Mutagenetix > Incidental Mutation

Incidental Mutation 'R5156:Arap2'

396721

Institutional Source

Beutler Lab

Gene Symbol

Arap2

Ensembl Gene

ENSMUSG00000037999

Gene Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2

Synonyms

Centd1

MMRRC Submission

042738-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62759788-62923502 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 62826524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1013 (Y1013*)

Ref Sequence

ENSEMBL: ENSMUSP00000075924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076623]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000076623
AA Change: Y1013*

SMART Domains

Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999
AA Change: Y1013*

Domain	Start	End	E-Value	Type
SAM	3	70	3.69e-7	SMART
low complexity region	222	233	N/A	INTRINSIC
PH	481	574	6.45e-17	SMART
PH	586	679	9.05e-12	SMART
ArfGap	684	805	9.2e-33	SMART
PH	891	1003	1.51e-8	SMART
PH	1013	1112	9.21e-4	SMART
RhoGAP	1124	1300	1.36e-50	SMART
Pfam:RA	1325	1416	2.1e-7	PFAM
PH	1429	1533	2.68e-14	SMART
coiled coil region	1561	1590	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	T	17: 79,935,638 (GRCm39)		probably benign	Het
Apeh	C	T	9: 107,971,486 (GRCm39)	A29T	probably damaging	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Asf1b	T	C	8: 84,682,540 (GRCm39)	F28S	probably damaging	Het
Cd46	T	A	1: 194,767,693 (GRCm39)	I123L	possibly damaging	Het
Cdca7	A	T	2: 72,309,370 (GRCm39)	T48S	probably damaging	Het
Cfap53	T	A	18: 74,492,838 (GRCm39)		probably benign	Het
Clca3a2	T	A	3: 144,511,599 (GRCm39)	T599S	probably benign	Het
Csf1	T	A	3: 107,656,252 (GRCm39)	T148S	probably benign	Het
Dmbt1	T	C	7: 130,699,400 (GRCm39)		probably null	Het
Dmpk	A	G	7: 18,818,050 (GRCm39)	D44G	probably damaging	Het
Dnajb12	T	A	10: 59,728,782 (GRCm39)	N223K	probably damaging	Het
Dync1h1	T	A	12: 110,595,264 (GRCm39)	M1392K	probably benign	Het
Edrf1	C	T	7: 133,261,908 (GRCm39)	A867V	probably damaging	Het
Efemp2	T	A	19: 5,527,706 (GRCm39)	C94S	possibly damaging	Het
Epha8	C	T	4: 136,666,037 (GRCm39)	S373N	probably benign	Het
Foxk1	A	G	5: 142,434,588 (GRCm39)	D284G	possibly damaging	Het
Fzd10	C	A	5: 128,678,366 (GRCm39)	R29S	possibly damaging	Het
Gm13991	T	C	2: 116,358,665 (GRCm39)		noncoding transcript	Het
Gm6818	A	T	7: 38,101,471 (GRCm39)		noncoding transcript	Het
Hydin	T	A	8: 111,336,333 (GRCm39)	C5037S	probably benign	Het
Ikzf1	T	A	11: 11,719,448 (GRCm39)	M492K	probably damaging	Het
Krt20	G	T	11: 99,320,879 (GRCm39)	S394R	possibly damaging	Het
Lrrc71	T	A	3: 87,653,094 (GRCm39)	R107S	probably benign	Het
Mia2	A	G	12: 59,219,323 (GRCm39)	T436A	possibly damaging	Het
Muc19	T	A	15: 91,784,614 (GRCm39)		noncoding transcript	Het
Neu4	T	C	1: 93,952,177 (GRCm39)	V182A	probably damaging	Het
Notch2	T	G	3: 98,031,626 (GRCm39)	F1167V	possibly damaging	Het
Nrap	A	G	19: 56,360,277 (GRCm39)	M189T	possibly damaging	Het
Nt5m	A	T	11: 59,765,487 (GRCm39)	I172F	probably damaging	Het
Or5b118	G	T	19: 13,449,037 (GRCm39)	K234N	probably damaging	Het
Or5w15	G	A	2: 87,568,119 (GRCm39)	P183L	possibly damaging	Het
Or8k41	A	T	2: 86,313,362 (GRCm39)	C241*	probably null	Het
Plekha5	C	T	6: 140,372,254 (GRCm39)	T68M	probably damaging	Het
Ppef2	A	G	5: 92,392,461 (GRCm39)		probably null	Het
Ppp1r37	T	C	7: 19,295,900 (GRCm39)		probably benign	Het
Rfx4	T	C	10: 84,704,218 (GRCm39)	Y238H	probably damaging	Het
Sanbr	A	G	11: 23,543,424 (GRCm39)		probably null	Het
Sec13	G	A	6: 113,707,837 (GRCm39)	A161V	probably benign	Het
Serhl	G	A	15: 82,986,895 (GRCm39)		probably benign	Het
Slco4a1	T	C	2: 180,114,572 (GRCm39)	V588A	probably benign	Het
Slitrk3	T	C	3: 72,956,592 (GRCm39)	T727A	probably benign	Het
Sp100	T	A	1: 85,601,404 (GRCm39)	D241E	probably damaging	Het
Spata2	G	T	2: 167,325,494 (GRCm39)	H442N	probably damaging	Het
Speg	T	C	1: 75,404,731 (GRCm39)	V2588A	probably damaging	Het
Tnfsf12	A	G	11: 69,578,155 (GRCm39)	S141P	probably damaging	Het
Trank1	A	G	9: 111,219,762 (GRCm39)	I2166M	probably damaging	Het
Trim10	T	A	17: 37,187,948 (GRCm39)	V388E	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r10	A	G	5: 109,143,466 (GRCm39)	V828A	probably benign	Het
Vmn2r75	T	A	7: 85,813,436 (GRCm39)	L455F	possibly damaging	Het
Vwa8	T	A	14: 79,221,666 (GRCm39)	S541T	probably benign	Het

