Mutagenetix > Incidental Mutation

Incidental Mutation 'R5001:Arhgap33'

389906

Institutional Source

Beutler Lab

Gene Symbol

Arhgap33

Ensembl Gene

ENSMUSG00000036882

Gene Name

Rho GTPase activating protein 33

Synonyms

Snx26, Tcgap, NOMA-GAP

MMRRC Submission

042595-MU

Accession Numbers

Essential gene?

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

Stock #

R5001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30221651-30234485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30232441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 32 (S32I)

Ref Sequence

ENSEMBL: ENSMUSP00000146766 (fasta)

Gene Model

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

AlphaFold

Q80YF9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044338
AA Change: S32I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882
AA Change: S32I

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

possibly damaging
Transcript: ENSMUST00000207858
AA Change: S8I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207860
AA Change: S32I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208491
AA Change: S32I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208522
AA Change: S32I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208538
AA Change: S32I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208723

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	G	A	12: 4,248,434 (GRCm39)	V499M	possibly damaging	Het
Aff4	T	C	11: 53,295,184 (GRCm39)	S795P	probably damaging	Het
Ank	G	A	15: 27,562,819 (GRCm39)	V176I	probably damaging	Het
Ankfn1	A	G	11: 89,332,268 (GRCm39)	I446T	possibly damaging	Het
Ascc3	T	A	10: 50,699,744 (GRCm39)	Y1856N	probably damaging	Het
Atf3	T	C	1: 190,909,472 (GRCm39)	T66A	probably benign	Het
Atf7ip	T	C	6: 136,538,386 (GRCm39)	C548R	probably damaging	Het
Bag6	A	G	17: 35,364,152 (GRCm39)	T841A	probably damaging	Het
Bbof1	A	T	12: 84,473,630 (GRCm39)	Q320L	possibly damaging	Het
Bmp2k	A	T	5: 97,201,001 (GRCm39)	Q307L	probably damaging	Het
Btaf1	T	A	19: 36,964,052 (GRCm39)	N874K	possibly damaging	Het
Calr4	G	A	4: 109,096,179 (GRCm39)		probably null	Het
Camk1d	T	C	2: 5,317,912 (GRCm39)	I248V	possibly damaging	Het
Ccdc177	G	A	12: 80,804,160 (GRCm39)	R705C	unknown	Het
Cdk18	C	T	1: 132,046,587 (GRCm39)		probably null	Het
Cers4	A	G	8: 4,565,565 (GRCm39)	S4G	probably benign	Het
Cfap54	A	G	10: 92,800,396 (GRCm39)	V1604A	probably benign	Het
Chd8	C	T	14: 52,441,372 (GRCm39)	G907S	probably benign	Het
Cilk1	T	C	9: 78,038,801 (GRCm39)	S17P	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Cntd1	T	C	11: 101,176,557 (GRCm39)	V218A	possibly damaging	Het
Cog7	A	T	7: 121,549,109 (GRCm39)	V384E	probably damaging	Het
Col5a2	A	G	1: 45,542,058 (GRCm39)	V6A	unknown	Het
Col7a1	T	C	9: 108,794,146 (GRCm39)		probably null	Het
Cpsf6	T	A	10: 117,203,866 (GRCm39)	I29L	possibly damaging	Het
Cyp3a13	T	C	5: 137,897,178 (GRCm39)	T379A	probably benign	Het
Ddx46	T	C	13: 55,800,732 (GRCm39)	S296P	probably damaging	Het
Dmbt1	A	G	7: 130,651,742 (GRCm39)	D328G	probably damaging	Het
Dnah8	T	G	17: 31,006,159 (GRCm39)	L3692W	probably damaging	Het
Dnmt3l	A	C	10: 77,895,565 (GRCm39)	S368R	probably null	Het
Egfr	A	G	11: 16,854,434 (GRCm39)	K869E	probably damaging	Het
Ehd1	G	A	19: 6,347,724 (GRCm39)	M359I	probably benign	Het
F5	A	T	1: 164,023,139 (GRCm39)	T1566S	probably benign	Het
Flrt2	T	C	12: 95,745,725 (GRCm39)	I21T	probably benign	Het
Galnt1	T	A	18: 24,404,812 (GRCm39)	I383K	probably benign	Het
Ghdc	G	T	11: 100,657,660 (GRCm39)	A523D	probably damaging	Het
Gm24022	A	G	12: 113,393,399 (GRCm39)		probably benign	Het
Golga3	T	C	5: 110,353,643 (GRCm39)	S934P	probably damaging	Het
Gpr135	T	A	12: 72,117,282 (GRCm39)	T162S	probably benign	Het
