Incidental Mutation 'R7361:Prex1'
ID 571310
Institutional Source Beutler Lab
Gene Symbol Prex1
Ensembl Gene ENSMUSG00000039621
Gene Name phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
Synonyms P-REX1
MMRRC Submission 045447-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R7361 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 166408265-166555752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166555490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 50 (N50S)
Ref Sequence ENSEMBL: ENSMUSP00000037180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036719]
AlphaFold Q69ZK0
Predicted Effect probably benign
Transcript: ENSMUST00000036719
AA Change: N50S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: N50S

DomainStartEndE-ValueType
low complexity region 3 27 N/A INTRINSIC
RhoGEF 48 234 3.16e-52 SMART
PH 267 389 1.02e-10 SMART
DEP 418 491 6.86e-27 SMART
DEP 519 592 3.06e-24 SMART
PDZ 628 701 4.55e-1 SMART
PDZ 712 783 5.66e-1 SMART
low complexity region 800 811 N/A INTRINSIC
low complexity region 814 825 N/A INTRINSIC
low complexity region 1109 1127 N/A INTRINSIC
low complexity region 1545 1555 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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 acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have impaired neutrophil migration and autism-like social behavior with defective AMPA-mediated LTD. Mice with other alleles exhibit reduced weight, smaller livers and increased peripheral neutrophil numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik C T 6: 132,604,434 (GRCm39) V4I unknown Het
Actn1 A T 12: 80,240,489 (GRCm39) D199E probably benign Het
Adam17 T C 12: 21,375,602 (GRCm39) D739G probably damaging Het
Agmat T C 4: 141,474,163 (GRCm39) S15P probably benign Het
Ahsa2 A G 11: 23,441,099 (GRCm39) S229P probably damaging Het
Arhgef3 A G 14: 26,987,535 (GRCm39) D36G possibly damaging Het
C6 C A 15: 4,826,404 (GRCm39) Y662* probably null Het
Ccs T C 19: 4,883,378 (GRCm39) D140G probably benign Het
Cdc42bpb A G 12: 111,312,039 (GRCm39) L65P probably damaging Het
Cdh24 A T 14: 54,876,378 (GRCm39) V149E possibly damaging Het
Cdk12 C A 11: 98,101,294 (GRCm39) S384* probably null Het
Cep350 G A 1: 155,777,237 (GRCm39) A1701V probably damaging Het
Ces1g T C 8: 94,060,307 (GRCm39) Q104R not run Het
Chd5 A G 4: 152,447,745 (GRCm39) H537R probably damaging Het
Cln5 T A 14: 103,313,339 (GRCm39) V197D probably damaging Het
Coq7 A G 7: 118,128,798 (GRCm39) V79A probably benign Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Cplx2 A T 13: 54,526,639 (GRCm39) M16L probably benign Het
Crot A G 5: 9,027,534 (GRCm39) L266S probably damaging Het
Ctbs T A 3: 146,164,509 (GRCm39) Y221N probably damaging Het
Cul7 T A 17: 46,967,933 (GRCm39) L707Q probably damaging Het
D430041D05Rik G A 2: 104,085,363 (GRCm39) T378I possibly damaging Het
Dixdc1 T C 9: 50,599,953 (GRCm39) I364V probably damaging Het
Dnah11 T A 12: 117,982,477 (GRCm39) H2564L probably damaging Het
Dnajc3 T C 14: 119,175,576 (GRCm39) Y26H probably benign Het
Dpysl2 G A 14: 67,071,664 (GRCm39) H159Y possibly damaging Het
Ehmt1 T A 2: 24,746,713 (GRCm39) K423I possibly damaging Het
Eif1ad4 A G 12: 87,862,170 (GRCm39) N11D unknown Het
Enpp7 A G 11: 118,882,985 (GRCm39) N353S probably benign Het
Ext1 G A 15: 53,208,119 (GRCm39) A214V probably damaging Het
Fbh1 A T 2: 11,751,887 (GRCm39) I937N probably damaging Het
Fbxo39 T C 11: 72,207,800 (GRCm39) Y51H possibly damaging Het