Other mutations in Arap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Arap2	APN	5	62,793,305 (GRCm39)	missense	probably damaging	1.00
IGL00642:Arap2	APN	5	62,890,401 (GRCm39)	nonsense	probably null
IGL00705:Arap2	APN	5	62,835,366 (GRCm39)	missense	probably damaging	1.00
IGL00942:Arap2	APN	5	62,855,732 (GRCm39)	nonsense	probably null
IGL01069:Arap2	APN	5	62,807,199 (GRCm39)	missense	probably benign
IGL01601:Arap2	APN	5	62,798,685 (GRCm39)	missense	probably damaging	1.00
IGL01986:Arap2	APN	5	62,779,265 (GRCm39)	missense	probably damaging	1.00
IGL02032:Arap2	APN	5	62,828,340 (GRCm39)	missense	probably damaging	0.99
IGL02262:Arap2	APN	5	62,800,184 (GRCm39)	missense	probably damaging	1.00
IGL02331:Arap2	APN	5	62,807,025 (GRCm39)	splice site	probably benign
IGL02527:Arap2	APN	5	62,906,650 (GRCm39)	missense	probably benign
IGL02803:Arap2	APN	5	62,906,452 (GRCm39)	missense	probably benign
IGL02864:Arap2	APN	5	62,835,308 (GRCm39)	missense	probably damaging	1.00
IGL03078:Arap2	APN	5	62,890,408 (GRCm39)	splice site	probably benign
IGL03154:Arap2	APN	5	62,800,268 (GRCm39)	missense	probably damaging	1.00
IGL03213:Arap2	APN	5	62,906,438 (GRCm39)	missense	probably benign	0.00
IGL03279:Arap2	APN	5	62,779,253 (GRCm39)	missense	probably damaging	1.00
IGL03288:Arap2	APN	5	62,761,959 (GRCm39)	missense	probably benign	0.00
PIT4354001:Arap2	UTSW	5	62,811,392 (GRCm39)	missense	probably damaging	1.00
R0012:Arap2	UTSW	5	62,840,827 (GRCm39)	missense	probably damaging	1.00
R0013:Arap2	UTSW	5	62,840,827 (GRCm39)	missense	probably damaging	1.00
R0013:Arap2	UTSW	5	62,840,827 (GRCm39)	missense	probably damaging	1.00
R0166:Arap2	UTSW	5	62,833,361 (GRCm39)	missense	probably damaging	1.00
R0472:Arap2	UTSW	5	62,864,002 (GRCm39)	missense	probably damaging	1.00
R0506:Arap2	UTSW	5	62,763,474 (GRCm39)	missense	possibly damaging	0.87
R0551:Arap2	UTSW	5	62,798,666 (GRCm39)	splice site	probably null
R0607:Arap2	UTSW	5	62,763,474 (GRCm39)	missense	possibly damaging	0.87
R0617:Arap2	UTSW	5	62,807,250 (GRCm39)	splice site	probably benign
R0975:Arap2	UTSW	5	62,888,229 (GRCm39)	splice site	probably benign
R0976:Arap2	UTSW	5	62,807,227 (GRCm39)	missense	probably damaging	1.00
R1164:Arap2	UTSW	5	62,840,820 (GRCm39)	missense	probably damaging	1.00
R1268:Arap2	UTSW	5	62,887,964 (GRCm39)	missense	probably benign	0.00
R1480:Arap2	UTSW	5	62,826,472 (GRCm39)	nonsense	probably null
R1502:Arap2	UTSW	5	62,761,747 (GRCm39)	missense	probably benign	0.00
R1543:Arap2	UTSW	5	62,763,498 (GRCm39)	nonsense	probably null
R1865:Arap2	UTSW	5	62,855,606 (GRCm39)	missense	probably damaging	0.97
R1962:Arap2	UTSW	5	62,834,007 (GRCm39)	missense	possibly damaging	0.82
