Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Arhgap33'

35367

Institutional Source

Beutler Lab

Gene Symbol

Arhgap33

Ensembl Gene

ENSMUSG00000036882

Gene Name

Rho GTPase activating protein 33

Synonyms

Snx26, NOMA-GAP, Tcgap

MMRRC Submission

038498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R0276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30522226-30535060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30523244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1088 (W1088R)

Ref Sequence

ENSEMBL: ENSMUSP00000146767 (fasta)

Gene Model

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

AlphaFold

Q80YF9

Predicted Effect

probably benign
Transcript: ENSMUST00000044338
AA Change: W1088R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882
AA Change: W1088R

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 benign
Transcript: ENSMUST00000207858
AA Change: W1064R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000207860
AA Change: W1088R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000208522

Predicted Effect

probably benign
Transcript: ENSMUST00000208538
AA Change: W1088R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0848

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760 (GRCm38)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591 (GRCm38)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031 (GRCm38)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518 (GRCm38)	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581 (GRCm38)	M250K	probably benign	Het
Arhgef15	T	C	11: 68,953,472 (GRCm38)		probably benign	Het
Aspm	T	C	1: 139,478,471 (GRCm38)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694 (GRCm38)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901 (GRCm38)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673 (GRCm38)		probably benign	Het
Baiap3	A	C	17: 25,243,687 (GRCm38)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837 (GRCm38)		probably null	Het
Bms1	G	A	6: 118,408,134 (GRCm38)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065 (GRCm38)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm38)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392 (GRCm38)	P364Q	probably damaging	Het
Clstn3	A	G	6: 124,431,740 (GRCm38)		probably benign	Het
Cntrl	A	T	2: 35,151,732 (GRCm38)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741 (GRCm38)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959 (GRCm38)	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335 (GRCm38)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045 (GRCm38)	T319I	possibly damaging	Het
Dnaaf10	T	C	11: 17,229,821 (GRCm38)	I274T	probably benign	Het
Dzip1l	G	A	9: 99,660,998 (GRCm38)	R502Q	probably benign	Het
Efcab5	G	A	11: 77,140,923 (GRCm38)	R42W	probably damaging	Het
Efcab5	A	G	11: 77,129,876 (GRCm38)	M673T	probably damaging	Het
F2rl3	A	G	8: 72,762,798 (GRCm38)	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964 (GRCm38)	R31H	probably damaging	Het
Fcer2a	A	T	8: 3,689,811 (GRCm38)	N53K	possibly damaging	Het
Golgb1	A	C	16: 36,913,876 (GRCm38)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575 (GRCm38)		probably benign	Het
Haspin	A	T	11: 73,136,487 (GRCm38)	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147 (GRCm38)	F478L	probably damaging	Het
Iho1	A	T	9: 108,428,440 (GRCm38)	M11K	possibly damaging	Het
Il17rb	T	A	14: 30,004,380 (GRCm38)	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493 (GRCm38)	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564 (GRCm38)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514 (GRCm38)	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650 (GRCm38)		probably benign	Het
