Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02326:Prex1'

288499

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prex1

Ensembl Gene

ENSMUSG00000039621

Gene Name

phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1

Synonyms

P-REX1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

166566342-166713832 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166621185 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 252 (I252T)

Ref Sequence

ENSEMBL: ENSMUSP00000037180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036719] [ENSMUST00000099080]

Predicted Effect

probably benign
Transcript: ENSMUST00000036719
AA Change: I252T

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: I252T

Domain	Start	End	E-Value	Type
low complexity region	3	27	N/A	INTRINSIC
RhoGEF	48	234	3.16e-52	SMART
PH	267	389	1.02e-10	SMART
DEP	418	491	6.86e-27	SMART
DEP	519	592	3.06e-24	SMART
PDZ	628	701	4.55e-1	SMART
PDZ	712	783	5.66e-1	SMART
low complexity region	800	811	N/A	INTRINSIC
low complexity region	814	825	N/A	INTRINSIC
low complexity region	1109	1127	N/A	INTRINSIC
low complexity region	1545	1555	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099080
AA Change: I82T

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: I82T

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	5	64	3.8e-18	PFAM
PH	97	219	1.02e-10	SMART
DEP	248	321	6.86e-27	SMART
DEP	349	422	3.06e-24	SMART
PDZ	458	531	4.55e-1	SMART
PDZ	542	613	5.66e-1	SMART
low complexity region	630	641	N/A	INTRINSIC
low complexity region	644	655	N/A	INTRINSIC
low complexity region	939	957	N/A	INTRINSIC
low complexity region	1375	1385	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have impaired neutrophil migration and autism-like social behavior with defective AMPA-mediated LTD. Mice with other alleles exhibit reduced weight, smaller livers and increased peripheral neutrophil numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,671,402	V29A	unknown	Het
Abcc8	C	A	7: 46,122,857		probably null	Het
Ankar	A	T	1: 72,666,355	I614N	probably damaging	Het
Ash1l	G	A	3: 88,966,057	R49H	probably benign	Het
Atp8b1	T	C	18: 64,538,583	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,151,473	I861T	possibly damaging	Het
Cdh20	T	C	1: 104,975,039	L485P	probably damaging	Het
Cobl	A	T	11: 12,386,712	N25K	possibly damaging	Het
Col14a1	T	C	15: 55,418,797	V818A	unknown	Het
Csmd3	G	A	15: 47,755,963		probably benign	Het
Dpp6	A	G	5: 27,664,757	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,898,746	R96C	probably damaging	Het
Fam53a	T	C	5: 33,600,594	D395G	probably damaging	Het
Gabrb1	T	A	5: 71,700,847	I72K	probably damaging	Het
Hmcn2	G	A	2: 31,450,952	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,323,745	T430I	unknown	Het
Ighv1-53	T	A	12: 115,158,615	T47S	probably benign	Het
Ilk	C	A	7: 105,741,633	P261Q	probably damaging	Het
Ints10	T	G	8: 68,804,833	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,402,592	S782R	probably benign	Het
Map3k4	A	G	17: 12,249,010	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113	P374S	probably benign	Het
Olfr1106	G	A	2: 87,049,011	S75L	possibly damaging	Het
Olfr1152	T	A	2: 87,868,675	I228N	probably damaging	Het
Olfr1462	C	A	19: 13,191,415	Y249*	probably null	Het
Olfr670	T	A	7: 104,960,646	I29F	probably benign	Het
Pkd2	T	C	5: 104,477,075	Y246H	probably benign	Het
Plekha5	G	T	6: 140,583,850	G340*	probably null	Het
Plxna4	T	A	6: 32,152,905	M1828L	probably damaging	Het
Pura	A	G	18: 36,287,778	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713	F782I	probably damaging	Het
Rbp4	T	C	19: 38,124,115	D90G	probably damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Scn7a	C	A	2: 66,700,048	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,749,151		probably null	Het
Slc43a1	T	G	2: 84,849,771	L87R	probably damaging	Het
Sppl2c	A	G	11: 104,187,273	T300A	probably benign	Het
Srgap2	T	A	1: 131,356,907		probably null	Het
Tkt	G	A	14: 30,572,225	V531M	probably damaging	Het
Twsg1	T	C	17: 65,926,436	D173G	possibly damaging	Het
Ugt2b37	G	T	5: 87,241,002	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,423,733	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,258,270	I41T	probably benign	Het
Vwa5a	A	T	9: 38,737,956	T667S	probably benign	Het
Xrn2	A	G	2: 147,047,713	E672G	probably benign	Het
Zfp235	T	A	7: 24,135,302	M1K	probably null	Het
Zmym1	T	C	4: 127,047,760	E847G	probably damaging	Het

