Mutagenetix > Incidental Mutation

Incidental Mutation 'R9626:Arap2'

725138

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9626 (G1)

Quality Score

166.009

Status

Not validated

Chromosome

Chromosomal Location

62759788-62923502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62906878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 47 (H47L)

Ref Sequence

ENSEMBL: ENSMUSP00000124743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076623] [ENSMUST00000159470]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000076623
AA Change: H47L

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

SMART Domains

Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999
AA Change: H47L

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

probably benign
Transcript: ENSMUST00000159470
AA Change: H47L

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

SMART Domains

Protein: ENSMUSP00000124743
Gene: ENSMUSG00000037999
AA Change: H47L

Domain	Start	End	E-Value	Type
SAM	3	70	3.69e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,127,502 (GRCm39)	N37I	unknown	Het
Abca9	T	A	11: 110,011,606 (GRCm39)	T1146S	probably benign	Het
Acnat2	G	A	4: 49,380,179 (GRCm39)	H400Y	probably damaging	Het
Adgrd1	T	C	5: 129,275,721 (GRCm39)	S768P	probably damaging	Het
Atxn1	T	A	13: 45,710,796 (GRCm39)	N712I	possibly damaging	Het
Bri3bp	T	A	5: 125,531,572 (GRCm39)	S173T	probably damaging	Het
Camta1	A	T	4: 151,168,287 (GRCm39)	S254R	probably damaging	Het
Card9	T	C	2: 26,247,294 (GRCm39)	E285G	probably benign	Het
Celf2	G	A	2: 6,590,835 (GRCm39)	A320V	probably benign	Het
Celsr3	T	C	9: 108,726,521 (GRCm39)	I3250T	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntrob	T	C	11: 69,202,167 (GRCm39)	H475R	possibly damaging	Het
Dcaf6	G	A	1: 165,227,264 (GRCm39)	R288*	probably null	Het
Ebna1bp2	G	A	4: 118,478,371 (GRCm39)		probably benign	Het
Erich3	A	T	3: 154,444,730 (GRCm39)	D302V	probably benign	Het
Fbxo48	T	A	11: 16,904,333 (GRCm39)	*162K	probably null	Het
Fyttd1	T	C	16: 32,725,915 (GRCm39)	L290S	probably damaging	Het
Gcc1	T	C	6: 28,418,917 (GRCm39)	D472G	probably damaging	Het
Gjb4	C	T	4: 127,246,081 (GRCm39)		probably benign	Het
Gm5157	G	T	7: 20,919,396 (GRCm39)	T49K	probably damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Hnrnpm	G	T	17: 33,896,264 (GRCm39)	D88E	probably damaging	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hunk	C	T	16: 90,272,791 (GRCm39)	T365M	probably damaging	Het
Lamb1	A	G	12: 31,354,669 (GRCm39)	D972G	probably benign	Het
Mamdc4	A	G	2: 25,458,273 (GRCm39)	L379P	probably damaging	Het
Mcrs1	A	G	15: 99,146,353 (GRCm39)	L179P	probably damaging	Het
Mterf2	C	T	10: 84,956,295 (GRCm39)	A110T	probably benign	Het
Mucl1	A	G	15: 103,783,934 (GRCm39)	S91P	possibly damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ndst4	A	C	3: 125,476,829 (GRCm39)	D18A	probably damaging	Het
Ndufv1	A	T	19: 4,058,064 (GRCm39)	C382*	probably null	Het
Npc1l1	T	C	11: 6,177,854 (GRCm39)	K519E	probably benign	Het
Nphs1	A	G	7: 30,166,991 (GRCm39)	K747E	probably benign	Het
Nubp2	C	G	17: 25,103,374 (GRCm39)		probably null	Het
Odad2	G	T	18: 7,211,422 (GRCm39)	C817*	probably null	Het
Or13a19	T	C	7: 139,903,236 (GRCm39)	V208A	probably benign	Het
Or5b97	A	T	19: 12,878,600 (GRCm39)	D181E	possibly damaging	Het
Or7a36	T	G	10: 78,820,213 (GRCm39)	D196E	probably benign	Het
Or7a40	A	G	16: 16,491,491 (GRCm39)	M118T	probably damaging	Het
Or8b48	A	G	9: 38,492,977 (GRCm39)	T135A	probably benign	Het
Pcdhac2	T	G	18: 37,279,555 (GRCm39)	L845R	probably damaging	Het
Pcdhb14	A	C	18: 37,581,787 (GRCm39)	T298P	probably damaging	Het
Phldb2	A	T	16: 45,592,547 (GRCm39)	L957Q	possibly damaging	Het
Pole	A	G	5: 110,459,959 (GRCm39)	D1121G	possibly damaging	Het
Ppp1r3g	C	A	13: 36,153,612 (GRCm39)	T344K	probably benign	Het
Prpf8	A	G	11: 75,385,681 (GRCm39)	K954R	possibly damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Sap18b	A	G	8: 96,552,098 (GRCm39)	E36G	possibly damaging	Het
Slc46a2	A	T	4: 59,914,241 (GRCm39)	F227L	probably benign	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Spmip4	T	A	6: 50,550,930 (GRCm39)	K506N		Het
Ssc5d	C	A	7: 4,946,568 (GRCm39)	T974K	probably benign	Het
Tenm4	C	A	7: 96,545,345 (GRCm39)	R2491S	probably damaging	Het
Tex2	T	C	11: 106,437,579 (GRCm39)	E697G	unknown	Het
Tmem44	A	T	16: 30,366,226 (GRCm39)	F67I	possibly damaging	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Ttc39a	A	G	4: 109,278,570 (GRCm39)	D77G	possibly damaging	Het
Ttc9	A	G	12: 81,710,301 (GRCm39)	I198V	probably benign	Het
Ttn	C	T	2: 76,661,550 (GRCm39)	V11942M	unknown	Het
Uqcrc2	T	A	7: 120,237,118 (GRCm39)	Y55*	probably null	Het
Vmn1r160	A	T	7: 22,571,273 (GRCm39)	M209L	probably benign	Het
Vmn2r50	A	T	7: 9,771,960 (GRCm39)	C580*	probably null	Het
Vmn2r96	A	G	17: 18,793,758 (GRCm39)	E34G	probably benign	Het
Zmynd8	C	T	2: 165,654,268 (GRCm39)		probably null	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
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
R9688:Arap2	UTSW	5	62,872,109 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCCAGGTCTATGGACAGTAATGG -3'
(R):5'- TGTCTCATGGTGCAGCTTTTAAC -3'

Sequencing Primer
(F):5'- TGGAATCGGAACACTCTATGCCG -3'
(R):5'- GGTGCAGCTTTTAACACTCACATAG -3'

Posted On

2022-09-12