Incidental Mutation 'IGL01743:Pak5'
ID 152931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pak5
Ensembl Gene ENSMUSG00000039913
Gene Name p21 (RAC1) activated kinase 5
Synonyms Pak5, Pak7, 2900083L08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01743
Quality Score
Status
Chromosome 2
Chromosomal Location 135923024-136229887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135929333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 617 (R617W)
Ref Sequence ENSEMBL: ENSMUSP00000076440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035264] [ENSMUST00000077200]
AlphaFold Q8C015
Predicted Effect probably damaging
Transcript: ENSMUST00000035264
AA Change: R617W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: R617W

DomainStartEndE-ValueType
PBD 11 46 5.3e-13 SMART
low complexity region 394 415 N/A INTRINSIC
S_TKc 449 700 1.39e-90 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077200
AA Change: R617W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: R617W

DomainStartEndE-ValueType
PBD 11 46 5.3e-13 SMART
low complexity region 394 415 N/A INTRINSIC
S_TKc 449 700 1.39e-90 SMART
Coding Region Coverage
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 is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired active avoidance learning but are otherwise normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,646,238 (GRCm39) N750K probably benign Het
Ackr2 T C 9: 121,738,566 (GRCm39) C314R probably benign Het
Adar C T 3: 89,652,747 (GRCm39) Q210* probably null Het
Aifm1 A G X: 47,569,153 (GRCm39) probably benign Het
Aldoa G T 7: 126,395,875 (GRCm39) D198E probably damaging Het
Ampd1 T A 3: 103,002,201 (GRCm39) probably benign Het
Arhgef18 G T 8: 3,414,697 (GRCm39) C25F probably benign Het
Btnl1 T C 17: 34,604,659 (GRCm39) I480T probably damaging Het
Capn9 T C 8: 125,318,508 (GRCm39) S125P probably benign Het
Cd40lg T A X: 56,257,592 (GRCm39) Y26* probably null Het
Cdc42bpg G T 19: 6,359,853 (GRCm39) probably null Het
Cdh10 T C 15: 18,986,855 (GRCm39) L362P probably benign Het
Dhx16 A G 17: 36,199,000 (GRCm39) D782G probably damaging Het
Dnajb14 G T 3: 137,611,761 (GRCm39) V320L possibly damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Ercc6 T C 14: 32,274,561 (GRCm39) V568A probably damaging Het
Faf2 T C 13: 54,789,311 (GRCm39) probably null Het
Fbrsl1 C T 5: 110,529,506 (GRCm39) V223M probably damaging Het
Fcrl5 T C 3: 87,351,598 (GRCm39) V282A probably damaging Het
Fxr2 C T 11: 69,543,448 (GRCm39) L650F possibly damaging Het
Gabrq A G X: 71,880,448 (GRCm39) M314V probably benign Het
Gnas T A 2: 174,140,125 (GRCm39) Y157* probably null Het
Gtf2i T C 5: 134,315,747 (GRCm39) E175G probably damaging Het
Gtf3c1 A C 7: 125,262,587 (GRCm39) Y1091D probably damaging Het
Heatr5b G A 17: 79,132,069 (GRCm39) Q345* probably null Het
Hydin T C 8: 111,319,408 (GRCm39) V4437A possibly damaging Het
Idi2 T A 13: 9,008,578 (GRCm39) L112Q probably damaging Het
Ift80 C T 3: 68,869,629 (GRCm39) V221M probably benign Het
Il16 A G 7: 83,301,507 (GRCm39) F205S probably benign Het
Irf1 T A 11: 53,665,277 (GRCm39) M218K probably benign Het
Itga8 T C 2: 12,270,144 (GRCm39) N114S probably benign Het
Itgae T C 11: 73,002,585 (GRCm39) V114A probably benign Het
Klhdc10 A G 6: 30,441,933 (GRCm39) probably null Het
Krt78 C A 15: 101,859,333 (GRCm39) R288L probably benign Het
Lars2 A T 9: 123,282,313 (GRCm39) L632F probably damaging Het
Mpdz T C 4: 81,235,919 (GRCm39) D1220G probably damaging Het
Msl1 C T 11: 98,696,245 (GRCm39) T597I probably damaging Het
Mtor T C 4: 148,615,070 (GRCm39) probably benign Het
Myo1b T C 1: 51,821,179 (GRCm39) T435A probably damaging Het
Neb A G 2: 52,115,679 (GRCm39) Y4176H probably damaging Het
Nxpe3 A G 16: 55,670,128 (GRCm39) F326L probably benign Het
Or13a21 T C 7: 139,999,581 (GRCm39) Y35C probably damaging Het
Or2ag1 A G 7: 106,313,541 (GRCm39) S116P possibly damaging Het
Peak1 C A 9: 56,166,486 (GRCm39) V481L probably damaging Het
Pik3ap1 G A 19: 41,281,267 (GRCm39) probably benign Het
Pmm1 C T 15: 81,844,987 (GRCm39) E6K probably benign Het
Ppp2r5c G A 12: 110,546,868 (GRCm39) V454M probably benign Het
