Incidental Mutation 'R4706:Prex2'
ID 355180
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 041954-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R4706 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 11063689-11373905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 11270212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 1299 (W1299L)
Ref Sequence ENSEMBL: ENSMUSP00000027056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027056]
AlphaFold Q3LAC4
Predicted Effect probably damaging
Transcript: ENSMUST00000027056
AA Change: W1299L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: W1299L

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
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 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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,064,988 (GRCm39) N548K probably damaging Het
Abcd2 T C 15: 91,043,385 (GRCm39) D601G probably benign Het
Afap1l2 A T 19: 56,925,672 (GRCm39) I152N possibly damaging Het
Ankrd52 T G 10: 128,214,030 (GRCm39) M62R probably benign Het
Aox4 A T 1: 58,305,946 (GRCm39) T1317S probably damaging Het
Apol7c T A 15: 77,409,923 (GRCm39) Q341L probably benign Het
Arhgef4 C T 1: 34,771,298 (GRCm39) R1202W probably benign Het
B4galnt2 C T 11: 95,766,923 (GRCm39) probably null Het
Cecr2 A T 6: 120,732,539 (GRCm39) E477V possibly damaging Het
Chmp7 A T 14: 69,956,010 (GRCm39) D419E probably benign Het
Cmip A C 8: 118,103,893 (GRCm39) K127T probably damaging Het
Csmd2 T C 4: 128,438,544 (GRCm39) V3041A probably benign Het
Cyp1b1 T A 17: 80,020,771 (GRCm39) I324F possibly damaging Het
Dapp1 T C 3: 137,638,928 (GRCm39) D225G probably benign Het
Ddx10 T C 9: 53,145,231 (GRCm39) T249A probably damaging Het
Dscaml1 T C 9: 45,361,878 (GRCm39) Y213H probably damaging Het
Eef1a2 T C 2: 180,797,150 (GRCm39) D17G probably damaging Het
Fbn1 T C 2: 125,212,069 (GRCm39) I848V probably benign Het
Fbxw18 A G 9: 109,519,585 (GRCm39) I307T probably benign Het
Fxr1 T A 3: 34,118,278 (GRCm39) D500E probably damaging Het
Gars1 G A 6: 55,046,363 (GRCm39) G492D probably damaging Het
Gria2 A T 3: 80,648,297 (GRCm39) D146E probably benign Het
Gstz1 A G 12: 87,205,894 (GRCm39) N37S probably benign Het
Hnrnph3 C A 10: 62,853,059 (GRCm39) G194V probably damaging Het
Il2rb T C 15: 78,370,600 (GRCm39) R172G possibly damaging Het
Itga11 T A 9: 62,662,578 (GRCm39) V517D possibly damaging Het
Kcnq4 A G 4: 120,561,683 (GRCm39) I462T probably benign Het
Klf6 T A 13: 5,911,639 (GRCm39) M1K probably null Het
Lrp8 G A 4: 107,718,470 (GRCm39) A817T probably benign Het
Map3k5 T A 10: 19,934,684 (GRCm39) Y509N probably damaging Het
Mdc1 C T 17: 36,163,671 (GRCm39) S1073F probably damaging Het
Mme A G 3: 63,256,133 (GRCm39) D531G possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh7 A T 4: 106,548,821 (GRCm39) V1014E possibly damaging Het
Msantd5l A T 11: 51,144,668 (GRCm39) F204L possibly damaging Het
Myo1d C T 11: 80,557,467 (GRCm39) C491Y probably damaging Het
Ncoa3 C A 2: 165,889,799 (GRCm39) D61E probably damaging Het
Nmrk1 A G 19: 18,622,491 (GRCm39) E190G probably benign Het
Nr4a2 G T 2: 57,002,225 (GRCm39) P13H probably damaging Het
Nup205 T C 6: 35,178,943 (GRCm39) L671P probably damaging Het
Omt2a T C 9: 78,220,352 (GRCm39) I16V probably benign Het
Or4c116 A T 2: 88,942,576 (GRCm39) F93L probably damaging Het
Or51f2 T A 7: 102,526,640 (GRCm39) H104Q probably damaging Het
Or6n1 A G 1: 173,917,268 (GRCm39) I221V probably damaging Het
Or8k24 G A 2: 86,216,732 (GRCm39) T10I probably benign Het
Or8s5 G T 15: 98,238,659 (GRCm39) H70Q possibly damaging Het
Osbpl9 A T 4: 109,013,884 (GRCm39) I70N probably damaging Het
Pclo A T 5: 14,764,221 (GRCm39) L4231F unknown Het
Per1 C T 11: 68,991,444 (GRCm39) probably benign Het
Perm1 G T 4: 156,301,531 (GRCm39) C25F probably damaging Het
Phf3 A G 1: 30,844,687 (GRCm39) V1424A probably damaging Het
Plxnb1 T G 9: 108,941,096 (GRCm39) L1625R probably damaging Het
Ppid G A 3: 79,506,359 (GRCm39) V216I probably benign Het
Ppp4r3a C T 12: 101,008,175 (GRCm39) G754D probably damaging Het
Ptprn2 C A 12: 116,835,714 (GRCm39) Q350K probably benign Het
Ralyl G A 3: 14,104,850 (GRCm39) probably null Het
Rbm8a G A 3: 96,537,368 (GRCm39) probably benign Het
Relch T A 1: 105,620,004 (GRCm39) M353K probably benign Het
Ros1 A G 10: 51,977,990 (GRCm39) S1419P possibly damaging Het
Rps6ka5 C T 12: 100,564,144 (GRCm39) probably null Het
Rps6ka5 T A 12: 100,547,578 (GRCm39) I311F probably damaging Het
Rtel1 T C 2: 180,965,539 (GRCm39) probably null Het
Sacs A G 14: 61,441,722 (GRCm39) E1256G probably damaging Het
Sec23a A G 12: 59,029,372 (GRCm39) V467A probably damaging Het
Sec24d T A 3: 123,149,427 (GRCm39) N811K possibly damaging Het
Sf3b1 G A 1: 55,029,666 (GRCm39) T1112M probably damaging Het
Shisa5 T A 9: 108,885,128 (GRCm39) C133S probably null Het
Slc16a6 A G 11: 109,354,193 (GRCm39) S59P probably benign Het
Slc25a31 G A 3: 40,670,975 (GRCm39) A89T probably damaging Het
Slc6a1 G T 6: 114,284,713 (GRCm39) R257L possibly damaging Het
Sntb1 C T 15: 55,612,670 (GRCm39) V303M probably benign Het
Snx20 A G 8: 89,354,439 (GRCm39) V97A probably damaging Het
Vmn1r29 T A 6: 58,285,136 (GRCm39) N285K probably benign Het
Vmn2r98 T G 17: 19,290,007 (GRCm39) S514R probably damaging Het
Zfp28 A T 7: 6,392,793 (GRCm39) E156D probably damaging Het
Zfp39 A G 11: 58,793,633 (GRCm39) V35A probably benign Het
Zfp536 A C 7: 37,268,891 (GRCm39) I175S probably damaging Het
Zic5 A T 14: 122,696,969 (GRCm39) S549T unknown 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
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
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'- TTGTGTTCTTTTCCATCACAGACAG -3'
(R):5'- GCTTTTATCAGTCAGAGACAAGAG -3'

Sequencing Primer
(F):5'- GTGAAACCCAACTCCGGAGAG -3'
(R):5'- CTTATTAAAGCCTAAATGGTGACGG -3'
Posted On 2015-10-21