Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01092:Arhgap33'

51505

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap33

Ensembl Gene

ENSMUSG00000036882

Gene Name

Rho GTPase activating protein 33

Synonyms

Snx26, NOMA-GAP, Tcgap

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

IGL01092

Quality Score

Status

Chromosome

Chromosomal Location

30522226-30535060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30529946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 335 (R335G)

Ref Sequence

ENSEMBL: ENSMUSP00000146767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044338] [ENSMUST00000207858] [ENSMUST00000207860] [ENSMUST00000208491] [ENSMUST00000208522] [ENSMUST00000208538]

AlphaFold

Q80YF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044338
AA Change: R335G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882
AA Change: R335G

Domain	Start	End	E-Value	Type
low complexity region	45	58	N/A	INTRINSIC
SH3	213	271	5.32e-12	SMART
low complexity region	318	335	N/A	INTRINSIC
RhoGAP	350	531	4.05e-67	SMART
low complexity region	582	595	N/A	INTRINSIC
low complexity region	597	609	N/A	INTRINSIC
low complexity region	675	686	N/A	INTRINSIC
low complexity region	694	733	N/A	INTRINSIC
low complexity region	770	798	N/A	INTRINSIC
low complexity region	832	850	N/A	INTRINSIC
low complexity region	894	940	N/A	INTRINSIC
low complexity region	979	988	N/A	INTRINSIC
low complexity region	1076	1086	N/A	INTRINSIC
low complexity region	1158	1166	N/A	INTRINSIC
low complexity region	1194	1216	N/A	INTRINSIC
low complexity region	1284	1291	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207637

Predicted Effect

probably damaging
Transcript: ENSMUST00000207858
AA Change: R311G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207860
AA Change: R335G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000208491

Predicted Effect

probably benign
Transcript: ENSMUST00000208522

Predicted Effect

probably damaging
Transcript: ENSMUST00000208538
AA Change: R335G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208723

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display region specific thinning of the cerebral cortex with reduced dendritic complexity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2b	C	T	12: 5,017,987	S995L	probably damaging	Het
Atrn	A	T	2: 130,947,636	R340*	probably null	Het
Ccdc83	A	T	7: 90,247,105	D85E	probably benign	Het
Chd2	A	T	7: 73,441,686	H1602Q	possibly damaging	Het
Cog2	A	G	8: 124,545,280	D511G	probably damaging	Het
Col4a4	G	T	1: 82,466,545	P1334T	unknown	Het
Creb3l4	T	C	3: 90,237,738	E369G	probably damaging	Het
Crnkl1	T	C	2: 145,919,948	K563R	probably benign	Het
Dbi	T	C	1: 120,113,477	K131E	probably benign	Het
Edn1	A	G	13: 42,303,671	D60G	probably damaging	Het
Erbin	T	C	13: 103,834,012	N1032S	probably damaging	Het
Ero1l	T	C	14: 45,303,586	D107G	probably benign	Het
Glmn	A	T	5: 107,578,512		probably null	Het
Grxcr1	T	C	5: 68,110,562		probably benign	Het
Itih3	T	A	14: 30,909,781	K593I	probably damaging	Het
Kmt2b	T	C	7: 30,580,507	Y1356C	probably damaging	Het
Lrp1b	C	T	2: 40,750,947	C3495Y	probably damaging	Het
Map3k13	A	T	16: 21,928,016	T950S	probably damaging	Het
Me1	A	T	9: 86,598,748	V348D	probably damaging	Het
Morc2a	T	C	11: 3,684,042	V718A	probably benign	Het
Myh7	T	C	14: 54,971,632	E1883G	possibly damaging	Het
Olfr1338	T	A	4: 118,753,762	I259F	possibly damaging	Het
Olfr913	T	G	9: 38,594,905	I228R	probably damaging	Het
Pdcd6ip	A	G	9: 113,680,181		probably benign	Het
Plcb3	T	A	19: 6,955,322	E1025V	probably benign	Het
Ppp1r26	C	T	2: 28,453,860		probably benign	Het
Prkd1	T	C	12: 50,383,515		probably benign	Het
Rwdd4a	C	T	8: 47,544,112	T122M	possibly damaging	Het
Sdhb	T	G	4: 140,977,480	C251G	probably damaging	Het
Siglec1	A	T	2: 131,079,217	I678N	probably damaging	Het
Snrnp70	T	C	7: 45,377,377	D215G	probably damaging	Het
Ston1	A	G	17: 88,644,443	E674G	probably benign	Het
Tbl3	A	T	17: 24,705,252	I177N	probably damaging	Het
Tbl3	T	C	17: 24,701,905		probably benign	Het
Tnrc6c	T	C	11: 117,721,985	V483A	probably damaging	Het

