Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Arap3'

185568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arap3

Ensembl Gene

ENSMUSG00000024451

Gene Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

Synonyms

Centd3, E030006K04Rik, DRAG1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.814) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

38105681-38132022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38124754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 242 (G242D)

Ref Sequence

ENSEMBL: ENSMUSP00000035662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042944]

AlphaFold

Q8R5G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042944
AA Change: G242D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: G242D

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

noncoding transcript
Transcript: ENSMUST00000185063

Coding Region Coverage

Validation Efficiency

MGI Phenotype

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,463 (GRCm39)	L312P	probably damaging	Het
Acap2	A	C	16: 30,946,146 (GRCm39)	W284G	probably damaging	Het
Acsf3	T	C	8: 123,506,986 (GRCm39)	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,614,368 (GRCm39)		probably benign	Het
Asxl3	G	A	18: 22,657,401 (GRCm39)	V1804I	possibly damaging	Het
Bnc1	C	A	7: 81,623,251 (GRCm39)	V659L	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363 (GRCm39)	E103G	probably benign	Het
Chrm4	A	G	2: 91,758,176 (GRCm39)	T195A	probably damaging	Het
Cldn10	T	C	14: 119,092,424 (GRCm39)	I8T	probably damaging	Het
Col12a1	G	A	9: 79,599,654 (GRCm39)	S833F	probably benign	Het
Cryba2	T	A	1: 74,929,720 (GRCm39)	D139V	possibly damaging	Het
Emp1	T	A	6: 135,354,210 (GRCm39)	M1K	probably null	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Exosc4	C	A	15: 76,213,836 (GRCm39)	A220E	probably damaging	Het
Fryl	A	G	5: 73,282,112 (GRCm39)		probably benign	Het
Grid2	C	T	6: 64,040,919 (GRCm39)	T287I	probably benign	Het
Grifin	C	T	5: 140,550,494 (GRCm39)	A7T	probably damaging	Het
Gzmg	T	C	14: 56,394,798 (GRCm39)	K157E	probably benign	Het
Kcnq2	A	T	2: 180,750,819 (GRCm39)	I340N	probably damaging	Het
Klrb1	T	A	6: 128,687,600 (GRCm39)	H98L	probably benign	Het
Krt90	T	C	15: 101,471,088 (GRCm39)	H58R	possibly damaging	Het
Krtap5-2	C	A	7: 141,729,468 (GRCm39)	G71C	unknown	Het
Krtap7-1	A	T	16: 89,305,011 (GRCm39)	M47K	probably benign	Het
Lmntd1	T	A	6: 145,373,002 (GRCm39)		probably null	Het
Ly6g2	A	G	15: 75,093,505 (GRCm39)		probably benign	Het
Musk	A	G	4: 58,286,128 (GRCm39)	N6S	possibly damaging	Het
Or2aj4	A	G	16: 19,385,298 (GRCm39)	C112R	probably damaging	Het
Or51a39	A	G	7: 102,362,808 (GRCm39)	F271L	probably damaging	Het
Or56a42-ps1	A	T	7: 104,776,241 (GRCm39)	F89Y	possibly damaging	Het
Or5p58	T	G	7: 107,694,454 (GRCm39)	T108P	probably benign	Het
Or8c15	T	A	9: 38,120,874 (GRCm39)	I122N	probably damaging	Het
Pcdh19	A	G	X: 132,586,719 (GRCm39)	M432T	probably benign	Het
Prdm1	A	G	10: 44,317,338 (GRCm39)	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,610,403 (GRCm39)	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,754,862 (GRCm39)	G1143V	probably damaging	Het
Rbbp7	A	G	X: 161,552,783 (GRCm39)		probably null	Het
Scel	C	A	14: 103,770,762 (GRCm39)	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,137,463 (GRCm39)		probably benign	Het
Sfswap	C	A	5: 129,637,860 (GRCm39)	T839N	probably benign	Het
Slc15a1	T	C	14: 121,699,911 (GRCm39)	I636V	possibly damaging	Het
Slc15a1	G	T	14: 121,699,886 (GRCm39)	P644H	probably benign	Het
Slc6a21	T	A	7: 44,935,883 (GRCm39)	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,816,913 (GRCm39)	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,665,019 (GRCm39)	L237*	probably null	Het
Trpm7	C	T	2: 126,639,863 (GRCm39)	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,161,012 (GRCm39)	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163 (GRCm39)	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,349,533 (GRCm39)	Y683F	probably benign	Het
Xrra1	T	A	7: 99,563,411 (GRCm39)	L466Q	probably damaging	Het

