Incidental Mutation 'R7085:Prex2'
ID 549796
Institutional Source Beutler Lab
Gene Symbol Prex2
Ensembl Gene ENSMUSG00000048960
Gene Name phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
Synonyms C030045D06Rik, 6230420N16Rik, Depdc2
MMRRC Submission 045179-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R7085 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 11063689-11373905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11168812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 269 (R269S)
Ref Sequence ENSEMBL: ENSMUSP00000027056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027056]
AlphaFold Q3LAC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000027056
AA Change: R269S

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: R269S

DomainStartEndE-ValueType
RhoGEF 19 205 8.61e-45 SMART
PH 238 355 2.43e-12 SMART
DEP 383 456 4.46e-26 SMART
DEP 484 557 6.57e-15 SMART
PDZ 593 666 9.62e-2 SMART
PDZ 677 744 6.37e-8 SMART
low complexity region 1112 1127 N/A INTRINSIC
low complexity region 1498 1507 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (75/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for gene trapped alleles may exhibit abnormal Purkinje cell dendrite morphology, a mild motor coordination defect that progressively worsens with age, hypoactivity, impaired glucose tolerance and/or insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T C 10: 29,100,476 (GRCm39) L283P probably damaging Het
Abhd18 T C 3: 40,871,344 (GRCm39) M132T possibly damaging Het
Afap1l1 A G 18: 61,881,885 (GRCm39) V270A possibly damaging Het
Ankrd34a A T 3: 96,505,945 (GRCm39) Q383L probably benign Het
Atp8b5 A G 4: 43,361,835 (GRCm39) D627G probably damaging Het
Atrnl1 T A 19: 57,680,289 (GRCm39) C730S probably damaging Het
Bclaf1 T C 10: 20,197,768 (GRCm39) S4P unknown Het
Blzf1 T C 1: 164,129,893 (GRCm39) D153G probably damaging Het
Btaf1 T C 19: 36,950,318 (GRCm39) V516A probably benign Het
C1qa T C 4: 136,625,091 (GRCm39) T20A probably benign Het
Cacna1e A T 1: 154,349,492 (GRCm39) probably null Het
Cfd T G 10: 79,728,326 (GRCm39) V229G probably damaging Het
Chd3 T A 11: 69,260,027 (GRCm39) H64L unknown Het
Cntn3 A G 6: 102,142,362 (GRCm39) S1002P possibly damaging Het
Cntrl T A 2: 35,055,804 (GRCm39) C1786S probably benign Het
Cpa1 A G 6: 30,643,619 (GRCm39) D355G probably benign Het
D130043K22Rik T C 13: 25,056,285 (GRCm39) V539A possibly damaging Het
Ddx1 A C 12: 13,279,356 (GRCm39) W428G probably damaging Het
Ddx49 G A 8: 70,755,133 (GRCm39) probably benign Het
Dnhd1 T A 7: 105,364,468 (GRCm39) V4207E probably benign Het
Dock3 A G 9: 106,779,086 (GRCm39) S288P probably damaging Het
Drap1 G A 19: 5,474,815 (GRCm39) probably benign Het
Ecm2 G A 13: 49,674,378 (GRCm39) R266K probably damaging Het
Emilin2 A G 17: 71,581,100 (GRCm39) L542S probably damaging Het
Evx1 T C 6: 52,293,677 (GRCm39) Y282H possibly damaging Het
Fbxo44 T A 4: 148,243,200 (GRCm39) H20L probably damaging Het
Flot2 G T 11: 77,948,900 (GRCm39) A292S possibly damaging Het
Fry A G 5: 150,362,214 (GRCm39) I2161V probably benign Het
Gli3 T C 13: 15,889,647 (GRCm39) F587S probably damaging Het