R2040:Arap2	UTSW	5	62,906,259 (GRCm39)	missense	probably damaging	0.99
R2118:Arap2	UTSW	5	62,864,028 (GRCm39)	missense	probably damaging	1.00
R2131:Arap2	UTSW	5	62,835,301 (GRCm39)	missense	probably damaging	1.00
R2201:Arap2	UTSW	5	62,864,028 (GRCm39)	missense	probably damaging	1.00
R2215:Arap2	UTSW	5	62,834,519 (GRCm39)	missense	probably damaging	1.00
R3027:Arap2	UTSW	5	62,827,240 (GRCm39)	missense	probably damaging	1.00
R3053:Arap2	UTSW	5	62,906,200 (GRCm39)	missense	probably benign	0.35
R3975:Arap2	UTSW	5	62,906,237 (GRCm39)	missense	possibly damaging	0.87
R4272:Arap2	UTSW	5	62,828,322 (GRCm39)	missense	possibly damaging	0.63
R4273:Arap2	UTSW	5	62,828,322 (GRCm39)	missense	possibly damaging	0.63
R4326:Arap2	UTSW	5	62,779,206 (GRCm39)	missense	possibly damaging	0.50
R4327:Arap2	UTSW	5	62,779,206 (GRCm39)	missense	possibly damaging	0.50
R4328:Arap2	UTSW	5	62,779,206 (GRCm39)	missense	possibly damaging	0.50
R4451:Arap2	UTSW	5	62,906,513 (GRCm39)	missense	probably benign	0.06
R4659:Arap2	UTSW	5	62,811,469 (GRCm39)	missense	possibly damaging	0.94
R4665:Arap2	UTSW	5	62,827,312 (GRCm39)	missense	possibly damaging	0.95
R4715:Arap2	UTSW	5	62,906,437 (GRCm39)	missense	probably benign	0.43
R4808:Arap2	UTSW	5	62,887,984 (GRCm39)	missense	probably benign	0.23
R4941:Arap2	UTSW	5	62,906,821 (GRCm39)	missense	probably benign	0.20
R4983:Arap2	UTSW	5	62,833,868 (GRCm39)	missense	probably damaging	0.98
R5095:Arap2	UTSW	5	62,811,392 (GRCm39)	missense	probably damaging	1.00
R5201:Arap2	UTSW	5	62,840,832 (GRCm39)	missense	probably damaging	1.00
R5346:Arap2	UTSW	5	62,872,089 (GRCm39)	missense	probably benign	0.39
R5359:Arap2	UTSW	5	62,840,762 (GRCm39)	nonsense	probably null
R5426:Arap2	UTSW	5	62,800,159 (GRCm39)	missense	probably benign	0.02
R5503:Arap2	UTSW	5	62,787,529 (GRCm39)	missense	probably damaging	1.00
R5605:Arap2	UTSW	5	62,772,410 (GRCm39)	missense	possibly damaging	0.47
R5764:Arap2	UTSW	5	62,800,197 (GRCm39)	missense	probably damaging	1.00
R5813:Arap2	UTSW	5	62,834,506 (GRCm39)	missense	probably damaging	1.00
R5846:Arap2	UTSW	5	62,807,116 (GRCm39)	missense	probably damaging	1.00
R6084:Arap2	UTSW	5	62,828,297 (GRCm39)	missense	possibly damaging	0.89
R6173:Arap2	UTSW	5	62,906,965 (GRCm39)	missense	probably damaging	1.00
R6175:Arap2	UTSW	5	62,872,074 (GRCm39)	critical splice donor site	probably null
R6249:Arap2	UTSW	5	62,803,536 (GRCm39)	missense	probably damaging	0.99
R6386:Arap2	UTSW	5	62,761,865 (GRCm39)	missense	possibly damaging	0.89
R6424:Arap2	UTSW	5	62,840,707 (GRCm39)	missense	probably damaging	1.00
R6744:Arap2	UTSW	5	62,906,281 (GRCm39)	missense	probably damaging	1.00
R6766:Arap2	UTSW	5	62,834,443 (GRCm39)	critical splice donor site	probably null
