Incidental Mutation 'R2258:Prex1'
ID 243511
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 040258-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R2258 (G1)
Quality Score 219
Status Not validated
Chromosome 2
Chromosomal Location 166408265-166555752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 166429077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 839 (V839I)
Ref Sequence ENSEMBL: ENSMUSP00000037180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036719] [ENSMUST00000099080]
AlphaFold Q69ZK0
Predicted Effect probably benign
Transcript: ENSMUST00000036719
AA Change: V839I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: V839I

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: V669I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: V669I

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,207,267 (GRCm39) N308S possibly damaging Het
Acot5 A T 12: 84,122,643 (GRCm39) H409L possibly damaging Het
Ang4 A G 14: 52,001,955 (GRCm39) probably benign Het
Ap3d1 A G 10: 80,556,966 (GRCm39) S315P probably benign Het
Arhgap15 G A 2: 44,276,359 (GRCm39) G437R probably damaging Het
Cacna2d1 T C 5: 16,562,287 (GRCm39) C810R probably damaging Het
Capn5 A G 7: 97,785,082 (GRCm39) W131R probably damaging Het
Ccnj A G 19: 40,834,277 (GRCm39) Q292R probably benign Het
Cd177 A G 7: 24,455,661 (GRCm39) V287A possibly damaging Het
Cdk5r2 T C 1: 74,895,059 (GRCm39) L268P probably damaging Het
Cfap251 C G 5: 123,421,411 (GRCm39) probably null Het
Clrn2 A G 5: 45,611,304 (GRCm39) D51G probably benign Het
Cntd1 T C 11: 101,175,682 (GRCm39) S174P probably damaging Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Col17a1 C T 19: 47,669,816 (GRCm39) probably null Het
Cyp2a5 A G 7: 26,536,528 (GRCm39) D169G possibly damaging Het
Cyp2c37 A G 19: 39,984,303 (GRCm39) I264V possibly damaging Het
Cyp2j12 A G 4: 96,021,315 (GRCm39) I97T probably damaging Het
Dipk1b T C 2: 26,525,162 (GRCm39) L157P probably damaging Het
Eif3b T C 5: 140,413,258 (GRCm39) F354L possibly damaging Het
Eif4a3l1 A T 6: 136,305,559 (GRCm39) M7L probably benign Het
Entpd2 C T 2: 25,288,099 (GRCm39) P108S probably damaging Het
F5 T A 1: 164,019,750 (GRCm39) S742T probably damaging Het
Fam187a A G 11: 102,776,124 (GRCm39) probably benign Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fndc3b G T 3: 27,494,309 (GRCm39) Q939K possibly damaging Het
Gja4 C A 4: 127,206,623 (GRCm39) D47Y probably damaging Het
Gm11565 T G 11: 99,805,844 (GRCm39) C79G possibly damaging Het
Gpbar1 T C 1: 74,318,164 (GRCm39) F136L probably benign Het
Gsn G A 2: 35,180,349 (GRCm39) G130E probably damaging Het
Hecw1 A T 13: 14,490,723 (GRCm39) D756E probably benign Het
Hrc C A 7: 44,986,105 (GRCm39) R419S possibly damaging Het
Inpp4a T A 1: 37,416,777 (GRCm39) S433T probably damaging Het
Ism2 C A 12: 87,326,848 (GRCm39) V320L possibly damaging Het
Krt8 G T 15: 101,907,257 (GRCm39) D275E probably benign Het
Lgalsl2 A G 7: 5,362,401 (GRCm39) M11V probably benign Het
Lyg2 A C 1: 37,948,077 (GRCm39) N132K probably benign Het
Lyst G A 13: 13,812,243 (GRCm39) R885Q probably benign Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mcc C A 18: 44,608,203 (GRCm39) G355W probably damaging Het
Mllt6 T C 11: 97,555,802 (GRCm39) V44A probably damaging Het
Mrgpra3 A T 7: 47,239,842 (GRCm39) M28K probably benign Het
Ms4a15 A G 19: 10,962,159 (GRCm39) C47R probably benign Het
Muc5ac A G 7: 141,344,745 (GRCm39) N72S probably benign Het
Myo18b C T 5: 113,022,529 (GRCm39) probably benign Het
Nat8f4 A T 6: 85,878,207 (GRCm39) H105Q possibly damaging Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Nptx1 T G 11: 119,434,142 (GRCm39) I315L probably benign Het
Nrap T C 19: 56,310,394 (GRCm39) R1534G possibly damaging Het
Nwd2 C A 5: 63,962,499 (GRCm39) N694K probably benign Het
Oas1c G A 5: 120,941,082 (GRCm39) A35V probably null Het
Or2d3b A G 7: 106,514,113 (GRCm39) K236R probably damaging Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or5p58 C T 7: 107,694,402 (GRCm39) R125H possibly damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pate8 C A 9: 36,493,161 (GRCm39) V54L probably benign Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Plaat5 C T 19: 7,590,111 (GRCm39) R46C probably damaging Het
Polr1f A G 12: 33,483,587 (GRCm39) H113R probably damaging Het
Psmd3 T A 11: 98,581,790 (GRCm39) M305K probably benign Het
Rbm20 T C 19: 53,840,172 (GRCm39) S1054P probably benign Het
Rhox13 G C X: 37,210,221 (GRCm39) E19Q unknown Het
Ryr2 A G 13: 11,753,102 (GRCm39) F1740L possibly damaging Het
Sox1 C A 8: 12,446,927 (GRCm39) N189K possibly damaging Het
Spta1 C A 1: 174,001,907 (GRCm39) S12R possibly damaging Het
Stard13 A G 5: 150,963,196 (GRCm39) L971P probably damaging Het
Tigd4 T A 3: 84,501,600 (GRCm39) N172K probably benign Het
Tmt1a A T 15: 100,211,049 (GRCm39) I174F probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Unc45b T A 11: 82,808,625 (GRCm39) M237K probably benign Het
Vldlr A G 19: 27,215,786 (GRCm39) D220G probably damaging Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Wdr25 T A 12: 108,864,100 (GRCm39) S82T possibly damaging Het
Wnk4 C A 11: 101,165,861 (GRCm39) P796Q probably damaging Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Zc3h15 G A 2: 83,487,360 (GRCm39) V60I probably benign Het
Zfp629 G A 7: 127,210,963 (GRCm39) T282M probably damaging Het
Zscan22 T G 7: 12,637,887 (GRCm39) V93G 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
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'- GAACAGACCAGGTCAGGATC -3'
(R):5'- GTACAATGTGACTGTTGGCG -3'

Sequencing Primer
(F):5'- CAGGTCAGGATCTGGGGG -3'
(R):5'- TGACTGTTGGCGTGTCCCC -3'
Posted On 2014-10-16