Gm49368 A G 7: 127,726,029 (GRCm39) D1147G unknown Het
Gprc5b A T 7: 118,582,855 (GRCm39) M338K probably damaging Het
H1f11-ps A G 19: 47,159,101 (GRCm39) V158A unknown Het
Hacd3 A C 9: 64,905,525 (GRCm39) N204K probably damaging Het
Hsd3b9 T C 3: 98,357,710 (GRCm39) N101D probably damaging Het
Hydin A G 8: 111,329,962 (GRCm39) T4899A probably benign Het
Ido2 T A 8: 25,048,212 (GRCm39) R49S probably benign Het
Igsf3 C A 3: 101,362,805 (GRCm39) T942K probably benign Het
Kank4 T A 4: 98,668,183 (GRCm39) Q88L probably benign Het
Krtap16-1 T A 11: 99,877,111 (GRCm39) I98F possibly damaging Het
Laptm4a T C 12: 8,972,113 (GRCm39) V52A probably benign Het
Lmbr1 A T 5: 29,566,090 (GRCm39) probably null Het
Lnx1 G A 5: 74,788,846 (GRCm39) S31F possibly damaging Het
Mafa G T 15: 75,619,536 (GRCm39) A79E unknown Het
Me2 A T 18: 73,914,129 (GRCm39) N467K probably damaging Het
Med23 T A 10: 24,746,019 (GRCm39) L8Q probably damaging Het
Muc16 T A 9: 18,556,145 (GRCm39) I3383F unknown Het
Nbas G T 12: 13,335,259 (GRCm39) S151I probably damaging Het
Or10ag60 T A 2: 87,437,750 (GRCm39) I6N probably benign Het
Or10d5j C A 9: 39,867,808 (GRCm39) C141F probably damaging Het
Or13c25 C T 4: 52,910,961 (GRCm39) A278T probably benign Het
Or6k6 T A 1: 173,945,226 (GRCm39) I119F probably damaging Het
Or7d11 G A 9: 19,966,232 (GRCm39) H58Y probably benign Het
Piezo1 A G 8: 123,217,633 (GRCm39) V1305A Het
Plcb3 T C 19: 6,937,501 (GRCm39) E639G possibly damaging Het
Polr2a A G 11: 69,634,706 (GRCm39) L658P probably damaging Het
Prag1 A T 8: 36,571,391 (GRCm39) Q658L possibly damaging Het
Reln C A 5: 22,120,085 (GRCm39) G2856* probably null Het
Rsph10b A T 5: 143,886,102 (GRCm39) T267S possibly damaging Het
Rtn4rl1 A G 11: 75,156,050 (GRCm39) I161V probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 G A 5: 124,519,783 (GRCm39) P1165L possibly damaging Het
Scn3b T C 9: 40,188,394 (GRCm39) V29A probably damaging Het
Sh3d21 T A 4: 126,056,884 (GRCm39) T13S probably benign Het
Shisal2b G T 13: 104,994,814 (GRCm39) T111K probably benign Het
Slc22a22 G A 15: 57,113,045 (GRCm39) T398I probably benign Het
Slc40a1 T A 1: 45,950,688 (GRCm39) T255S probably benign Het
Smchd1 A T 17: 71,672,214 (GRCm39) probably null Het
Soat1 A T 1: 156,259,901 (GRCm39) V480D probably damaging Het
Spata31e2 A G 1: 26,722,546 (GRCm39) L878P possibly damaging Het
Supt5 T A 7: 28,030,914 (GRCm39) E39V unknown Het
Tapbpl T C 6: 125,203,451 (GRCm39) probably null Het
Tdpoz7 T A 3: 93,979,939 (GRCm39) M5L probably benign Het
Tlr11 A T 14: 50,600,113 (GRCm39) I700F probably damaging Het
Tmc3 A T 7: 83,271,353 (GRCm39) K864M possibly damaging Het
Tns1 G A 1: 73,964,621 (GRCm39) P81S probably benign Het
Tspan2 C A 3: 102,668,270 (GRCm39) L168I probably benign Het
Unc13d C A 11: 115,955,633 (GRCm39) S885I probably benign Het
Unc45a A T 7: 79,976,082 (GRCm39) M799K possibly damaging Het
Usp34 A G 11: 23,313,097 (GRCm39) D547G Het
Vps33b A G 7: 79,925,837 (GRCm39) I95V probably benign Het
Other mutations in Prex2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Prex2 APN 1 11,256,876 (GRCm39) missense possibly damaging 0.51
IGL00948:Prex2 APN 1 11,240,838 (GRCm39) missense probably damaging 0.98
