Incidental Mutation 'R5813:Prex1'
ID 447598
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: 0.188) question?
Stock # R5813 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 166408265-166555752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166425127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 960 (T960A)
Ref Sequence ENSEMBL: ENSMUSP00000096679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036719] [ENSMUST00000099080] [ENSMUST00000109246]
AlphaFold Q69ZK0
Predicted Effect probably benign
Transcript: ENSMUST00000036719
AA Change: T1130A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: T1130A

DomainStartEndE-ValueType
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: T960A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: T960A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 357 367 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 A G 3: 89,253,135 (GRCm39) Y230H probably benign Het
Ano7 G T 1: 93,312,641 (GRCm39) probably null Het
Arap2 T C 5: 62,834,506 (GRCm39) Y792C probably damaging Het
Art3 C A 5: 92,560,100 (GRCm39) probably benign Het
Atad2 C T 15: 57,963,250 (GRCm39) G1085D probably benign Het
Birc6 C A 17: 74,953,497 (GRCm39) A3253E probably damaging Het
C9 C T 15: 6,526,607 (GRCm39) P547L probably benign Het
Cecr2 T C 6: 120,739,169 (GRCm39) S1271P probably damaging Het
Ces1e T A 8: 93,948,305 (GRCm39) K105* probably null Het
Cpsf4 A G 5: 145,115,683 (GRCm39) N204S probably benign Het
Cracd A G 5: 77,006,275 (GRCm39) T879A unknown Het
Dgkz T C 2: 91,769,733 (GRCm39) D615G possibly damaging Het
Disp1 G T 1: 182,869,974 (GRCm39) N815K probably damaging Het
Enah A G 1: 181,758,750 (GRCm39) probably benign Het
Fcgbp A G 7: 27,800,919 (GRCm39) T1322A possibly damaging Het
Frem1 A G 4: 82,918,395 (GRCm39) F516L probably damaging Het
Fry G A 5: 150,323,136 (GRCm39) A1096T probably damaging Het
Fyco1 T C 9: 123,660,413 (GRCm39) Y190C probably damaging Het
Gfra1 T C 19: 58,227,687 (GRCm39) D417G probably benign Het
Gigyf2 T C 1: 87,368,485 (GRCm39) I1055T probably damaging Het
Invs A G 4: 48,398,146 (GRCm39) E444G probably damaging Het
Itga10 A G 3: 96,559,901 (GRCm39) T519A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kdm2b A G 5: 123,009,931 (GRCm39) S727P probably benign Het
Kidins220 A T 12: 25,107,139 (GRCm39) K1531* probably null Het
Ksr1 C T 11: 78,929,024 (GRCm39) V266M probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lipi T C 16: 75,370,798 (GRCm39) R140G possibly damaging Het
Lrrc32 T C 7: 98,147,618 (GRCm39) S133P probably damaging Het
Map3k7 T A 4: 31,964,318 (GRCm39) I19N probably damaging Het
Marf1 A G 16: 13,970,449 (GRCm39) V90A probably benign Het
Mark3 T C 12: 111,621,877 (GRCm39) L673P probably damaging Het
Meis1 T C 11: 18,966,229 (GRCm39) H48R probably benign Het
Mettl26 G A 17: 26,094,995 (GRCm39) V87M probably damaging Het
Mknk2 T C 10: 80,511,696 (GRCm39) R5G probably benign Het
Mtcl3 G T 10: 29,026,240 (GRCm39) V441F probably damaging Het
Mterf1b T C 5: 4,246,956 (GRCm39) V199A possibly damaging Het
Ncs1 T A 2: 31,170,666 (GRCm39) probably null Het
Nek10 T C 14: 14,986,704 (GRCm38) V1014A probably benign Het
Notch2 A G 3: 98,042,744 (GRCm39) N1370D probably benign Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Opn5 C G 17: 42,903,897 (GRCm39) R146T probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or8b55 T A 9: 38,726,952 (GRCm39) M51K probably benign Het
Or8g33 A G 9: 39,338,032 (GRCm39) C112R probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pcyox1l C T 18: 61,832,359 (GRCm39) probably null Het
Plxnb2 T C 15: 89,044,962 (GRCm39) T1128A possibly damaging Het
Prkaa2 A C 4: 104,893,291 (GRCm39) *553G probably null Het
Rasgrp4 A G 7: 28,844,639 (GRCm39) D297G probably damaging Het
Sdf4 G A 4: 156,083,856 (GRCm39) V109I probably benign Het
Serpinb3d T C 1: 107,007,027 (GRCm39) K227R probably benign Het
Sgsm1 A T 5: 113,398,822 (GRCm39) I750N probably damaging Het
Shtn1 T A 19: 59,020,673 (GRCm39) K183M probably damaging Het
Skic3 A G 13: 76,303,852 (GRCm39) T1257A probably benign Het
Slc22a30 T C 19: 8,381,945 (GRCm39) T109A probably benign Het
Slco1c1 A G 6: 141,487,929 (GRCm39) D99G probably damaging Het
Tcf25 T A 8: 124,122,354 (GRCm39) probably null Het
Tex10 A G 4: 48,452,928 (GRCm39) V677A probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Trappc10 T A 10: 78,058,573 (GRCm39) N136I probably damaging Het
Trpt1 T C 19: 6,975,906 (GRCm39) F173L probably benign Het
Ube4b G A 4: 149,421,925 (GRCm39) R955C probably damaging Het
Usp34 C A 11: 23,371,340 (GRCm39) P1840T probably benign Het
Vmn1r27 A T 6: 58,192,985 (GRCm39) N6K possibly damaging Het
Wdr25 T C 12: 108,993,347 (GRCm39) V521A possibly damaging Het
Wdr64 G A 1: 175,639,623 (GRCm39) E1031K possibly damaging Het
Wnt10a A G 1: 74,839,755 (GRCm39) N147S probably damaging Het
Zbed5 T C 5: 129,931,059 (GRCm39) I336T possibly damaging Het
Zfp758 T A 17: 22,594,796 (GRCm39) H427Q probably damaging Het
Zfp961 C A 8: 72,722,070 (GRCm39) H194Q probably damaging Het
Other mutations in Prex1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGGGAAATGCCACAGTCTTG -3'
(R):5'- TCTCACTGTGGAGTCAGAGATG -3'

Sequencing Primer
(F):5'- GGGAAATGCCACAGTCTTGACTTTC -3'
(R):5'- TGAAGCCTGCTCTTTGATGAG -3'
Posted On 2016-12-15