Other mutations in Arap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Arap3	APN	18	38,108,979 (GRCm39)	missense	probably damaging	1.00
IGL01145:Arap3	APN	18	38,122,232 (GRCm39)	missense	probably benign
IGL01154:Arap3	APN	18	38,129,787 (GRCm39)	missense	probably benign	0.28
IGL01305:Arap3	APN	18	38,124,380 (GRCm39)	critical splice donor site	probably null
IGL01542:Arap3	APN	18	38,123,889 (GRCm39)	missense	probably damaging	0.98
IGL01543:Arap3	APN	18	38,123,889 (GRCm39)	missense	probably damaging	0.98
IGL01544:Arap3	APN	18	38,123,889 (GRCm39)	missense	probably damaging	0.98
IGL01545:Arap3	APN	18	38,123,889 (GRCm39)	missense	probably damaging	0.98
IGL01677:Arap3	APN	18	38,129,700 (GRCm39)	missense	probably benign
IGL01925:Arap3	APN	18	38,117,299 (GRCm39)	missense	probably benign	0.21
IGL01933:Arap3	APN	18	38,111,506 (GRCm39)	missense	possibly damaging	0.65
IGL02048:Arap3	APN	18	38,130,032 (GRCm39)	missense	possibly damaging	0.56
IGL02207:Arap3	APN	18	38,120,906 (GRCm39)	missense	probably benign	0.00
IGL02376:Arap3	APN	18	38,111,506 (GRCm39)	missense	possibly damaging	0.95
IGL02531:Arap3	APN	18	38,122,804 (GRCm39)	missense	probably damaging	0.99
IGL02568:Arap3	APN	18	38,129,711 (GRCm39)	missense	probably benign	0.32
IGL02640:Arap3	APN	18	38,120,855 (GRCm39)	missense	possibly damaging	0.71
IGL02658:Arap3	APN	18	38,124,047 (GRCm39)	missense	probably benign	0.09
IGL03090:Arap3	APN	18	38,122,165 (GRCm39)	missense	probably benign	0.00
IGL03352:Arap3	APN	18	38,114,355 (GRCm39)	splice site	probably benign
ANU22:Arap3	UTSW	18	38,124,380 (GRCm39)	critical splice donor site	probably null
P0016:Arap3	UTSW	18	38,117,401 (GRCm39)	missense	probably benign	0.00
PIT4260001:Arap3	UTSW	18	38,129,948 (GRCm39)	missense	probably benign	0.08
R0066:Arap3	UTSW	18	38,129,760 (GRCm39)	missense	probably benign	0.01
R0324:Arap3	UTSW	18	38,106,278 (GRCm39)	missense	possibly damaging	0.93
R0562:Arap3	UTSW	18	38,108,593 (GRCm39)	missense	probably damaging	1.00
R1289:Arap3	UTSW	18	38,115,026 (GRCm39)	missense	possibly damaging	0.95
R1346:Arap3	UTSW	18	38,108,971 (GRCm39)	missense	probably damaging	1.00
R1419:Arap3	UTSW	18	38,111,485 (GRCm39)	missense	possibly damaging	0.51
R1470:Arap3	UTSW	18	38,122,249 (GRCm39)	critical splice acceptor site	probably null
R1470:Arap3	UTSW	18	38,122,249 (GRCm39)	critical splice acceptor site	probably null
R1537:Arap3	UTSW	18	38,122,737 (GRCm39)	critical splice donor site	probably null
R1644:Arap3	UTSW	18	38,117,298 (GRCm39)	missense	probably damaging	1.00
R1731:Arap3	UTSW	18	38,122,965 (GRCm39)	missense	probably benign	0.01
R1758:Arap3	UTSW	18	38,122,965 (GRCm39)	missense	probably benign	0.01
R1843:Arap3	UTSW	18	38,108,636 (GRCm39)	missense	probably damaging	1.00
R1907:Arap3	UTSW	18	38,129,724 (GRCm39)	missense	probably benign	0.28
R1954:Arap3	UTSW	18	38,115,055 (GRCm39)	missense	probably damaging	1.00
R2124:Arap3	UTSW	18	38,106,403 (GRCm39)	missense	probably damaging	0.98
R2135:Arap3	UTSW	18	38,107,509 (GRCm39)	missense	probably damaging	1.00