Other mutations in Prex1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Prex1	APN	2	166638401	missense	probably damaging	1.00
IGL00309:Prex1	APN	2	166609823	missense	probably damaging	0.99
IGL00953:Prex1	APN	2	166638409	missense	probably damaging	1.00
IGL00961:Prex1	APN	2	166585736	missense	probably damaging	0.98
IGL01300:Prex1	APN	2	166638407	missense	possibly damaging	0.46
IGL01318:Prex1	APN	2	166569340	splice site	probably benign
IGL01753:Prex1	APN	2	166602882	missense	probably benign	0.11
IGL01819:Prex1	APN	2	166621245	missense	probably damaging	1.00
IGL02058:Prex1	APN	2	166585183	missense	probably benign	0.00
IGL02251:Prex1	APN	2	166577886	missense	probably damaging	0.99
IGL02366:Prex1	APN	2	166580427	missense	probably damaging	1.00
IGL02414:Prex1	APN	2	166609828	missense	probably damaging	1.00
IGL02660:Prex1	APN	2	166593867	missense	probably damaging	0.97
IGL02666:Prex1	APN	2	166572989	missense	probably benign	0.00
IGL02874:Prex1	APN	2	166585047	missense	probably damaging	1.00
IGL02935:Prex1	APN	2	166570345	missense	probably damaging	1.00
IGL03179:Prex1	APN	2	166585194	missense	probably benign	0.31
R0207:Prex1	UTSW	2	166585898	missense	possibly damaging	0.92
R0415:Prex1	UTSW	2	166586699	unclassified	probably benign
R0420:Prex1	UTSW	2	166589571	missense	probably benign	0.13
R0449:Prex1	UTSW	2	166569377	missense	probably benign	0.16
R0458:Prex1	UTSW	2	166585823	missense	probably damaging	0.99
R0927:Prex1	UTSW	2	166586537	missense	probably benign	0.01
R1299:Prex1	UTSW	2	166585907	missense	possibly damaging	0.62
R1414:Prex1	UTSW	2	166593861	missense	probably damaging	1.00
R1440:Prex1	UTSW	2	166580463	missense	probably damaging	0.98
R1506:Prex1	UTSW	2	166587081	missense	probably damaging	1.00
R1725:Prex1	UTSW	2	166601736	missense	probably damaging	1.00
R1831:Prex1	UTSW	2	166585101	missense	probably damaging	1.00
R1883:Prex1	UTSW	2	166583272	missense	probably benign	0.20
R1896:Prex1	UTSW	2	166586654	missense	probably benign	0.01
R2022:Prex1	UTSW	2	166575614	missense	possibly damaging	0.80
R2091:Prex1	UTSW	2	166569365	missense	possibly damaging	0.95
R2258:Prex1	UTSW	2	166587157	missense	probably benign	0.00
R2263:Prex1	UTSW	2	166589068	splice site	probably benign
R2276:Prex1	UTSW	2	166577955	missense	probably benign	0.34
R2279:Prex1	UTSW	2	166577955	missense	probably benign	0.34
R2680:Prex1	UTSW	2	166601772	missense	possibly damaging	0.92
R3024:Prex1	UTSW	2	166589036	missense	probably benign	0.04
R3421:Prex1	UTSW	2	166617854	missense	probably damaging	1.00
R3614:Prex1	UTSW	2	166609781	missense	probably damaging	1.00
R4244:Prex1	UTSW	2	166570336	missense	probably damaging	1.00
R4605:Prex1	UTSW	2	166713544	missense	probably benign	0.45
R4685:Prex1	UTSW	2	166638332	missense	probably damaging	0.97
R4787:Prex1	UTSW	2	166638340	missense	probably benign	0.01
R4796:Prex1	UTSW	2	166592291	missense	probably damaging	1.00
R4825:Prex1	UTSW	2	166585857	nonsense	probably null
R4955:Prex1	UTSW	2	166573223	missense	probably damaging	0.99
R5046:Prex1	UTSW	2	166572963	missense	probably benign	0.00
R5095:Prex1	UTSW	2	166581921	missense	probably damaging	1.00
R5408:Prex1	UTSW	2	166575653	small insertion	probably benign
R5462:Prex1	UTSW	2	166644808	missense	probably benign	0.02
R5535:Prex1	UTSW	2	166580273	missense	possibly damaging	0.80
R5777:Prex1	UTSW	2	166586659	missense	probably damaging	1.00
R5813:Prex1	UTSW	2	166583207	missense	probably benign
R5860:Prex1	UTSW	2	166644684	intron	probably benign
R5984:Prex1	UTSW	2	166585744	missense	probably damaging	1.00
R6009:Prex1	UTSW	2	166581984	missense	probably damaging	1.00
R6174:Prex1	UTSW	2	166572963	missense	probably benign	0.00
R6345:Prex1	UTSW	2	166572960	missense	probably null	0.81
R6897:Prex1	UTSW	2	166581993	missense	probably damaging	0.99
R6935:Prex1	UTSW	2	166599655	missense	probably damaging	1.00
R7025:Prex1	UTSW	2	166613187	small insertion	probably benign
R7037:Prex1	UTSW	2	166587180	missense	probably benign	0.05
R7076:Prex1	UTSW	2	166633382	missense	probably damaging	0.99
R7181:Prex1	UTSW	2	166570371	missense	probably damaging	1.00
R7361:Prex1	UTSW	2	166713570	missense	probably benign	0.04
R7381:Prex1	UTSW	2	166587127	missense	probably damaging	1.00
R7721:Prex1	UTSW	2	166577890	nonsense	probably null
R7763:Prex1	UTSW	2	166713709	missense	unknown
R7809:Prex1	UTSW	2	166573244	missense	possibly damaging	0.91
R7998:Prex1	UTSW	2	166587045	critical splice donor site	probably null
R8029:Prex1	UTSW	2	166575603	missense	probably benign	0.01
X0065:Prex1	UTSW	2	166586625	missense	probably benign
Z1176:Prex1	UTSW	2	166572970	nonsense	probably null
Z1177:Prex1	UTSW	2	166592228	missense	probably damaging	0.98

Posted On

2015-04-16