Klrc2	A	T	6: 129,656,400	Y230N	probably damaging	Het
Lacc1	A	G	14: 77,029,584	V413A	probably damaging	Het
Muc16	T	C	9: 18,597,035	N6355S	probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTGCTG	11: 62,433,611		probably benign	Het
Ncor1	CTG	CTGGTG	11: 62,433,622		probably benign	Het
Ndn	A	G	7: 62,349,155	K250E	possibly damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nt5e	A	G	9: 88,367,363	E450G	probably benign	Het
Olfr1008	G	T	2: 85,690,282	M284I		Het
Olfr1428	A	T	19: 12,108,949	M199K	possibly damaging	Het
Olfr501-ps1	T	A	7: 108,508,583	*176K	probably null	Het
Palld	A	G	8: 61,515,230	S1343P	unknown	Het
Pcdha8	T	A	18: 36,993,790	S442T	possibly damaging	Het
Pole2	T	C	12: 69,208,945	I349V	probably benign	Het
Ptprb	C	T	10: 116,322,485	T487M	probably benign	Het
Ptprc	C	T	1: 138,066,222	D1020N	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,579,913		probably benign	Het
Ryr2	T	C	13: 11,556,604	N4916S	possibly damaging	Het
Selp	C	T	1: 164,130,105	P268S	probably damaging	Het
Sema7a	T	A	9: 57,957,325	C333S	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	CAGCCACGGGGACCAGCT	CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT	7: 126,467,582		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Shisa5	G	A	9: 109,038,644		probably benign	Het
Snx27	A	G	3: 94,582,416	V45A	possibly damaging	Het
Srcap	T	C	7: 127,540,359	V1284A	probably damaging	Het
Ssrp1	A	G	2: 85,042,266	D416G	probably damaging	Het
Tectb	A	G	19: 55,192,661	Y144C		Het
Thap12	G	T	7: 98,710,141	V76F	probably damaging	Het
Ticam2	G	C	18: 46,560,681	P113R	probably damaging	Het
Tsg101	A	G	7: 46,909,024	Y80H	probably benign	Het
Unc5cl	T	A	17: 48,463,628	M368K	probably damaging	Het
Utp20	G	T	10: 88,804,528	Q717K	possibly damaging	Het
Vmn1r159	T	A	7: 22,842,716	D297V	possibly damaging	Het
Vmn2r98	G	T	17: 19,067,255	S450I	probably benign	Het
Zbtb8b	T	C	4: 129,432,526	E282G	probably benign	Het
Zfp831	T	C	2: 174,644,996	V488A	probably benign	Het
Zzef1	G	A	11: 72,916,425	V2710I	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
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
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
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'- TGCACAAGGTAATGCCCAGG -3'
(R):5'- CATCAATCGAATTGTAAGTGTGTGC -3'

Sequencing Primer
(F):5'- CAAGGTAATGCCCAGGTTGATGC -3'
(R):5'- GTTCATAAAAACCTCAGTGTCTCCCG -3'

Posted On

2022-06-15