Incidental Mutation 'R1653:Pak5'
ID 188836
Institutional Source Beutler Lab
Gene Symbol Pak5
Ensembl Gene ENSMUSG00000039913
Gene Name p21 (RAC1) activated kinase 5
Synonyms Pak5, Pak7, 2900083L08Rik
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 135923024-136229887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135958807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 94 (V94M)
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: V94M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: V94M

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: V94M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: V94M

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably damaging Het
Other mutations in Pak5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Pak5 APN 2 135,958,293 (GRCm39) missense possibly damaging 0.89
IGL01743:Pak5 APN 2 135,929,333 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GATCCAGGTCATCTCCATAGAGACTCC -3'
(R):5'- GAAAACACGACATTAGGTGCCATGC -3'

Sequencing Primer
(F):5'- GAGACTCCTGTCTCTGTACTTTTCAG -3'
(R):5'- GGTGCCATGCTAGTTATAAGTAAG -3'
Posted On 2014-05-09