Firrm A T 1: 163,813,602 (GRCm39) D207E possibly damaging Het
Fry A G 5: 150,360,312 (GRCm39) H1986R possibly damaging Het
Grem2 T C 1: 174,664,514 (GRCm39) K112E probably benign Het
Gucy1a1 A G 3: 82,005,027 (GRCm39) V586A probably damaging Het
Il12rb2 G T 6: 67,280,450 (GRCm39) L586I possibly damaging Het
Il18 T C 9: 50,490,614 (GRCm39) I83T probably damaging Het
Irs1 A T 1: 82,266,835 (GRCm39) Y460* probably null Het
Jak1 G T 4: 101,041,536 (GRCm39) Q161K possibly damaging Het
Jakmip1 T A 5: 37,276,148 (GRCm39) L486Q probably damaging Het
Jmjd1c C A 10: 67,054,143 (GRCm39) Q16K probably benign Het
Kidins220 T C 12: 25,106,999 (GRCm39) L1393P probably benign Het
Klhl24 A C 16: 19,936,750 (GRCm39) I453L probably benign Het
Krtap2-4 C T 11: 99,505,420 (GRCm39) D64N probably damaging Het
Man1a T A 10: 53,784,105 (GRCm39) D592V probably damaging Het
Mepe T A 5: 104,485,009 (GRCm39) Y50N probably benign Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Muc4 T A 16: 32,754,670 (GRCm38) S1515T probably benign Het
Nalcn T C 14: 123,529,251 (GRCm39) D1408G probably benign Het
Nav1 T C 1: 135,380,591 (GRCm39) M1443V unknown Het
Nckap1l A C 15: 103,379,709 (GRCm39) N332T possibly damaging Het
Neurl4 T A 11: 69,802,905 (GRCm39) L1467Q probably benign Het
Notch2 A G 3: 98,038,718 (GRCm39) N1287S probably benign Het
Nr4a3 C T 4: 48,083,203 (GRCm39) P579S probably benign Het
Nrxn2 A T 19: 6,567,112 (GRCm39) H1329L probably benign Het
Nynrin A T 14: 56,107,857 (GRCm39) H988L possibly damaging Het
Or1e34 T A 11: 73,778,827 (GRCm39) I124F probably damaging Het
Or4c31 A G 2: 88,291,836 (GRCm39) T70A probably benign Het
Or4c3d A G 2: 89,882,089 (GRCm39) I193T probably benign Het
Or52e3 G T 7: 102,869,830 (GRCm39) D302Y possibly damaging Het
Or7g35 T A 9: 19,495,856 (GRCm39) F8I probably benign Het
Pclo G A 5: 14,843,882 (GRCm39) S1534N probably damaging Het
Pign A G 1: 105,512,778 (GRCm39) V635A probably benign Het
Pkhd1 T C 1: 20,664,177 (GRCm39) T134A probably damaging Het
Plcb4 A T 2: 135,818,068 (GRCm39) N790I possibly damaging Het
Plxna2 G T 1: 194,482,087 (GRCm39) C1453F probably damaging Het
Plxna4 A G 6: 32,173,057 (GRCm39) probably null Het
Pnpla2 A G 7: 141,037,344 (GRCm39) I116V possibly damaging Het
Polq A G 16: 36,880,790 (GRCm39) T985A probably benign Het
Pramel11 T C 4: 143,622,456 (GRCm39) T300A possibly damaging Het
Ptgfrn G A 3: 100,984,760 (GRCm39) A144V probably benign Het
Rad54b G A 4: 11,599,782 (GRCm39) G329S probably damaging Het
Rrbp1 A G 2: 143,809,364 (GRCm39) L931S probably benign Het
Saxo4 T G 19: 10,456,943 (GRCm39) D134A probably damaging Het
Sipa1l2 A G 8: 126,180,071 (GRCm39) S1109P probably damaging Het
Slc26a7 G T 4: 14,546,305 (GRCm39) N341K probably damaging Het
Smg1 A C 7: 117,784,200 (GRCm39) D958E unknown Het
Smg6 T A 11: 74,820,979 (GRCm39) S417T probably benign Het
Srgap3 A G 6: 112,723,882 (GRCm39) V550A probably damaging Het
Terb1 T A 8: 105,195,431 (GRCm39) D570V probably damaging Het
Tet3 A G 6: 83,345,076 (GRCm39) V1787A probably benign Het
Tor1a A T 2: 30,853,753 (GRCm39) D192E probably benign Het
Tpr T C 1: 150,323,372 (GRCm39) S2379P possibly damaging Het
Trip12 A T 1: 84,728,163 (GRCm39) F1138L probably damaging Het
Trpv1 T C 11: 73,151,203 (GRCm39) L797P probably damaging Het
Tut1 T C 19: 8,942,698 (GRCm39) L595P probably damaging Het
Ubl7 T C 9: 57,821,905 (GRCm39) S85P probably damaging Het
Urb1 C A 16: 90,571,656 (GRCm39) S1051I probably damaging Het
Usp17le A G 7: 104,418,084 (GRCm39) W353R probably damaging Het
