Mutagenetix > Incidental Mutation

Incidental Mutation 'R4955:Prex1'

381519

Institutional Source

Beutler Lab

Gene Symbol

Prex1

Ensembl Gene

ENSMUSG00000039621

Gene Name

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

Synonyms

P-REX1

MMRRC Submission

042552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R4955 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

166408265-166555752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166415143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 251 (F251S)

Ref Sequence

ENSEMBL: ENSMUSP00000104869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036719] [ENSMUST00000099080] [ENSMUST00000109246]

AlphaFold

Q69ZK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000036719
AA Change: F1439S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: F1439S

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: F1269S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: F1269S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109246
AA Change: F251S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104869
Gene: ENSMUSG00000039621
AA Change: F251S

Domain	Start	End	E-Value	Type
low complexity region	357	367	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136974

Meta Mutation Damage Score

0.8349

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (50/50)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
4933407L21Rik	T	A	1: 85,859,008 (GRCm39)		probably benign	Het
Abca8a	T	G	11: 109,927,338 (GRCm39)	E1338D	probably benign	Het
Arl2bp	G	A	8: 95,397,056 (GRCm39)		probably null	Het
Arsj	T	C	3: 126,232,189 (GRCm39)	Y312H	probably benign	Het
Atp8b2	G	T	3: 89,860,227 (GRCm39)		probably benign	Het
Cdh20	T	C	1: 104,912,528 (GRCm39)	V594A	probably damaging	Het
Cfap44	T	A	16: 44,295,640 (GRCm39)	V1646E	possibly damaging	Het
Csmd3	A	T	15: 48,536,914 (GRCm39)	I96K	probably damaging	Het
Fbn2	T	C	18: 58,191,455 (GRCm39)	Q1556R	possibly damaging	Het
Fstl5	T	A	3: 76,131,183 (GRCm39)		probably null	Het
H4c9	T	A	13: 22,225,355 (GRCm39)	I47F	probably damaging	Het
Hivep2	T	A	10: 14,006,702 (GRCm39)	M1100K	probably benign	Het
Ing4	C	T	6: 125,025,164 (GRCm39)	A225V	probably damaging	Het
Kcnc3	CTT	CT	7: 44,240,720 (GRCm39)		probably null	Het
Khdrbs2	T	A	1: 32,559,158 (GRCm39)		probably benign	Het
Kif21a	A	T	15: 90,821,393 (GRCm39)	W1566R	probably damaging	Het
Lrfn5	A	C	12: 61,886,764 (GRCm39)	D184A	probably benign	Het
Mettl2	C	T	11: 105,028,605 (GRCm39)	T319I	possibly damaging	Het
Mgrn1	T	C	16: 4,752,083 (GRCm39)	V529A	probably benign	Het
Naca	T	A	10: 127,878,084 (GRCm39)		probably benign	Het
Ninj2	A	G	6: 120,174,907 (GRCm39)	N26S	probably damaging	Het
Nqo1	A	G	8: 108,115,489 (GRCm39)	S263P	probably benign	Het
Obscn	T	C	11: 58,959,998 (GRCm39)	T3566A	probably benign	Het
Opn5	A	T	17: 42,922,129 (GRCm39)	F24L	probably damaging	Het
Or14j8	T	C	17: 38,263,789 (GRCm39)	N42S	probably damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4k41	A	T	2: 111,279,950 (GRCm39)	H155L	probably damaging	Het
Or52a20	A	T	7: 103,365,912 (GRCm39)	Y37F	probably benign	Het
Palmd	A	G	3: 116,717,873 (GRCm39)	V208A	probably damaging	Het
Plekhd1	T	A	12: 80,768,795 (GRCm39)	I426N	possibly damaging	Het
Polq	T	G	16: 36,881,444 (GRCm39)	Y1203D	probably benign	Het
Prkd3	T	C	17: 79,260,156 (GRCm39)	M816V	probably null	Het
Rab3gap2	C	T	1: 184,999,352 (GRCm39)		probably benign	Het
Rcan2	C	A	17: 44,347,972 (GRCm39)	P13Q	probably damaging	Het
Slc35b3	A	G	13: 39,116,866 (GRCm39)	V329A	probably benign	Het
Slc5a1	T	C	5: 33,318,246 (GRCm39)	M633T	probably benign	Het
Stac2	A	C	11: 97,934,374 (GRCm39)	L110R	possibly damaging	Het
Styxl2	T	C	1: 165,935,661 (GRCm39)	Y179C	probably damaging	Het
Tecpr1	T	C	5: 144,154,075 (GRCm39)	E126G	probably damaging	Het
Ttll6	A	G	11: 96,029,615 (GRCm39)	D176G	possibly damaging	Het
Utrn	C	T	10: 12,737,311 (GRCm39)		probably null	Het
Zfp341	T	C	2: 154,479,950 (GRCm39)	V467A	probably damaging	Het

