Mutagenetix > Incidental Mutation

Incidental Mutation 'R7721:Prex1'

595209

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

045777-MU

Accession Numbers

Essential gene?

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

Stock #

R7721 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166408265-166555752 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 166419810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1289 (Q1289*)

Ref Sequence

ENSEMBL: ENSMUSP00000037180 (fasta)

Gene Model

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

AlphaFold

Q69ZK0

Predicted Effect

probably null
Transcript: ENSMUST00000036719
AA Change: Q1289*

SMART Domains

Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: Q1289*

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 null
Transcript: ENSMUST00000099080
AA Change: Q1119*

SMART Domains

Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: Q1119*

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 null
Transcript: ENSMUST00000109246
AA Change: Q101*

SMART Domains

Protein: ENSMUSP00000104869
Gene: ENSMUSG00000039621
AA Change: Q101*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	C	5: 121,784,929 (GRCm39)		probably null	Het
Adamtsl3	T	G	7: 82,255,728 (GRCm39)	M1580R	possibly damaging	Het
Alg9	T	C	9: 50,687,942 (GRCm39)	I78T	probably damaging	Het
Ankmy2	G	T	12: 36,207,143 (GRCm39)		probably benign	Het
Ankrd11	G	T	8: 123,621,498 (GRCm39)	L785M	probably damaging	Het
Atrnl1	T	A	19: 57,684,763 (GRCm39)	D796E	probably benign	Het
C1s2	A	G	6: 124,607,017 (GRCm39)	V277A	possibly damaging	Het
Ccdc121rt3	A	G	5: 112,503,383 (GRCm39)	I107T	probably benign	Het
Cldn15	A	G	5: 136,997,015 (GRCm39)	M19V	probably benign	Het
Cldn23	T	G	8: 36,293,417 (GRCm39)	S24R	possibly damaging	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Csf2ra	A	T	19: 61,215,024 (GRCm39)	W147R	probably damaging	Het
Ctsb	G	T	14: 63,370,765 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,088,874 (GRCm39)	M34T	probably benign	Het
Dmtf1	T	C	5: 9,176,564 (GRCm39)	I463V	probably damaging	Het
Dnah7a	T	A	1: 53,670,842 (GRCm39)	D470V	probably benign	Het
Dtx4	A	G	19: 12,459,500 (GRCm39)	S435P	probably benign	Het
Ear2	T	A	14: 44,340,495 (GRCm39)	M51K	probably damaging	Het
Efcab3	T	A	11: 104,615,366 (GRCm39)	L711*	probably null	Het
Elmo1	T	A	13: 20,464,973 (GRCm39)		probably null	Het
Faf1	T	A	4: 109,593,794 (GRCm39)	I124N	probably damaging	Het
Gkap1	A	C	13: 58,384,799 (GRCm39)		probably null	Het
Glipr2	T	C	4: 43,957,770 (GRCm39)	S4P	probably benign	Het
Gm38119	A	T	3: 92,645,337 (GRCm39)	C86S	unknown	Het
Gpr171	T	G	3: 59,005,320 (GRCm39)	I152L	probably benign	Het
Hes7	T	A	11: 69,012,352 (GRCm39)	T9S	unknown	Het
Homer3	T	C	8: 70,743,662 (GRCm39)	V180A	probably benign	Het
Irx1	T	A	13: 72,108,176 (GRCm39)	M169L	probably benign	Het
Kap	A	G	6: 133,828,690 (GRCm39)		probably null	Het
Mgat5b	A	G	11: 116,857,627 (GRCm39)	M2V		Het
Mob4	C	T	1: 55,187,479 (GRCm39)	Q76*	probably null	Het
Or10w3	T	A	19: 13,704,207 (GRCm39)	I194N	possibly damaging	Het
Or8b47	A	T	9: 38,435,013 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,096,056 (GRCm39)	D191G	probably benign	Het
Pate14	C	T	9: 36,549,159 (GRCm39)	G34R	possibly damaging	Het
Pcdha9	A	T	18: 37,132,689 (GRCm39)	Q586L	probably benign	Het
Pgk2	T	A	17: 40,518,409 (GRCm39)	I340F	probably benign	Het
Prr22	A	G	17: 57,078,819 (GRCm39)	D324G	possibly damaging	Het
Rab2b	A	T	14: 52,501,217 (GRCm39)	S201T	probably benign	Het
Rdh1	T	A	10: 127,596,121 (GRCm39)		probably null	Het
Rhbdl1	G	T	17: 26,055,123 (GRCm39)	N82K	probably benign	Het
Rspo1	C	A	4: 124,885,210 (GRCm39)	Q29K	possibly damaging	Het
Rtp3	A	T	9: 110,814,948 (GRCm39)	Y472*	probably null	Het
Senp5	T	A	16: 31,809,252 (GRCm39)	M1L	unknown	Het
Slfn4	A	T	11: 83,078,389 (GRCm39)		probably null	Het
Stab1	A	G	14: 30,863,413 (GRCm39)	V2091A	possibly damaging	Het
Stk32c	A	G	7: 138,768,069 (GRCm39)	S71P	possibly damaging	Het
Tpr	A	G	1: 150,320,180 (GRCm39)	T2243A	probably benign	Het
Tubgcp6	A	T	15: 88,985,604 (GRCm39)	N1544K	probably damaging	Het
Uqcc1	T	C	2: 155,700,066 (GRCm39)	N202S	probably benign	Het
Vmn2r18	C	T	5: 151,510,158 (GRCm39)	E72K	possibly damaging	Het
Zfp654	C	A	16: 64,606,570 (GRCm39)	C3F	probably damaging	Het
Zfp804b	T	C	5: 6,821,263 (GRCm39)	E600G	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
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
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
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'- AAGCCTCAGTAGAAATGGCCC -3'
(R):5'- ACCCATCAGTTTCCTTGACATAGG -3'

Sequencing Primer
(F):5'- CCATTTCCATGGGTCCTCTAG -3'
(R):5'- CCTTGACATAGGGTAGTGAGC -3'

Posted On

2019-11-12