Mutagenetix > Incidental Mutations

Incidental Mutation 'R1251:Acap2'

151776

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

039318-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R1251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31108171 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 509 (Y509N)

Ref Sequence

ENSEMBL: ENSMUSP00000154852 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000058033
AA Change: Y484N

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

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: Y484N

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: Y502N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230614
AA Change: Y502N

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: Y509N

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Adcy9	T	A	16: 4,311,531	E497V	probably damaging	Het
Bcat2	T	G	7: 45,575,986	L56R	probably damaging	Het
Ccdc146	T	C	5: 21,293,372	M952V	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cfap46	C	T	7: 139,601,265	V2607I	probably benign	Het
Clec18a	T	C	8: 111,081,638	I54V	possibly damaging	Het
Coil	A	G	11: 88,982,299	E455G	possibly damaging	Het
Copg1	A	T	6: 87,890,007	K75*	probably null	Het
Cyp2j12	G	A	4: 96,115,666	Q238*	probably null	Het
D17Wsu92e	C	T	17: 27,786,070		probably null	Het
Eif3i	T	C	4: 129,593,385	E229G	probably damaging	Het
Exoc2	T	A	13: 30,886,276	N411Y	probably benign	Het
Eya2	T	A	2: 165,754,484	M305K	probably damaging	Het
Faim	C	T	9: 98,992,634	T78M	probably damaging	Het
Fgg	T	A	3: 83,012,980	D355E	probably benign	Het
Foxn1	A	G	11: 78,358,785	L638P	probably damaging	Het
Grid2ip	A	T	5: 143,386,015	E664D	possibly damaging	Het
Il1rn	A	G	2: 24,345,570	R21G	probably damaging	Het
Inpp4b	G	A	8: 81,890,753	G220R	probably benign	Het
Irx6	A	G	8: 92,678,253	S250G	possibly damaging	Het
Lyst	T	C	13: 13,634,483	I246T	probably benign	Het
Mcm3	G	A	1: 20,812,672	Q353*	probably null	Het
Mfhas1	A	G	8: 35,591,053	Y894C	probably damaging	Het
Mfsd13a	T	C	19: 46,372,053	L348P	probably damaging	Het
Necab1	A	G	4: 15,111,192		probably null	Het
Nectin3	A	T	16: 46,463,842	S160T	possibly damaging	Het
Npc2	A	G	12: 84,760,884	S67P	probably damaging	Het
Olfr1036	G	A	2: 86,074,820	V27M	probably benign	Het
Olfr513	T	G	7: 108,754,907	F17C	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Phf21a	G	A	2: 92,359,199	S601N	probably benign	Het
Pold1	C	T	7: 44,535,051	V842I	probably benign	Het
Rabgap1	A	G	2: 37,543,234		probably null	Het
Setd1a	T	A	7: 127,797,424		probably benign	Het
Sgo2a	A	T	1: 57,999,962		probably null	Het
Sult2a8	T	A	7: 14,425,425	K90*	probably null	Het
Tlr2	T	C	3: 83,838,269	D169G	possibly damaging	Het
Tmem95	A	G	11: 69,876,829	F153S	probably benign	Het
Tube1	G	T	10: 39,134,208	G10*	probably null	Het
Vmn2r10	T	C	5: 108,996,024	M687V	probably benign	Het
Zc3h8	G	A	2: 128,935,369	P117S	probably benign	Het
Zeb1	T	A	18: 5,705,089	D18E	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
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

Predicted Primers

PCR Primer
(F):5'- AATACCTGGGGTGTGGACAGATGC -3'
(R):5'- GTCACGGAGTGCCATGTAACTGAG -3'

Sequencing Primer
(F):5'- ACAGATGCTCTGGCATGG -3'
(R):5'- ACAAGAGGGTGTTCAATTCCCTG -3'

Posted On

2014-01-29