Incidental Mutation 'R8927:Prex1'
ID 690127
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 068771-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # R8927 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 166408265-166555752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 166426995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1077 (V1077M)
Ref Sequence ENSEMBL: ENSMUSP00000037180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036719] [ENSMUST00000099080] [ENSMUST00000109246]
AlphaFold Q69ZK0
Predicted Effect probably damaging
Transcript: ENSMUST00000036719
AA Change: V1077M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: V1077M

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
Predicted Effect probably damaging
Transcript: ENSMUST00000099080
AA Change: V907M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: V907M

DomainStartEndE-ValueType
Pfam:RhoGEF 5 64 3.8e-18 PFAM
PH 97 219 1.02e-10 SMART
DEP 248 321 6.86e-27 SMART
DEP 349 422 3.06e-24 SMART
PDZ 458 531 4.55e-1 SMART
PDZ 542 613 5.66e-1 SMART
low complexity region 630 641 N/A INTRINSIC
low complexity region 644 655 N/A INTRINSIC
low complexity region 939 957 N/A INTRINSIC
low complexity region 1375 1385 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109246
SMART Domains Protein: ENSMUSP00000104869
Gene: ENSMUSG00000039621

DomainStartEndE-ValueType
low complexity region 357 367 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (78/79)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik A T 16: 97,867,367 (GRCm39) H198Q probably damaging Het
Abcb9 T C 5: 124,221,706 (GRCm39) T223A probably benign Het
Actc1 T A 2: 113,880,881 (GRCm39) K115* probably null Het
Angptl2 G A 2: 33,132,316 (GRCm39) D308N probably benign Het
Arl4d A C 11: 101,557,892 (GRCm39) Q139H possibly damaging Het
Aspm T A 1: 139,418,125 (GRCm39) C2951* probably null Het
Atp23 A T 10: 126,723,362 (GRCm39) *247R probably null Het
B3gnt7 T A 1: 86,232,839 (GRCm39) S28R probably benign Het
Bmp7 C T 2: 172,721,211 (GRCm39) R288H probably damaging Het
Bsdc1 G T 4: 129,355,439 (GRCm39) probably benign Het
Capn13 T C 17: 73,631,761 (GRCm39) probably null Het
Ccdc146 T C 5: 21,538,060 (GRCm39) E88G probably damaging Het
Ccdc73 C A 2: 104,822,542 (GRCm39) D2E Het
Cdc5l C A 17: 45,721,839 (GRCm39) R477L Het
Cdh22 T A 2: 164,965,504 (GRCm39) H529L possibly damaging Het
Chchd3 T A 6: 32,780,951 (GRCm39) E178D probably benign Het
Ciz1 A T 2: 32,257,512 (GRCm39) R186* probably null Het
Col4a2 A G 8: 11,475,543 (GRCm39) probably null Het
Copa T A 1: 171,931,737 (GRCm39) H329Q probably null Het
Dcaf7 A G 11: 105,942,752 (GRCm39) D233G probably damaging Het
Dclk2 G T 3: 86,739,048 (GRCm39) P317Q probably damaging Het
Dgat2 T C 7: 98,818,710 (GRCm39) Y90C probably benign Het
Dsc3 A T 18: 20,107,234 (GRCm39) H462Q probably benign Het
Fam151a T A 4: 106,603,242 (GRCm39) probably benign Het
Fn1 T C 1: 71,638,535 (GRCm39) N1998S probably benign Het
Fpr2 T C 17: 18,113,724 (GRCm39) L240S possibly damaging Het
Fzd9 A T 5: 135,278,589 (GRCm39) M432K probably damaging Het
Gm5862 T A 5: 26,226,678 (GRCm39) I75F probably damaging Het
Gpr45 T A 1: 43,072,314 (GRCm39) V319D probably damaging Het
H4c11 T C 13: 21,919,525 (GRCm39) V87A possibly damaging Het
Igfn1 T A 1: 135,905,984 (GRCm39) R275W probably damaging Het
Inafm1 G A 7: 16,006,980 (GRCm39) A79V unknown Het
Itfg1 C T 8: 86,567,420 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,356,535 (GRCm39) probably null Het