R2172:Arap3	UTSW	18	38,123,613 (GRCm39)	missense	probably damaging	1.00
R2418:Arap3	UTSW	18	38,122,997 (GRCm39)	missense	probably damaging	1.00
R2419:Arap3	UTSW	18	38,122,997 (GRCm39)	missense	probably damaging	1.00
R2907:Arap3	UTSW	18	38,123,580 (GRCm39)	missense	possibly damaging	0.88
R4425:Arap3	UTSW	18	38,111,653 (GRCm39)	missense	probably damaging	1.00
R4669:Arap3	UTSW	18	38,129,307 (GRCm39)	missense	probably benign	0.08
R4734:Arap3	UTSW	18	38,129,328 (GRCm39)	missense	probably benign	0.00
R4815:Arap3	UTSW	18	38,106,296 (GRCm39)	missense	probably benign
R5328:Arap3	UTSW	18	38,124,740 (GRCm39)	missense	possibly damaging	0.92
R5350:Arap3	UTSW	18	38,115,088 (GRCm39)	missense	probably damaging	1.00
R5466:Arap3	UTSW	18	38,129,789 (GRCm39)	missense	probably benign	0.00
R5482:Arap3	UTSW	18	38,107,727 (GRCm39)	missense	possibly damaging	0.95
R5572:Arap3	UTSW	18	38,124,119 (GRCm39)	missense	probably damaging	1.00
R5779:Arap3	UTSW	18	38,117,418 (GRCm39)	missense	probably damaging	1.00
R6053:Arap3	UTSW	18	38,123,824 (GRCm39)	missense	probably damaging	0.98
R6144:Arap3	UTSW	18	38,118,486 (GRCm39)	missense	probably damaging	0.98
R6166:Arap3	UTSW	18	38,107,423 (GRCm39)	missense	probably damaging	1.00
R6248:Arap3	UTSW	18	38,124,407 (GRCm39)	missense	probably benign	0.09
R6266:Arap3	UTSW	18	38,123,844 (GRCm39)	missense	probably damaging	0.98
R6385:Arap3	UTSW	18	38,130,084 (GRCm39)	nonsense	probably null
R6694:Arap3	UTSW	18	38,124,590 (GRCm39)	critical splice donor site	probably null
R6856:Arap3	UTSW	18	38,112,916 (GRCm39)	missense	possibly damaging	0.95
R7073:Arap3	UTSW	18	38,107,495 (GRCm39)	nonsense	probably null
R7297:Arap3	UTSW	18	38,106,616 (GRCm39)	missense	possibly damaging	0.81
R7352:Arap3	UTSW	18	38,106,331 (GRCm39)	missense	probably benign	0.00
R7652:Arap3	UTSW	18	38,111,505 (GRCm39)	missense	probably damaging	0.99
R7726:Arap3	UTSW	18	38,122,520 (GRCm39)	missense	probably damaging	0.99
R7747:Arap3	UTSW	18	38,121,941 (GRCm39)	splice site	probably null
R7944:Arap3	UTSW	18	38,122,232 (GRCm39)	missense	probably benign
R8152:Arap3	UTSW	18	38,124,410 (GRCm39)	missense	possibly damaging	0.61
R8338:Arap3	UTSW	18	38,106,683 (GRCm39)	missense	probably damaging	0.99
R8549:Arap3	UTSW	18	38,106,365 (GRCm39)	missense	probably benign	0.17
R8793:Arap3	UTSW	18	38,107,492 (GRCm39)	missense	probably benign	0.04
R8876:Arap3	UTSW	18	38,130,077 (GRCm39)	missense	possibly damaging	0.67
R9142:Arap3	UTSW	18	38,112,934 (GRCm39)	missense	possibly damaging	0.80
R9237:Arap3	UTSW	18	38,112,934 (GRCm39)	missense	possibly damaging	0.80
R9583:Arap3	UTSW	18	38,109,096 (GRCm39)	missense	probably damaging	0.97
R9696:Arap3	UTSW	18	38,112,905 (GRCm39)	missense	probably damaging	1.00
X0011:Arap3	UTSW	18	38,107,154 (GRCm39)	critical splice donor site	probably null
X0026:Arap3	UTSW	18	38,118,364 (GRCm39)	critical splice donor site	probably null
X0027:Arap3	UTSW	18	38,106,538 (GRCm39)	splice site	probably null
X0066:Arap3	UTSW	18	38,124,699 (GRCm39)	missense	probably benign

Posted On

2014-05-07