Mutagenetix > Incidental Mutation

Incidental Mutation 'R0597:Arhgap33'

55120

Institutional Source

Beutler Lab

Gene Symbol

Arhgap33

Ensembl Gene

ENSMUSG00000036882

Gene Name

Rho GTPase activating protein 33

Synonyms

Snx26, Tcgap, NOMA-GAP

MMRRC Submission

038786-MU

Accession Numbers

Essential gene?

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

Stock #

R0597 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

30221651-30234485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 30225871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 565 (R565P)

Ref Sequence

ENSEMBL: ENSMUSP00000146767 (fasta)

Gene Model

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

AlphaFold

Q80YF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044338
AA Change: R565P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882
AA Change: R565P

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: ENSMUST00000124276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207637

Predicted Effect

probably damaging
Transcript: ENSMUST00000207858
AA Change: R541P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207860
AA Change: R565P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000208522

Predicted Effect

probably damaging
Transcript: ENSMUST00000208538
AA Change: R565P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.1562

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,352,631 (GRCm39)		probably null	Het
Anxa11	T	C	14: 25,874,652 (GRCm39)	I221T	probably damaging	Het
Bmpr2	T	C	1: 59,880,584 (GRCm39)		probably benign	Het
Btn2a2	T	A	13: 23,670,580 (GRCm39)	H51L	probably benign	Het
Casz1	T	C	4: 149,028,851 (GRCm39)	S1099P	probably benign	Het
Cnot4	A	G	6: 35,028,438 (GRCm39)	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,112,191 (GRCm39)		probably benign	Het
Cobl	T	C	11: 12,204,699 (GRCm39)	T586A	probably benign	Het
Crocc	T	C	4: 140,747,224 (GRCm39)	K1528R	probably benign	Het
Crocc	A	G	4: 140,744,382 (GRCm39)	L1838P	probably benign	Het
Dact2	A	G	17: 14,417,303 (GRCm39)	V299A	probably benign	Het
Dapk1	C	A	13: 60,909,198 (GRCm39)	N1270K	probably benign	Het
Ddx41	T	C	13: 55,680,819 (GRCm39)	Y375C	probably damaging	Het
Dock5	T	A	14: 68,022,383 (GRCm39)		probably null	Het
Dyrk4	T	G	6: 126,863,612 (GRCm39)		probably null	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam210b	A	G	2: 172,187,773 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,819,712 (GRCm39)	I229T	probably benign	Het
Fbxo39	A	G	11: 72,207,747 (GRCm39)	D33G	probably damaging	Het
Fbxw11	A	G	11: 32,670,496 (GRCm39)	E120G	probably damaging	Het
Fbxw2	A	T	2: 34,701,032 (GRCm39)	L261Q	probably damaging	Het
Gm5800	A	C	14: 51,953,461 (GRCm39)	N51K	probably benign	Het
Gm6899	A	G	11: 26,543,768 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,035 (GRCm39)	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351 (GRCm39)	V1095M	probably damaging	Het
Grip2	T	C	6: 91,773,178 (GRCm39)		probably benign	Het
Hacd4	A	G	4: 88,355,757 (GRCm39)	F43L	probably damaging	Het
Hif1a	T	G	12: 73,989,049 (GRCm39)	S645R	probably benign	Het
Hipk3	A	G	2: 104,263,982 (GRCm39)	S839P	possibly damaging	Het
Idi2l	C	A	13: 8,990,802 (GRCm39)		probably benign	Het
Il16	A	T	7: 83,327,183 (GRCm39)		probably benign	Het
Il3ra	T	A	14: 14,351,166 (GRCm38)		probably null	Het
Il5ra	A	G	6: 106,721,296 (GRCm39)	M1T	probably null	Het
Klra2	G	A	6: 131,197,148 (GRCm39)	R251C	probably benign	Het
Lamc2	C	T	1: 153,009,367 (GRCm39)	V813M	probably benign	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lrp5	T	C	19: 3,650,777 (GRCm39)	D1219G	possibly damaging	Het
Map3k6	C	T	4: 132,972,863 (GRCm39)	P341S	possibly damaging	Het
Mcts2	A	G	2: 152,529,609 (GRCm39)	E140G	probably benign	Het
Med1	T	C	11: 98,060,264 (GRCm39)	M222V	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Muc19	A	T	15: 91,784,696 (GRCm39)		noncoding transcript	Het
Nr1h2	A	G	7: 44,201,684 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,706,592 (GRCm39)		probably null	Het
Or2w6	C	A	13: 21,843,316 (GRCm39)	R59L	probably damaging	Het
Or56a42-ps1	A	G	7: 104,777,425 (GRCm39)	V73A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,123 (GRCm39)	F250I	probably damaging	Het
P4hb	G	A	11: 120,459,070 (GRCm39)	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,534,202 (GRCm39)	V101A	probably benign	Het
Pou4f2	A	G	8: 79,161,869 (GRCm39)	S245P	probably benign	Het
Pramel26	G	T	4: 143,539,222 (GRCm39)	N90K	probably damaging	Het
Rnpep	A	G	1: 135,200,157 (GRCm39)	V266A	probably damaging	Het
Scly	G	A	1: 91,237,555 (GRCm39)	G206R	probably damaging	Het
Sec14l3	A	T	11: 4,024,814 (GRCm39)	K254N	probably damaging	Het
Sgpp1	A	T	12: 75,781,874 (GRCm39)	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,001,190 (GRCm39)	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,843,249 (GRCm39)	F377L	probably benign	Het
Slc44a3	T	C	3: 121,253,719 (GRCm39)	I625V	probably benign	Het
Slc47a2	A	T	11: 61,200,802 (GRCm39)	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 82,926,479 (GRCm39)		noncoding transcript	Het
Smarcd1	T	A	15: 99,608,975 (GRCm39)	I383N	probably damaging	Het
Sort1	A	G	3: 108,246,226 (GRCm39)	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,195,897 (GRCm39)	M1I	probably null	Het
Sycp2	A	C	2: 177,998,373 (GRCm39)	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,502,775 (GRCm39)	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,564 (GRCm39)	C303*	probably null	Het
Vmn2r23	A	G	6: 123,706,680 (GRCm39)	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,240,670 (GRCm39)	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399 (GRCm39)	N1882D	probably benign	Het
Zfp91	T	C	19: 12,747,459 (GRCm39)	I555V	possibly 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
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
R7183:Arhgap33	UTSW	7	30,225,296 (GRCm39)	splice site	probably null
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'- CCCAGAGCAAAGAATGTCTTCCAGC -3'
(R):5'- GTAACTGACCAGAGCCACTGCC -3'

Sequencing Primer
(F):5'- CCTCCTGGAGTTTGGGTGAC -3'
(R):5'- GGAGCTGCCTTCTCATCAG -3'

Posted On

2013-07-11