Incidental Mutation 'R6401:Prex2'
ID 516146
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 044548-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R6401 (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 A at 11256951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1221 (I1221N)
Ref Sequence ENSEMBL: ENSMUSP00000027056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027056]
AlphaFold Q3LAC4
Predicted Effect probably benign
Transcript: ENSMUST00000027056
AA Change: I1221N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: I1221N

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 93% (41/44)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano3 T A 2: 110,605,459 (GRCm39) N249I probably benign Het
Ap3s1 A C 18: 46,891,074 (GRCm39) I56L probably benign Het
Ccn5 T C 2: 163,670,946 (GRCm39) I151T probably benign Het
Cngb1 A G 8: 96,030,367 (GRCm39) probably benign Het
Col2a1 T C 15: 97,883,773 (GRCm39) T570A unknown Het
Cyp3a16 T C 5: 145,377,174 (GRCm39) E471G probably damaging Het
D930020B18Rik A G 10: 121,477,762 (GRCm39) N14D possibly damaging Het
Ext1 T C 15: 52,969,493 (GRCm39) E365G possibly damaging Het
Fbn1 C A 2: 125,188,370 (GRCm39) V1490F probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Ifi209 T C 1: 173,472,269 (GRCm39) M370T probably damaging Het
Ighv2-4 G T 12: 113,617,082 (GRCm39) P60Q probably damaging Het
Kif19b A T 5: 140,442,698 (GRCm39) T80S possibly damaging Het
Ldb3 A T 14: 34,299,291 (GRCm39) L111Q probably benign Het
Mcmbp G T 7: 128,308,783 (GRCm39) L413I possibly damaging Het
Mib1 T A 18: 10,795,802 (GRCm39) M721K probably benign Het
Nos3 A G 5: 24,584,809 (GRCm39) T738A probably benign Het
Notch3 T A 17: 32,377,597 (GRCm39) I160L probably benign Het
Nrxn3 C A 12: 89,221,770 (GRCm39) N516K possibly damaging Het
Nt5c2 A G 19: 46,878,250 (GRCm39) Y496H probably benign Het
Or13f5 A C 4: 52,826,242 (GRCm39) T282P probably damaging Het
Or1n1 A T 2: 36,750,177 (GRCm39) L61* probably null Het
Or5b111 T C 19: 13,290,878 (GRCm39) Y257C probably damaging Het
Polm A T 11: 5,779,491 (GRCm39) W436R probably damaging Het
Rfpl4b T C 10: 38,696,941 (GRCm39) H220R possibly damaging Het
Rgs12 T C 5: 35,177,676 (GRCm39) F79L probably damaging Het
Rxfp2 A G 5: 149,966,595 (GRCm39) D111G probably benign Het
Smg7 A G 1: 152,715,887 (GRCm39) probably null Het
Spata22 T C 11: 73,224,180 (GRCm39) S34P probably damaging Het
St7 T A 6: 17,855,317 (GRCm39) probably null Het
Stk31 A G 6: 49,400,372 (GRCm39) E399G probably damaging Het
Tcp10b C A 17: 13,292,466 (GRCm39) N296K probably damaging Het
Tonsl T C 15: 76,517,866 (GRCm39) Y645C probably damaging Het
Ttn A T 2: 76,800,206 (GRCm39) M334K probably benign Het
Vcpkmt C A 12: 69,629,619 (GRCm39) V48F probably damaging Het
Vmn2r112 T A 17: 22,822,532 (GRCm39) Y403* probably null Het
Vwa7 G A 17: 35,236,286 (GRCm39) probably null Het
Wscd2 A T 5: 113,726,206 (GRCm39) *572C probably null Het
Xpo7 A G 14: 70,919,787 (GRCm39) L676P probably damaging Het
Zbtb32 A C 7: 30,291,244 (GRCm39) L17W probably damaging 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
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'- ACCATAGAGCTTCTGCGTGG -3'
(R):5'- CTCCACGATATAGTCTGCAGC -3'

Sequencing Primer
(F):5'- AGCTTTGGTTTTTAGAGTTAGCACAC -3'
(R):5'- GATATAGTCTGCAGCATCTTCAAGCC -3'
Posted On 2018-05-04