Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Arap3'

528517

Institutional Source

Beutler Lab

Gene Symbol

Arap3

Ensembl Gene

ENSMUSG00000024451

Gene Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

Synonyms

Centd3, E030006K04Rik, DRAG1

MMRRC Submission

044812-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.814) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38105681-38132022 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 38124590 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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185063

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	G	A	6: 48,907,480 (GRCm39)	S160N	probably benign	Het
Arhgap10	A	G	8: 78,137,692 (GRCm39)	F300L	probably benign	Het
Ccdc116	T	C	16: 16,960,655 (GRCm39)	E54G	probably benign	Het
Cd53	T	A	3: 106,674,702 (GRCm39)	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,454,849 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,490,104 (GRCm39)	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,150,617 (GRCm39)		probably null	Het
Exoc1	T	A	5: 76,697,399 (GRCm39)	M392K	probably damaging	Het
Exoc3l	G	C	8: 106,017,122 (GRCm39)	R622G	probably benign	Het
Grid2	C	G	6: 63,908,031 (GRCm39)	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,758,579 (GRCm39)	E16G	probably damaging	Het
Kit	T	C	5: 75,801,417 (GRCm39)	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,580,456 (GRCm39)	S257G	probably benign	Het
Med18	C	T	4: 132,187,293 (GRCm39)	V114I	probably benign	Het
Mrps30	C	T	13: 118,523,497 (GRCm39)	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,712,452 (GRCm39)	V645I	probably benign	Het
Nuak2	T	G	1: 132,260,048 (GRCm39)	S609A	probably damaging	Het
Or2y1g	A	T	11: 49,171,379 (GRCm39)	I135F	probably benign	Het
Plk4	T	C	3: 40,756,263 (GRCm39)	V58A	probably damaging	Het
Polq	T	A	16: 36,835,535 (GRCm39)	F145L	probably null	Het
Rab11fip2	T	C	19: 59,925,707 (GRCm39)	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,657,865 (GRCm39)	V246A	probably benign	Het
Rc3h2	A	G	2: 37,290,555 (GRCm39)	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Sae1	G	T	7: 16,102,461 (GRCm39)	A171E	probably damaging	Het
Semp2l2b	T	C	10: 21,943,620 (GRCm39)	E120G	probably damaging	Het
Setd5	T	A	6: 113,120,669 (GRCm39)	N959K	probably benign	Het
Siae	T	A	9: 37,528,119 (GRCm39)	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311 (GRCm39)	G51D	probably damaging	Het
Slc5a11	A	G	7: 122,867,012 (GRCm39)	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,264,447 (GRCm39)	S470P	probably damaging	Het
Timd2	A	T	11: 46,561,779 (GRCm39)	C288*	probably null	Het
Timeless	T	G	10: 128,075,868 (GRCm39)		probably null	Het
Ubxn8	G	T	8: 34,111,572 (GRCm39)	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,965,276 (GRCm39)	E373G	probably benign	Het
Zap70	A	G	1: 36,821,598 (GRCm39)	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,419,446 (GRCm39)	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,634,559 (GRCm39)	A383V	probably damaging	Het
Zfp93	A	T	7: 23,975,338 (GRCm39)	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,263,610 (GRCm39)	Y76N	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGCACAAAACGTCTCTGG -3'
(R):5'- TTACTGAGAGACTGTGGAGGGC -3'

Sequencing Primer
(F):5'- ACGTCTCTGGAACACATAGTTTCTG -3'
(R):5'- TAATGCTCAGCAGACAGGATC -3'

Posted On

2018-07-24