Usp44 T C 10: 93,682,330 (GRCm39) L260S probably benign Het
Wsb1 T A 11: 79,131,623 (GRCm39) probably null Het
Xrcc2 A T 5: 25,897,755 (GRCm39) C65S probably damaging Het
Zfp316 T A 5: 143,240,430 (GRCm39) M530L probably benign Het
Zfp473 T C 7: 44,382,563 (GRCm39) H590R probably damaging Het
Zfp983 T A 17: 21,880,850 (GRCm39) H259Q probably damaging Het
Other mutations in Prex1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Prex1 APN 2 166,480,321 (GRCm39) missense probably damaging 1.00
IGL00309:Prex1 APN 2 166,451,743 (GRCm39) missense probably damaging 0.99
IGL00953:Prex1 APN 2 166,480,329 (GRCm39) missense probably damaging 1.00
IGL00961:Prex1 APN 2 166,427,656 (GRCm39) missense probably damaging 0.98
IGL01300:Prex1 APN 2 166,480,327 (GRCm39) missense possibly damaging 0.46
IGL01318:Prex1 APN 2 166,411,260 (GRCm39) splice site probably benign
IGL01753:Prex1 APN 2 166,444,802 (GRCm39) missense probably benign 0.11
IGL01819:Prex1 APN 2 166,463,165 (GRCm39) missense probably damaging 1.00
IGL02058:Prex1 APN 2 166,427,103 (GRCm39) missense probably benign 0.00
IGL02251:Prex1 APN 2 166,419,806 (GRCm39) missense probably damaging 0.99
IGL02326:Prex1 APN 2 166,463,105 (GRCm39) missense probably benign 0.35
IGL02366:Prex1 APN 2 166,422,347 (GRCm39) missense probably damaging 1.00
IGL02414:Prex1 APN 2 166,451,748 (GRCm39) missense probably damaging 1.00
IGL02660:Prex1 APN 2 166,435,787 (GRCm39) missense probably damaging 0.97
IGL02666:Prex1 APN 2 166,414,909 (GRCm39) missense probably benign 0.00
IGL02874:Prex1 APN 2 166,426,967 (GRCm39) missense probably damaging 1.00
IGL02935:Prex1 APN 2 166,412,265 (GRCm39) missense probably damaging 1.00
IGL03179:Prex1 APN 2 166,427,114 (GRCm39) missense probably benign 0.31
R0207:Prex1 UTSW 2 166,427,818 (GRCm39) missense possibly damaging 0.92
R0415:Prex1 UTSW 2 166,428,619 (GRCm39) unclassified probably benign
R0420:Prex1 UTSW 2 166,431,491 (GRCm39) missense probably benign 0.13
R0449:Prex1 UTSW 2 166,411,297 (GRCm39) missense probably benign 0.16
R0458:Prex1 UTSW 2 166,427,743 (GRCm39) missense probably damaging 0.99
R0927:Prex1 UTSW 2 166,428,457 (GRCm39) missense probably benign 0.01
R1299:Prex1 UTSW 2 166,427,827 (GRCm39) missense possibly damaging 0.62
R1414:Prex1 UTSW 2 166,435,781 (GRCm39) missense probably damaging 1.00
R1440:Prex1 UTSW 2 166,422,383 (GRCm39) missense probably damaging 0.98
R1506:Prex1 UTSW 2 166,429,001 (GRCm39) missense probably damaging 1.00
R1725:Prex1 UTSW 2 166,443,656 (GRCm39) missense probably damaging 1.00
R1831:Prex1 UTSW 2 166,427,021 (GRCm39) missense probably damaging 1.00
R1883:Prex1 UTSW 2 166,425,192 (GRCm39) missense probably benign 0.20
R1896:Prex1 UTSW 2 166,428,574 (GRCm39) missense probably benign 0.01
R2022:Prex1 UTSW 2 166,417,534 (GRCm39) missense possibly damaging 0.80
R2091:Prex1 UTSW 2 166,411,285 (GRCm39) missense possibly damaging 0.95
R2258:Prex1 UTSW 2 166,429,077 (GRCm39) missense probably benign 0.00
R2263:Prex1 UTSW 2 166,430,988 (GRCm39) splice site probably benign
R2276:Prex1 UTSW 2 166,419,875 (GRCm39) missense probably benign 0.34
R2279:Prex1 UTSW 2 166,419,875 (GRCm39) missense probably benign 0.34
R2680:Prex1 UTSW 2 166,443,692 (GRCm39) missense possibly damaging 0.92
R3024:Prex1 UTSW 2 166,430,956 (GRCm39) missense probably benign 0.04
R3421:Prex1 UTSW 2 166,459,774 (GRCm39) missense probably damaging 1.00
R3614:Prex1 UTSW 2 166,451,701 (GRCm39) missense probably damaging 1.00
