Mutagenetix > Incidental Mutation

Incidental Mutation 'R0382:Adap2'

65478

Institutional Source

Beutler Lab

Gene Symbol

Adap2

Ensembl Gene

ENSMUSG00000020709

Gene Name

ArfGAP with dual PH domains 2

Synonyms

centaurin alpha 2, Centa2

MMRRC Submission

038588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0382 (G1)

Quality Score

150

Status

Validated

Chromosome

Chromosomal Location

80154105-80178958 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 80178385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021050]

AlphaFold

Q8R2V5

Predicted Effect

probably benign
Transcript: ENSMUST00000021050

SMART Domains

Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709

Domain	Start	End	E-Value	Type
ArfGap	9	130	1.62e-42	SMART
PH	133	235	4.57e-8	SMART
PH	256	363	2.35e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140556

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,946,919 (GRCm38)	Q266L	probably benign	Het
Abca13	T	C	11: 9,636,650 (GRCm38)		probably benign	Het
Adgrb2	C	G	4: 130,007,831 (GRCm38)	P416R	probably damaging	Het
Brinp1	T	C	4: 68,762,308 (GRCm38)	R662G	possibly damaging	Het
Celsr3	C	A	9: 108,829,218 (GRCm38)	P967T	probably damaging	Het
Ces1b	T	C	8: 93,076,052 (GRCm38)		probably benign	Het
Ckm	T	C	7: 19,421,384 (GRCm38)	*382Q	probably null	Het
Clec14a	A	G	12: 58,268,617 (GRCm38)	V73A	probably damaging	Het
Cmya5	A	T	13: 93,092,748 (GRCm38)	V1944E	probably benign	Het
Col6a6	T	A	9: 105,755,555 (GRCm38)	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,343 (GRCm38)	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672 (GRCm38)	N161S	probably damaging	Het
Dnah17	T	C	11: 118,128,996 (GRCm38)	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,901,769 (GRCm38)	V388A	possibly damaging	Het
Fat3	A	G	9: 15,959,756 (GRCm38)	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,481,060 (GRCm38)	*401R	probably null	Het
Fbxo5	G	T	10: 5,801,176 (GRCm38)	Y270*	probably null	Het
Fnbp1l	A	T	3: 122,570,953 (GRCm38)		probably benign	Het
Fstl3	T	C	10: 79,777,307 (GRCm38)	S3P	probably benign	Het
Gpatch1	T	C	7: 35,301,655 (GRCm38)	D309G	probably damaging	Het
Gstcd	A	T	3: 132,986,408 (GRCm38)	L582H	probably damaging	Het
Klk6	A	G	7: 43,829,245 (GRCm38)	D192G	probably benign	Het
Lrp6	A	G	6: 134,467,668 (GRCm38)	S1080P	probably damaging	Het
Lztfl1	T	C	9: 123,707,906 (GRCm38)		probably null	Het
Mov10l1	A	G	15: 88,985,593 (GRCm38)	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,906,913 (GRCm38)	R62H	probably damaging	Het
Obscn	T	C	11: 59,040,306 (GRCm38)	T5835A	probably damaging	Het
Olfr1052	A	G	2: 86,298,593 (GRCm38)	Y259C	probably damaging	Het
Olfr1183	A	T	2: 88,461,725 (GRCm38)	R147S	possibly damaging	Het
Olfr1354	T	A	10: 78,917,126 (GRCm38)	Y95*	probably null	Het
Olfr792	T	C	10: 129,541,014 (GRCm38)	I159T	probably benign	Het
P2rx2	T	A	5: 110,341,179 (GRCm38)	E289V	probably benign	Het
Patl1	T	A	19: 11,925,232 (GRCm38)		probably null	Het
Ptprf	A	G	4: 118,223,394 (GRCm38)		probably benign	Het
Qrfpr	C	T	3: 36,180,969 (GRCm38)	C253Y	possibly damaging	Het
Rad21l	A	T	2: 151,645,443 (GRCm38)	D540E	probably damaging	Het
Rbm45	T	A	2: 76,370,211 (GRCm38)	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,125,899 (GRCm38)		probably benign	Het
Sgsm3	G	A	15: 81,008,314 (GRCm38)	W280*	probably null	Het
Slc9a9	A	T	9: 94,685,217 (GRCm38)	H113L	probably benign	Het
Slc9b2	G	T	3: 135,318,422 (GRCm38)	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 83,029,534 (GRCm38)		noncoding transcript	Het
Slfn8	T	A	11: 83,004,556 (GRCm38)	I475F	probably damaging	Het
Stox2	A	G	8: 47,203,284 (GRCm38)		probably benign	Het
Strbp	A	T	2: 37,600,826 (GRCm38)	N472K	probably benign	Het
Tcam1	G	A	11: 106,284,078 (GRCm38)	E120K	probably benign	Het
Tmem39a	A	G	16: 38,591,398 (GRCm38)		probably benign	Het
Trpc4ap	A	G	2: 155,636,230 (GRCm38)	L664P	probably damaging	Het
Uap1	T	A	1: 170,161,482 (GRCm38)	M124L	probably benign	Het
Usp48	A	G	4: 137,621,218 (GRCm38)	N536S	probably benign	Het
Usp50	T	A	2: 126,777,928 (GRCm38)	I155F	probably damaging	Het
Utp4	T	C	8: 106,922,935 (GRCm38)	I672T	probably benign	Het
Vmn1r94	A	T	7: 20,167,653 (GRCm38)	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,483,099 (GRCm38)	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,847,597 (GRCm38)	Y395C	probably damaging	Het
Vps41	C	A	13: 18,827,727 (GRCm38)	H335N	probably benign	Het

