Incidental Mutation 'R2022:Prex1'
ID 224086
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 040031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R2022 (G1)
Quality Score 94
Status Not validated
Chromosome 2
Chromosomal Location 166408265-166555752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 166417534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1188 (W1188R)
Ref Sequence ENSEMBL: ENSMUSP00000096679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036719] [ENSMUST00000099080] [ENSMUST00000109246]
AlphaFold Q69ZK0
Predicted Effect possibly damaging
Transcript: ENSMUST00000036719
AA Change: W1358R

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: W1358R

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 possibly damaging
Transcript: ENSMUST00000099080
AA Change: W1188R

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: W1188R

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 possibly damaging
Transcript: ENSMUST00000109246
AA Change: W170R

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104869
Gene: ENSMUSG00000039621
AA Change: W170R

DomainStartEndE-ValueType
low complexity region 357 367 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136974
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,954 (GRCm39) C423* probably null Het
Akr1cl T A 1: 65,053,857 (GRCm39) Y271F probably benign Het
Asnsd1 A G 1: 53,386,386 (GRCm39) S414P possibly damaging Het
Atp12a T A 14: 56,602,739 (GRCm39) M1K probably null Het
Atp4b A C 8: 13,437,477 (GRCm39) N225K possibly damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cactin C T 10: 81,158,727 (GRCm39) T231I possibly damaging Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc180 C A 4: 45,944,418 (GRCm39) H1423N probably benign Het
Cfap251 G A 5: 123,411,853 (GRCm39) G495D probably benign Het
Chd9 T C 8: 91,761,682 (GRCm39) Y2256H probably benign Het
Chst8 A G 7: 34,374,589 (GRCm39) Y417H possibly damaging Het
Clcn6 A G 4: 148,095,109 (GRCm39) probably null Het
Clec5a A T 6: 40,562,128 (GRCm39) V12E probably damaging Het
Crebbp C T 16: 3,903,683 (GRCm39) R1852H probably damaging Het
Cyp2c40 T A 19: 39,801,224 (GRCm39) probably benign Het
Dip2c T C 13: 9,601,836 (GRCm39) L265P probably damaging Het
Dnah3 A G 7: 119,550,465 (GRCm39) Y3274H probably damaging Het
Dnah6 T A 6: 73,004,405 (GRCm39) T3853S probably benign Het
Dnttip2 T C 3: 122,069,870 (GRCm39) S362P probably damaging Het
Dst G A 1: 34,205,372 (GRCm39) V1025I possibly damaging Het
Dym T C 18: 75,213,321 (GRCm39) V181A probably benign Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Elk3 T A 10: 93,101,539 (GRCm39) I71F probably damaging Het
Epb41l4a C T 18: 34,054,893 (GRCm39) S65N probably benign Het
Erap1 T A 13: 74,814,627 (GRCm39) V451E probably benign Het
F830045P16Rik T A 2: 129,314,585 (GRCm39) I231F probably damaging Het
Fahd1 T C 17: 25,068,814 (GRCm39) I88V probably benign Het
Fam120b C T 17: 15,644,638 (GRCm39) T744I possibly damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Gdap1l1 A T 2: 163,289,517 (GRCm39) T161S probably benign Het
Gm6309 C T 5: 146,105,121 (GRCm39) G264D probably benign Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Ino80b A G 6: 83,101,353 (GRCm39) M119T probably damaging Het
Kif3a G A 11: 53,461,408 (GRCm39) V17M probably damaging Het
