Incidental Mutation 'R2217:Pak5'
ID 241197
Institutional Source Beutler Lab
Gene Symbol Pak5
Ensembl Gene ENSMUSG00000039913
Gene Name p21 (RAC1) activated kinase 5
Synonyms Pak5, Pak7, 2900083L08Rik
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 135923024-136229887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135958123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 322 (S322P)
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: S322P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: S322P

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: S322P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: S322P

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly 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
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
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'- GCTTGTAATAGATCCCCAAAGCC -3'
(R):5'- TATGACAGGAGGCCAAAATCATC -3'

Sequencing Primer
(F):5'- GACATATGGACCTTGTTTTAAAGCC -3'
(R):5'- TCATCATACCTGCATCAGACGAG -3'
Posted On 2014-10-15