Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02048:Arap3'

184987

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 #

IGL02048

Quality Score

Status

Chromosome

Chromosomal Location

38105681-38132022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38130032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 43 (E43G)

Ref Sequence

ENSEMBL: ENSMUSP00000035662 (fasta)

Gene Model

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

AlphaFold

Q8R5G7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042944
AA Change: E43G

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: E43G

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,069,831 (GRCm39)	D1288N	probably damaging	Het
Abcc1	T	C	16: 14,229,383 (GRCm39)	F372L	probably damaging	Het
Adcy2	G	T	13: 69,036,186 (GRCm39)	N158K	possibly damaging	Het
Apba1	A	G	19: 23,915,000 (GRCm39)		probably null	Het
Bet1	A	T	6: 4,082,456 (GRCm39)		probably null	Het
Blm	A	G	7: 80,152,709 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,681,379 (GRCm39)	I384V	probably benign	Het
Cyp3a13	T	C	5: 137,917,257 (GRCm39)		probably benign	Het
Dlg5	A	T	14: 24,222,271 (GRCm39)	I480N	possibly damaging	Het
Exoc3l4	A	G	12: 111,394,917 (GRCm39)	K538R	probably benign	Het
Flna	G	T	X: 73,272,106 (GRCm39)	T2008K	probably benign	Het
Hc	T	A	2: 34,886,039 (GRCm39)	Q1388L	probably benign	Het
Ifitm1	T	C	7: 140,548,205 (GRCm39)	S13P	probably benign	Het
Il1rapl2	A	G	X: 137,690,398 (GRCm39)	I288V	probably benign	Het
Il31	C	T	5: 123,618,553 (GRCm39)	V157M	possibly damaging	Het
N4bp2l1	A	G	5: 150,500,103 (GRCm39)		probably null	Het
Nell1	T	C	7: 49,869,355 (GRCm39)	I210T	probably damaging	Het
Or52b3	T	C	7: 102,204,090 (GRCm39)	Y200H	probably damaging	Het
Or7e176	T	A	9: 20,171,784 (GRCm39)	I216N	possibly damaging	Het
Phf1	A	G	17: 27,153,515 (GRCm39)		probably benign	Het
Phf10	G	A	17: 15,165,411 (GRCm39)	P482S	probably benign	Het
Ppp6r3	T	G	19: 3,523,848 (GRCm39)	M522L	possibly damaging	Het
Qtrt1	T	C	9: 21,328,651 (GRCm39)	L205P	probably damaging	Het
Vmn2r11	T	C	5: 109,202,658 (GRCm39)	I140V	probably benign	Het
Xylt2	C	T	11: 94,557,171 (GRCm39)	E107K	possibly damaging	Het
Zfp512b	A	T	2: 181,231,715 (GRCm39)	F155Y	possibly damaging	Het
Zfyve27	A	G	19: 42,174,296 (GRCm39)	D314G	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
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
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