Mutagenetix > Incidental Mutation

Incidental Mutation 'R7098:Arap2'

550627

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

045190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62759788-62923502 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 62833293 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,644,784 (GRCm39)	M223K	probably benign	Het
Abce1	T	C	8: 80,412,678 (GRCm39)	T550A	probably benign	Het
Acoxl	C	T	2: 127,696,835 (GRCm39)	Q28*	probably null	Het
Adam8	T	C	7: 139,559,412 (GRCm39)	K820R	possibly damaging	Het
Adamts3	G	T	5: 90,009,354 (GRCm39)	A103D	probably damaging	Het
Apba2	T	A	7: 64,386,696 (GRCm39)	V441D	probably damaging	Het
Arhgef10l	T	A	4: 140,308,222 (GRCm39)	M44L	probably benign	Het
Asb4	T	C	6: 5,398,499 (GRCm39)	C155R	probably damaging	Het
Bpifb6	A	T	2: 153,748,810 (GRCm39)	K269*	probably null	Het
Cc2d2a	A	T	5: 43,840,481 (GRCm39)	T161S	probably benign	Het
Ccdc15	T	A	9: 37,255,256 (GRCm39)	Q98L	probably damaging	Het
Col19a1	A	G	1: 24,565,555 (GRCm39)	S259P	unknown	Het
Col5a2	A	T	1: 45,419,227 (GRCm39)	D1284E	possibly damaging	Het
Cyp2c70	T	C	19: 40,168,931 (GRCm39)	T119A	probably benign	Het
Dennd6b	C	T	15: 89,072,890 (GRCm39)	C188Y	probably damaging	Het
Dhx8	T	A	11: 101,628,594 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,340,768 (GRCm39)	K624R	probably benign	Het
Dpys	C	T	15: 39,656,727 (GRCm39)	V447M	probably damaging	Het
E130308A19Rik	T	C	4: 59,753,004 (GRCm39)	S706P	possibly damaging	Het
Esrrb	A	G	12: 86,517,189 (GRCm39)	D107G	probably benign	Het
Frmd4a	T	C	2: 4,577,244 (GRCm39)	S367P	probably damaging	Het
Garin2	G	A	12: 78,766,408 (GRCm39)		probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm136	T	C	4: 34,746,628 (GRCm39)	I128V	probably benign	Het
Gm6525	T	A	3: 84,082,309 (GRCm39)	C77S	possibly damaging	Het
Grid2ip	T	C	5: 143,343,346 (GRCm39)	F14S	probably damaging	Het
Hdhd3	C	T	4: 62,418,152 (GRCm39)	R8H	probably damaging	Het
Kdelr1	C	A	7: 45,523,480 (GRCm39)	A69D	possibly damaging	Het
Krtap16-3	T	A	16: 88,759,560 (GRCm39)	Y51F	unknown	Het
Lrrc40	T	A	3: 157,747,276 (GRCm39)	N129K	probably benign	Het
Man1b1	T	A	2: 25,228,196 (GRCm39)	D155E	probably damaging	Het
Mcm5	T	C	8: 75,847,529 (GRCm39)	V442A	probably damaging	Het
Mfsd14a	C	T	3: 116,435,361 (GRCm39)	A235T	probably benign	Het
Mmp1a	C	A	9: 7,475,938 (GRCm39)	T401K	probably benign	Het
Mpig6b	C	T	17: 35,283,320 (GRCm39)	R196Q	unknown	Het
Mroh1	C	T	15: 76,292,657 (GRCm39)	Q262*	probably null	Het
Msh3	A	T	13: 92,410,619 (GRCm39)	D656E	possibly damaging	Het
Muc4	A	T	16: 32,577,465 (GRCm39)	T252S		Het
Myh15	C	T	16: 48,997,420 (GRCm39)	A1746V	possibly damaging	Het