IGL01087:Prex2 APN 1 11,138,328 (GRCm39) missense probably benign 0.00
IGL01490:Prex2 APN 1 11,254,769 (GRCm39) splice site probably null
IGL01533:Prex2 APN 1 11,256,965 (GRCm39) nonsense probably null
IGL01661:Prex2 APN 1 11,278,838 (GRCm39) missense probably benign 0.01
IGL01668:Prex2 APN 1 11,223,869 (GRCm39) missense probably benign 0.00
IGL01674:Prex2 APN 1 11,240,965 (GRCm39) missense probably damaging 1.00
IGL01716:Prex2 APN 1 11,336,278 (GRCm39) missense probably benign 0.04
IGL01867:Prex2 APN 1 11,168,727 (GRCm39) missense probably benign 0.11
IGL01954:Prex2 APN 1 11,210,235 (GRCm39) missense possibly damaging 0.75
IGL01990:Prex2 APN 1 11,193,457 (GRCm39) splice site probably benign
IGL02022:Prex2 APN 1 11,367,963 (GRCm39) missense probably benign 0.04
IGL02130:Prex2 APN 1 11,230,386 (GRCm39) missense probably damaging 1.00
IGL02130:Prex2 APN 1 11,183,023 (GRCm39) missense probably damaging 1.00
IGL02221:Prex2 APN 1 11,131,569 (GRCm39) missense probably benign 0.00
IGL02369:Prex2 APN 1 11,171,393 (GRCm39) critical splice donor site probably null
IGL02440:Prex2 APN 1 11,223,881 (GRCm39) missense possibly damaging 0.94
IGL02477:Prex2 APN 1 11,274,378 (GRCm39) missense probably benign
IGL02492:Prex2 APN 1 11,194,069 (GRCm39) missense possibly damaging 0.93
IGL03051:Prex2 APN 1 11,212,889 (GRCm39) missense probably damaging 1.00
IGL03154:Prex2 APN 1 11,223,857 (GRCm39) missense possibly damaging 0.63
IGL03158:Prex2 APN 1 11,336,291 (GRCm39) missense possibly damaging 0.89
IGL03308:Prex2 APN 1 11,255,399 (GRCm39) missense possibly damaging 0.89
IGL03338:Prex2 APN 1 11,210,489 (GRCm39) missense probably benign 0.01
R0042:Prex2 UTSW 1 11,150,305 (GRCm39) missense probably damaging 1.00
R0052:Prex2 UTSW 1 11,230,380 (GRCm39) missense probably damaging 1.00
R0052:Prex2 UTSW 1 11,230,380 (GRCm39) missense probably damaging 1.00
R0138:Prex2 UTSW 1 11,355,267 (GRCm39) splice site probably benign
R0206:Prex2 UTSW 1 11,355,368 (GRCm39) missense probably damaging 1.00
R0206:Prex2 UTSW 1 11,355,368 (GRCm39) missense probably damaging 1.00
R0208:Prex2 UTSW 1 11,355,368 (GRCm39) missense probably damaging 1.00
R0325:Prex2 UTSW 1 11,270,281 (GRCm39) splice site probably null
R0326:Prex2 UTSW 1 11,355,289 (GRCm39) missense probably damaging 1.00
R0390:Prex2 UTSW 1 11,159,930 (GRCm39) splice site probably null
R0492:Prex2 UTSW 1 11,256,857 (GRCm39) splice site probably benign
R0512:Prex2 UTSW 1 11,270,157 (GRCm39) missense probably benign
R0515:Prex2 UTSW 1 11,270,098 (GRCm39) missense probably damaging 0.99
R0894:Prex2 UTSW 1 11,252,122 (GRCm39) missense probably benign
R1259:Prex2 UTSW 1 11,359,494 (GRCm39) missense probably damaging 1.00
R1332:Prex2 UTSW 1 11,274,315 (GRCm39) missense probably damaging 1.00
R1356:Prex2 UTSW 1 11,150,316 (GRCm39) nonsense probably null
R1451:Prex2 UTSW 1 11,226,483 (GRCm39) missense probably benign 0.01
R1488:Prex2 UTSW 1 11,263,752 (GRCm39) missense probably benign 0.05
R1512:Prex2 UTSW 1 11,131,554 (GRCm39) missense possibly damaging 0.64
R1641:Prex2 UTSW 1 11,301,996 (GRCm39) missense probably damaging 0.99
