Mutagenetix > Incidental Mutation

Incidental Mutation 'R0480:Arhgap17'

41932

Institutional Source

Beutler Lab

Gene Symbol

Arhgap17

Ensembl Gene

ENSMUSG00000030766

Gene Name

Rho GTPase activating protein 17

Synonyms

Nadrin2, Nadrin, WBP15, 5730403H17Rik, Rich1

MMRRC Submission

038680-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0480 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

123279218-123369915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123294644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 518 (H518Y)

Ref Sequence

ENSEMBL: ENSMUSP00000102050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098060] [ENSMUST00000106442] [ENSMUST00000167309] [ENSMUST00000205262] [ENSMUST00000206117] [ENSMUST00000207010]

AlphaFold

Q3UIA2

Predicted Effect

probably benign
Transcript: ENSMUST00000098060

SMART Domains

Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766

Domain	Start	End	E-Value	Type
BAR	1	239	4.45e-65	SMART
RhoGAP	263	439	1.2e-60	SMART
low complexity region	554	595	N/A	INTRINSIC
low complexity region	624	640	N/A	INTRINSIC
low complexity region	644	664	N/A	INTRINSIC
low complexity region	683	704	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106442
AA Change: H518Y

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
AA Change: H518Y

Domain	Start	End	E-Value	Type
BAR	1	239	4.45e-65	SMART
RhoGAP	263	439	1.2e-60	SMART
low complexity region	542	557	N/A	INTRINSIC
low complexity region	570	582	N/A	INTRINSIC
low complexity region	632	673	N/A	INTRINSIC
low complexity region	702	718	N/A	INTRINSIC
low complexity region	722	742	N/A	INTRINSIC
low complexity region	761	782	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167309
AA Change: H518Y

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
AA Change: H518Y

Domain	Start	End	E-Value	Type
BAR	1	239	4.45e-65	SMART
RhoGAP	263	439	1.2e-60	SMART
low complexity region	542	557	N/A	INTRINSIC
low complexity region	570	582	N/A	INTRINSIC
low complexity region	632	673	N/A	INTRINSIC
low complexity region	702	718	N/A	INTRINSIC
low complexity region	722	742	N/A	INTRINSIC
low complexity region	761	782	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205785

Predicted Effect

probably benign
Transcript: ENSMUST00000206117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206294