Gucd1	G	A	10: 75,353,036 (GRCm39)		probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Igkv6-15	T	C	6: 70,383,633 (GRCm39)	Y56C	probably damaging	Het
Il22ra1	A	T	4: 135,460,415 (GRCm39)	Y57F	probably damaging	Het
Irak4	A	G	15: 94,456,154 (GRCm39)	E247G	possibly damaging	Het
Kank3	T	C	17: 34,040,746 (GRCm39)	V13A	possibly damaging	Het
Klhl1	A	T	14: 96,374,046 (GRCm39)	S667T	probably damaging	Het
Klhl6	T	G	16: 19,765,741 (GRCm39)	*620C	probably null	Het
Lct	A	G	1: 128,235,978 (GRCm39)	L343P	probably damaging	Het
Lgr6	G	T	1: 134,918,370 (GRCm39)	P264T	probably benign	Het
Lilrb4a	T	A	10: 51,367,516 (GRCm39)		probably null	Het
Lin7a	G	T	10: 107,218,530 (GRCm39)	G25*	probably null	Het
Lmnb2	G	A	10: 80,753,946 (GRCm39)	T36M	probably damaging	Het
Manba	T	C	3: 135,273,391 (GRCm39)	F775S	probably benign	Het
Marchf6	A	G	15: 31,465,468 (GRCm39)	V812A	probably damaging	Het
Megf6	T	A	4: 154,352,517 (GRCm39)	L1292H	probably damaging	Het
Myo18b	T	G	5: 112,909,206 (GRCm39)	Q1979P	probably damaging	Het
Myoz1	T	C	14: 20,703,769 (GRCm39)	M59V	probably damaging	Het
Naa35	T	C	13: 59,773,345 (GRCm39)	I100T	possibly damaging	Het
Nox4	A	T	7: 87,010,011 (GRCm39)	Y404F	probably damaging	Het
Ntn1	T	C	11: 68,151,358 (GRCm39)	Y441C	probably damaging	Het
Onecut3	A	G	10: 80,331,154 (GRCm39)	T105A	unknown	Het
Or10ak8	C	A	4: 118,774,440 (GRCm39)	V75F	probably damaging	Het
Or1n1	T	C	2: 36,750,082 (GRCm39)	T93A	probably benign	Het
Or4d5	G	A	9: 40,012,523 (GRCm39)	H88Y	probably benign	Het
Pabpc1l	A	G	2: 163,884,438 (GRCm39)	S392G	probably benign	Het
Pan3	T	A	5: 147,463,492 (GRCm39)		probably null	Het
Pcdha4	G	A	18: 37,088,001 (GRCm39)	S728N	probably benign	Het
Pds5a	T	C	5: 65,854,128 (GRCm39)	D38G	probably damaging	Het
Pgm2l1	A	G	7: 99,921,583 (GRCm39)	I605V	probably benign	Het
Phip	T	C	9: 82,778,072 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Ppp2r2a	A	T	14: 67,259,757 (GRCm39)	L313*	probably null	Het
Ppp4c	A	G	7: 126,386,709 (GRCm39)	F126S	probably damaging	Het
Ptger2	C	A	14: 45,226,824 (GRCm39)	R135S	probably damaging	Het
Rab11fip5	T	A	6: 85,324,788 (GRCm39)	E506D	probably damaging	Het
Rdh12	G	A	12: 79,259,516 (GRCm39)	G133R	probably damaging	Het
Rims2	A	T	15: 39,315,824 (GRCm39)	D610V	probably benign	Het
Saa1	T	A	7: 46,390,132 (GRCm39)	Y122F	probably damaging	Het
Septin10	A	T	10: 59,012,811 (GRCm39)	V269E	probably damaging	Het
Serpina3n	T	A	12: 104,374,998 (GRCm39)	D23E	probably benign	Het
Serpinb11	A	G	1: 107,304,598 (GRCm39)	K188E	possibly damaging	Het
Slc18a3	C	T	14: 32,185,736 (GRCm39)	V216M	possibly damaging	Het
Slc19a3	G	T	1: 83,000,341 (GRCm39)	N225K	probably benign	Het
Slc4a1	T	A	11: 102,242,329 (GRCm39)	I797F	probably benign	Het
Slx9	A	G	10: 77,325,850 (GRCm39)	V154A	probably benign	Het
Spic	A	G	10: 88,511,761 (GRCm39)	M165T	possibly damaging	Het
Timm44	A	T	8: 4,325,886 (GRCm39)	M1K	probably null	Het
Tmc6	A	G	11: 117,661,610 (GRCm39)	L572P	probably benign	Het
Tnc	G	A	4: 63,918,299 (GRCm39)	T1204M	probably benign	Het
Tnc	G	A	4: 63,902,726 (GRCm39)	T1517I	probably damaging	Het
Trip11	A	T	12: 101,851,169 (GRCm39)	L680*	probably null	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Tulp3	A	C	6: 128,302,031 (GRCm39)	V330G	probably damaging	Het
Upf1	A	G	8: 70,787,350 (GRCm39)	S835P	probably damaging	Het
Wdr64	A	G	1: 175,620,525 (GRCm39)		probably null	Het
Yju2b	G	A	8: 84,985,304 (GRCm39)	P322S	probably benign	Het
Zbtb40	A	G	4: 136,723,461 (GRCm39)	L643P	probably damaging	Het
Zc3h18	A	T	8: 123,110,259 (GRCm39)	D36V	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
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'- TCTCATAGTGGAAATGGGCAC -3'
(R):5'- AGCACTCATCTCCTGCTGAC -3'

Sequencing Primer
(F):5'- TCGAGGAGCTGAGAGCCTG -3'
(R):5'- ATCTCCTGCTGACCTGCC -3'

Posted On

2016-06-06