Mutagenetix > Incidental Mutations

Incidental Mutation 'R7297:Arap3'

566778

Institutional Source

Beutler Lab

Gene Symbol

Arap3

Ensembl Gene

ENSMUSG00000024451

Gene Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

Synonyms

DRAG1, E030006K04Rik, Centd3

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_139206.2, NM_001205336.1; MGI:2147274

Is this an essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R7297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37972624-37997574 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37973563 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1409 (A1409V)

Ref Sequence

ENSEMBL: ENSMUSP00000035662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042944] [ENSMUST00000043437] [ENSMUST00000163131] [ENSMUST00000164222] [ENSMUST00000166148]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042944
AA Change: A1409V

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: A1409V

Domain	Start	End	E-Value	Type
SAM	1	68	1.5e-7	SMART
low complexity region	81	98	N/A	INTRINSIC
low complexity region	134	142	N/A	INTRINSIC
PH	283	376	3.4e-16	SMART
PH	390	480	1.61e-8	SMART
ArfGap	484	606	1.44e-25	SMART
low complexity region	642	661	N/A	INTRINSIC
PH	671	785	2.86e1	SMART
PH	795	901	6.87e-3	SMART
RhoGAP	913	1089	2.11e-47	SMART
Pfam:RA	1113	1206	6.2e-16	PFAM
PH	1220	1323	3.46e-8	SMART
low complexity region	1388	1407	N/A	INTRINSIC
low complexity region	1457	1469	N/A	INTRINSIC
low complexity region	1475	1486	N/A	INTRINSIC
low complexity region	1494	1529	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043437

SMART Domains

Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524

Domain	Start	End	E-Value	Type
Pfam:FCH	21	100	1.6e-19	PFAM
coiled coil region	188	209	N/A	INTRINSIC
low complexity region	346	357	N/A	INTRINSIC
SH3	469	526	1.34e-8	SMART
SH3	547	606	1.94e-14	SMART
low complexity region	622	634	N/A	INTRINSIC
low complexity region	657	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163131

SMART Domains

Protein: ENSMUSP00000133058
Gene: ENSMUSG00000038524

Domain	Start	End	E-Value	Type
Pfam:FCH	12	107	1.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164222

SMART Domains

Protein: ENSMUSP00000128481
Gene: ENSMUSG00000038524

Domain	Start	End	E-Value	Type
Pfam:FCH	12	56	2.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166148