Predicted Effect

probably benign
Transcript: ENSMUST00000207010

Meta Mutation Damage Score

0.0977

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (117/118)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,880,186 (GRCm38)	L165F	probably damaging	Het
Adamts18	A	G	8: 113,738,818 (GRCm38)	V714A	possibly damaging	Het
Adamtsl1	G	T	4: 86,252,818 (GRCm38)	A518S	probably benign	Het
Adcy2	C	T	13: 68,732,112 (GRCm38)	V363M	probably damaging	Het
Ago4	G	T	4: 126,526,077 (GRCm38)	Q36K	probably benign	Het
Akr1a1	A	G	4: 116,639,847 (GRCm38)	V172A	possibly damaging	Het
Alkbh2	T	A	5: 114,125,535 (GRCm38)	N137I	probably damaging	Het
Ank3	T	A	10: 69,879,926 (GRCm38)	S470T	probably damaging	Het
Ankrd12	T	C	17: 66,049,828 (GRCm38)	T65A	possibly damaging	Het
Aox1	A	T	1: 58,043,651 (GRCm38)		probably benign	Het
Arhgap11a	A	T	2: 113,839,818 (GRCm38)	I320N	probably benign	Het
Ascc3	T	C	10: 50,735,252 (GRCm38)	V1563A	probably damaging	Het
Atf2	G	A	2: 73,819,156 (GRCm38)		probably benign	Het
Bmpr2	C	T	1: 59,845,659 (GRCm38)	T268I	probably damaging	Het
Bpifb9a	A	G	2: 154,264,688 (GRCm38)	I380V	probably benign	Het
C2cd2	G	A	16: 97,877,148 (GRCm38)	T363I	probably benign	Het
Catsperg2	T	G	7: 29,721,298 (GRCm38)	N190H	probably damaging	Het
Ccdc138	T	C	10: 58,561,967 (GRCm38)	L543S	probably damaging	Het
Ccdc170	A	T	10: 4,518,939 (GRCm38)	K162N	probably benign	Het
Cdca5	G	T	19: 6,090,298 (GRCm38)	R163L	probably damaging	Het
Cdh24	A	G	14: 54,632,597 (GRCm38)	F239S	probably benign	Het
Cdkl3	T	C	11: 52,005,055 (GRCm38)	V43A	probably damaging	Het
Cep152	G	T	2: 125,581,719 (GRCm38)	Q921K	possibly damaging	Het
Cftr	G	A	6: 18,274,518 (GRCm38)		probably benign	Het
Chmp5	T	C	4: 40,948,690 (GRCm38)		probably benign	Het
Cit	T	A	5: 115,933,393 (GRCm38)		probably benign	Het
Cngb3	T	A	4: 19,309,517 (GRCm38)		probably benign	Het
Cnr2	A	G	4: 135,917,601 (GRCm38)	E330G	probably benign	Het
Cyp21a1	A	T	17: 34,801,826 (GRCm38)	L473Q	probably damaging	Het
Dchs1	T	C	7: 105,771,489 (GRCm38)	T575A	probably benign	Het
Dedd2	A	G	7: 25,203,625 (GRCm38)	V303A	probably damaging	Het
Dmd	G	T	X: 84,425,738 (GRCm38)	A2370S	probably benign	Het
Dnah10	T	A	5: 124,808,851 (GRCm38)	N3009K	probably damaging	Het
Dnajc13	G	T	9: 104,200,509 (GRCm38)	N934K	probably damaging	Het
Dock1	C	T	7: 134,737,718 (GRCm38)	L106F	probably damaging	Het
Fat3	A	G	9: 15,997,729 (GRCm38)	Y2326H	probably benign	Het
Fhl5	A	T	4: 25,207,101 (GRCm38)	C222*	probably null	Het
Gm10639	C	T	9: 78,302,817 (GRCm38)	A135V	probably benign	Het
Gm1840	A	G	8: 5,639,888 (GRCm38)		noncoding transcript	Het
Gnmt	T	C	17: 46,725,928 (GRCm38)	T252A	probably benign	Het
Gtf2f1	A	G	17: 57,004,307 (GRCm38)		probably null	Het
Gtf3a	T	C	5: 146,953,229 (GRCm38)	Y187H	probably damaging	Het
Hdac2	A	G	10: 36,974,792 (GRCm38)	Y14C	probably damaging	Het
Hnrnph1	T	G	11: 50,385,762 (GRCm38)		probably benign	Het
Homer2	T	C	7: 81,618,603 (GRCm38)	D92G	possibly damaging	Het
Hspg2	T	C	4: 137,550,024 (GRCm38)	S2885P	probably damaging	Het
Insr	A	G	8: 3,161,770 (GRCm38)	S1084P	probably damaging	Het
Ints11	T	A	4: 155,887,624 (GRCm38)	V362E	probably damaging	Het
Kank2	T	C	9: 21,779,899 (GRCm38)	N513S	probably damaging	Het
Kdelc1	C	T	1: 44,110,757 (GRCm38)	W424*	probably null	Het
Kl	T	G	5: 150,953,288 (GRCm38)	V191G	probably damaging	Het
Krt23	A	G	11: 99,486,698 (GRCm38)		probably null	Het
Lama3	A	C	18: 12,450,424 (GRCm38)	T690P	possibly damaging	Het
Lamb1	G	A	12: 31,282,721 (GRCm38)	A281T	possibly damaging	Het
Lck	T	C	4: 129,555,640 (GRCm38)	E299G	probably damaging	Het