Kmt2d	T	C	15: 98,850,311 (GRCm38)		probably benign	Het
Lars2	A	G	9: 123,438,121 (GRCm38)		probably benign	Het
Lilrb4a	T	C	10: 51,491,581 (GRCm38)	V73A	probably benign	Het
Lratd2	G	T	15: 60,823,674 (GRCm38)	Y74*	probably null	Het
Lrrc8a	A	G	2: 30,256,788 (GRCm38)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263 (GRCm38)		probably benign	Het
Mc2r	A	T	18: 68,408,132 (GRCm38)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107 (GRCm38)		probably null	Het
Napg	C	T	18: 62,986,963 (GRCm38)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629 (GRCm38)		probably benign	Het
Nlk	T	C	11: 78,571,475 (GRCm38)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109 (GRCm38)	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498 (GRCm38)	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162 (GRCm38)		probably null	Het
Or1n1b	A	T	2: 36,890,023 (GRCm38)	M275K	probably benign	Het
Or2ag2b	A	T	7: 106,818,697 (GRCm38)	I205L	probably benign	Het
Or3a10	A	G	11: 74,045,118 (GRCm38)	I52T	probably damaging	Het
Or4c107	T	A	2: 88,958,755 (GRCm38)	C96*	probably null	Het
Or4m1	C	A	14: 50,320,179 (GRCm38)	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062 (GRCm38)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237 (GRCm38)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943 (GRCm38)	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707 (GRCm38)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246 (GRCm38)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049 (GRCm38)		probably benign	Het
Prrc2b	G	A	2: 32,219,654 (GRCm38)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396 (GRCm38)	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980 (GRCm38)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596 (GRCm38)	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735 (GRCm38)		probably null	Het
Rab5b	A	C	10: 128,686,746 (GRCm38)		probably null	Het
Rft1	T	A	14: 30,690,583 (GRCm38)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rsu1	A	T	2: 13,170,135 (GRCm38)		probably benign	Het
Senp6	A	G	9: 80,136,747 (GRCm38)	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919 (GRCm38)	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941 (GRCm38)	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940 (GRCm38)	T1655A	probably damaging	Het
Slc28a2b	T	A	2: 122,521,928 (GRCm38)	S389T	probably damaging	Het
Slc43a3	G	A	2: 84,937,663 (GRCm38)		probably benign	Het
Snx29	T	C	16: 11,738,373 (GRCm38)	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894 (GRCm38)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469 (GRCm38)	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416 (GRCm38)		probably null	Het
Stx6	T	C	1: 155,174,163 (GRCm38)		probably benign	Het
Thbs4	G	A	13: 92,775,532 (GRCm38)	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502 (GRCm38)	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373 (GRCm38)		probably benign	Het
Top2a	A	G	11: 99,009,907 (GRCm38)		probably benign	Het
Tpd52l2	T	C	2: 181,502,059 (GRCm38)		probably null	Het
Trak1	A	G	9: 121,454,338 (GRCm38)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952 (GRCm38)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086 (GRCm38)	M1V	probably null	Het
Triobp	T	A	15: 78,973,676 (GRCm38)	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297 (GRCm38)		probably benign	Het
Usb1	A	G	8: 95,333,457 (GRCm38)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649 (GRCm38)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859 (GRCm38)	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307 (GRCm38)	K766R	probably benign	Het
Xpo5	T	G	17: 46,241,507 (GRCm38)	C1089G	probably damaging	Het

