Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Arap2'

45157

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

038743-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62759788-62923502 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 62798666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200549

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,598 (GRCm39)	T456S	probably benign	Het
Acmsd	A	T	1: 127,694,070 (GRCm39)	K333N	probably benign	Het
Adcy2	T	A	13: 68,944,658 (GRCm39)	K241N	probably damaging	Het
Aebp1	A	G	11: 5,817,955 (GRCm39)	I77V	probably benign	Het
Albfm1	C	T	5: 90,720,578 (GRCm39)	P250S	probably damaging	Het
Ankrd35	A	G	3: 96,591,276 (GRCm39)	T521A	probably benign	Het
Arfgap3	A	T	15: 83,227,338 (GRCm39)	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,737,125 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Auts2	T	C	5: 131,469,307 (GRCm39)	E446G	possibly damaging	Het
Brwd1	C	T	16: 95,837,174 (GRCm39)	R886H	probably damaging	Het
Carm1	G	A	9: 21,491,787 (GRCm39)		probably null	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cfap54	A	T	10: 92,860,984 (GRCm39)	M841K	probably benign	Het
Clca4b	T	A	3: 144,634,387 (GRCm39)	T69S	probably damaging	Het
Cpox	A	G	16: 58,495,753 (GRCm39)	I357V	probably benign	Het
Diaph3	C	A	14: 87,147,536 (GRCm39)	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,567,904 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,651,905 (GRCm39)		probably benign	Het
Fcho1	A	G	8: 72,164,818 (GRCm39)	S488P	probably benign	Het
Flcn	A	G	11: 59,686,574 (GRCm39)		probably null	Het
Flt3l	A	G	7: 44,781,690 (GRCm39)	W234R	probably damaging	Het
Fzd7	G	T	1: 59,522,443 (GRCm39)	V109L	probably damaging	Het
G3bp1	A	G	11: 55,379,969 (GRCm39)	N101S	probably benign	Het
Gadd45g	A	G	13: 52,001,963 (GRCm39)	E143G	probably damaging	Het
Ganab	T	G	19: 8,884,644 (GRCm39)	I149S	probably benign	Het
Garnl3	A	G	2: 32,906,750 (GRCm39)	S413P	probably damaging	Het
Glis1	C	T	4: 107,425,316 (GRCm39)		probably null	Het
Gm11563	A	G	11: 99,549,539 (GRCm39)	S72P	unknown	Het
Gpd1	T	G	15: 99,618,510 (GRCm39)	I188S	possibly damaging	Het
Gria2	A	G	3: 80,639,333 (GRCm39)		probably benign	Het
Hpcal4	G	T	4: 123,082,848 (GRCm39)	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,236,089 (GRCm39)	T1364I	probably benign	Het
Kdm4a	T	C	4: 117,995,428 (GRCm39)	*1065W	probably null	Het
Klkb1	A	G	8: 45,731,003 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,557,951 (GRCm39)	D147G	probably damaging	Het
Lrp1	A	G	10: 127,407,827 (GRCm39)	S1821P	probably benign	Het
Macroh2a2	A	G	10: 61,576,945 (GRCm39)	S308P	probably damaging	Het
Manba	T	C	3: 135,223,734 (GRCm39)	I207T	probably damaging	Het
Mark3	T	A	12: 111,600,068 (GRCm39)	S428T	probably benign	Het
Mfsd4a	G	A	1: 131,969,657 (GRCm39)	T348I	probably damaging	Het
Mybbp1a	A	G	11: 72,339,202 (GRCm39)	M880V	probably benign	Het
N4bp2	T	A	5: 65,977,684 (GRCm39)		probably null	Het
Nrdc	T	G	4: 108,904,905 (GRCm39)	I712S	probably damaging	Het
Nup210	G	A	6: 90,998,466 (GRCm39)	R774C	possibly damaging	Het
Obscn	G	A	11: 58,998,688 (GRCm39)	R1395*	probably null	Het
Or5b102	T	A	19: 13,041,658 (GRCm39)	D294E	probably benign	Het
Pcdh7	T	C	5: 57,879,336 (GRCm39)	Y964H	probably damaging	Het
Pgap6	C	A	17: 26,339,576 (GRCm39)	Q605K	probably damaging	Het
Plin4	T	C	17: 56,413,756 (GRCm39)	T290A	probably benign	Het
Ppara	T	C	15: 85,671,306 (GRCm39)		probably benign	Het
Psg21	T	G	7: 18,386,565 (GRCm39)		probably null	Het
Ptar1	C	A	19: 23,697,704 (GRCm39)	N405K	probably benign	Het
Ralgps2	A	G	1: 156,660,233 (GRCm39)		probably null	Het
Rnf6	T	A	5: 146,148,205 (GRCm39)	N271I	possibly damaging	Het
Sis	T	C	3: 72,832,740 (GRCm39)	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,329,688 (GRCm39)		probably benign	Het
Slc49a3	A	G	5: 108,592,331 (GRCm39)		probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Sntg1	C	A	1: 8,624,960 (GRCm39)	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,300,260 (GRCm39)	E567D	probably damaging	Het
Sp110	C	A	1: 85,516,821 (GRCm39)		probably benign	Het
Ssu2	A	G	6: 112,357,515 (GRCm39)	V175A	possibly damaging	Het
Stk36	G	A	1: 74,655,780 (GRCm39)	E428K	probably benign	Het
Teddm1b	A	T	1: 153,751,090 (GRCm39)	I300F	possibly damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tiam2	T	A	17: 3,479,229 (GRCm39)	M654K	probably damaging	Het
Tmem69	T	C	4: 116,410,470 (GRCm39)	S167G	probably benign	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tspan10	A	G	11: 120,335,244 (GRCm39)	D118G	probably damaging	Het
Tspo2	A	G	17: 48,755,841 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,738,672 (GRCm39)	Q4002*	probably null	Het
Tyro3	G	A	2: 119,647,385 (GRCm39)	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 87,073,943 (GRCm39)	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,048,524 (GRCm39)	I200F	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
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
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'- TGAAACCCACTGGCATAGCAAAGAG -3'
(R):5'- GGGCATCATCAAAGCACATTCCAAG -3'

Sequencing Primer
(F):5'- CTGGCATAGCAAAGAGTGTTTTGG -3'
(R):5'- GCTCCTGTGATCAAGATGATGC -3'

Posted On

2013-06-11