Lonrf1	A	G	8: 36,222,710 (GRCm38)	V703A	probably damaging	Het
Ly6f	T	C	15: 75,271,677 (GRCm38)	C78R	probably damaging	Het
Mapkap1	C	T	2: 34,533,781 (GRCm38)		probably benign	Het
Mast1	T	A	8: 84,913,089 (GRCm38)	I1204F	probably damaging	Het
Mbd6	C	T	10: 127,285,873 (GRCm38)		probably benign	Het
Mef2c	A	T	13: 83,592,901 (GRCm38)	T60S	probably damaging	Het
Mgat4c	C	T	10: 102,389,119 (GRCm38)	T398I	probably damaging	Het
Mmp12	C	A	9: 7,350,016 (GRCm38)	H102Q	probably damaging	Het
Mmp20	G	A	9: 7,645,373 (GRCm38)	G308E	probably damaging	Het
Mms19	A	T	19: 41,954,846 (GRCm38)	L395Q	probably damaging	Het
Mus81	A	G	19: 5,487,931 (GRCm38)		probably benign	Het
Mypn	C	T	10: 63,193,203 (GRCm38)	R27H	probably benign	Het
Nav3	T	C	10: 109,853,300 (GRCm38)	E372G	probably damaging	Het
Ncoa1	T	A	12: 4,339,105 (GRCm38)	I57F	probably damaging	Het
Ncstn	T	C	1: 172,082,592 (GRCm38)		probably benign	Het
Nefm	C	T	14: 68,124,159 (GRCm38)	D219N	probably damaging	Het
Notch2	C	T	3: 98,146,537 (GRCm38)	T2172I	possibly damaging	Het
Obscn	T	A	11: 59,133,946 (GRCm38)	K423*	probably null	Het
Olfr1164	A	C	2: 88,093,628 (GRCm38)	S103A	probably benign	Het
Olfr173	T	C	16: 58,797,321 (GRCm38)	N175S	probably benign	Het
Olfr459	A	T	6: 41,772,264 (GRCm38)	C12S	probably benign	Het
Olfr606	A	G	7: 103,451,628 (GRCm38)	N97S	probably benign	Het
Ostm1	T	A	10: 42,696,347 (GRCm38)	M242K	probably damaging	Het
Oxnad1	T	A	14: 32,099,480 (GRCm38)	I154N	probably damaging	Het
Pcdhb10	T	A	18: 37,413,099 (GRCm38)	D409E	probably damaging	Het
Pdcd11	T	C	19: 47,125,037 (GRCm38)		probably benign	Het
Peak1	C	A	9: 56,258,632 (GRCm38)	V671L	probably benign	Het
Pex1	G	A	5: 3,606,444 (GRCm38)		probably null	Het
Plk4	T	A	3: 40,805,640 (GRCm38)	F324I	probably benign	Het
Ppfibp1	C	A	6: 147,019,031 (GRCm38)		probably null	Het
Prcp	T	A	7: 92,919,082 (GRCm38)	W276R	probably damaging	Het
Prr14l	T	C	5: 32,829,880 (GRCm38)	E757G	probably benign	Het
Prss52	T	A	14: 64,113,644 (GRCm38)	Y293N	probably damaging	Het
Prune2	A	G	19: 17,006,792 (GRCm38)		probably benign	Het
Ptprk	G	C	10: 28,585,947 (GRCm38)	A84P	probably damaging	Het
Ptprk	C	T	10: 28,585,948 (GRCm38)	A84V	probably damaging	Het
Rock1	A	G	18: 10,079,120 (GRCm38)	L1116P	possibly damaging	Het
Sdha	A	T	13: 74,327,333 (GRCm38)	F526Y	probably benign	Het
Sema4b	T	C	7: 80,220,206 (GRCm38)	F414S	probably damaging	Het
Serpina12	T	C	12: 104,035,701 (GRCm38)	D252G	probably damaging	Het
Siglecg	C	T	7: 43,411,126 (GRCm38)	A310V	probably benign	Het
Slc30a8	A	G	15: 52,325,570 (GRCm38)	I194V	probably benign	Het
Spred3	A	G	7: 29,162,975 (GRCm38)	S148P	probably damaging	Het
Taf9b	A	G	X: 106,218,408 (GRCm38)	S58P	probably damaging	Het
Tgm4	A	T	9: 123,062,419 (GRCm38)	Y109F	probably benign	Het
Tmprss11c	T	G	5: 86,237,609 (GRCm38)		probably benign	Het
Tmtc3	A	T	10: 100,471,404 (GRCm38)	V246D	probably damaging	Het
Tnip1	C	T	11: 54,937,994 (GRCm38)	G116R	probably damaging	Het
Tpr	A	G	1: 150,428,241 (GRCm38)	E1455G	possibly damaging	Het
Ttc3	T	A	16: 94,432,004 (GRCm38)	L986*	probably null	Het
Txndc15	A	G	13: 55,724,623 (GRCm38)	I275V	possibly damaging	Het
Ugt2b1	T	A	5: 86,926,456 (GRCm38)	I15L	probably benign	Het
Upf2	T	C	2: 5,957,634 (GRCm38)	V49A	possibly damaging	Het
Vmn1r117	G	A	7: 20,883,446 (GRCm38)	P226S	probably benign	Het
Vmn2r28	A	T	7: 5,490,457 (GRCm38)	H163Q	probably benign	Het
Vstm2a	T	A	11: 16,263,240 (GRCm38)	S208R	probably damaging	Het
Zfp346	T	A	13: 55,113,097 (GRCm38)	C79*	probably null	Het
Zfp628	A	T	7: 4,921,616 (GRCm38)	T946S	probably benign	Het