Other mutations in Arhgap33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Arhgap33	APN	7	30,529,946 (GRCm38)	missense	probably damaging	0.99
IGL02176:Arhgap33	APN	7	30,524,051 (GRCm38)	missense	possibly damaging	0.76
IGL02430:Arhgap33	APN	7	30,522,760 (GRCm38)	missense	probably benign	0.07
IGL03091:Arhgap33	APN	7	30,528,293 (GRCm38)	missense	probably damaging	1.00
R0494:Arhgap33	UTSW	7	30,524,496 (GRCm38)	missense	probably damaging	0.98
R0597:Arhgap33	UTSW	7	30,526,446 (GRCm38)	missense	probably damaging	1.00
R0717:Arhgap33	UTSW	7	30,528,349 (GRCm38)	missense	probably damaging	1.00
R1661:Arhgap33	UTSW	7	30,532,323 (GRCm38)	missense	probably damaging	1.00
R1761:Arhgap33	UTSW	7	30,533,063 (GRCm38)	splice site	probably null
R1882:Arhgap33	UTSW	7	30,522,809 (GRCm38)	missense	probably damaging	1.00
R2161:Arhgap33	UTSW	7	30,528,650 (GRCm38)	splice site	probably null
R2566:Arhgap33	UTSW	7	30,527,229 (GRCm38)	missense	probably damaging	1.00
R4353:Arhgap33	UTSW	7	30,524,136 (GRCm38)	missense	possibly damaging	0.95
R4552:Arhgap33	UTSW	7	30,519,108 (GRCm38)	unclassified	probably benign
R4778:Arhgap33	UTSW	7	30,532,093 (GRCm38)	missense	probably benign
R4887:Arhgap33	UTSW	7	30,532,192 (GRCm38)	missense	probably damaging	0.99
R4957:Arhgap33	UTSW	7	30,532,361 (GRCm38)	missense	probably damaging	0.96
R5001:Arhgap33	UTSW	7	30,533,016 (GRCm38)	missense	possibly damaging	0.95
R5140:Arhgap33	UTSW	7	30,528,301 (GRCm38)	missense	probably damaging	1.00
R5585:Arhgap33	UTSW	7	30,523,835 (GRCm38)	missense	probably benign	0.00
R5704:Arhgap33	UTSW	7	30,519,620 (GRCm38)	unclassified	probably benign
R5805:Arhgap33	UTSW	7	30,526,414 (GRCm38)	missense	probably benign	0.01
R6476:Arhgap33	UTSW	7	30,524,412 (GRCm38)	missense	probably damaging	0.99
R6485:Arhgap33	UTSW	7	30,524,004 (GRCm38)	missense	probably benign
R6572:Arhgap33	UTSW	7	30,527,210 (GRCm38)	missense	probably damaging	1.00
R7183:Arhgap33	UTSW	7	30,525,871 (GRCm38)	splice site	probably null
R7205:Arhgap33	UTSW	7	30,533,009 (GRCm38)	missense	probably damaging	0.99
R7241:Arhgap33	UTSW	7	30,528,721 (GRCm38)	missense	probably damaging	1.00
R7259:Arhgap33	UTSW	7	30,532,200 (GRCm38)	missense	probably damaging	1.00
R7319:Arhgap33	UTSW	7	30,526,369 (GRCm38)	missense	probably benign
R7384:Arhgap33	UTSW	7	30,527,271 (GRCm38)	missense	probably damaging	1.00
R7412:Arhgap33	UTSW	7	30,523,052 (GRCm38)	missense	probably benign	0.00
R7693:Arhgap33	UTSW	7	30,526,112 (GRCm38)	critical splice donor site	probably null
R7747:Arhgap33	UTSW	7	30,524,135 (GRCm38)	missense	probably damaging	0.98
R7893:Arhgap33	UTSW	7	30,528,776 (GRCm38)	missense	probably benign	0.34
R7915:Arhgap33	UTSW	7	30,523,223 (GRCm38)	missense	probably benign	0.08
R8819:Arhgap33	UTSW	7	30,528,740 (GRCm38)	missense	probably benign	0.09
R8820:Arhgap33	UTSW	7	30,528,740 (GRCm38)	missense	probably benign	0.09
R8912:Arhgap33	UTSW	7	30,533,042 (GRCm38)	splice site	probably benign
R8922:Arhgap33	UTSW	7	30,523,992 (GRCm38)	missense	probably damaging	0.99
R9211:Arhgap33	UTSW	7	30,523,598 (GRCm38)	missense	possibly damaging	0.94
R9616:Arhgap33	UTSW	7	30,529,942 (GRCm38)	missense	probably damaging	0.99
R9755:Arhgap33	UTSW	7	30,528,501 (GRCm38)	missense	possibly damaging	0.91
R9762:Arhgap33	UTSW	7	30,531,525 (GRCm38)	missense	probably null	1.00
X0034:Arhgap33	UTSW	7	30,524,449 (GRCm38)	small deletion	probably benign
Z1176:Arhgap33	UTSW	7	30,522,717 (GRCm38)	missense	probably benign	0.13
Z1177:Arhgap33	UTSW	7	30,522,817 (GRCm38)	missense	probably damaging	1.00
Z1186:Arhgap33	UTSW	7	30,524,479 (GRCm38)	small insertion	probably benign
Z1186:Arhgap33	UTSW	7	30,524,435 (GRCm38)	missense	probably benign
Z1186:Arhgap33	UTSW	7	30,523,651 (GRCm38)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GCTGGCCTATAGAGCAGAAAAGGTTCG -3'
(R):5'- TTACAGGGATGCTCCAGAGATGGCAG -3'

Sequencing Primer
(F):5'- TATGTGGACCCCAAGGAGC -3'
(R):5'- AGCCCAGTCACCATGTTCTG -3'

Posted On

2013-05-09