Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02568:Arap3'

298897

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 #

IGL02568

Quality Score

Status

Chromosome

Chromosomal Location

38105681-38132022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38129711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 150 (T150I)

Ref Sequence

ENSEMBL: ENSMUSP00000035662 (fasta)

Gene Model

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

AlphaFold

Q8R5G7

Predicted Effect

probably benign
Transcript: ENSMUST00000042944
AA Change: T150I

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: T150I

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,033,184 (GRCm39)		probably benign	Het
Abcg5	C	T	17: 84,977,827 (GRCm39)	R143Q	probably damaging	Het
Arhgap32	T	C	9: 32,158,490 (GRCm39)	V175A	probably damaging	Het
Bpifb3	A	G	2: 153,766,721 (GRCm39)	E208G	probably benign	Het
C2	T	A	17: 35,083,325 (GRCm39)	D518V	possibly damaging	Het
C6	T	A	15: 4,820,646 (GRCm39)	C552*	probably null	Het
Ccdc38	A	T	10: 93,415,685 (GRCm39)	D447V	probably damaging	Het
Cept1	C	T	3: 106,411,035 (GRCm39)	R386H	probably benign	Het
Comt	A	G	16: 18,230,454 (GRCm39)	V85A	probably damaging	Het
Ddx24	G	T	12: 103,383,571 (GRCm39)	L627I	probably damaging	Het
Efemp1	T	C	11: 28,866,971 (GRCm39)		probably null	Het
Etf1	T	C	18: 35,046,714 (GRCm39)	T99A	possibly damaging	Het
Fhad1	T	C	4: 141,660,105 (GRCm39)	E68G	probably null	Het
Fzd3	C	A	14: 65,473,389 (GRCm39)		probably benign	Het
Gins3	T	C	8: 96,364,606 (GRCm39)	F119L	probably benign	Het
Golga5	G	T	12: 102,438,338 (GRCm39)	V18L	probably benign	Het
Il16	C	A	7: 83,310,484 (GRCm39)	R474M	probably damaging	Het
Itpr1	C	A	6: 108,316,515 (GRCm39)	Q71K	possibly damaging	Het
Kif21b	T	G	1: 136,100,605 (GRCm39)	L1562R	probably damaging	Het
Lamc2	T	C	1: 153,042,008 (GRCm39)	E42G	possibly damaging	Het
Mmp3	T	G	9: 7,446,001 (GRCm39)	L35R	probably benign	Het
Naip6	C	A	13: 100,452,780 (GRCm39)	G94W	probably damaging	Het
Nccrp1	G	A	7: 28,243,905 (GRCm39)	A226V	probably damaging	Het
Nckap5l	A	G	15: 99,323,564 (GRCm39)	Y980H	probably damaging	Het
Ncoa3	T	C	2: 165,911,277 (GRCm39)	S1345P	probably damaging	Het
Nop2	T	C	6: 125,117,813 (GRCm39)	S455P	probably damaging	Het
Nup93	T	C	8: 95,036,263 (GRCm39)	F689S	probably damaging	Het
Or5b112	T	C	19: 13,319,583 (GRCm39)	F154L	probably benign	Het
Plekhm1	T	A	11: 103,285,876 (GRCm39)	E186D	probably damaging	Het
Plxdc1	T	C	11: 97,869,390 (GRCm39)	Q66R	probably damaging	Het
Prkdc	T	G	16: 15,544,406 (GRCm39)	Y1799D	probably damaging	Het
Rasa2	A	G	9: 96,462,563 (GRCm39)	F220L	probably damaging	Het
Rftn1	T	C	17: 50,344,027 (GRCm39)	D87G	probably damaging	Het
Rgs6	C	T	12: 83,117,376 (GRCm39)	T266M	probably benign	Het
Sec16a	A	G	2: 26,326,054 (GRCm39)	Y1208H	probably damaging	Het
Slc12a1	G	T	2: 125,026,648 (GRCm39)	V428L	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Svep1	T	A	4: 58,135,441 (GRCm39)	T556S	probably benign	Het
Tanc2	T	A	11: 105,667,777 (GRCm39)	N119K	probably benign	Het
Tpgs1	T	A	10: 79,505,238 (GRCm39)		probably benign	Het
Tpm3-rs7	A	G	14: 113,552,370 (GRCm39)	E88G	probably damaging	Het
Tsr1	T	C	11: 74,791,204 (GRCm39)	V261A	probably benign	Het
Usp18	C	T	6: 121,238,050 (GRCm39)	T143I	probably benign	Het
Vmn2r24	T	C	6: 123,792,812 (GRCm39)	I713T	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	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
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
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

2015-04-16