Mutagenetix > Incidental Mutation

Incidental Mutation 'R4327:Arap2'

324411

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

041097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62759788-62923502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62779206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1461 (H1461Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075924 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076623
AA Change: H1461Q

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999
AA Change: H1461Q

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (64/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,221,664 (GRCm39)	D55G	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arhgef12	C	A	9: 42,886,525 (GRCm39)	E1152*	probably null	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atp1a3	A	G	7: 24,687,056 (GRCm39)		probably benign	Het
Bcl2l1	A	G	2: 152,624,099 (GRCm39)	V223A	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cela3b	G	T	4: 137,151,242 (GRCm39)	A137E	probably benign	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Col16a1	T	C	4: 129,988,344 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,299 (GRCm39)		probably benign	Het
Cyp2j8	T	A	4: 96,395,566 (GRCm39)	T20S	probably benign	Het
Fastkd2	A	G	1: 63,791,516 (GRCm39)	K675E	probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Hmgxb3	A	T	18: 61,300,611 (GRCm39)	M155K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kcnn1	A	T	8: 71,305,307 (GRCm39)	V301E	probably damaging	Het
Kcnq4	T	C	4: 120,568,561 (GRCm39)	E385G	probably benign	Het
Klhl28	G	A	12: 64,996,952 (GRCm39)	A463V	probably damaging	Het
Lhb	A	G	7: 45,070,383 (GRCm39)	R3G	possibly damaging	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Macf1	C	T	4: 123,276,005 (GRCm39)	A4176T	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Muc2	A	C	7: 141,281,577 (GRCm39)	S479R	probably damaging	Het
Or11g27	T	A	14: 50,770,971 (GRCm39)	I34N	probably benign	Het
Or12e10	G	T	2: 87,640,496 (GRCm39)	V111L	probably benign	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or52n1	G	A	7: 104,382,833 (GRCm39)	T246I	probably damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pex26	A	T	6: 121,164,373 (GRCm39)	E172V	probably damaging	Het
Pitrm1	A	G	13: 6,629,809 (GRCm39)		probably benign	Het
Ptprs	C	A	17: 56,754,468 (GRCm39)	A191S	possibly damaging	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Scn7a	A	G	2: 66,567,815 (GRCm39)	F260L	probably damaging	Het
Serpinb3a	T	A	1: 106,979,500 (GRCm39)	M1L	probably damaging	Het
Sh3d19	T	C	3: 86,031,020 (GRCm39)	I728T	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,478 (GRCm39)	V355A	probably benign	Het
St7	G	A	6: 17,819,287 (GRCm39)	V64M	probably damaging	Het
Tcf25	T	A	8: 124,127,882 (GRCm39)	L622*	probably null	Het
Tiam1	A	G	16: 89,652,779 (GRCm39)	V781A	possibly damaging	Het
Tigd2	C	A	6: 59,187,562 (GRCm39)	T143K	probably benign	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem161b	G	A	13: 84,399,359 (GRCm39)	G5D	probably damaging	Het
Tonsl	G	A	15: 76,523,916 (GRCm39)	A28V	probably benign	Het
Treml4	T	C	17: 48,581,417 (GRCm39)	Y222H	probably damaging	Het
Trp53bp1	A	T	2: 121,087,131 (GRCm39)	V175D	probably damaging	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp286	A	G	11: 62,670,844 (GRCm39)	C410R	probably damaging	Het
Zfp934	T	G	13: 62,665,373 (GRCm39)	N312H	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
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
R5156:Arap2	UTSW	5	62,826,524 (GRCm39)	nonsense	probably null
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'- TGTTGTAACCTTGCAGAGACT -3'
(R):5'- TGGATGTCCATAATCAGTAAGTTGT -3'

Sequencing Primer
(F):5'- ACTGCAGGAAGTCACCGG -3'
(R):5'- ACAGTAGGCAGCTGTCAGTCTTC -3'

Posted On

2015-06-24