Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Arhgap33'

568543

Institutional Source

Beutler Lab

Gene Symbol

Arhgap33

Ensembl Gene

ENSMUSG00000036882

Gene Name

Rho GTPase activating protein 33

Synonyms

Snx26, Tcgap, NOMA-GAP

MMRRC Submission

045235-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30221651-30234485 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 30225296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146766 (fasta)

Gene Model

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

AlphaFold

Q80YF9

Predicted Effect

probably benign
Transcript: ENSMUST00000044338

SMART Domains

Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882

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

probably benign
Transcript: ENSMUST00000207858

Predicted Effect

probably benign
Transcript: ENSMUST00000207860

Predicted Effect

probably null
Transcript: ENSMUST00000208522

Predicted Effect

probably benign
Transcript: ENSMUST00000208538

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,706 (GRCm39)	M816L	possibly damaging	Het
Ahnak	T	C	19: 8,995,032 (GRCm39)	F5439L	probably damaging	Het
Apba2	G	A	7: 64,383,293 (GRCm39)	D369N	probably benign	Het
Arhgap32	A	G	9: 32,097,679 (GRCm39)	N228D	probably benign	Het
Cacna1g	C	T	11: 94,330,563 (GRCm39)	C984Y	probably benign	Het
Cadm2	C	A	16: 66,679,720 (GRCm39)	G47*	probably null	Het
Ccdc125	A	G	13: 100,826,866 (GRCm39)	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,868,620 (GRCm39)	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc42bpg	A	G	19: 6,360,827 (GRCm39)	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,795,706 (GRCm39)	R275G	probably damaging	Het
Chst4	T	C	8: 110,756,630 (GRCm39)	N411S	possibly damaging	Het
Cir1	A	G	2: 73,116,730 (GRCm39)	V210A	probably damaging	Het
Col6a1	A	G	10: 76,552,093 (GRCm39)		probably null	Het
Crmp1	C	A	5: 37,446,161 (GRCm39)	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,367,418 (GRCm39)	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,097,990 (GRCm39)	Q677L	unknown	Het
Dnah17	G	A	11: 118,020,014 (GRCm39)	T11I	probably benign	Het
Ehd1	A	G	19: 6,347,684 (GRCm39)	H346R	probably benign	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Emc3	G	T	6: 113,508,345 (GRCm39)	Y33*	probably null	Het
Ercc5	A	T	1: 44,200,968 (GRCm39)		probably null	Het
Ercc5	G	T	1: 44,200,969 (GRCm39)		probably null	Het
Fat3	A	C	9: 15,834,133 (GRCm39)	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,312,431 (GRCm39)		probably null	Het
Gmnc	C	T	16: 26,779,279 (GRCm39)	D249N	probably benign	Het
Gsn	C	T	2: 35,184,960 (GRCm39)	A305V	probably benign	Het
Haus6	A	T	4: 86,501,989 (GRCm39)	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,558,920 (GRCm39)		probably null	Het
Hoxd9	G	T	2: 74,528,709 (GRCm39)	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,609,200 (GRCm39)	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,436 (GRCm39)	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,722,469 (GRCm39)	V386M	probably damaging	Het
Masp2	A	G	4: 148,696,614 (GRCm39)	S404G	probably benign	Het
Or5b102	A	G	19: 13,041,680 (GRCm39)	I302V	probably benign	Het
Or5m12	T	A	2: 85,734,486 (GRCm39)	Q304L	probably benign	Het
Or7g20	G	T	9: 18,946,628 (GRCm39)	D70Y	probably damaging	Het
P4htm	A	T	9: 108,459,059 (GRCm39)	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,121,538 (GRCm39)	S49P	probably benign	Het
Pdzd7	A	G	19: 45,025,553 (GRCm39)	V314A	probably benign	Het
Pfkl	G	A	10: 77,837,916 (GRCm39)	R31*	probably null	Het
Phlpp2	C	A	8: 110,666,585 (GRCm39)	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 132,994,203 (GRCm39)	S56P	probably benign	Het
Plec	A	G	15: 76,089,905 (GRCm39)	V145A	unknown	Het
Prg3	G	A	2: 84,821,848 (GRCm39)	V158I	probably benign	Het
Prg3	G	T	2: 84,823,367 (GRCm39)	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,677,161 (GRCm39)	T370A	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,287,066 (GRCm39)	M578K	probably damaging	Het
Siae	G	A	9: 37,528,242 (GRCm39)	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,660,511 (GRCm39)	D1864E	probably benign	Het
Smox	T	C	2: 131,362,486 (GRCm39)	I255T	possibly damaging	Het
Spata31e2	G	A	1: 26,721,914 (GRCm39)	L1089F	probably benign	Het
Tas2r123	A	G	6: 132,824,661 (GRCm39)	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,910,378 (GRCm39)	I74F	possibly damaging	Het
Timm44	T	C	8: 4,317,311 (GRCm39)	D238G	probably damaging	Het
Tlk2	T	C	11: 105,112,185 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,931,365 (GRCm39)	S782P	probably damaging	Het
Tpr	A	T	1: 150,282,302 (GRCm39)	K336N	probably damaging	Het
Uggt2	A	T	14: 119,257,049 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,440 (GRCm39)	I812N	probably damaging	Het
Vps33a	T	C	5: 123,673,278 (GRCm39)	Q436R	probably null	Het
Ywhaq	T	C	12: 21,466,870 (GRCm39)	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,665,593 (GRCm39)	S290P	probably damaging	Het