Other mutations in Arhgap17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Arhgap17	APN	7	123,286,568 (GRCm38)	utr 3 prime	probably benign
IGL02112:Arhgap17	APN	7	123,318,417 (GRCm38)	missense	possibly damaging	0.92
IGL02117:Arhgap17	APN	7	123,286,773 (GRCm38)	utr 3 prime	probably benign
IGL03062:Arhgap17	APN	7	123,321,874 (GRCm38)	splice site	probably null
gensing	UTSW	7	123,314,690 (GRCm38)	missense	probably damaging	1.00
Nightshade	UTSW	7	123,327,244 (GRCm38)	missense	probably damaging	1.00
tuberose	UTSW	7	123,308,377 (GRCm38)	missense	probably damaging	1.00
yam	UTSW	7	123,306,420 (GRCm38)	missense	probably damaging	1.00
P0028:Arhgap17	UTSW	7	123,286,677 (GRCm38)	utr 3 prime	probably benign
R0593:Arhgap17	UTSW	7	123,286,743 (GRCm38)	utr 3 prime	probably benign
R0594:Arhgap17	UTSW	7	123,294,518 (GRCm38)	missense	probably benign	0.00
R0599:Arhgap17	UTSW	7	123,303,790 (GRCm38)	splice site	probably benign
R0751:Arhgap17	UTSW	7	123,314,690 (GRCm38)	missense	probably damaging	1.00
R1184:Arhgap17	UTSW	7	123,314,690 (GRCm38)	missense	probably damaging	1.00
R1791:Arhgap17	UTSW	7	123,286,702 (GRCm38)	missense	probably benign	0.23
R2036:Arhgap17	UTSW	7	123,318,494 (GRCm38)	missense	possibly damaging	0.92
R3428:Arhgap17	UTSW	7	123,323,631 (GRCm38)	missense	probably damaging	1.00
R4032:Arhgap17	UTSW	7	123,280,066 (GRCm38)	utr 3 prime	probably benign
R4119:Arhgap17	UTSW	7	123,306,994 (GRCm38)	missense	probably damaging	1.00
R4652:Arhgap17	UTSW	7	123,286,618 (GRCm38)	utr 3 prime	probably benign
R4687:Arhgap17	UTSW	7	123,321,603 (GRCm38)	missense	probably damaging	1.00
R4910:Arhgap17	UTSW	7	123,308,377 (GRCm38)	missense	probably damaging	1.00
R4960:Arhgap17	UTSW	7	123,286,926 (GRCm38)	utr 3 prime	probably benign
R4963:Arhgap17	UTSW	7	123,308,360 (GRCm38)	missense	possibly damaging	0.91
R5028:Arhgap17	UTSW	7	123,294,673 (GRCm38)	missense	probably benign	0.05
R5253:Arhgap17	UTSW	7	123,303,748 (GRCm38)	missense	probably benign	0.00
R5316:Arhgap17	UTSW	7	123,296,527 (GRCm38)	missense	possibly damaging	0.63
R5410:Arhgap17	UTSW	7	123,297,493 (GRCm38)	critical splice donor site	probably null
R5890:Arhgap17	UTSW	7	123,286,758 (GRCm38)	utr 3 prime	probably benign
R6367:Arhgap17	UTSW	7	123,308,363 (GRCm38)	makesense	probably null
R6376:Arhgap17	UTSW	7	123,300,504 (GRCm38)	missense	probably damaging	1.00
R6513:Arhgap17	UTSW	7	123,292,156 (GRCm38)	missense	possibly damaging	0.87
R6862:Arhgap17	UTSW	7	123,321,901 (GRCm38)	missense	probably damaging	0.98
R6962:Arhgap17	UTSW	7	123,296,432 (GRCm38)	missense	probably damaging	1.00
R7077:Arhgap17	UTSW	7	123,280,008 (GRCm38)	missense	unknown
R7178:Arhgap17	UTSW	7	123,285,358 (GRCm38)	splice site	probably null
R7205:Arhgap17	UTSW	7	123,306,438 (GRCm38)	missense	probably damaging	1.00
R7342:Arhgap17	UTSW	7	123,327,244 (GRCm38)	missense	probably damaging	1.00
R7524:Arhgap17	UTSW	7	123,306,420 (GRCm38)	missense	probably damaging	1.00
R7812:Arhgap17	UTSW	7	123,280,067 (GRCm38)	missense	unknown
R7901:Arhgap17	UTSW	7	123,286,568 (GRCm38)	utr 3 prime	probably benign
R7950:Arhgap17	UTSW	7	123,286,816 (GRCm38)	missense	probably benign	0.23
R7952:Arhgap17	UTSW	7	123,286,691 (GRCm38)	missense	probably benign	0.23
R8842:Arhgap17	UTSW	7	123,294,527 (GRCm38)	missense	probably benign	0.07
R9460:Arhgap17	UTSW	7	123,280,063 (GRCm38)	missense	unknown
R9630:Arhgap17	UTSW	7	123,308,317 (GRCm38)	missense	probably benign	0.02
R9766:Arhgap17	UTSW	7	123,321,925 (GRCm38)	missense	probably benign	0.27
RF009:Arhgap17	UTSW	7	123,286,862 (GRCm38)	small deletion	probably benign
RF015:Arhgap17	UTSW	7	123,286,862 (GRCm38)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGCTCCAATATGCCCGTAGAAG -3'
(R):5'- ACTGTGTCACTCGACATGAGGCTG -3'

Sequencing Primer
(F):5'- CTCCAATATGCCCGTAGAAGAGAAG -3'
(R):5'- CTTTGCTAGGGTTCAAAGCCAG -3'

Posted On

2013-05-23