Other mutations in Prex1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Prex1	APN	2	166,480,321 (GRCm39)	missense	probably damaging	1.00
IGL00309:Prex1	APN	2	166,451,743 (GRCm39)	missense	probably damaging	0.99
IGL00953:Prex1	APN	2	166,480,329 (GRCm39)	missense	probably damaging	1.00
IGL00961:Prex1	APN	2	166,427,656 (GRCm39)	missense	probably damaging	0.98
IGL01300:Prex1	APN	2	166,480,327 (GRCm39)	missense	possibly damaging	0.46
IGL01318:Prex1	APN	2	166,411,260 (GRCm39)	splice site	probably benign
IGL01753:Prex1	APN	2	166,444,802 (GRCm39)	missense	probably benign	0.11
IGL01819:Prex1	APN	2	166,463,165 (GRCm39)	missense	probably damaging	1.00
IGL02058:Prex1	APN	2	166,427,103 (GRCm39)	missense	probably benign	0.00
IGL02251:Prex1	APN	2	166,419,806 (GRCm39)	missense	probably damaging	0.99
IGL02326:Prex1	APN	2	166,463,105 (GRCm39)	missense	probably benign	0.35
IGL02366:Prex1	APN	2	166,422,347 (GRCm39)	missense	probably damaging	1.00
IGL02414:Prex1	APN	2	166,451,748 (GRCm39)	missense	probably damaging	1.00
IGL02660:Prex1	APN	2	166,435,787 (GRCm39)	missense	probably damaging	0.97
IGL02666:Prex1	APN	2	166,414,909 (GRCm39)	missense	probably benign	0.00
IGL02874:Prex1	APN	2	166,426,967 (GRCm39)	missense	probably damaging	1.00
IGL02935:Prex1	APN	2	166,412,265 (GRCm39)	missense	probably damaging	1.00
IGL03179:Prex1	APN	2	166,427,114 (GRCm39)	missense	probably benign	0.31
R0207:Prex1	UTSW	2	166,427,818 (GRCm39)	missense	possibly damaging	0.92
R0415:Prex1	UTSW	2	166,428,619 (GRCm39)	unclassified	probably benign
R0420:Prex1	UTSW	2	166,431,491 (GRCm39)	missense	probably benign	0.13
R0449:Prex1	UTSW	2	166,411,297 (GRCm39)	missense	probably benign	0.16
R0458:Prex1	UTSW	2	166,427,743 (GRCm39)	missense	probably damaging	0.99
R0927:Prex1	UTSW	2	166,428,457 (GRCm39)	missense	probably benign	0.01
R1299:Prex1	UTSW	2	166,427,827 (GRCm39)	missense	possibly damaging	0.62
R1414:Prex1	UTSW	2	166,435,781 (GRCm39)	missense	probably damaging	1.00
R1440:Prex1	UTSW	2	166,422,383 (GRCm39)	missense	probably damaging	0.98
R1506:Prex1	UTSW	2	166,429,001 (GRCm39)	missense	probably damaging	1.00
R1725:Prex1	UTSW	2	166,443,656 (GRCm39)	missense	probably damaging	1.00
R1831:Prex1	UTSW	2	166,427,021 (GRCm39)	missense	probably damaging	1.00
R1883:Prex1	UTSW	2	166,425,192 (GRCm39)	missense	probably benign	0.20
R1896:Prex1	UTSW	2	166,428,574 (GRCm39)	missense	probably benign	0.01
R2022:Prex1	UTSW	2	166,417,534 (GRCm39)	missense	possibly damaging	0.80
R2091:Prex1	UTSW	2	166,411,285 (GRCm39)	missense	possibly damaging	0.95
R2258:Prex1	UTSW	2	166,429,077 (GRCm39)	missense	probably benign	0.00
R2263:Prex1	UTSW	2	166,430,988 (GRCm39)	splice site	probably benign
R2276:Prex1	UTSW	2	166,419,875 (GRCm39)	missense	probably benign	0.34
R2279:Prex1	UTSW	2	166,419,875 (GRCm39)	missense	probably benign	0.34
R2680:Prex1	UTSW	2	166,443,692 (GRCm39)	missense	possibly damaging	0.92
R3024:Prex1	UTSW	2	166,430,956 (GRCm39)	missense	probably benign	0.04
R3421:Prex1	UTSW	2	166,459,774 (GRCm39)	missense	probably damaging	1.00
R3614:Prex1	UTSW	2	166,451,701 (GRCm39)	missense	probably damaging	1.00
R4244:Prex1	UTSW	2	166,412,256 (GRCm39)	missense	probably damaging	1.00
R4605:Prex1	UTSW	2	166,555,464 (GRCm39)	missense	probably benign	0.45
R4685:Prex1	UTSW	2	166,480,252 (GRCm39)	missense	probably damaging	0.97