Myh8	C	A	11: 67,169,879 (GRCm39)	T66K	probably benign	Het
Nemf	A	T	12: 69,359,241 (GRCm39)	Y999N	probably damaging	Het
Neurod1	T	C	2: 79,285,029 (GRCm39)	N118S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,100 (GRCm39)	I134L	possibly damaging	Het
Nsun7	A	T	5: 66,418,326 (GRCm39)	I19F	probably damaging	Het
Ofcc1	A	G	13: 40,157,442 (GRCm39)		probably null	Het
P2rx7	A	G	5: 122,811,856 (GRCm39)	E389G	probably damaging	Het
Pam	C	T	1: 97,826,072 (GRCm39)	R194H	probably benign	Het
Pcnt	A	G	10: 76,220,673 (GRCm39)	S2052P	probably benign	Het
Pfkfb4	T	A	9: 108,828,222 (GRCm39)	Y86N	probably benign	Het
Plcd3	T	A	11: 102,968,689 (GRCm39)	D334V	probably damaging	Het
Ppard	T	C	17: 28,517,787 (GRCm39)	V285A	possibly damaging	Het
Prune2	A	G	19: 17,097,966 (GRCm39)	S1157G	probably benign	Het
Psg21	A	T	7: 18,386,470 (GRCm39)	L172H	probably damaging	Het
Psme4	C	A	11: 30,800,661 (GRCm39)	T1417K	probably damaging	Het
Ptprc	T	C	1: 138,027,423 (GRCm39)	D336G	probably benign	Het
Ralgapa1	A	T	12: 55,837,095 (GRCm39)		probably null	Het
Rap1gap	C	A	4: 137,443,393 (GRCm39)		probably null	Het
Scap	T	C	9: 110,201,310 (GRCm39)	S100P	possibly damaging	Het
Scpep1	T	C	11: 88,820,011 (GRCm39)	I426V	possibly damaging	Het
Sdk1	T	C	5: 142,082,625 (GRCm39)	I1341T	probably damaging	Het
Sfmbt2	T	A	2: 10,584,000 (GRCm39)	Y786N	probably benign	Het
Sh3tc1	A	T	5: 35,859,358 (GRCm39)		probably null	Het
Slc5a5	T	A	8: 71,341,182 (GRCm39)	I386F	probably damaging	Het
Smarca4	T	G	9: 21,546,116 (GRCm39)	M98R	probably benign	Het
St18	G	A	1: 6,898,066 (GRCm39)	D623N	probably damaging	Het
Sult2a1	A	T	7: 13,549,978 (GRCm39)		probably null	Het
Tgfb2	C	T	1: 186,362,834 (GRCm39)	R330H	probably damaging	Het
Thoc3	A	G	13: 54,614,119 (GRCm39)	I168T	probably damaging	Het
Tmem126a	C	T	7: 90,100,062 (GRCm39)	M160I	possibly damaging	Het
Tmem200b	C	T	4: 131,649,704 (GRCm39)	P208L	probably benign	Het
Tnrc6c	T	C	11: 117,604,952 (GRCm39)	V29A	probably benign	Het
Tsc1	C	T	2: 28,565,744 (GRCm39)	S465F	probably benign	Het
Ttll5	A	G	12: 85,964,447 (GRCm39)		probably null	Het
Unc13d	G	T	11: 115,954,552 (GRCm39)	L1019I	probably damaging	Het
Vmn2r102	A	T	17: 19,914,670 (GRCm39)	H745L	probably damaging	Het
Wars2	T	G	3: 99,123,957 (GRCm39)	S273A	probably damaging	Het
Xrcc6	C	A	15: 81,919,955 (GRCm39)	S498*	probably null	Het
Ybx1	A	T	4: 119,140,050 (GRCm39)	N92K	possibly 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
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'- TTGGGCACATTTAATTGGTAAAGGC -3'
(R):5'- CTAACTTGGTCACACTTTCCTAAAG -3'

Sequencing Primer
(F):5'- CTGGTCTGAAGCATTTCTGA -3'
(R):5'- ATTTTGAGGGAGGGTCAAG -3'

Posted On

2019-05-15