Mutagenetix > Incidental Mutation

Incidental Mutation 'R5777:Prex1'

446747

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

Accession Numbers

Essential gene?

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

Stock #

R5777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166408265-166555752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166428579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 714 (D714G)

Ref Sequence

ENSEMBL: ENSMUSP00000096679 (fasta)

Gene Model

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

AlphaFold

Q69ZK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000036719
AA Change: D884G

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

SMART Domains

Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: D884G

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: D714G

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

SMART Domains

Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: D714G

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: 97.5%
20x: 95.8%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Amph	A	T	13: 19,230,186 (GRCm39)	N45Y	probably damaging	Het
Atp11a	T	A	8: 12,882,522 (GRCm39)	L470Q	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,946 (GRCm39)	Y76F	possibly damaging	Het
Casp12	A	T	9: 5,354,548 (GRCm39)	I306F	probably benign	Het
Cobll1	A	T	2: 64,933,612 (GRCm39)	M460K	probably benign	Het
Col6a4	A	T	9: 105,890,895 (GRCm39)	L1800I	possibly damaging	Het
Ctdsp1	T	C	1: 74,433,227 (GRCm39)	V131A	probably damaging	Het
Ctnna3	A	G	10: 64,511,664 (GRCm39)	H618R	probably benign	Het
Dhx38	C	A	8: 110,283,534 (GRCm39)	V538L	possibly damaging	Het
Dtwd1	A	G	2: 126,001,733 (GRCm39)	D151G	probably damaging	Het
Fbxw28	A	G	9: 109,167,604 (GRCm39)	L51P	probably damaging	Het
Gm4781	C	T	10: 100,232,831 (GRCm39)		noncoding transcript	Het
Gm5134	C	A	10: 75,840,594 (GRCm39)	F479L	probably benign	Het
H2bc27	A	G	11: 58,839,835 (GRCm39)	K24E	probably benign	Het
Hexa	T	G	9: 59,468,243 (GRCm39)	V290G	probably damaging	Het
Ifi206	C	T	1: 173,308,928 (GRCm39)	R356K	possibly damaging	Het
Kcnj12	G	A	11: 60,961,277 (GRCm39)	R525Q	possibly damaging	Het
Lrp2	A	T	2: 69,285,869 (GRCm39)	I3774N	probably damaging	Het
Msh4	C	A	3: 153,569,076 (GRCm39)	M832I	probably benign	Het
Myh10	A	G	11: 68,676,685 (GRCm39)	E852G	probably damaging	Het
Ndufaf1	A	T	2: 119,490,963 (GRCm39)	C32*	probably null	Het
Nos2	A	G	11: 78,830,978 (GRCm39)	E387G	probably null	Het
Or4f58	C	T	2: 111,851,876 (GRCm39)	G108R	probably damaging	Het
Or55b10	A	G	7: 102,143,178 (GRCm39)	V268A	probably benign	Het
Or5h27	T	A	16: 59,006,266 (GRCm39)	L193F	unknown	Het
Or7a36	A	C	10: 78,820,512 (GRCm39)	D296A	possibly damaging	Het
Or7g29	A	T	9: 19,287,014 (GRCm39)	H54Q	probably benign	Het
Or8j3c	A	G	2: 86,253,669 (GRCm39)	V117A	probably benign	Het
P3h3	T	C	6: 124,832,921 (GRCm39)	T211A	probably benign	Het
Pcdh7	A	G	5: 57,876,856 (GRCm39)	N137S	probably damaging	Het
Pgf	T	C	12: 85,216,148 (GRCm39)	T157A	possibly damaging	Het
Scn7a	T	C	2: 66,522,913 (GRCm39)	I930M	probably damaging	Het
Siglecg	T	C	7: 43,058,837 (GRCm39)	S197P	possibly damaging	Het
Skint7	T	A	4: 111,845,289 (GRCm39)	I367N	probably benign	Het
Slfn5	A	T	11: 82,851,830 (GRCm39)	D652V	probably damaging	Het
Stx1b	G	A	7: 127,410,090 (GRCm39)	Q3*	probably null	Het
Tex35	T	C	1: 156,934,777 (GRCm39)	M46V	probably benign	Het
Tkt	A	C	14: 30,280,733 (GRCm39)	T55P	possibly damaging	Het
Trim30c	T	C	7: 104,032,538 (GRCm39)	R263G	probably benign	Het
U2af2	G	A	7: 5,069,450 (GRCm39)	R33Q	probably benign	Het
Washc4	T	A	10: 83,391,469 (GRCm39)	V182D	probably damaging	Het
Xirp2	T	C	2: 67,340,348 (GRCm39)	V863A	possibly damaging	Het
Zfp976	T	G	7: 42,263,504 (GRCm39)	H111P	probably benign	Het
Zfp982	A	T	4: 147,595,321 (GRCm39)	N48Y	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
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
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'- CTTAGCTGAGACGCTGTAAGCAG -3'
(R):5'- CTTACCCCAGTGCTCATCAG -3'

Sequencing Primer
(F):5'- GCTTGGTGTCACAGATGTT -3'
(R):5'- TCATCAGCAGCAGGACCAGG -3'

Posted On

2016-12-15