Mutagenetix > Incidental Mutation

Incidental Mutation 'R0722:Adap2'

63569

Institutional Source

Beutler Lab

Gene Symbol

Adap2

Ensembl Gene

ENSMUSG00000020709

Gene Name

ArfGAP with dual PH domains 2

Synonyms

Centa2, centaurin alpha 2

MMRRC Submission

038904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0722 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

80044931-80069784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80047810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 89 (F89L)

Ref Sequence

ENSEMBL: ENSMUSP00000021050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021050] [ENSMUST00000134118]

AlphaFold

Q8R2V5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021050
AA Change: F89L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709
AA Change: F89L

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

possibly damaging
Transcript: ENSMUST00000134118
AA Change: F89L

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130731
Gene: ENSMUSG00000020709
AA Change: F89L

Domain	Start	End	E-Value	Type
ArfGap	9	130	1.62e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140556

Meta Mutation Damage Score

0.2330

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.7%

Validation Efficiency

97% (63/65)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c13	A	G	13: 4,247,931 (GRCm39)		probably null	Het
Atp10a	A	G	7: 58,465,931 (GRCm39)	I1053V	possibly damaging	Het
Bmper	G	T	9: 23,285,224 (GRCm39)	V258L	probably benign	Het
Brd4	T	C	17: 32,431,956 (GRCm39)	H636R	possibly damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Ccbe1	C	T	18: 66,217,877 (GRCm39)	C112Y	probably damaging	Het
Ccdc28b	T	A	4: 129,514,945 (GRCm39)		probably null	Het
Cd320	T	C	17: 34,065,004 (GRCm39)	S46P	possibly damaging	Het
Cfap251	T	A	5: 123,394,248 (GRCm39)	V379E	probably damaging	Het
Cfap44	G	A	16: 44,225,039 (GRCm39)	E95K	possibly damaging	Het
Clpp	T	C	17: 57,299,901 (GRCm39)	V144A	probably damaging	Het
Crtam	A	T	9: 40,903,912 (GRCm39)	C96S	probably damaging	Het
Dcst1	C	T	3: 89,261,112 (GRCm39)	R480H	probably benign	Het
Dock2	A	T	11: 34,414,970 (GRCm39)		probably benign	Het
Ermard	A	G	17: 15,242,390 (GRCm39)	T189A	probably benign	Het
Gm10840	A	G	11: 106,051,902 (GRCm39)		probably benign	Het
Gm4845	T	A	1: 141,184,598 (GRCm39)		noncoding transcript	Het
Heatr1	A	G	13: 12,420,918 (GRCm39)	E403G	probably benign	Het
Herc4	A	G	10: 63,121,844 (GRCm39)	I399V	probably null	Het
Htr1f	A	G	16: 64,746,254 (GRCm39)	I346T	probably damaging	Het
Igf2r	T	C	17: 12,934,382 (GRCm39)		probably null	Het
Jmy	G	A	13: 93,589,325 (GRCm39)	T644I	probably benign	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Krt13	T	G	11: 100,009,979 (GRCm39)	K297T	probably damaging	Het
Lrba	T	C	3: 86,513,296 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,627,978 (GRCm39)	V108A	possibly damaging	Het
Lrrc8c	T	A	5: 105,727,414 (GRCm39)	V26E	probably damaging	Het
Or10g6	A	G	9: 39,934,295 (GRCm39)	D202G	probably damaging	Het
Or5p6	A	G	7: 107,631,541 (GRCm39)	F3S	probably benign	Het
Pcna	A	G	2: 132,093,155 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,022 (GRCm39)	R348*	probably null	Het
Pikfyve	T	G	1: 65,292,682 (GRCm39)	S1378A	probably damaging	Het
Pkp2	T	C	16: 16,064,892 (GRCm39)	V472A	probably benign	Het
Pld5	A	G	1: 175,803,081 (GRCm39)	F395L	probably benign	Het
Plekhb1	A	T	7: 100,294,810 (GRCm39)	Y169N	probably damaging	Het
Polr2c	T	A	8: 95,589,265 (GRCm39)	Y186N	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prr5l	A	G	2: 101,547,819 (GRCm39)		probably benign	Het
Ptbp2	C	T	3: 119,514,570 (GRCm39)	R419Q	possibly damaging	Het
Ralgapa2	A	G	2: 146,230,451 (GRCm39)	V1038A	probably damaging	Het
Rassf2	A	G	2: 131,844,830 (GRCm39)	V204A	probably damaging	Het
Slc22a22	T	C	15: 57,119,949 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Smc5	C	A	19: 23,186,291 (GRCm39)	L1055F	probably damaging	Het
Spidr	A	G	16: 15,730,645 (GRCm39)	F620S	probably damaging	Het
Susd1	A	G	4: 59,379,749 (GRCm39)	S293P	possibly damaging	Het
Tepsin	A	G	11: 119,986,163 (GRCm39)		probably benign	Het
Vmn2r68	A	T	7: 84,870,794 (GRCm39)	L830I	possibly damaging	Het
Vtn	A	G	11: 78,391,680 (GRCm39)		probably benign	Het
Zfp267	C	T	3: 36,219,218 (GRCm39)	H414Y	probably benign	Het
Zfp280d	T	G	9: 72,219,383 (GRCm39)	S162A	possibly damaging	Het
Zfp608	T	G	18: 55,033,306 (GRCm39)	K409T	probably damaging	Het
Zfp738	A	T	13: 67,819,643 (GRCm39)	M116K	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
IGL02442:Adap2	APN	11	80,068,032 (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
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

Predicted Primers

PCR Primer
(F):5'- TCTGGTGAGATGGCTCCTGAGAAG -3'
(R):5'- ACGCACGCAGCATTTAACACGG -3'

Sequencing Primer
(F):5'- ttttctccatcgccccag -3'
(R):5'- gcttttgccaccacgcc -3'

Posted On

2013-07-30