Mutagenetix > Incidental Mutation

Incidental Mutation 'R7835:Adap2'

605931

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

045889-MU

Accession Numbers

Essential gene?

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

Stock #

R7835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80154105-80178958 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80160231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 129 (V129D)

Ref Sequence

ENSEMBL: ENSMUSP00000021050 (fasta)

Gene Model

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

AlphaFold

Q8R2V5

Predicted Effect

probably benign
Transcript: ENSMUST00000021050
AA Change: V129D

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709
AA Change: V129D

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

probably benign
Transcript: ENSMUST00000134118
AA Change: V129D

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130731
Gene: ENSMUSG00000020709
AA Change: V129D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (48/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 79,099,875 (GRCm38)	S1465T	probably benign	Het
Accsl	T	A	2: 93,865,984 (GRCm38)	K90*	probably null	Het
Adamts3	A	T	5: 89,700,440 (GRCm38)	D674E	possibly damaging	Het
Ank3	A	G	10: 69,987,727 (GRCm38)	D742G		Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
C330021F23Rik	A	G	8: 3,580,452 (GRCm38)		probably benign	Het
Cachd1	G	T	4: 100,974,153 (GRCm38)		probably null	Het
Ccne1	G	T	7: 38,102,845 (GRCm38)	Q133K	probably benign	Het
Cers3	C	T	7: 66,773,639 (GRCm38)	H111Y	possibly damaging	Het
Chst5	A	T	8: 111,890,602 (GRCm38)	L129M	probably damaging	Het
Depdc7	A	G	2: 104,728,185 (GRCm38)	S164P	probably benign	Het
Dnah10	G	A	5: 124,777,234 (GRCm38)	A1966T	probably damaging	Het
Fam208a	G	T	14: 27,476,643 (GRCm38)	G1311C	probably damaging	Het
Fcgbp	T	G	7: 28,117,207 (GRCm38)	S2365A	possibly damaging	Het
Ihh	A	G	1: 74,946,366 (GRCm38)	V320A	probably damaging	Het
Kdm5d	T	C	Y: 900,558 (GRCm38)	V201A	possibly damaging	Het
Kif13b	T	A	14: 64,767,452 (GRCm38)	H1117Q	probably benign	Het
Lcn8	C	A	2: 25,655,296 (GRCm38)		probably null	Het
Lrp4	T	C	2: 91,495,042 (GRCm38)	V1404A	possibly damaging	Het
Lrrc61	A	T	6: 48,568,572 (GRCm38)	T110S	probably benign	Het
Mrpl19	G	A	6: 81,962,126 (GRCm38)	R232C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303 (GRCm38)	G2117A	unknown	Het
Mzt1	T	C	14: 99,046,003 (GRCm38)	T21A	probably benign	Het
Naip6	G	T	13: 100,316,004 (GRCm38)	A183E	probably benign	Het
Neb	T	C	2: 52,150,577 (GRCm38)	D6624G	probably benign	Het
Nup85	A	G	11: 115,570,071 (GRCm38)	D183G	probably benign	Het
Olfm5	A	T	7: 104,154,445 (GRCm38)	Y195*	probably null	Het
Olfr828	T	A	9: 18,815,809 (GRCm38)	M162L	probably benign	Het
Piezo2	A	T	18: 63,082,945 (GRCm38)	F1216I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Polr1a	T	C	6: 71,915,142 (GRCm38)	V135A	probably benign	Het
Ppcdc	A	G	9: 57,420,276 (GRCm38)	S83P	probably benign	Het
Prss21	A	T	17: 23,869,451 (GRCm38)	Q130L	possibly damaging	Het
Rdx	T	A	9: 52,065,788 (GRCm38)	N112K	probably damaging	Het
Rgs22	A	G	15: 36,081,911 (GRCm38)		probably null	Het
Rps26	C	T	10: 128,626,126 (GRCm38)	V40I	probably benign	Het
Runx2	A	T	17: 44,608,236 (GRCm38)	M405K	probably damaging	Het
Serinc2	A	C	4: 130,275,487 (GRCm38)	C4G	unknown	Het
Sh3rf2	C	A	18: 42,111,170 (GRCm38)	R266S	probably benign	Het
Slc38a10	A	G	11: 120,116,996 (GRCm38)	I386T	possibly damaging	Het
Stab2	G	A	10: 86,872,619 (GRCm38)	P1694L	probably benign	Het
Taf4	G	A	2: 179,932,029 (GRCm38)	T682M	probably damaging	Het
Tmem102	A	G	11: 69,804,345 (GRCm38)	V267A	probably damaging	Het
Trim65	A	G	11: 116,130,929 (GRCm38)	L26P	probably damaging	Het
Vmn1r160	T	A	7: 22,871,954 (GRCm38)	M244K	possibly damaging	Het
Vmn1r57	A	T	7: 5,221,139 (GRCm38)	H221L	probably benign	Het
Wdr89	C	A	12: 75,632,899 (GRCm38)	V194F	probably damaging	Het
Wee1	C	A	7: 110,130,878 (GRCm38)	Y396*	probably null	Het
Zfp451	A	T	1: 33,772,979 (GRCm38)	V885D	probably damaging	Het
Zfp981	A	T	4: 146,537,876 (GRCm38)	Q419H	probably benign	Het
Znfx1	A	G	2: 167,039,827 (GRCm38)	Y1081H	probably damaging	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
R0382:Adap2	UTSW	11	80,178,385 (GRCm38)	splice site	probably benign
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
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'- TATCTTGAGACAGCAGCTCCTG -3'
(R):5'- GAAGCTGAGGTCCTTCAAGAC -3'

Sequencing Primer
(F):5'- AGACAGCAGCTCCTGGGTTG -3'
(R):5'- CCAGCCTGGTTTACAAAGTGAGTTC -3'

Posted On

2019-12-20