SMART Domains

Protein: ENSMUSP00000129825
Gene: ENSMUSG00000038524

Domain	Start	End	E-Value	Type
Pfam:FCH	12	93	1.6e-17	PFAM

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

Strain: 5428754
Lethality: E10-E11
FUNCTION: This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(5)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,442,076	D1400G	probably benign	Het
Abca6	C	T	11: 110,183,026		probably null	Het
Adh4	A	G	3: 138,429,140	I358M	possibly damaging	Het
Akap6	T	G	12: 52,887,364	D546E	probably benign	Het
Arhgap22	C	T	14: 33,271,933	R68*	probably null	Het
Arhgef4	A	T	1: 34,807,192	D207V	probably damaging	Het
Asb15	A	G	6: 24,566,463	T472A	probably damaging	Het
Ascl1	A	T	10: 87,492,464	S209T	probably damaging	Het
Asxl1	T	C	2: 153,397,435	V382A	probably benign	Het
Atp11a	T	C	8: 12,806,774		probably null	Het
Calu	C	T	6: 29,356,555	R27*	probably null	Het
Cdh20	A	G	1: 104,970,873	T442A	probably benign	Het
Chrm3	T	A	13: 9,877,833	Q389L	probably benign	Het
Cntnap1	A	G	11: 101,188,634	T1233A	probably benign	Het
Cwc15	G	A	9: 14,510,229	C197Y	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dennd3	C	T	15: 73,557,610	T914I	probably damaging	Het
Dlx3	C	A	11: 95,120,450	Y43*	probably null	Het
Dnah17	A	T	11: 118,055,730		probably null	Het
Dnah17	A	G	11: 118,103,356	F1081S	probably damaging	Het
Dpp10	G	A	1: 123,353,428	Q631*	probably null	Het
Dsel	T	A	1: 111,861,776	D343V	probably damaging	Het
Efcab12	T	C	6: 115,811,036	D655G	possibly damaging	Het
Epha8	T	A	4: 136,945,913	I187L	probably damaging	Het
Exosc10	A	G	4: 148,580,377	K781E	probably damaging	Het
Exosc5	T	C	7: 25,666,326	L200P	probably benign	Het
Faiml	T	C	9: 99,229,613	E131G	probably damaging	Het
Gm13723	A	T	2: 86,873,636	V29E	probably damaging	Het
Gm5145	G	A	17: 20,570,731	V124I	probably benign	Het
Grm7	T	C	6: 110,646,013	V49A	probably benign	Het
Gtf2e1	T	C	16: 37,536,065	D35G	probably damaging	Het
Heatr1	C	T	13: 12,421,060	Q1160*	probably null	Het
Herc2	T	A	7: 56,136,658	C1584S	probably benign	Het
Hsd17b3	T	C	13: 64,076,351	I88V	probably damaging	Het
Hspa14	A	C	2: 3,498,142	L205R	possibly damaging	Het
Ifna11	A	C	4: 88,820,425	E156A	possibly damaging	Het
Krt83	T	C	15: 101,489,647	D170G	probably benign	Het
Mas1	T	C	17: 12,841,858	Y226C	probably damaging	Het
Micall1	T	C	15: 79,120,897	F190L	unknown	Het
Msi2	A	T	11: 88,480,038	L141Q	probably damaging	Het
Nfkbib	T	C	7: 28,766,343	D27G	probably benign	Het
Nlrp9b	A	G	7: 20,049,513	D927G	possibly damaging	Het
Nrg3	T	C	14: 38,370,939	D579G	probably benign	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr26	G	A	9: 38,855,949	D296N	probably damaging	Het
Parp4	C	T	14: 56,647,681	P1406S	not run	Het
Pkib	A	T	10: 57,736,326	Q101L	possibly damaging	Het
Plat	C	T	8: 22,775,697	T252I	probably benign	Het
Ppm1d	A	T	11: 85,345,995	E533D	probably damaging	Het
Psd3	T	C	8: 68,121,034	K165R	probably damaging	Het
Psg29	T	A	7: 17,210,691	Y375*	probably null	Het
Pus7	A	T	5: 23,741,910	I644N	probably damaging	Het
Rbbp9	A	T	2: 144,543,802	M181K	probably benign	Het
Rell1	A	T	5: 63,936,075	N112K	possibly damaging	Het
Simc1	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	13: 54,525,235		probably benign	Het
Skint5	G	A	4: 113,542,934	T1184M	unknown	Het
Slc27a2	T	A	2: 126,578,946	D452E	probably damaging	Het
Slc44a4	T	A	17: 34,927,912	I489N	probably damaging	Het
Slfn14	T	A	11: 83,278,995	K608*	probably null	Het
Snx15	T	A	19: 6,120,507	I301F	probably damaging	Het
Sost	C	T	11: 101,964,103	G127R	probably damaging	Het
Stt3b	A	G	9: 115,276,957	I150T	probably damaging	Het
Susd2	T	C	10: 75,642,568	D58G	probably benign	Het
Tex46	T	G	4: 136,612,901	V99G	probably damaging	Het
Tgfbi	T	A	13: 56,632,113	F492I	possibly damaging	Het
Tmem132c	G	A	5: 127,360,217	A257T	probably benign	Het
Trim2	A	T	3: 84,210,233	I51K	probably damaging	Het
Tsn	A	T	1: 118,300,861	Y210*	probably null	Het
Umodl1	G	A	17: 31,008,665	R1324H	probably benign	Het
Utp3	G	C	5: 88,554,517		probably benign	Het
Vmn1r5	A	T	6: 56,986,219	N293I	possibly damaging	Het
Vmn2r124	A	T	17: 18,073,573	I641F	probably damaging	Het
Vmn2r84	T	C	10: 130,391,250	N240D	probably benign	Het
Wbp1l	A	G	19: 46,654,400	D264G	possibly damaging	Het

