Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02442:Adap2'

293467

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adap2

Ensembl Gene

ENSMUSG00000020709

Gene Name

ArfGAP with dual PH domains 2

Synonyms

Centa2, centaurin alpha 2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02442

Quality Score

Status

Chromosome

Chromosomal Location

80044931-80069784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80068032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 348 (E348G)

Ref Sequence

ENSEMBL: ENSMUSP00000021050 (fasta)

Gene Model

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

AlphaFold

Q8R2V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021050
AA Change: E348G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709
AA Change: E348G

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

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,981,380 (GRCm39)	G888D	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap97d1	T	C	11: 101,881,652 (GRCm39)	V116A	probably benign	Het
Csde1	T	C	3: 102,962,135 (GRCm39)	C649R	probably benign	Het
Cym	A	C	3: 107,121,601 (GRCm39)	D230E	probably damaging	Het
Dnah1	A	T	14: 31,009,835 (GRCm39)	I1911N	probably damaging	Het
Fat1	A	G	8: 45,403,360 (GRCm39)	H37R	probably benign	Het
Ggt6	T	C	11: 72,327,632 (GRCm39)	V146A	possibly damaging	Het
Glud1	T	A	14: 34,057,395 (GRCm39)	L54*	probably null	Het
Grk6	A	G	13: 55,606,750 (GRCm39)		probably benign	Het
Gsta4	G	A	9: 78,116,447 (GRCm39)	V219I	probably benign	Het
Gucy1a2	G	A	9: 3,865,385 (GRCm39)	V620M	probably damaging	Het
Hspe1	T	C	1: 55,128,201 (GRCm39)		probably benign	Het
Icmt	T	C	4: 152,383,173 (GRCm39)	V76A	possibly damaging	Het
Ifrd1	A	G	12: 40,266,316 (GRCm39)		probably benign	Het
Lgals12	T	C	19: 7,584,019 (GRCm39)		probably benign	Het
Lypla1	T	C	1: 4,902,610 (GRCm39)		probably benign	Het
Map1b	A	T	13: 99,644,706 (GRCm39)	W66R	probably damaging	Het
Matn3	T	A	12: 9,017,678 (GRCm39)	C443*	probably null	Het
Mup8	T	A	4: 60,219,695 (GRCm39)	R191W	probably damaging	Het
Mycbp2	T	C	14: 103,551,811 (GRCm39)	K140R	probably benign	Het
Ndfip1	C	T	18: 38,580,789 (GRCm39)	S66L	probably damaging	Het
Neu1	A	G	17: 35,153,445 (GRCm39)	I323V	probably benign	Het
Nup205	A	T	6: 35,167,003 (GRCm39)	T341S	probably benign	Het
Or4f7	G	A	2: 111,644,336 (GRCm39)	T245I	probably benign	Het
Or5b112	T	A	19: 13,319,484 (GRCm39)	C121S	probably benign	Het
Or5b3	T	A	19: 13,388,351 (GRCm39)	N139K	probably benign	Het
Ovch2	T	A	7: 107,395,755 (GRCm39)	I88F	possibly damaging	Het
Pkd1	T	A	17: 24,784,200 (GRCm39)	S249T	probably benign	Het
Plekhg3	A	T	12: 76,625,127 (GRCm39)	Q1324L	probably benign	Het
Ppara	T	A	15: 85,685,344 (GRCm39)	V431E	probably benign	Het
Prkaa1	T	G	15: 5,206,369 (GRCm39)	H408Q	probably damaging	Het
Sap25	T	A	5: 137,640,257 (GRCm39)	N108K	probably benign	Het
Setd5	A	C	6: 113,087,341 (GRCm39)	I81L	possibly damaging	Het
Sinhcaf	A	T	6: 148,830,005 (GRCm39)		probably null	Het
Sri	T	A	5: 8,112,411 (GRCm39)	M78K	probably damaging	Het
Tyro3	A	G	2: 119,639,349 (GRCm39)	N352S	probably benign	Het
Ubr5	T	A	15: 38,038,145 (GRCm39)	E332V	possibly damaging	Het
Vmn2r19	G	T	6: 123,286,621 (GRCm39)	V85F	possibly damaging	Het
Vmn2r53	A	T	7: 12,315,656 (GRCm39)	V721D	probably damaging	Het
Vwa5a	A	G	9: 38,646,080 (GRCm39)	M483V	probably benign	Het
Zfp786	T	A	6: 47,798,301 (GRCm39)	Q212H	probably benign	Het

Other mutations in Adap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02383:Adap2	APN	11	80,051,015 (GRCm39)	missense	probably damaging	1.00
IGL02953:Adap2	APN	11	80,045,126 (GRCm39)	missense	probably damaging	0.99
PIT4283001:Adap2	UTSW	11	80,068,089 (GRCm39)	missense	probably damaging	1.00
R0157:Adap2	UTSW	11	80,056,527 (GRCm39)	missense	probably damaging	1.00
R0382:Adap2	UTSW	11	80,069,211 (GRCm39)	splice site	probably benign
R0499:Adap2	UTSW	11	80,066,905 (GRCm39)	missense	probably damaging	1.00
R0722:Adap2	UTSW	11	80,047,810 (GRCm39)	missense	possibly damaging	0.86
R0828:Adap2	UTSW	11	80,056,490 (GRCm39)	splice site	probably benign
R1938:Adap2	UTSW	11	80,061,508 (GRCm39)	missense	probably damaging	1.00
R2268:Adap2	UTSW	11	80,056,552 (GRCm39)	missense	probably damaging	0.99
R3103:Adap2	UTSW	11	80,047,859 (GRCm39)	missense	probably damaging	1.00
R4621:Adap2	UTSW	11	80,064,899 (GRCm39)	splice site	probably null
R5157:Adap2	UTSW	11	80,047,772 (GRCm39)	missense	probably damaging	1.00
R6326:Adap2	UTSW	11	80,045,848 (GRCm39)	missense	probably damaging	1.00
R6914:Adap2	UTSW	11	80,045,891 (GRCm39)	missense	probably benign	0.01
R6942:Adap2	UTSW	11	80,045,891 (GRCm39)	missense	probably benign	0.01
R7835:Adap2	UTSW	11	80,051,057 (GRCm39)	missense	probably benign	0.11
R8879:Adap2	UTSW	11	80,047,785 (GRCm39)	missense	probably benign	0.02
R9183:Adap2	UTSW	11	80,045,882 (GRCm39)	missense	probably damaging	0.99
R9408:Adap2	UTSW	11	80,045,942 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16