R4787:Prex1	UTSW	2	166,480,260 (GRCm39)	missense	probably benign	0.01
R4796:Prex1	UTSW	2	166,434,211 (GRCm39)	missense	probably damaging	1.00
R4825:Prex1	UTSW	2	166,427,777 (GRCm39)	nonsense	probably null
R5046:Prex1	UTSW	2	166,414,883 (GRCm39)	missense	probably benign	0.00
R5095:Prex1	UTSW	2	166,423,841 (GRCm39)	missense	probably damaging	1.00
R5408:Prex1	UTSW	2	166,417,573 (GRCm39)	small insertion	probably benign
R5462:Prex1	UTSW	2	166,486,728 (GRCm39)	missense	probably benign	0.02
R5535:Prex1	UTSW	2	166,422,193 (GRCm39)	missense	possibly damaging	0.80
R5777:Prex1	UTSW	2	166,428,579 (GRCm39)	missense	probably damaging	1.00
R5813:Prex1	UTSW	2	166,425,127 (GRCm39)	missense	probably benign
R5860:Prex1	UTSW	2	166,486,604 (GRCm39)	intron	probably benign
R5984:Prex1	UTSW	2	166,427,664 (GRCm39)	missense	probably damaging	1.00
R6009:Prex1	UTSW	2	166,423,904 (GRCm39)	missense	probably damaging	1.00
R6174:Prex1	UTSW	2	166,414,883 (GRCm39)	missense	probably benign	0.00
R6345:Prex1	UTSW	2	166,414,880 (GRCm39)	missense	probably null	0.81
R6897:Prex1	UTSW	2	166,423,913 (GRCm39)	missense	probably damaging	0.99
R6935:Prex1	UTSW	2	166,441,575 (GRCm39)	missense	probably damaging	1.00
R7025:Prex1	UTSW	2	166,455,107 (GRCm39)	small insertion	probably benign
R7037:Prex1	UTSW	2	166,429,100 (GRCm39)	missense	probably benign	0.05
R7076:Prex1	UTSW	2	166,475,302 (GRCm39)	missense	probably damaging	0.99
R7181:Prex1	UTSW	2	166,412,291 (GRCm39)	missense	probably damaging	1.00
R7361:Prex1	UTSW	2	166,555,490 (GRCm39)	missense	probably benign	0.04
R7381:Prex1	UTSW	2	166,429,047 (GRCm39)	missense	probably damaging	1.00
R7721:Prex1	UTSW	2	166,419,810 (GRCm39)	nonsense	probably null
R7763:Prex1	UTSW	2	166,555,629 (GRCm39)	missense	unknown
R7809:Prex1	UTSW	2	166,415,164 (GRCm39)	missense	possibly damaging	0.91
R7915:Prex1	UTSW	2	166,463,112 (GRCm39)	missense	probably damaging	1.00
R7971:Prex1	UTSW	2	166,423,859 (GRCm39)	missense	probably damaging	1.00
R7998:Prex1	UTSW	2	166,428,965 (GRCm39)	critical splice donor site	probably null
R8029:Prex1	UTSW	2	166,417,523 (GRCm39)	missense	probably benign	0.01
R8193:Prex1	UTSW	2	166,435,780 (GRCm39)	missense	possibly damaging	0.60
R8352:Prex1	UTSW	2	166,431,493 (GRCm39)	missense	probably benign	0.05
R8452:Prex1	UTSW	2	166,431,493 (GRCm39)	missense	probably benign	0.05
R8927:Prex1	UTSW	2	166,426,995 (GRCm39)	missense	probably damaging	0.97
R8928:Prex1	UTSW	2	166,426,995 (GRCm39)	missense	probably damaging	0.97
R9021:Prex1	UTSW	2	166,432,429 (GRCm39)	missense	possibly damaging	0.47
R9070:Prex1	UTSW	2	166,427,707 (GRCm39)	missense	probably damaging	1.00
R9213:Prex1	UTSW	2	166,417,669 (GRCm39)	missense	probably damaging	0.99
R9511:Prex1	UTSW	2	166,413,481 (GRCm39)	missense	probably damaging	1.00
R9514:Prex1	UTSW	2	166,419,896 (GRCm39)	missense	possibly damaging	0.53
R9529:Prex1	UTSW	2	166,431,518 (GRCm39)	missense	probably damaging	1.00
X0065:Prex1	UTSW	2	166,428,545 (GRCm39)	missense	probably benign
Z1176:Prex1	UTSW	2	166,414,890 (GRCm39)	nonsense	probably null
Z1177:Prex1	UTSW	2	166,434,148 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GACTGTGCGTTGATCTCCTG -3'
(R):5'- AAATTCCAGCATGCCACCTG -3'

Sequencing Primer
(F):5'- GCGTTGATCTCCTGCTGCAG -3'
(R):5'- AGAGTCTGAGGCTACCCCTGTG -3'

Posted On

2016-04-27