Klhl35 T G 7: 99,120,221 (GRCm39) I366S probably damaging Het
Lysmd1 A T 3: 95,045,831 (GRCm39) I223F probably damaging Het
Mrps30 A G 13: 118,523,205 (GRCm39) L189P probably damaging Het
Ms4a4d A C 19: 11,533,574 (GRCm39) T152P probably benign Het
Mtcl1 A T 17: 66,755,628 (GRCm39) I238K probably benign Het
Musk T C 4: 58,301,638 (GRCm39) I132T probably damaging Het
Myh2 A T 11: 67,079,509 (GRCm39) M989L probably benign Het
Myh8 G A 11: 67,174,081 (GRCm39) R172H probably benign Het
Nt5c1a C T 4: 123,102,281 (GRCm39) T69M possibly damaging Het
Nuak2 T A 1: 132,255,916 (GRCm39) D196E probably damaging Het
Or52h7 A T 7: 104,214,229 (GRCm39) H267L probably damaging Het
Or5ap2 A T 2: 85,679,918 (GRCm39) I41F possibly damaging Het
Or5t7 T C 2: 86,507,630 (GRCm39) T16A probably benign Het
Or8k53 T C 2: 86,178,090 (GRCm39) T7A possibly damaging Het
Or8s10 A G 15: 98,336,519 (GRCm39) probably benign Het
Palb2 A T 7: 121,723,821 (GRCm39) C643S probably damaging Het
Pde5a T A 3: 122,633,249 (GRCm39) I706N probably damaging Het
Pdlim4 T C 11: 53,950,790 (GRCm39) R100G probably benign Het
Pip5k1c T A 10: 81,128,906 (GRCm39) V5E possibly damaging Het
Pira1 A C 7: 3,742,358 (GRCm39) N56K probably benign Het
Plekhm1 A G 11: 103,268,039 (GRCm39) V644A probably benign Het
Plk2 T G 13: 110,535,750 (GRCm39) V524G probably damaging Het
Ppl T A 16: 4,905,474 (GRCm39) N1607I probably benign Het
Prag1 T G 8: 36,614,360 (GRCm39) V1304G probably damaging Het
Prmt6 T C 3: 110,158,248 (GRCm39) S14G probably benign Het
Psrc1 T G 3: 108,293,973 (GRCm39) S263R probably damaging Het
Qrfprl C A 6: 65,358,597 (GRCm39) S107* probably null Het
Rbp7 A T 4: 149,537,958 (GRCm39) L36* probably null Het
Rgs12 G T 5: 35,123,633 (GRCm39) W472L possibly damaging Het
Rrp8 C A 7: 105,384,073 (GRCm39) C143F possibly damaging Het
Sart1 T C 19: 5,438,529 (GRCm39) S43G probably benign Het
Setx A G 2: 29,016,971 (GRCm39) T25A possibly damaging Het
Skint5 G A 4: 113,341,099 (GRCm39) T1414I probably benign Het
Sorbs2 T A 8: 46,248,952 (GRCm39) S734R probably damaging Het
Spata31g1 A T 4: 42,972,251 (GRCm39) Y528F probably benign Het
Spon1 T C 7: 113,629,592 (GRCm39) probably null Het
Sptbn1 C T 11: 30,088,962 (GRCm39) V767I probably damaging Het
Srf T C 17: 46,860,095 (GRCm39) I477V probably damaging Het
Tanc2 A G 11: 105,701,331 (GRCm39) Y282C probably damaging Het
Tbc1d23 A G 16: 56,992,152 (GRCm39) Y603H probably damaging Het
Tdpoz6 T A 3: 93,599,950 (GRCm39) T140S probably benign Het
Tfap4 T C 16: 4,369,218 (GRCm39) D134G probably damaging Het
Tmem200c A G 17: 69,148,733 (GRCm39) T439A probably benign Het
Tmem63b A T 17: 45,975,908 (GRCm39) M515K probably damaging Het
Tnc A T 4: 63,925,595 (GRCm39) N980K probably damaging Het
Ttc23l T A 15: 10,530,720 (GRCm39) L297F probably damaging Het
Vinac1 A G 2: 128,882,789 (GRCm39) S76P Het
Vmn1r170 A G 7: 23,305,814 (GRCm39) N72S possibly damaging Het
Vmn2r8 T C 5: 108,950,131 (GRCm39) M239V Het
Vopp1 A G 6: 57,731,578 (GRCm39) F138L probably damaging Het
Vps41 T A 13: 18,929,501 (GRCm39) F79I probably benign Het
Zfp317 T C 9: 19,552,521 (GRCm39) M1T probably null 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
R7361:Prex1 UTSW 2 166,555,490 (GRCm39) missense probably benign 0.04
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
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'- TTGTCTGTCGAAGATGCTCC -3'
(R):5'- TGAACCCCATGGCCTATACC -3'

Sequencing Primer
(F):5'- TCCGGGCAGCTGGTAGG -3'
(R):5'- ACTGTATCACCACCATGGCTG -3'
Posted On 2021-11-19