Krt40 T A 11: 99,430,818 (GRCm39) E285D probably damaging Het
Lair1 C G 7: 4,066,063 (GRCm39) probably null Het
Lvrn A G 18: 46,999,503 (GRCm39) T290A possibly damaging Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Matn4 A G 2: 164,242,573 (GRCm39) V175A probably damaging Het
Mok A T 12: 110,778,257 (GRCm39) D216E probably benign Het
Muc15 A T 2: 110,561,821 (GRCm39) T86S probably benign Het
Myo16 A G 8: 10,322,633 (GRCm39) K21R probably benign Het
Ncl A G 1: 86,284,677 (GRCm39) probably null Het
Nfrkb C T 9: 31,322,546 (GRCm39) T872I probably benign Het
Nhlrc2 A T 19: 56,585,710 (GRCm39) E648D probably benign Het
Nlrp9c A T 7: 26,084,221 (GRCm39) Y453N probably damaging Het
Notch4 T C 17: 34,806,502 (GRCm39) L1813P probably damaging Het
Nrg3 T A 14: 38,098,309 (GRCm39) D515V probably damaging Het
Nsd1 T C 13: 55,361,092 (GRCm39) V20A probably damaging Het
Opn4 T A 14: 34,319,028 (GRCm39) T186S probably benign Het
Or9k2 T C 10: 129,999,049 (GRCm39) M49V probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Phf11a T A 14: 59,532,363 (GRCm39) E24V possibly damaging Het
Pigg A T 5: 108,460,788 (GRCm39) probably benign Het
Plscr2 A G 9: 92,177,647 (GRCm39) D136G probably damaging Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Prdm6 A G 18: 53,598,031 (GRCm39) probably benign Het
Prmt2 T A 10: 76,061,292 (GRCm39) R65* probably null Het
Prom1 G T 5: 44,187,068 (GRCm39) D396E probably benign Het
Ptcd3 C T 6: 71,862,537 (GRCm39) C466Y probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Rab36 T C 10: 74,888,306 (GRCm39) I250T probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Serpinb3d A G 1: 107,006,182 (GRCm39) V302A probably benign Het
Slc22a16 T C 10: 40,467,873 (GRCm39) Y469H probably damaging Het
Smo A G 6: 29,754,715 (GRCm39) N262D possibly damaging Het
Spata31e5 A T 1: 28,817,234 (GRCm39) V266D probably damaging Het
Sptan1 C T 2: 29,897,573 (GRCm39) A1212V probably damaging Het
Ssr1 C T 13: 38,173,525 (GRCm39) A79T probably damaging Het
Tiam1 T A 16: 89,674,075 (GRCm39) T479S probably benign Het
Tm9sf3 A G 19: 41,227,231 (GRCm39) F280S probably damaging Het
Tmem72 T C 6: 116,673,800 (GRCm39) H106R probably damaging Het
Tnr A G 1: 159,679,592 (GRCm39) I189V probably benign Het
Tpbpa T A 13: 61,088,036 (GRCm39) N50I probably benign Het
Tshz1 T A 18: 84,031,987 (GRCm39) Y807F probably damaging Het
Tspo2 C T 17: 48,755,750 (GRCm39) A131T possibly damaging Het
Usp16 T C 16: 87,270,014 (GRCm39) L322P probably damaging Het
Vmn1r185 A G 7: 26,310,935 (GRCm39) V190A possibly damaging Het
Vmn1r34 T C 6: 66,614,385 (GRCm39) K118E possibly damaging Het
Vmn1r68 A G 7: 10,261,918 (GRCm39) L60P probably damaging Het
Vmn2r-ps158 A G 7: 42,673,454 (GRCm39) N171D probably benign Het
Vps51 T C 19: 6,121,612 (GRCm39) E162G probably benign Het
Yy1 CGGG CGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zdhhc4 C T 5: 143,307,538 (GRCm39) R161H probably damaging Het
Zfp456 A T 13: 67,514,616 (GRCm39) C363* probably null Het
Zfp541 T A 7: 15,816,110 (GRCm39) S866T 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
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
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'- TGCTCAGCAAATCACTGCC -3'
(R):5'- CCTTCAGAGTTCTCCACAGG -3'

Sequencing Primer
(F):5'- TGCCACATGAACCCCTGG -3'
(R):5'- CCTTGACTACCGCTACAA -3'
Posted On 2014-08-25