Mutagenetix > Incidental Mutation

Incidental Mutation 'R0927:Prex1'

80473

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

039074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R0927 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

166408265-166555752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 166428457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 925 (A925T)

Ref Sequence

ENSEMBL: ENSMUSP00000037180 (fasta)

Gene Model

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

AlphaFold

Q69ZK0

Predicted Effect

probably benign
Transcript: ENSMUST00000036719
AA Change: A925T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: A925T

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: A755T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: A755T

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 benign
Transcript: ENSMUST00000109246

SMART Domains

Protein: ENSMUSP00000104869
Gene: ENSMUSG00000039621

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,607,317 (GRCm39)	L363P	probably damaging	Het
Adam12	T	A	7: 133,599,959 (GRCm39)	H85L	probably damaging	Het
Adam34	A	T	8: 44,104,621 (GRCm39)	H341Q	probably damaging	Het
Adam34l	A	T	8: 44,078,160 (GRCm39)	M688K	probably benign	Het
Adam7	A	G	14: 68,754,133 (GRCm39)	L322P	probably damaging	Het
Adcy5	T	A	16: 34,976,613 (GRCm39)	S49T	probably benign	Het
Arfgap2	T	C	2: 91,104,150 (GRCm39)	S374P	probably benign	Het
Arpp19	G	A	9: 74,944,967 (GRCm39)		probably benign	Het
Baz1a	T	C	12: 54,941,773 (GRCm39)	K1478E	probably damaging	Het
Cdc27	G	T	11: 104,396,467 (GRCm39)	A812E	possibly damaging	Het
Chtf8	G	A	8: 107,612,150 (GRCm39)	T263I	probably damaging	Het
Clcn6	T	C	4: 148,113,849 (GRCm39)	N70D	probably benign	Het
Cntnap5c	A	T	17: 58,349,553 (GRCm39)	T289S	possibly damaging	Het
Dzip3	T	C	16: 48,795,840 (GRCm39)	N177S	probably damaging	Het
Edar	G	T	10: 58,465,313 (GRCm39)		probably null	Het
Enam	T	A	5: 88,641,919 (GRCm39)	N244K	possibly damaging	Het
Fbxw10	A	G	11: 62,767,770 (GRCm39)	K874E	probably damaging	Het
Glra3	A	G	8: 56,578,239 (GRCm39)	E432G	possibly damaging	Het
Grin3b	G	A	10: 79,807,062 (GRCm39)	R110Q	probably benign	Het
Herc3	T	A	6: 58,845,748 (GRCm39)	V423D	possibly damaging	Het
Ifit2	A	T	19: 34,550,984 (GRCm39)	T175S	probably benign	Het
Kcnj8	T	G	6: 142,511,627 (GRCm39)	I327L	possibly damaging	Het
Kcns2	A	T	15: 34,839,242 (GRCm39)	I202F	probably benign	Het
Kif12	T	C	4: 63,087,010 (GRCm39)	R305G	possibly damaging	Het
Limch1	A	G	5: 67,154,576 (GRCm39)	D362G	probably damaging	Het
Lrba	T	C	3: 86,687,540 (GRCm39)	I2815T	probably damaging	Het
Lrrtm1	G	T	6: 77,221,843 (GRCm39)	M433I	probably damaging	Het
Myh7b	A	G	2: 155,462,040 (GRCm39)	D312G	probably damaging	Het
Nrxn1	A	T	17: 90,344,758 (GRCm39)	I382N	probably damaging	Het
Nudt6	C	T	3: 37,459,502 (GRCm39)	R161H	probably benign	Het
Or10w1	T	A	19: 13,631,816 (GRCm39)	W8R	probably damaging	Het
Or11g2	A	C	14: 50,856,044 (GRCm39)	M122L	possibly damaging	Het
Or4m1	A	T	14: 50,558,186 (GRCm39)	Y35*	probably null	Het
Or7e166	C	T	9: 19,624,945 (GRCm39)	A274V	probably benign	Het
Pmf1	A	T	3: 88,303,369 (GRCm39)	V64D	probably damaging	Het
Pomgnt1	T	A	4: 116,009,048 (GRCm39)	V29D	probably damaging	Het
Pramel22	T	A	4: 143,380,790 (GRCm39)	H411L	possibly damaging	Het
Pramel26	A	T	4: 143,539,378 (GRCm39)	D38E	probably benign	Het
Pus3	A	G	9: 35,476,327 (GRCm39)	Y72C	probably damaging	Het
Rnf20	T	C	4: 49,642,176 (GRCm39)	S247P	probably damaging	Het
Rnf213	T	A	11: 119,305,396 (GRCm39)	D542E	probably benign	Het
Sidt1	T	C	16: 44,063,895 (GRCm39)	D786G	probably benign	Het
Sirt6	A	T	10: 81,458,475 (GRCm39)	D219E	probably damaging	Het
Slc36a2	A	T	11: 55,072,411 (GRCm39)	I67N	probably damaging	Het
Slc47a1	A	G	11: 61,264,248 (GRCm39)	F57S	probably damaging	Het
Spg11	T	A	2: 121,924,968 (GRCm39)	T756S	probably damaging	Het
Sptbn1	C	A	11: 30,071,591 (GRCm39)	R1447L	probably damaging	Het
Tcf7l2	A	G	19: 55,907,387 (GRCm39)	M340V	probably damaging	Het
Thap1	T	C	8: 26,652,733 (GRCm39)	V157A	probably benign	Het
Ubash3b	G	A	9: 40,934,853 (GRCm39)	Q354*	probably null	Het
Ubtd1	G	A	19: 42,020,460 (GRCm39)	W68*	probably null	Het
Wdr64	G	T	1: 175,620,647 (GRCm39)	R793L	probably damaging	Het
Zbtb24	C	T	10: 41,327,432 (GRCm39)	T106I	probably benign	Het
Zbtb26	T	C	2: 37,326,337 (GRCm39)	N233S	possibly damaging	Het
Zcchc24	A	T	14: 25,757,585 (GRCm39)	N99K	possibly 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
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
R4955:Prex1	UTSW	2	166,415,143 (GRCm39)	missense	probably damaging	0.99
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'- TACAATGCTTGAGGCAGGGCAG -3'
(R):5'- AATGGGTGTGTCACAGTCCCAATC -3'

Sequencing Primer
(F):5'- GTGAATCCATCTTGACAGCG -3'
(R):5'- cggtataaaaaggctccccac -3'

Posted On

2013-11-07