Other mutations in Adap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02383:Adap2	APN	11	80,160,189 (GRCm38)	missense	probably damaging	1.00
IGL02442:Adap2	APN	11	80,177,206 (GRCm38)	missense	probably damaging	1.00
IGL02953:Adap2	APN	11	80,154,300 (GRCm38)	missense	probably damaging	0.99
PIT4283001:Adap2	UTSW	11	80,177,263 (GRCm38)	missense	probably damaging	1.00
R0157:Adap2	UTSW	11	80,165,701 (GRCm38)	missense	probably damaging	1.00
R0499:Adap2	UTSW	11	80,176,079 (GRCm38)	missense	probably damaging	1.00
R0722:Adap2	UTSW	11	80,156,984 (GRCm38)	missense	possibly damaging	0.86
R0828:Adap2	UTSW	11	80,165,664 (GRCm38)	splice site	probably benign
R1938:Adap2	UTSW	11	80,170,682 (GRCm38)	missense	probably damaging	1.00
R2268:Adap2	UTSW	11	80,165,726 (GRCm38)	missense	probably damaging	0.99
R3103:Adap2	UTSW	11	80,157,033 (GRCm38)	missense	probably damaging	1.00
R4621:Adap2	UTSW	11	80,174,073 (GRCm38)	splice site	probably null
R5157:Adap2	UTSW	11	80,156,946 (GRCm38)	missense	probably damaging	1.00
R6326:Adap2	UTSW	11	80,155,022 (GRCm38)	missense	probably damaging	1.00
R6914:Adap2	UTSW	11	80,155,065 (GRCm38)	missense	probably benign	0.01
R6942:Adap2	UTSW	11	80,155,065 (GRCm38)	missense	probably benign	0.01
R7835:Adap2	UTSW	11	80,160,231 (GRCm38)	missense	probably benign	0.11
R8879:Adap2	UTSW	11	80,156,959 (GRCm38)	missense	probably benign	0.02
R9183:Adap2	UTSW	11	80,155,056 (GRCm38)	missense	probably damaging	0.99
R9408:Adap2	UTSW	11	80,155,116 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAATTGACTGAGCACTCTGAC -3'
(R):5'- CCTCAAGACTGAGGAGAGTTTGCTG -3'

Sequencing Primer
(F):5'- GCTGAATCCCCGAGTCTCTG -3'
(R):5'- GGAGTCGTAGGATCAACCACAC -3'

Posted On

2013-08-08