Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:Arap2'

577796

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

045526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62759788-62923502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62833892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 858 (S858R)

Ref Sequence

ENSEMBL: ENSMUSP00000075924 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000076623
AA Change: S858R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999
AA Change: S858R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,618,291 (GRCm39)	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,190,897 (GRCm39)	G249R	probably damaging	Het
Actn1	T	C	12: 80,230,376 (GRCm39)	T293A	probably benign	Het
Adamts5	T	A	16: 85,674,869 (GRCm39)	T432S	probably benign	Het
Adh5	A	G	3: 138,160,506 (GRCm39)	T347A	probably benign	Het
Agbl5	A	G	5: 31,050,735 (GRCm39)	D432G	probably damaging	Het
Ank3	A	G	10: 69,734,881 (GRCm39)	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,885,724 (GRCm39)	V743G	probably benign	Het
Arid1a	A	C	4: 133,480,438 (GRCm39)	V162G	possibly damaging	Het
Armc9	A	G	1: 86,140,814 (GRCm39)	D588G	possibly damaging	Het
Art3	A	G	5: 92,540,539 (GRCm39)	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,946,527 (GRCm39)	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,075 (GRCm39)	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,717,596 (GRCm39)	L469P	probably damaging	Het
Celsr2	T	A	3: 108,320,406 (GRCm39)	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,452,981 (GRCm39)	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731 (GRCm39)	D2024A	probably benign	Het
Corin	T	A	5: 72,592,590 (GRCm39)	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,795 (GRCm39)	I359F	probably damaging	Het
Defb6	T	C	8: 19,275,540 (GRCm39)	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,686,196 (GRCm39)	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,866,664 (GRCm39)	F682S	probably damaging	Het
Enpep	T	A	3: 129,065,052 (GRCm39)	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,730,132 (GRCm39)	N462S	probably damaging	Het
Ephb3	T	C	16: 21,036,107 (GRCm39)		probably null	Het
F7	C	T	8: 13,085,215 (GRCm39)	H414Y	probably benign	Het
Fbn1	T	C	2: 125,347,375 (GRCm39)	H50R	possibly damaging	Het
Fig4	T	C	10: 41,116,633 (GRCm39)	D586G	possibly damaging	Het
Fryl	A	G	5: 73,181,331 (GRCm39)	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,800,240 (GRCm39)	H30Q	possibly damaging	Het
Garre1	A	G	7: 33,945,096 (GRCm39)	S595P	probably benign	Het
Gm12886	G	A	4: 121,274,671 (GRCm39)	Q70*	probably null	Het
Gm8104	A	C	14: 42,967,501 (GRCm39)	T190P	probably benign	Het
Hps3	A	T	3: 20,065,592 (GRCm39)	N749K	probably damaging	Het
Hr	A	G	14: 70,808,926 (GRCm39)	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,423,074 (GRCm39)	S210T	probably benign	Het
Ift80	T	C	3: 68,901,615 (GRCm39)		probably null	Het
Iqgap1	A	G	7: 80,410,577 (GRCm39)	V212A	possibly damaging	Het
Itih5	A	G	2: 10,243,607 (GRCm39)	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,552,686 (GRCm39)	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,262,692 (GRCm39)	Y52C	probably benign	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030 (GRCm39)	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705 (GRCm39)	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,384,733 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,517,056 (GRCm39)	I458L	probably benign	Het
Nfam1	T	A	15: 82,899,163 (GRCm39)	M128L	probably benign	Het
Or2y13	C	A	11: 49,415,208 (GRCm39)	H219Q	probably benign	Het
Or4g16	A	G	2: 111,137,266 (GRCm39)	T239A	probably damaging	Het
Or5p75-ps1	C	T	7: 108,107,800 (GRCm39)	T179I	unknown	Het
Or8b50	A	T	9: 38,518,384 (GRCm39)	I208F	probably benign	Het
P2ry14	C	T	3: 59,023,466 (GRCm39)	G7D	probably benign	Het
Pde11a	A	G	2: 75,966,758 (GRCm39)	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,058,467 (GRCm39)	V262I	probably benign	Het
Poli	A	G	18: 70,642,049 (GRCm39)	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,195,783 (GRCm39)	W93R	probably damaging	Het
Rbm46	T	C	3: 82,771,428 (GRCm39)	M396V	probably benign	Het
Rcor2	T	C	19: 7,248,587 (GRCm39)	V212A	probably benign	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Skp2	T	A	15: 9,113,920 (GRCm39)	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,269,034 (GRCm39)	S312T	probably benign	Het
Sstr1	T	C	12: 58,260,142 (GRCm39)	L255P	probably damaging	Het
Steap3	T	C	1: 120,155,585 (GRCm39)	E458G	possibly damaging	Het
Sv2b	T	A	7: 74,797,461 (GRCm39)	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	A	G	8: 70,630,138 (GRCm39)	D108G	probably damaging	Het
Traf5	T	A	1: 191,731,792 (GRCm39)	I47F		Het
Trp53bp2	C	T	1: 182,274,133 (GRCm39)	Q95*	probably null	Het
Ttn	G	T	2: 76,707,487 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,040,397 (GRCm39)	S1626P	probably benign	Het
Usp3	T	C	9: 66,474,180 (GRCm39)	R33G	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	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
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
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'- TTTGCAAAGAAGCACACACTTAAGC -3'
(R):5'- AGCTGGACTCACATTCACTTCC -3'

Sequencing Primer
(F):5'- GAAGCACACACTTAAGCCATAG -3'
(R):5'- CCACCAATGTCCTTTGAATGCATAGG -3'

Posted On

2019-10-07