Ptprf C T 4: 118,106,095 (GRCm39) probably null Het
Pygm G A 19: 6,443,024 (GRCm39) probably null Het
Rimbp2 T A 5: 128,874,912 (GRCm39) probably benign Het
Rps6ka5 A T 12: 100,541,892 (GRCm39) probably null Het
Scarb2 A G 5: 92,608,662 (GRCm39) V188A probably benign Het
Sfrp1 T A 8: 23,902,354 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,820 (GRCm39) probably benign Het
Smgc A G 15: 91,738,796 (GRCm39) I485V probably benign Het
Tas2r124 A G 6: 132,731,798 (GRCm39) I36V probably benign Het
Trmt10b G T 4: 45,305,879 (GRCm39) G185W probably damaging Het
Ttll4 A G 1: 74,727,352 (GRCm39) N798S possibly damaging Het
Ttn G T 2: 76,619,896 (GRCm39) T15924N probably damaging Het
Utrn A T 10: 12,587,301 (GRCm39) Y912N possibly damaging Het
Vmn2r113 T C 17: 23,177,285 (GRCm39) Y690H probably benign Het
Vmn2r51 T C 7: 9,834,154 (GRCm39) R295G probably damaging Het
Vpreb3 A G 10: 75,784,231 (GRCm39) T14A probably benign Het
Other mutations in Pak5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Pak5 APN 2 135,958,293 (GRCm39) missense possibly damaging 0.89
IGL02601:Pak5 APN 2 135,958,855 (GRCm39) nonsense probably null
IGL03172:Pak5 APN 2 135,940,310 (GRCm39) nonsense probably null
currency UTSW 2 135,942,859 (GRCm39) missense probably benign 0.15
Depreciation UTSW 2 135,939,454 (GRCm39) missense probably damaging 1.00
PIT4498001:Pak5 UTSW 2 135,925,211 (GRCm39) missense probably damaging 1.00
R0025:Pak5 UTSW 2 135,942,704 (GRCm39) missense possibly damaging 0.68
R0025:Pak5 UTSW 2 135,942,704 (GRCm39) missense possibly damaging 0.68
R0400:Pak5 UTSW 2 135,939,499 (GRCm39) missense possibly damaging 0.95
R0441:Pak5 UTSW 2 135,958,549 (GRCm39) missense probably benign
R1653:Pak5 UTSW 2 135,958,807 (GRCm39) missense probably damaging 1.00
R1662:Pak5 UTSW 2 135,958,680 (GRCm39) missense probably damaging 0.96
R1855:Pak5 UTSW 2 135,929,429 (GRCm39) missense probably benign 0.00
R1872:Pak5 UTSW 2 135,927,508 (GRCm39) missense possibly damaging 0.93
R2001:Pak5 UTSW 2 135,958,557 (GRCm39) missense probably benign 0.00
R2002:Pak5 UTSW 2 135,958,557 (GRCm39) missense probably benign 0.00
R2157:Pak5 UTSW 2 135,942,877 (GRCm39) missense probably damaging 0.96
R2160:Pak5 UTSW 2 135,940,302 (GRCm39) missense probably benign 0.01
R2217:Pak5 UTSW 2 135,958,123 (GRCm39) missense probably damaging 1.00
R3797:Pak5 UTSW 2 135,942,746 (GRCm39) missense probably benign 0.06
R4711:Pak5 UTSW 2 135,929,437 (GRCm39) missense probably damaging 1.00
R4904:Pak5 UTSW 2 135,925,267 (GRCm39) missense probably benign 0.02
R5090:Pak5 UTSW 2 135,929,338 (GRCm39) missense probably damaging 1.00
R5120:Pak5 UTSW 2 135,925,149 (GRCm39) missense probably damaging 0.97
R5669:Pak5 UTSW 2 135,958,204 (GRCm39) missense probably damaging 1.00
R5954:Pak5 UTSW 2 135,958,383 (GRCm39) missense probably benign 0.01
R6127:Pak5 UTSW 2 135,929,326 (GRCm39) missense probably damaging 0.99
R6250:Pak5 UTSW 2 136,016,189 (GRCm39) start gained probably benign
R6471:Pak5 UTSW 2 135,958,110 (GRCm39) missense probably benign 0.00
R6797:Pak5 UTSW 2 135,939,454 (GRCm39) missense probably damaging 1.00
R6809:Pak5 UTSW 2 135,939,501 (GRCm39) missense possibly damaging 0.83
R6945:Pak5 UTSW 2 135,942,859 (GRCm39) missense probably benign 0.15
R7254:Pak5 UTSW 2 135,958,684 (GRCm39) missense possibly damaging 0.50
R7265:Pak5 UTSW 2 135,943,105 (GRCm39) missense probably benign 0.03
R7335:Pak5 UTSW 2 135,940,219 (GRCm39) missense probably damaging 1.00
R7511:Pak5 UTSW 2 135,925,244 (GRCm39) missense possibly damaging 0.87
R7573:Pak5 UTSW 2 135,958,225 (GRCm39) missense probably damaging 1.00
R7593:Pak5 UTSW 2 135,942,884 (GRCm39) missense probably benign 0.40
R7908:Pak5 UTSW 2 135,958,479 (GRCm39) missense probably benign 0.14
R8304:Pak5 UTSW 2 135,940,203 (GRCm39) missense probably benign 0.11
R9091:Pak5 UTSW 2 135,958,688 (GRCm39) missense probably damaging 0.98
R9177:Pak5 UTSW 2 135,943,126 (GRCm39) missense probably benign 0.00
R9270:Pak5 UTSW 2 135,958,688 (GRCm39) missense probably damaging 0.98
R9505:Pak5 UTSW 2 135,958,812 (GRCm39) missense probably damaging 1.00
Z1176:Pak5 UTSW 2 135,925,166 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04