Mutagenetix > Incidental Mutation

Incidental Mutation 'R5984:Prex1'

481549

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

043251-MU

Accession Numbers

Essential gene?

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

Stock #

R5984 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

166408265-166555752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 166427664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 826 (D826A)

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: D996A

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

SMART Domains

Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: D996A

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: D826A

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

SMART Domains

Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: D826A

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: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,439,165 (GRCm39)	L130F	probably benign	Het
Alox12	T	C	11: 70,137,881 (GRCm39)	T420A	possibly damaging	Het
Ano5	T	C	7: 51,243,412 (GRCm39)	I795T	probably damaging	Het
Atpsckmt	C	T	15: 31,617,065 (GRCm39)	R99*	probably null	Het
Crlf2	G	A	5: 109,703,469 (GRCm39)	P92L	probably damaging	Het
Dgat1	T	C	15: 76,386,458 (GRCm39)	Y492C	probably damaging	Het
Dna2	G	C	10: 62,798,285 (GRCm39)		probably null	Het
Dst	A	G	1: 34,211,344 (GRCm39)	H982R	probably benign	Het
F13b	A	G	1: 139,435,950 (GRCm39)	D252G	probably damaging	Het
Fgfr3	A	T	5: 33,887,049 (GRCm39)	E151V	probably damaging	Het
Gabpb1	T	C	2: 126,488,573 (GRCm39)	T264A	probably damaging	Het
Gemin5	T	C	11: 58,047,587 (GRCm39)	E329G	probably damaging	Het
Git1	C	T	11: 77,397,309 (GRCm39)	P721S	possibly damaging	Het
Hcn3	T	C	3: 89,055,570 (GRCm39)	E559G	probably benign	Het
Invs	G	A	4: 48,421,674 (GRCm39)	A769T	probably benign	Het
Ism2	T	A	12: 87,333,809 (GRCm39)	T79S	possibly damaging	Het
Lamb1	G	A	12: 31,377,773 (GRCm39)	E1673K	possibly damaging	Het
Lmtk2	T	A	5: 144,111,656 (GRCm39)	L792H	probably benign	Het
Lnpk	A	T	2: 74,352,543 (GRCm39)	S380T	probably benign	Het
Mff	A	G	1: 82,708,848 (GRCm39)	I66V	probably benign	Het
Mtor	A	G	4: 148,623,284 (GRCm39)	K2045E	probably benign	Het
Mycbp2	C	A	14: 103,364,120 (GRCm39)	W4393L	probably damaging	Het
Or1e31	T	A	11: 73,690,407 (GRCm39)	M59L	possibly damaging	Het
Or8k32	A	T	2: 86,368,512 (GRCm39)	V249E	probably damaging	Het
Pcdha5	A	G	18: 37,094,733 (GRCm39)	D414G	probably damaging	Het
Pknox2	T	C	9: 36,835,022 (GRCm39)	E149G	probably damaging	Het
Plxdc2	A	G	2: 16,665,666 (GRCm39)	R240G	probably benign	Het
Polr3d	A	T	14: 70,676,927 (GRCm39)	F389Y	possibly damaging	Het
Prss50	T	A	9: 110,691,454 (GRCm39)	S253T	probably damaging	Het
Ptgfrn	T	C	3: 100,957,459 (GRCm39)	D705G	probably damaging	Het
Ptpn21	T	A	12: 98,655,335 (GRCm39)	N544I	probably damaging	Het
Rbm5	G	A	9: 107,622,141 (GRCm39)	P611L	probably damaging	Het
Rev3l	A	T	10: 39,618,685 (GRCm39)		probably benign	Het
Rnf139	T	C	15: 58,770,595 (GRCm39)	Y207H	probably benign	Het
Scn11a	C	T	9: 119,613,082 (GRCm39)	R836H	probably benign	Het
Slc30a1	A	G	1: 191,639,212 (GRCm39)	T32A	probably damaging	Het
Smad4	T	A	18: 73,810,982 (GRCm39)	M1L	probably benign	Het
Sos1	T	C	17: 80,759,561 (GRCm39)	D190G	possibly damaging	Het
Sptbn1	C	T	11: 30,068,464 (GRCm39)	D1677N	probably damaging	Het
Tmem132e	G	A	11: 82,335,923 (GRCm39)	D1002N	probably damaging	Het
Usp8	C	A	2: 126,584,401 (GRCm39)	Q526K	probably benign	Het
Wt1	A	G	2: 105,002,597 (GRCm39)	S488G	probably benign	Het
Zbtb43	A	G	2: 33,344,272 (GRCm39)	S318P	probably benign	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
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
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'- CAGCTGCCATTTGTTGAAAAC -3'
(R):5'- CTTGCTGAAGCCAACTCACG -3'

Sequencing Primer
(F):5'- CCCTACTTAAGAGTACAGACGTGATG -3'
(R):5'- TCAGTTTGCAGCCCAGC -3'

Posted On

2017-06-26