Other mutations in Arhgap33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Arhgap33	APN	7	30,229,371 (GRCm39)	missense	probably damaging	0.99
IGL02176:Arhgap33	APN	7	30,223,476 (GRCm39)	missense	possibly damaging	0.76
IGL02430:Arhgap33	APN	7	30,222,185 (GRCm39)	missense	probably benign	0.07
IGL03091:Arhgap33	APN	7	30,227,718 (GRCm39)	missense	probably damaging	1.00
R0276:Arhgap33	UTSW	7	30,222,669 (GRCm39)	missense	probably benign	0.01
R0494:Arhgap33	UTSW	7	30,223,921 (GRCm39)	missense	probably damaging	0.98
R0597:Arhgap33	UTSW	7	30,225,871 (GRCm39)	missense	probably damaging	1.00
R0717:Arhgap33	UTSW	7	30,227,774 (GRCm39)	missense	probably damaging	1.00
R1661:Arhgap33	UTSW	7	30,231,748 (GRCm39)	missense	probably damaging	1.00
R1761:Arhgap33	UTSW	7	30,232,488 (GRCm39)	splice site	probably null
R1882:Arhgap33	UTSW	7	30,222,234 (GRCm39)	missense	probably damaging	1.00
R2161:Arhgap33	UTSW	7	30,228,075 (GRCm39)	splice site	probably null
R2566:Arhgap33	UTSW	7	30,226,654 (GRCm39)	missense	probably damaging	1.00
R4353:Arhgap33	UTSW	7	30,223,561 (GRCm39)	missense	possibly damaging	0.95
R4552:Arhgap33	UTSW	7	30,218,533 (GRCm39)	unclassified	probably benign
R4778:Arhgap33	UTSW	7	30,231,518 (GRCm39)	missense	probably benign
R4887:Arhgap33	UTSW	7	30,231,617 (GRCm39)	missense	probably damaging	0.99
R4957:Arhgap33	UTSW	7	30,231,786 (GRCm39)	missense	probably damaging	0.96
R5001:Arhgap33	UTSW	7	30,232,441 (GRCm39)	missense	possibly damaging	0.95
R5140:Arhgap33	UTSW	7	30,227,726 (GRCm39)	missense	probably damaging	1.00
R5585:Arhgap33	UTSW	7	30,223,260 (GRCm39)	missense	probably benign	0.00
R5704:Arhgap33	UTSW	7	30,219,045 (GRCm39)	unclassified	probably benign
R5805:Arhgap33	UTSW	7	30,225,839 (GRCm39)	missense	probably benign	0.01
R6476:Arhgap33	UTSW	7	30,223,837 (GRCm39)	missense	probably damaging	0.99
R6485:Arhgap33	UTSW	7	30,223,429 (GRCm39)	missense	probably benign
R6572:Arhgap33	UTSW	7	30,226,635 (GRCm39)	missense	probably damaging	1.00
R7205:Arhgap33	UTSW	7	30,232,434 (GRCm39)	missense	probably damaging	0.99
R7241:Arhgap33	UTSW	7	30,228,146 (GRCm39)	missense	probably damaging	1.00
R7259:Arhgap33	UTSW	7	30,231,625 (GRCm39)	missense	probably damaging	1.00
R7319:Arhgap33	UTSW	7	30,225,794 (GRCm39)	missense	probably benign
R7384:Arhgap33	UTSW	7	30,226,696 (GRCm39)	missense	probably damaging	1.00
R7412:Arhgap33	UTSW	7	30,222,477 (GRCm39)	missense	probably benign	0.00
R7693:Arhgap33	UTSW	7	30,225,537 (GRCm39)	critical splice donor site	probably null
R7747:Arhgap33	UTSW	7	30,223,560 (GRCm39)	missense	probably damaging	0.98
R7893:Arhgap33	UTSW	7	30,228,201 (GRCm39)	missense	probably benign	0.34
R7915:Arhgap33	UTSW	7	30,222,648 (GRCm39)	missense	probably benign	0.08
R8819:Arhgap33	UTSW	7	30,228,165 (GRCm39)	missense	probably benign	0.09
R8820:Arhgap33	UTSW	7	30,228,165 (GRCm39)	missense	probably benign	0.09
R8912:Arhgap33	UTSW	7	30,232,467 (GRCm39)	splice site	probably benign
R8922:Arhgap33	UTSW	7	30,223,417 (GRCm39)	missense	probably damaging	0.99
R9211:Arhgap33	UTSW	7	30,223,023 (GRCm39)	missense	possibly damaging	0.94
R9616:Arhgap33	UTSW	7	30,229,367 (GRCm39)	missense	probably damaging	0.99
R9755:Arhgap33	UTSW	7	30,227,926 (GRCm39)	missense	possibly damaging	0.91
R9762:Arhgap33	UTSW	7	30,230,950 (GRCm39)	missense	probably null	1.00
X0034:Arhgap33	UTSW	7	30,223,874 (GRCm39)	small deletion	probably benign
Z1176:Arhgap33	UTSW	7	30,222,142 (GRCm39)	missense	probably benign	0.13
Z1177:Arhgap33	UTSW	7	30,222,242 (GRCm39)	missense	probably damaging	1.00
Z1186:Arhgap33	UTSW	7	30,223,904 (GRCm39)	small insertion	probably benign
Z1186:Arhgap33	UTSW	7	30,223,860 (GRCm39)	missense	probably benign
Z1186:Arhgap33	UTSW	7	30,223,076 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CACCTAAGGCCTTGGTTTTAAAAG -3'
(R):5'- TACTCCTCCTTACAGGCAGC -3'

Sequencing Primer
(F):5'- AGTTTGAATCCCACCAGGCTG -3'
(R):5'- TCCTTACAGGCAGCAGACCTG -3'

Posted On

2019-08-19