Other mutations in Arap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Arap3	APN	18	37975926	missense	probably damaging	1.00
IGL01145:Arap3	APN	18	37989179	missense	probably benign
IGL01154:Arap3	APN	18	37996734	missense	probably benign	0.28
IGL01305:Arap3	APN	18	37991327	critical splice donor site	probably null
IGL01542:Arap3	APN	18	37990836	missense	probably damaging	0.98
IGL01543:Arap3	APN	18	37990836	missense	probably damaging	0.98
IGL01544:Arap3	APN	18	37990836	missense	probably damaging	0.98
IGL01545:Arap3	APN	18	37990836	missense	probably damaging	0.98
IGL01677:Arap3	APN	18	37996647	missense	probably benign
IGL01925:Arap3	APN	18	37984246	missense	probably benign	0.21
IGL01933:Arap3	APN	18	37978453	missense	possibly damaging	0.65
IGL02048:Arap3	APN	18	37996979	missense	possibly damaging	0.56
IGL02064:Arap3	APN	18	37991701	missense	probably damaging	1.00
IGL02207:Arap3	APN	18	37987853	missense	probably benign	0.00
IGL02376:Arap3	APN	18	37978453	missense	possibly damaging	0.95
IGL02531:Arap3	APN	18	37989751	missense	probably damaging	0.99
IGL02568:Arap3	APN	18	37996658	missense	probably benign	0.32
IGL02640:Arap3	APN	18	37987802	missense	possibly damaging	0.71
IGL02658:Arap3	APN	18	37990994	missense	probably benign	0.09
IGL03090:Arap3	APN	18	37989112	missense	probably benign	0.00
IGL03352:Arap3	APN	18	37981302	splice site	probably benign
ANU22:Arap3	UTSW	18	37991327	critical splice donor site	probably null
P0016:Arap3	UTSW	18	37984348	missense	probably benign	0.00
PIT4260001:Arap3	UTSW	18	37996895	missense	probably benign	0.08
R0066:Arap3	UTSW	18	37996707	missense	probably benign	0.01
R0324:Arap3	UTSW	18	37973225	missense	possibly damaging	0.93
R0562:Arap3	UTSW	18	37975540	missense	probably damaging	1.00
R1289:Arap3	UTSW	18	37981973	missense	possibly damaging	0.95
R1346:Arap3	UTSW	18	37975918	missense	probably damaging	1.00
R1419:Arap3	UTSW	18	37978432	missense	possibly damaging	0.51
R1470:Arap3	UTSW	18	37989196	critical splice acceptor site	probably null
R1470:Arap3	UTSW	18	37989196	critical splice acceptor site	probably null
R1537:Arap3	UTSW	18	37989684	critical splice donor site	probably null
R1644:Arap3	UTSW	18	37984245	missense	probably damaging	1.00
R1731:Arap3	UTSW	18	37989912	missense	probably benign	0.01
R1758:Arap3	UTSW	18	37989912	missense	probably benign	0.01
R1843:Arap3	UTSW	18	37975583	missense	probably damaging	1.00
R1907:Arap3	UTSW	18	37996671	missense	probably benign	0.28
R1954:Arap3	UTSW	18	37982002	missense	probably damaging	1.00
R2124:Arap3	UTSW	18	37973350	missense	probably damaging	0.98
R2135:Arap3	UTSW	18	37974456	missense	probably damaging	1.00
R2172:Arap3	UTSW	18	37990560	missense	probably damaging	1.00
R2418:Arap3	UTSW	18	37989944	missense	probably damaging	1.00
R2419:Arap3	UTSW	18	37989944	missense	probably damaging	1.00
R2907:Arap3	UTSW	18	37990527	missense	possibly damaging	0.88
R4425:Arap3	UTSW	18	37978600	missense	probably damaging	1.00
R4669:Arap3	UTSW	18	37996254	missense	probably benign	0.08
R4734:Arap3	UTSW	18	37996275	missense	probably benign	0.00
R4815:Arap3	UTSW	18	37973243	missense	probably benign
R5328:Arap3	UTSW	18	37991687	missense	possibly damaging	0.92
R5350:Arap3	UTSW	18	37982035	missense	probably damaging	1.00
R5466:Arap3	UTSW	18	37996736	missense	probably benign	0.00
R5482:Arap3	UTSW	18	37974674	missense	possibly damaging	0.95
R5572:Arap3	UTSW	18	37991066	missense	probably damaging	1.00
R5779:Arap3	UTSW	18	37984365	missense	probably damaging	1.00
R6053:Arap3	UTSW	18	37990771	missense	probably damaging	0.98
R6144:Arap3	UTSW	18	37985433	missense	probably damaging	0.98
R6166:Arap3	UTSW	18	37974370	missense	probably damaging	1.00
R6248:Arap3	UTSW	18	37991354	missense	probably benign	0.09
R6266:Arap3	UTSW	18	37990791	missense	probably damaging	0.98
R6385:Arap3	UTSW	18	37997031	nonsense	probably null
R6694:Arap3	UTSW	18	37991537	critical splice donor site	probably null
R6856:Arap3	UTSW	18	37979863	missense	possibly damaging	0.95
R7073:Arap3	UTSW	18	37974442	nonsense	probably null
R7352:Arap3	UTSW	18	37973278	missense	probably benign	0.00
R7652:Arap3	UTSW	18	37978452	missense	probably damaging	0.99
R7726:Arap3	UTSW	18	37989467	missense	probably damaging	0.99
R7747:Arap3	UTSW	18	37988888	splice site	probably null
R7944:Arap3	UTSW	18	37989179	missense	probably benign
R8152:Arap3	UTSW	18	37991357	missense	possibly damaging	0.61
R8338:Arap3	UTSW	18	37973630	missense	probably damaging	0.99
R8549:Arap3	UTSW	18	37973312	missense	probably benign	0.17
X0011:Arap3	UTSW	18	37974101	critical splice donor site	probably null
X0026:Arap3	UTSW	18	37985311	critical splice donor site	probably null
X0027:Arap3	UTSW	18	37973485	splice site	probably null
X0066:Arap3	UTSW	18	37991646	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCAGCTGTTCCTCTAGGG -3'
(R):5'- TTTGTAGTGTCTGACTCAAGGAAG -3'

Sequencing Primer
(F):5'- GCCTGAGAACTGCTTTTTGAAG -3'
(R):5'- TCTGACTCAAGGAAGAACGTGACC -3'

Posted On

2019-06-26