Incidental Mutation 'R7650:Prex2'
ID 590727
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 045727-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R7650 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 11063689-11373905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11220078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 683 (I683T)
Ref Sequence ENSEMBL: ENSMUSP00000027056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027056]
AlphaFold Q3LAC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000027056
AA Change: I683T

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: I683T

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik G A 7: 30,399,214 (GRCm39) V3I probably benign Het
Adam33 T C 2: 130,903,067 (GRCm39) E59G probably damaging Het
Akap13 T A 7: 75,293,202 (GRCm39) V45E probably benign Het
Ap1s1 A G 5: 137,074,387 (GRCm39) S28P probably benign Het
Btnl2 T C 17: 34,577,103 (GRCm39) L86P probably damaging Het
Carm1 G A 9: 21,491,668 (GRCm39) V246I probably benign Het
Cdk5rap1 C T 2: 154,196,036 (GRCm39) D283N probably benign Het
Cfap58 C A 19: 47,974,967 (GRCm39) N709K possibly damaging Het
Col24a1 A G 3: 145,020,214 (GRCm39) D195G probably benign Het
Dcaf1 A G 9: 106,715,543 (GRCm39) D220G probably benign Het
Ddias C T 7: 92,508,143 (GRCm39) G591R probably benign Het
Defb22 A T 2: 152,328,023 (GRCm39) I54K probably benign Het
Dennd4b G A 3: 90,176,056 (GRCm39) W202* probably null Het
F2 T C 2: 91,458,741 (GRCm39) N523S possibly damaging Het
Fam186a A G 15: 99,837,788 (GRCm39) Y2819H unknown Het
Fanca A T 8: 123,995,303 (GRCm39) probably null Het
Fezf2 T C 14: 12,342,653 (GRCm38) H404R probably damaging Het
Fry A G 5: 150,336,883 (GRCm39) N1418S probably damaging Het
Gak A G 5: 108,732,161 (GRCm39) S776P probably benign Het
Gbf1 A G 19: 46,260,978 (GRCm39) H1181R probably damaging Het
Gdf9 G A 11: 53,327,925 (GRCm39) E294K probably benign Het
Gje1 G A 10: 14,592,168 (GRCm39) R205* probably null Het
Gm8206 T C 14: 6,055,211 (GRCm38) probably null Het
Gpr162 T A 6: 124,838,806 (GRCm39) probably benign Het
Gxylt1 C T 15: 93,143,539 (GRCm39) R363H probably benign Het
Hnrnph1 A T 11: 50,274,726 (GRCm39) M396L probably benign Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Ice1 T A 13: 70,753,602 (GRCm39) Q828L probably damaging Het
Ift56 T A 6: 38,371,975 (GRCm39) N188K probably benign Het
Il10 A T 1: 130,949,192 (GRCm39) T118S probably benign Het
Itpr2 C T 6: 146,135,492 (GRCm39) R1813Q probably benign Het
Kbtbd12 T A 6: 88,595,530 (GRCm39) Q100L probably damaging Het
Kin A G 2: 10,096,979 (GRCm39) D276G possibly damaging Het
Klhl1 T C 14: 96,584,379 (GRCm39) T284A probably damaging Het
Kmt2d C T 15: 98,748,751 (GRCm39) A2858T unknown Het
Krt8 G A 15: 101,912,598 (GRCm39) T26M probably benign Het
Lama3 T A 18: 12,670,895 (GRCm39) M827K probably benign Het
Lingo3 T C 10: 80,671,597 (GRCm39) N111S probably damaging Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Metap1 A G 3: 138,172,128 (GRCm39) V263A probably damaging Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Muc5ac A G 7: 141,363,159 (GRCm39) T2157A unknown Het
Myo1d G T 11: 80,492,510 (GRCm39) H748Q probably benign Het
Nfkbiz A T 16: 55,638,202 (GRCm39) N419K probably benign Het
Nol10 T C 12: 17,412,683 (GRCm39) probably null Het
Nrcam T C 12: 44,594,105 (GRCm39) L284P probably damaging Het
Nrp1 T A 8: 129,224,495 (GRCm39) W753R possibly damaging Het
Obscn A G 11: 58,951,820 (GRCm39) S3978P probably benign Het
Opa3 C A 7: 18,978,896 (GRCm39) N120K probably benign Het
Or5k17 T A 16: 58,746,416 (GRCm39) R173* probably null Het
Or8g53 A T 9: 39,683,169 (GRCm39) F309Y probably benign Het
Pabpc1l T C 2: 163,891,510 (GRCm39) L576S probably benign Het
Panx3 A G 9: 37,572,701 (GRCm39) L283S probably damaging Het
Pcdhb4 T A 18: 37,442,667 (GRCm39) V659E probably damaging Het
Pde4dip A T 3: 97,606,423 (GRCm39) probably null Het
Pkd1l3 T C 8: 110,399,217 (GRCm39) V2200A probably benign Het
Pkp3 G A 7: 140,662,283 (GRCm39) M112I probably benign Het
Psg22 C A 7: 18,460,684 (GRCm39) Q438K possibly damaging Het
Ptgir T C 7: 16,640,876 (GRCm39) V56A possibly damaging Het
Pus7 G T 5: 23,965,244 (GRCm39) T304K probably damaging Het
Rab38 T C 7: 88,079,637 (GRCm39) Y10H possibly damaging Het
Ros1 C T 10: 51,922,305 (GRCm39) G2277D probably benign Het
Rpain A T 11: 70,861,271 (GRCm39) probably benign Het
Shh C A 5: 28,663,304 (GRCm39) S288I probably benign Het
Slc26a5 C T 5: 22,039,328 (GRCm39) V259M possibly damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Slit1 T A 19: 41,618,363 (GRCm39) N771I probably damaging Het
Stim1 T A 7: 102,078,034 (GRCm39) S179T Het
Syk A G 13: 52,765,131 (GRCm39) D86G probably benign Het
Tmem132b T G 5: 125,864,074 (GRCm39) S727A probably benign Het
Trim42 T A 9: 97,245,201 (GRCm39) Y533F probably benign Het
Trpm6 A T 19: 18,853,377 (GRCm39) D1799V possibly damaging Het
Ube4a A T 9: 44,844,734 (GRCm39) I839N probably damaging Het
Ugt2b36 A G 5: 87,228,831 (GRCm39) I404T probably damaging Het
Ushbp1 T A 8: 71,843,568 (GRCm39) Q290L possibly damaging Het
Vcl T A 14: 21,045,114 (GRCm39) I273K probably damaging Het
Vmn2r73 T A 7: 85,521,147 (GRCm39) I274L probably benign Het
Zc3h7b A G 15: 81,677,851 (GRCm39) D945G possibly damaging Het
Zfp454 A G 11: 50,774,580 (GRCm39) L31P probably damaging Het
Zfp536 C A 7: 37,269,117 (GRCm39) V100L probably damaging Het
Zfp942 A T 17: 22,147,818 (GRCm39) S270R 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
R7085:Prex2 UTSW 1 11,168,812 (GRCm39) missense possibly damaging 0.73
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
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'- TTTACATCCTGTTGAGGGCCC -3'
(R):5'- CCAAAGATTTTCCTGGAGTACACC -3'

Sequencing Primer
(F):5'- TTGAGGGCCCTGAGCTGTC -3'
(R):5'- AGAAAGGTCTCACTCTTGCCTGAG -3'
Posted On 2019-10-24