Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01819:Prex1'

154462

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?

Possibly non essential (E-score: 0.350) question?

Stock #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

166566342-166713832 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166621245 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 62 (I62T)

Ref Sequence

ENSEMBL: ENSMUSP00000096679 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000036719
AA Change: I232T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: I232T

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 damaging
Transcript: ENSMUST00000099080
AA Change: I62T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: I62T

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,584,561	S105P	probably benign	Het
Adora2b	A	G	11: 62,265,184	N153S	possibly damaging	Het
Afm	C	T	5: 90,524,906	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,615,721	D397G	probably damaging	Het
Dnah9	A	G	11: 66,108,126	V1032A	probably benign	Het
Elovl7	T	G	13: 108,274,320	V143G	probably damaging	Het
Fhl4	T	C	10: 85,098,870	K16E	probably damaging	Het
Golga1	C	T	2: 39,034,149	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409	R628*	probably null	Het
Hectd4	A	G	5: 121,328,418	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,515,990	*149R	probably null	Het
Kcnab1	T	A	3: 65,319,454	Y185N	probably damaging	Het
Lars	G	T	18: 42,202,550	T1167K	probably benign	Het
Mib2	A	T	4: 155,655,258		probably null	Het
Mrps2	T	C	2: 28,468,336	V46A	probably benign	Het
Myo18b	T	C	5: 112,878,050	T45A	unknown	Het
Myo1e	C	T	9: 70,343,040		probably benign	Het
Olfr1129	A	G	2: 87,575,479	I132V	probably damaging	Het
Olfr1285	T	A	2: 111,408,733	V106E	probably damaging	Het
Osbp2	A	T	11: 3,717,127	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,519,921	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,487,537	W765R	probably damaging	Het
Phf11c	T	C	14: 59,393,137	T40A	probably benign	Het
Pih1d2	T	A	9: 50,621,877	S268R	probably benign	Het
Pkd1l2	T	C	8: 116,998,174	N2333D	probably damaging	Het
Ptcd2	T	C	13: 99,326,711	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,980,843	V933F	probably damaging	Het
Sphk2	A	G	7: 45,711,056		probably null	Het
Tfcp2	T	G	15: 100,504,439	E492D	probably benign	Het
Ttn	C	T	2: 76,798,762	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,792,687	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,485,557	S158I	probably benign	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
IGL02058:Prex1	APN	2	166585183	missense	probably benign	0.00
IGL02251:Prex1	APN	2	166577886	missense	probably damaging	0.99
IGL02326:Prex1	APN	2	166621185	missense	probably benign	0.35
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
R7915:Prex1	UTSW	2	166621192	missense	probably damaging	1.00
R7971:Prex1	UTSW	2	166581939	missense	probably damaging	1.00
R7998:Prex1	UTSW	2	166587045	critical splice donor site	probably null
R8029:Prex1	UTSW	2	166575603	missense	probably benign	0.01
R8193:Prex1	UTSW	2	166593860	missense	possibly damaging	0.60
R8352:Prex1	UTSW	2	166589573	missense	probably benign	0.05
R8452:Prex1	UTSW	2	166589573	missense	probably benign	0.05
R8927:Prex1	UTSW	2	166585075	missense	probably damaging	0.97
R8928:Prex1	UTSW	2	166585075	missense	probably damaging	0.97
R9021:Prex1	UTSW	2	166590509	missense	possibly damaging	0.47
R9070:Prex1	UTSW	2	166585787	missense	probably damaging	1.00
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

2014-02-04