R1667:Prex2 UTSW 1 11,256,981 (GRCm39) missense probably benign
R1678:Prex2 UTSW 1 11,355,313 (GRCm39) missense possibly damaging 0.51
R1736:Prex2 UTSW 1 11,160,108 (GRCm39) splice site probably benign
R1781:Prex2 UTSW 1 11,270,179 (GRCm39) missense probably benign 0.17
R1804:Prex2 UTSW 1 11,202,566 (GRCm39) missense probably damaging 1.00
R1836:Prex2 UTSW 1 11,207,004 (GRCm39) missense probably damaging 1.00
R1899:Prex2 UTSW 1 11,232,590 (GRCm39) nonsense probably null
R1900:Prex2 UTSW 1 11,232,590 (GRCm39) nonsense probably null
R2020:Prex2 UTSW 1 11,232,536 (GRCm39) missense probably damaging 0.98
R2114:Prex2 UTSW 1 11,256,937 (GRCm39) missense probably damaging 1.00
R2117:Prex2 UTSW 1 11,256,937 (GRCm39) missense probably damaging 1.00
R2436:Prex2 UTSW 1 11,336,376 (GRCm39) missense possibly damaging 0.90
R2902:Prex2 UTSW 1 11,278,838 (GRCm39) missense possibly damaging 0.77
R2915:Prex2 UTSW 1 11,240,077 (GRCm39) missense probably damaging 1.00
R2924:Prex2 UTSW 1 11,168,711 (GRCm39) missense probably damaging 1.00
R2981:Prex2 UTSW 1 11,252,186 (GRCm39) missense probably damaging 1.00
R3430:Prex2 UTSW 1 11,220,078 (GRCm39) missense possibly damaging 0.88
R3832:Prex2 UTSW 1 11,226,588 (GRCm39) splice site probably benign
R3870:Prex2 UTSW 1 11,230,416 (GRCm39) missense possibly damaging 0.86
R3963:Prex2 UTSW 1 11,180,581 (GRCm39) missense possibly damaging 0.93
R4012:Prex2 UTSW 1 11,254,740 (GRCm39) missense probably benign
R4030:Prex2 UTSW 1 11,278,792 (GRCm39) missense probably benign 0.06
R4214:Prex2 UTSW 1 11,171,383 (GRCm39) missense probably damaging 1.00
R4214:Prex2 UTSW 1 11,355,285 (GRCm39) missense probably damaging 1.00
R4242:Prex2 UTSW 1 11,226,528 (GRCm39) missense probably benign 0.06
R4490:Prex2 UTSW 1 11,232,487 (GRCm39) missense probably benign 0.05
R4491:Prex2 UTSW 1 11,232,487 (GRCm39) missense probably benign 0.05
R4492:Prex2 UTSW 1 11,232,487 (GRCm39) missense probably benign 0.05
R4561:Prex2 UTSW 1 11,254,769 (GRCm39) splice site probably null
R4624:Prex2 UTSW 1 11,359,489 (GRCm39) nonsense probably null
R4647:Prex2 UTSW 1 11,232,509 (GRCm39) missense probably damaging 1.00
R4657:Prex2 UTSW 1 11,136,049 (GRCm39) missense probably benign 0.00
R4706:Prex2 UTSW 1 11,270,212 (GRCm39) missense probably damaging 1.00
R4806:Prex2 UTSW 1 11,138,244 (GRCm39) missense probably damaging 1.00
R4900:Prex2 UTSW 1 11,220,129 (GRCm39) splice site probably benign
R4922:Prex2 UTSW 1 11,240,164 (GRCm39) missense probably damaging 1.00
R4961:Prex2 UTSW 1 11,168,705 (GRCm39) missense possibly damaging 0.75
R5284:Prex2 UTSW 1 11,336,314 (GRCm39) nonsense probably null
R5305:Prex2 UTSW 1 11,177,902 (GRCm39) missense probably damaging 1.00
R5307:Prex2 UTSW 1 11,270,256 (GRCm39) missense probably damaging 0.99
R5331:Prex2 UTSW 1 11,210,235 (GRCm39) missense possibly damaging 0.75
R5385:Prex2 UTSW 1 11,210,204 (GRCm39) missense probably damaging 0.99
R5574:Prex2 UTSW 1 11,210,282 (GRCm39) missense probably damaging 1.00
R5979:Prex2 UTSW 1 11,202,596 (GRCm39) missense probably damaging 1.00
R6076:Prex2 UTSW 1 11,256,174 (GRCm39) missense probably benign 0.09
R6160:Prex2 UTSW 1 11,064,075 (GRCm39) missense probably damaging 1.00