R4244:Prex1 UTSW 2 166,412,256 (GRCm39) missense probably damaging 1.00
R4605:Prex1 UTSW 2 166,555,464 (GRCm39) missense probably benign 0.45
R4685:Prex1 UTSW 2 166,480,252 (GRCm39) missense probably damaging 0.97
R4787:Prex1 UTSW 2 166,480,260 (GRCm39) missense probably benign 0.01
R4796:Prex1 UTSW 2 166,434,211 (GRCm39) missense probably damaging 1.00
R4825:Prex1 UTSW 2 166,427,777 (GRCm39) nonsense probably null
R4955:Prex1 UTSW 2 166,415,143 (GRCm39) missense probably damaging 0.99
R5046:Prex1 UTSW 2 166,414,883 (GRCm39) missense probably benign 0.00
R5095:Prex1 UTSW 2 166,423,841 (GRCm39) missense probably damaging 1.00
R5408:Prex1 UTSW 2 166,417,573 (GRCm39) small insertion probably benign
R5462:Prex1 UTSW 2 166,486,728 (GRCm39) missense probably benign 0.02
R5535:Prex1 UTSW 2 166,422,193 (GRCm39) missense possibly damaging 0.80
R5777:Prex1 UTSW 2 166,428,579 (GRCm39) missense probably damaging 1.00
R5813:Prex1 UTSW 2 166,425,127 (GRCm39) missense probably benign
R5860:Prex1 UTSW 2 166,486,604 (GRCm39) intron probably benign
R5984:Prex1 UTSW 2 166,427,664 (GRCm39) missense probably damaging 1.00
R6009:Prex1 UTSW 2 166,423,904 (GRCm39) missense probably damaging 1.00
R6174:Prex1 UTSW 2 166,414,883 (GRCm39) missense probably benign 0.00
R6345:Prex1 UTSW 2 166,414,880 (GRCm39) missense probably null 0.81
R6897:Prex1 UTSW 2 166,423,913 (GRCm39) missense probably damaging 0.99
R6935:Prex1 UTSW 2 166,441,575 (GRCm39) missense probably damaging 1.00
R7025:Prex1 UTSW 2 166,455,107 (GRCm39) small insertion probably benign
R7037:Prex1 UTSW 2 166,429,100 (GRCm39) missense probably benign 0.05
R7076:Prex1 UTSW 2 166,475,302 (GRCm39) missense probably damaging 0.99
R7181:Prex1 UTSW 2 166,412,291 (GRCm39) missense probably damaging 1.00
R7381:Prex1 UTSW 2 166,429,047 (GRCm39) missense probably damaging 1.00
R7721:Prex1 UTSW 2 166,419,810 (GRCm39) nonsense probably null
R7763:Prex1 UTSW 2 166,555,629 (GRCm39) missense unknown
R7809:Prex1 UTSW 2 166,415,164 (GRCm39) missense possibly damaging 0.91
R7915:Prex1 UTSW 2 166,463,112 (GRCm39) missense probably damaging 1.00
R7971:Prex1 UTSW 2 166,423,859 (GRCm39) missense probably damaging 1.00
R7998:Prex1 UTSW 2 166,428,965 (GRCm39) critical splice donor site probably null
R8029:Prex1 UTSW 2 166,417,523 (GRCm39) missense probably benign 0.01
R8193:Prex1 UTSW 2 166,435,780 (GRCm39) missense possibly damaging 0.60
R8352:Prex1 UTSW 2 166,431,493 (GRCm39) missense probably benign 0.05
R8452:Prex1 UTSW 2 166,431,493 (GRCm39) missense probably benign 0.05
R8927:Prex1 UTSW 2 166,426,995 (GRCm39) missense probably damaging 0.97
R8928:Prex1 UTSW 2 166,426,995 (GRCm39) missense probably damaging 0.97
R9021:Prex1 UTSW 2 166,432,429 (GRCm39) missense possibly damaging 0.47
R9070:Prex1 UTSW 2 166,427,707 (GRCm39) missense probably damaging 1.00
R9213:Prex1 UTSW 2 166,417,669 (GRCm39) missense probably damaging 0.99
R9511:Prex1 UTSW 2 166,413,481 (GRCm39) missense probably damaging 1.00
R9514:Prex1 UTSW 2 166,419,896 (GRCm39) missense possibly damaging 0.53
R9529:Prex1 UTSW 2 166,431,518 (GRCm39) missense probably damaging 1.00
X0065:Prex1 UTSW 2 166,428,545 (GRCm39) missense probably benign
Z1176:Prex1 UTSW 2 166,414,890 (GRCm39) nonsense probably null
Z1177:Prex1 UTSW 2 166,434,148 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTGACTGTGCAATTCGAGCTG -3'
(R):5'- ATTTTCTACAAAGATCCCCGCC -3'

Sequencing Primer
(F):5'- CAATTCGAGCTGGGGCAAG -3'
(R):5'- TAGCAGATTGACCCCGCCTC -3'
Posted On 2019-09-13