Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Arhgap17'

383720

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

042560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123279218-123369915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123308360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 260 (R260G)

Ref Sequence

ENSEMBL: ENSMUSP00000145628 (fasta)

Gene Model

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

AlphaFold

Q3UIA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098060
AA Change: R260G

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766
AA Change: R260G

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

possibly damaging
Transcript: ENSMUST00000106442
AA Change: R260G

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
AA Change: R260G

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: R260G

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
AA Change: R260G

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: ENSMUST00000205262
AA Change: R260G

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000206117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206294

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207010
AA Change: R260G

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1885

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096	T418M	probably benign	Het
Atp1a3	T	C	7: 24,994,626	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,465,782	I768T	probably benign	Het
Dgke	A	G	11: 89,050,802	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611		probably null	Het
Dnajc3	C	A	14: 118,978,173	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461	D208G	probably benign	Het
Evc	C	T	5: 37,322,049		probably null	Het
Fam98a	A	G	17: 75,538,982	S285P	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380		probably null	Het
Gtpbp4	C	A	13: 8,985,217	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801		probably null	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858	S252R	probably damaging	Het
March8	G	A	6: 116,386,271		probably benign	Het
Mdn1	C	A	4: 32,756,512	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250		probably benign	Het
Mtpap	T	C	18: 4,375,638	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nle1	A	G	11: 82,904,937	V228A	probably benign	Het
Npy4r	T	A	14: 34,147,016	D105V	probably damaging	Het
Olfr1366	A	G	13: 21,537,982	Y8H	probably damaging	Het
Palld	C	T	8: 61,703,210	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708		probably null	Het
Rbm19	T	A	5: 120,141,566	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826	S215P	probably damaging	Het
Smyd2	A	T	1: 189,882,188	V381E	probably damaging	Het
Smyd4	C	T	11: 75,382,294	S60L	probably benign	Het
Spata18	T	A	5: 73,678,993	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,408,495	C439S	probably damaging	Het
Zfp709	A	G	8: 71,889,788	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110	I149N	probably damaging	Het

Other mutations in Arhgap17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Arhgap17	APN	7	123286568	utr 3 prime	probably benign
IGL02112:Arhgap17	APN	7	123318417	missense	possibly damaging	0.92
IGL02117:Arhgap17	APN	7	123286773	utr 3 prime	probably benign
IGL03062:Arhgap17	APN	7	123321874	splice site	probably null
gensing	UTSW	7	123314690	missense	probably damaging	1.00
Nightshade	UTSW	7	123327244	missense	probably damaging	1.00
tuberose	UTSW	7	123308377	missense	probably damaging	1.00
yam	UTSW	7	123306420	missense	probably damaging	1.00
P0028:Arhgap17	UTSW	7	123286677	utr 3 prime	probably benign
R0480:Arhgap17	UTSW	7	123294644	missense	probably damaging	0.98
R0593:Arhgap17	UTSW	7	123286743	utr 3 prime	probably benign
R0594:Arhgap17	UTSW	7	123294518	missense	probably benign	0.00
R0599:Arhgap17	UTSW	7	123303790	splice site	probably benign
R0751:Arhgap17	UTSW	7	123314690	missense	probably damaging	1.00
R1184:Arhgap17	UTSW	7	123314690	missense	probably damaging	1.00
R1791:Arhgap17	UTSW	7	123286702	missense	probably benign	0.23
R2036:Arhgap17	UTSW	7	123318494	missense	possibly damaging	0.92
R3428:Arhgap17	UTSW	7	123323631	missense	probably damaging	1.00
R4032:Arhgap17	UTSW	7	123280066	utr 3 prime	probably benign
R4119:Arhgap17	UTSW	7	123306994	missense	probably damaging	1.00
R4652:Arhgap17	UTSW	7	123286618	utr 3 prime	probably benign
R4687:Arhgap17	UTSW	7	123321603	missense	probably damaging	1.00
R4910:Arhgap17	UTSW	7	123308377	missense	probably damaging	1.00
R4960:Arhgap17	UTSW	7	123286926	utr 3 prime	probably benign
R5028:Arhgap17	UTSW	7	123294673	missense	probably benign	0.05
R5253:Arhgap17	UTSW	7	123303748	missense	probably benign	0.00
R5316:Arhgap17	UTSW	7	123296527	missense	possibly damaging	0.63
R5410:Arhgap17	UTSW	7	123297493	critical splice donor site	probably null
R5890:Arhgap17	UTSW	7	123286758	utr 3 prime	probably benign
R6367:Arhgap17	UTSW	7	123308363	makesense	probably null
R6376:Arhgap17	UTSW	7	123300504	missense	probably damaging	1.00
R6513:Arhgap17	UTSW	7	123292156	missense	possibly damaging	0.87
R6862:Arhgap17	UTSW	7	123321901	missense	probably damaging	0.98
R6962:Arhgap17	UTSW	7	123296432	missense	probably damaging	1.00
R7077:Arhgap17	UTSW	7	123280008	missense	unknown
R7178:Arhgap17	UTSW	7	123285358	splice site	probably null
R7205:Arhgap17	UTSW	7	123306438	missense	probably damaging	1.00
R7342:Arhgap17	UTSW	7	123327244	missense	probably damaging	1.00
R7524:Arhgap17	UTSW	7	123306420	missense	probably damaging	1.00
R7812:Arhgap17	UTSW	7	123280067	missense	unknown
R7901:Arhgap17	UTSW	7	123286568	utr 3 prime	probably benign
R7950:Arhgap17	UTSW	7	123286816	missense	probably benign	0.23
R7952:Arhgap17	UTSW	7	123286691	missense	probably benign	0.23
R8842:Arhgap17	UTSW	7	123294527	missense	probably benign	0.07
R9460:Arhgap17	UTSW	7	123280063	missense	unknown
R9630:Arhgap17	UTSW	7	123308317	missense	probably benign	0.02
R9766:Arhgap17	UTSW	7	123321925	missense	probably benign	0.27
RF009:Arhgap17	UTSW	7	123286862	small deletion	probably benign
RF015:Arhgap17	UTSW	7	123286862	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAAGGTTTGAAAGCCACTGG -3'
(R):5'- CAAAAGCTCACCAGATGTCTG -3'

Sequencing Primer
(F):5'- GGTTTGAAAGCCACTGGTCTATACC -3'
(R):5'- CAGATGTCTGGGTGTTTCTCTTCTC -3'

Posted On

2016-04-27