R6177:Prex2 UTSW 1 11,207,001 (GRCm39) missense possibly damaging 0.49
R6221:Prex2 UTSW 1 11,336,236 (GRCm39) missense probably benign 0.01
R6293:Prex2 UTSW 1 11,232,522 (GRCm39) missense probably benign
R6335:Prex2 UTSW 1 11,180,544 (GRCm39) missense probably benign 0.13
R6401:Prex2 UTSW 1 11,256,951 (GRCm39) missense probably benign 0.00
R6427:Prex2 UTSW 1 11,252,255 (GRCm39) missense probably damaging 1.00
R6467:Prex2 UTSW 1 11,336,259 (GRCm39) missense probably damaging 1.00
R6564:Prex2 UTSW 1 11,171,285 (GRCm39) splice site probably null
R6734:Prex2 UTSW 1 11,150,283 (GRCm39) missense probably damaging 1.00
R6753:Prex2 UTSW 1 11,254,680 (GRCm39) missense probably damaging 0.98
R6880:Prex2 UTSW 1 11,202,608 (GRCm39) missense probably damaging 1.00
R6973:Prex2 UTSW 1 11,182,967 (GRCm39) missense probably damaging 1.00
R6980:Prex2 UTSW 1 11,232,487 (GRCm39) missense probably benign 0.05
R6987:Prex2 UTSW 1 11,240,976 (GRCm39) missense probably damaging 0.99
R7101:Prex2 UTSW 1 11,223,833 (GRCm39) missense possibly damaging 0.86
R7106:Prex2 UTSW 1 11,207,017 (GRCm39) missense probably benign 0.33
R7319:Prex2 UTSW 1 11,232,532 (GRCm39) missense probably benign 0.10
R7342:Prex2 UTSW 1 11,232,549 (GRCm39) missense probably benign 0.00
R7469:Prex2 UTSW 1 11,355,293 (GRCm39) missense probably damaging 1.00
R7528:Prex2 UTSW 1 11,274,316 (GRCm39) missense probably damaging 1.00
R7592:Prex2 UTSW 1 11,193,437 (GRCm39) missense probably damaging 1.00
R7650:Prex2 UTSW 1 11,220,078 (GRCm39) missense possibly damaging 0.67
R7695:Prex2 UTSW 1 11,232,497 (GRCm39) missense probably benign 0.00
R7720:Prex2 UTSW 1 11,252,161 (GRCm39) missense possibly damaging 0.47
R7733:Prex2 UTSW 1 11,252,183 (GRCm39) missense probably benign 0.31
R7859:Prex2 UTSW 1 11,150,274 (GRCm39) missense probably damaging 1.00
R8247:Prex2 UTSW 1 11,270,194 (GRCm39) missense probably benign
R8300:Prex2 UTSW 1 11,301,942 (GRCm39) missense possibly damaging 0.49
R8345:Prex2 UTSW 1 11,270,118 (GRCm39) missense possibly damaging 0.65
R8352:Prex2 UTSW 1 11,355,364 (GRCm39) missense probably benign
R8352:Prex2 UTSW 1 11,355,363 (GRCm39) missense probably benign
R8410:Prex2 UTSW 1 11,223,881 (GRCm39) missense possibly damaging 0.94
R8452:Prex2 UTSW 1 11,355,364 (GRCm39) missense probably benign
R8452:Prex2 UTSW 1 11,355,363 (GRCm39) missense probably benign
R8885:Prex2 UTSW 1 11,240,799 (GRCm39) splice site probably benign
R8926:Prex2 UTSW 1 11,159,930 (GRCm39) splice site probably null
R8968:Prex2 UTSW 1 11,180,562 (GRCm39) nonsense probably null
R9049:Prex2 UTSW 1 11,256,130 (GRCm39) missense probably damaging 0.98
R9398:Prex2 UTSW 1 11,207,028 (GRCm39) missense probably benign 0.00
R9452:Prex2 UTSW 1 11,256,151 (GRCm39) missense probably benign 0.01
R9549:Prex2 UTSW 1 11,256,915 (GRCm39) missense probably damaging 1.00
RF005:Prex2 UTSW 1 11,255,390 (GRCm39) missense possibly damaging 0.47
Z1177:Prex2 UTSW 1 11,359,476 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGACACCCTTCATTTGATCCCAG -3'
(R):5'- TCCCCTTGAAAGAGCTGTTG -3'

Sequencing Primer
(F):5'- CTTCATTTGATCCCAGCACTATAAAG -3'
(R):5'- GCTGTTGGGGGAAAGTCAC -3'
Posted On 2019-05-15