Other mutations in Arhgap33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02176:Arhgap33	APN	7	30524051	missense	possibly damaging	0.76
IGL02430:Arhgap33	APN	7	30522760	missense	probably benign	0.07
IGL03091:Arhgap33	APN	7	30528293	missense	probably damaging	1.00
R0276:Arhgap33	UTSW	7	30523244	missense	probably benign	0.01
R0494:Arhgap33	UTSW	7	30524496	missense	probably damaging	0.98
R0597:Arhgap33	UTSW	7	30526446	missense	probably damaging	1.00
R0717:Arhgap33	UTSW	7	30528349	missense	probably damaging	1.00
R1661:Arhgap33	UTSW	7	30532323	missense	probably damaging	1.00
R1761:Arhgap33	UTSW	7	30533063	splice site	probably null
R1882:Arhgap33	UTSW	7	30522809	missense	probably damaging	1.00
R2161:Arhgap33	UTSW	7	30528650	splice site	probably null
R2566:Arhgap33	UTSW	7	30527229	missense	probably damaging	1.00
R4353:Arhgap33	UTSW	7	30524136	missense	possibly damaging	0.95
R4552:Arhgap33	UTSW	7	30519108	unclassified	probably benign
R4778:Arhgap33	UTSW	7	30532093	missense	probably benign
R4887:Arhgap33	UTSW	7	30532192	missense	probably damaging	0.99
R4957:Arhgap33	UTSW	7	30532361	missense	probably damaging	0.96
R5001:Arhgap33	UTSW	7	30533016	missense	possibly damaging	0.95
R5140:Arhgap33	UTSW	7	30528301	missense	probably damaging	1.00
R5585:Arhgap33	UTSW	7	30523835	missense	probably benign	0.00
R5704:Arhgap33	UTSW	7	30519620	unclassified	probably benign
R5805:Arhgap33	UTSW	7	30526414	missense	probably benign	0.01
R6476:Arhgap33	UTSW	7	30524412	missense	probably damaging	0.99
R6485:Arhgap33	UTSW	7	30524004	missense	probably benign
R6572:Arhgap33	UTSW	7	30527210	missense	probably damaging	1.00
R7183:Arhgap33	UTSW	7	30525871	splice site	probably null
R7205:Arhgap33	UTSW	7	30533009	missense	probably damaging	0.99
R7241:Arhgap33	UTSW	7	30528721	missense	probably damaging	1.00
R7259:Arhgap33	UTSW	7	30532200	missense	probably damaging	1.00
R7319:Arhgap33	UTSW	7	30526369	missense	probably benign
R7384:Arhgap33	UTSW	7	30527271	missense	probably damaging	1.00
R7412:Arhgap33	UTSW	7	30523052	missense	probably benign	0.00
R7693:Arhgap33	UTSW	7	30526112	critical splice donor site	probably null
R7747:Arhgap33	UTSW	7	30524135	missense	probably damaging	0.98
R7893:Arhgap33	UTSW	7	30528776	missense	probably benign	0.34
R7915:Arhgap33	UTSW	7	30523223	missense	probably benign	0.08
R8819:Arhgap33	UTSW	7	30528740	missense	probably benign	0.09
R8820:Arhgap33	UTSW	7	30528740	missense	probably benign	0.09
R8912:Arhgap33	UTSW	7	30533042	splice site	probably benign
R8922:Arhgap33	UTSW	7	30523992	missense	probably damaging	0.99
R9211:Arhgap33	UTSW	7	30523598	missense	possibly damaging	0.94
X0034:Arhgap33	UTSW	7	30524449	small deletion	probably benign
Z1176:Arhgap33	UTSW	7	30522717	missense	probably benign	0.13
Z1177:Arhgap33	UTSW	7	30522817	missense	probably damaging	1.00
Z1186:Arhgap33	UTSW	7	30523651	missense	possibly damaging	0.72
Z1186:Arhgap33	UTSW	7	30524435	missense	probably benign
Z1186:Arhgap33	UTSW	7	30524479	small insertion	probably benign

Posted On

2013-06-21