Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03352:Arap3'

419789

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 #

IGL03352

Quality Score

Status

Chromosome

Chromosomal Location

38105681-38132022 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 38114355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035662 (fasta)

Gene Model

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

AlphaFold

Q8R5G7

Predicted Effect

probably benign
Transcript: ENSMUST00000042944

SMART Domains

Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoah	A	G	13: 21,184,213 (GRCm39)	S426G	probably benign	Het
Arhgap45	T	A	10: 79,866,585 (GRCm39)	N1029K	probably damaging	Het
Arhgef10l	A	T	4: 140,311,242 (GRCm39)	M1K	probably null	Het
Bloc1s6	T	C	2: 122,584,638 (GRCm39)	L71P	probably damaging	Het
Ccer1	G	T	10: 97,529,439 (GRCm39)	R34M	unknown	Het
Cd44	T	C	2: 102,675,759 (GRCm39)		probably benign	Het
Col17a1	T	C	19: 47,669,814 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,117,662 (GRCm39)	E38G	possibly damaging	Het
Dock10	A	T	1: 80,584,013 (GRCm39)		probably benign	Het
Dsg3	A	T	18: 20,660,689 (GRCm39)	M343L	probably benign	Het
Eif3l	G	A	15: 78,961,251 (GRCm39)		probably benign	Het
Fcrl1	T	C	3: 87,292,398 (GRCm39)	L150P	probably benign	Het
Flg2	T	G	3: 93,109,801 (GRCm39)	S610A	unknown	Het
Grin3b	C	T	10: 79,809,615 (GRCm39)	R374C	probably damaging	Het
H2-Oa	A	T	17: 34,313,377 (GRCm39)	I143F	probably damaging	Het
Itgae	C	T	11: 73,022,556 (GRCm39)	P924S	probably damaging	Het
Itpr2	T	A	6: 146,058,602 (GRCm39)	D2521V	probably damaging	Het
Itprid2	T	A	2: 79,475,445 (GRCm39)	M468K	probably damaging	Het
Laptm4a	G	A	12: 8,981,719 (GRCm39)	G143D	probably benign	Het
Lrp6	T	C	6: 134,456,726 (GRCm39)	Y846C	probably damaging	Het
Mcm10	A	T	2: 4,999,407 (GRCm39)	S749T	probably damaging	Het
Nemf	T	C	12: 69,378,679 (GRCm39)	N548D	probably damaging	Het
Nlrp4e	T	A	7: 23,020,251 (GRCm39)	L246Q	probably damaging	Het
Nsun6	A	T	2: 15,001,157 (GRCm39)	C466*	probably null	Het
Olfm2	T	C	9: 20,580,019 (GRCm39)	D252G	probably damaging	Het
Or10j5	A	C	1: 172,784,850 (GRCm39)	M163L	probably benign	Het
Or14j9	T	A	17: 37,874,681 (GRCm39)	I174F	probably damaging	Het
Or2h1	G	A	17: 37,404,311 (GRCm39)	L152F	probably benign	Het
Or9i14	T	C	19: 13,792,292 (GRCm39)	I221V	probably damaging	Het
Pcdhb14	C	T	18: 37,582,057 (GRCm39)	R388C	possibly damaging	Het
Piwil1	C	T	5: 128,828,136 (GRCm39)	T712I	probably benign	Het
Piwil4	G	T	9: 14,637,183 (GRCm39)	T377K	probably damaging	Het
Prg3	T	C	2: 84,823,370 (GRCm39)	F182L	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Retsat	T	C	6: 72,575,666 (GRCm39)	V19A	probably damaging	Het
Rpl21-ps4	A	T	14: 11,227,760 (GRCm38)		noncoding transcript	Het
Sh3glb2	A	G	2: 30,235,363 (GRCm39)	V370A	probably damaging	Het
Skint4	G	T	4: 112,022,883 (GRCm39)	W459C	possibly damaging	Het
Slco1a1	T	A	6: 141,857,611 (GRCm39)	R573S	probably benign	Het
Smgc	T	C	15: 91,744,876 (GRCm39)	S694P	probably damaging	Het
Spaca6	A	G	17: 18,058,401 (GRCm39)	Y7C	probably damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Tepsin	C	T	11: 119,982,703 (GRCm39)	V456I	probably benign	Het
Tex261	C	T	6: 83,748,249 (GRCm39)	R171Q	possibly damaging	Het
Tmem184a	A	T	5: 139,798,755 (GRCm39)	F65I	probably damaging	Het
Tpm3	G	A	3: 89,995,052 (GRCm39)		probably null	Het
Tubgcp2	T	A	7: 139,580,940 (GRCm39)	H671L	probably benign	Het
Unc13b	T	G	4: 43,237,110 (GRCm39)	D3393E	possibly damaging	Het
Vcan	T	A	13: 89,853,125 (GRCm39)	M612L	probably benign	Het
Vmn1r180	C	A	7: 23,652,077 (GRCm39)	S80*	probably null	Het
Vmn1r64	C	T	7: 5,887,070 (GRCm39)	V158I	probably benign	Het
Vps13d	C	T	4: 144,894,072 (GRCm39)	V496I	possibly damaging	Het
Wee2	T	G	6: 40,429,589 (GRCm39)		probably null	Het
Zfp804b	T	C	5: 6,820,039 (GRCm39)	N972S	probably benign	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
IGL02064:Arap3	APN	18	38,124,754 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02