Incidental Mutation 'R5307:Prex2'
ID 404601
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 042890-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R5307 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 11063689-11373905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 11270256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 1314 (S1314A)
Ref Sequence ENSEMBL: ENSMUSP00000027056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027056]
AlphaFold Q3LAC4
Predicted Effect probably damaging
Transcript: ENSMUST00000027056
AA Change: S1314A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: S1314A

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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
1700006A11Rik C G 3: 124,199,999 (GRCm39) G531A probably damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ap3d1 T C 10: 80,559,383 (GRCm39) T264A probably benign Het
Arhgef17 C G 7: 100,578,635 (GRCm39) G771A probably benign Het
Atg2b T A 12: 105,624,588 (GRCm39) D637V probably benign Het
Atp10b A G 11: 43,103,302 (GRCm39) E562G probably damaging Het
Atp1a1 A G 3: 101,497,280 (GRCm39) V342A probably damaging Het
Atp2a2 A G 5: 122,599,810 (GRCm39) I527T probably benign Het
Atr T A 9: 95,760,597 (GRCm39) N1022K probably benign Het
Bach2 T A 4: 32,562,683 (GRCm39) D383E probably benign Het
Casq1 A T 1: 172,046,983 (GRCm39) L92Q probably damaging Het
Chd1 T A 17: 15,952,832 (GRCm39) Y371N probably damaging Het
Chd9 G A 8: 91,723,777 (GRCm39) A617T probably damaging Het
Cntrob T A 11: 69,205,576 (GRCm39) R419S possibly damaging Het
Corin C A 5: 72,514,321 (GRCm39) G318C probably damaging Het
Cpa3 A G 3: 20,281,327 (GRCm39) probably null Het
Cplane1 G A 15: 8,290,174 (GRCm39) probably null Het
Crybg1 T C 10: 43,879,710 (GRCm39) S493G probably benign Het
Ddc A G 11: 11,826,321 (GRCm39) F80S probably damaging Het
Dhrs2 A G 14: 55,473,601 (GRCm39) S87G possibly damaging Het
Dnah12 A G 14: 26,414,641 (GRCm39) E14G possibly damaging Het
Dtd1 A G 2: 144,588,942 (GRCm39) E200G possibly damaging Het
Dync2h1 T C 9: 7,155,099 (GRCm39) E895G probably damaging Het
Ehhadh A C 16: 21,581,442 (GRCm39) S517A probably benign Het
Ephb2 C A 4: 136,421,098 (GRCm39) Q417H possibly damaging Het
Ephb4 A G 5: 137,361,574 (GRCm39) T526A probably damaging Het
Fam222b G A 11: 78,044,594 (GRCm39) V52I probably damaging Het
Galm G A 17: 80,452,416 (GRCm39) W118* probably null Het
Galm G T 17: 80,452,417 (GRCm39) W118C probably damaging Het
Gcfc2 A G 6: 81,921,367 (GRCm39) N458D probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gykl1 A C 18: 52,827,723 (GRCm39) R310S possibly damaging Het
Gzmn A C 14: 56,405,403 (GRCm39) V27G probably damaging Het
H2-T23 T A 17: 36,343,108 (GRCm39) M90L probably benign Het
Hnrnpu T C 1: 178,164,877 (GRCm39) E87G unknown Het
Hps3 G A 3: 20,066,865 (GRCm39) S567L possibly damaging Het
Igfn1 A T 1: 135,892,676 (GRCm39) V2148E probably damaging Het
Ighv1-75 T C 12: 115,797,572 (GRCm39) R117G probably damaging Het
Itgae C T 11: 73,036,464 (GRCm39) A1134V probably benign Het
Kmt2b C T 7: 30,281,098 (GRCm39) A1294T possibly damaging Het
Leng8 C T 7: 4,148,472 (GRCm39) T748I probably damaging Het
Lrig3 G C 10: 125,842,559 (GRCm39) D495H probably damaging Het
Mctp1 G A 13: 76,860,198 (GRCm39) probably null Het
Mfsd3 T A 15: 76,586,371 (GRCm39) L168* probably null Het
Nherf1 T A 11: 115,054,587 (GRCm39) I79N probably damaging Het
Nlrp4d C A 7: 10,096,709 (GRCm39) G921* probably null Het
Nsun4 G A 4: 115,891,335 (GRCm39) T348I probably damaging Het
Nucb1 T C 7: 45,147,842 (GRCm39) T246A probably damaging Het
Nynrin A C 14: 56,101,263 (GRCm39) S311R probably damaging Het
Or4k37 T A 2: 111,158,741 (GRCm39) probably null Het
Or5ar1 T G 2: 85,671,358 (GRCm39) Y259S probably damaging Het
Ovch2 C A 7: 107,391,341 (GRCm39) R303L probably benign Het
Pcsk9 A G 4: 106,304,371 (GRCm39) S490P probably damaging Het
Pi4ka A G 16: 17,140,894 (GRCm39) F859L probably benign Het
Pkd1l3 A G 8: 110,367,424 (GRCm39) D1207G probably damaging Het
Pnpla7 G A 2: 24,911,964 (GRCm39) R710Q possibly damaging Het
Rnf216 A G 5: 143,078,757 (GRCm39) L64P probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc6a20b T G 9: 123,432,899 (GRCm39) S374R possibly damaging Het
Slc8a1 G T 17: 81,956,653 (GRCm39) N128K probably damaging Het
Slfn5 A T 11: 82,847,211 (GRCm39) D32V probably damaging Het
Snrnp35 T C 5: 124,628,553 (GRCm39) I122T possibly damaging Het
Snx24 C T 18: 53,473,283 (GRCm39) Q76* probably null Het
Sspo T A 6: 48,431,784 (GRCm39) H692Q probably damaging Het
Stxbp3 T C 3: 108,701,114 (GRCm39) D585G probably damaging Het
Svep1 T C 4: 58,072,677 (GRCm39) N2211D possibly damaging Het
Tnfrsf18 G A 4: 156,112,881 (GRCm39) probably null Het
Tnik T G 3: 28,596,121 (GRCm39) D171E probably damaging Het
Ttc23l T A 15: 10,533,745 (GRCm39) H266L probably damaging Het
Ttn G T 2: 76,725,114 (GRCm39) S2037* probably null Het
Tuba3a G A 6: 125,258,273 (GRCm39) T239I probably damaging Het
Usp25 T A 16: 76,890,594 (GRCm39) D767E probably benign Het
Whrn G T 4: 63,350,080 (GRCm39) H546N probably benign Het
Xirp2 C T 2: 67,341,506 (GRCm39) T1249I probably damaging Het
Zbtb1 T A 12: 76,433,014 (GRCm39) D333E probably damaging Het
Zfp689 T G 7: 127,047,987 (GRCm39) E15A possibly damaging Het
Zhx3 A G 2: 160,621,788 (GRCm39) M793T 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
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'- ACTCCGGAGAGACATGGTTTTC -3'
(R):5'- CTTCCCAGCTTTTATCAGTCAGAG -3'

Sequencing Primer
(F):5'- CTGTCAAAGTCTTGTGGCCACTG -3'
(R):5'- CCAGCTTTTATCAGTCAGAGACAAG -3'
Posted On 2016-07-22