R6990:Arap2	UTSW	5	62,833,860 (GRCm39)	missense	probably damaging	0.96
R7067:Arap2	UTSW	5	62,811,387 (GRCm39)	critical splice donor site	probably null
R7098:Arap2	UTSW	5	62,833,293 (GRCm39)	critical splice donor site	probably null
R7107:Arap2	UTSW	5	62,763,551 (GRCm39)	missense	probably damaging	0.98
R7156:Arap2	UTSW	5	62,761,914 (GRCm39)	missense	probably damaging	1.00
R7174:Arap2	UTSW	5	62,761,621 (GRCm39)	missense	probably benign
R7187:Arap2	UTSW	5	62,826,396 (GRCm39)	missense	probably damaging	0.99
R7197:Arap2	UTSW	5	62,798,729 (GRCm39)	missense	possibly damaging	0.89
R7214:Arap2	UTSW	5	62,906,681 (GRCm39)	missense	probably benign	0.00
R7317:Arap2	UTSW	5	62,807,067 (GRCm39)	missense	probably damaging	1.00
R7392:Arap2	UTSW	5	62,855,728 (GRCm39)	missense	possibly damaging	0.54
R7438:Arap2	UTSW	5	62,906,818 (GRCm39)	missense	probably damaging	0.99
R7452:Arap2	UTSW	5	62,833,892 (GRCm39)	missense	probably benign	0.00
R7495:Arap2	UTSW	5	62,833,893 (GRCm39)	missense	possibly damaging	0.78
R7796:Arap2	UTSW	5	62,888,105 (GRCm39)	missense	probably damaging	1.00
R7936:Arap2	UTSW	5	62,888,048 (GRCm39)	missense	probably damaging	0.96
R8116:Arap2	UTSW	5	62,887,954 (GRCm39)	missense	probably benign	0.00
R8172:Arap2	UTSW	5	62,779,324 (GRCm39)	splice site	probably null
R8277:Arap2	UTSW	5	62,771,335 (GRCm39)	critical splice donor site	probably null
R8369:Arap2	UTSW	5	62,761,669 (GRCm39)	nonsense	probably null
R8398:Arap2	UTSW	5	62,906,252 (GRCm39)	missense	probably damaging	1.00
R8893:Arap2	UTSW	5	62,888,037 (GRCm39)	missense	probably damaging	1.00
R8973:Arap2	UTSW	5	62,855,668 (GRCm39)	nonsense	probably null
R9102:Arap2	UTSW	5	62,906,341 (GRCm39)	missense	probably benign	0.03
R9121:Arap2	UTSW	5	62,906,326 (GRCm39)	missense	possibly damaging	0.84
R9174:Arap2	UTSW	5	62,855,606 (GRCm39)	missense	probably damaging	1.00
R9222:Arap2	UTSW	5	62,828,421 (GRCm39)	missense	possibly damaging	0.96
R9281:Arap2	UTSW	5	62,906,848 (GRCm39)	missense	probably damaging	0.97
R9399:Arap2	UTSW	5	62,763,455 (GRCm39)	missense	possibly damaging	0.62
R9450:Arap2	UTSW	5	62,855,762 (GRCm39)	missense	probably benign	0.16
R9467:Arap2	UTSW	5	62,887,900 (GRCm39)	missense	probably benign	0.00
R9567:Arap2	UTSW	5	62,761,841 (GRCm39)	missense	probably benign	0.01
R9577:Arap2	UTSW	5	62,769,060 (GRCm39)	missense	probably damaging	1.00
R9626:Arap2	UTSW	5	62,906,878 (GRCm39)	missense	probably benign	0.00
R9688:Arap2	UTSW	5	62,872,109 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TATATCCCAACACGCATCGG -3'
(R):5'- GTTTGCCTTAAGTCTCATGGC -3'

Sequencing Primer
(F):5'- GGGCAGGGTCCTTACTTAGCTC -3'
(R):5'- GCCTTAAGTCTCATGGCATTTTAAAC -3'

Posted On

2016-06-21