Incidental Mutation 'R7573:Pak5'
ID 586132
Institutional Source Beutler Lab
Gene Symbol Pak5
Ensembl Gene ENSMUSG00000039913
Gene Name p21 (RAC1) activated kinase 5
Synonyms Pak5, Pak7, 2900083L08Rik
MMRRC Submission 045659-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7573 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 135923024-136229887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135958225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 288 (S288P)
Ref Sequence ENSEMBL: ENSMUSP00000047285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035264] [ENSMUST00000077200]
AlphaFold Q8C015
Predicted Effect probably damaging
Transcript: ENSMUST00000035264
AA Change: S288P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: S288P

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: S288P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: S288P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,366,917 (GRCm39) I49F Het
1810055G02Rik T A 19: 3,765,728 (GRCm39) M1K probably null Het
Abcb1b G A 5: 8,878,866 (GRCm39) C750Y possibly damaging Het
Abi2 T A 1: 60,509,867 (GRCm39) V412D probably benign Het
Alk C T 17: 72,207,787 (GRCm39) V983M probably damaging Het
Alppl2 A T 1: 87,015,953 (GRCm39) W266R possibly damaging Het
Arhgef18 A G 8: 3,434,918 (GRCm39) R188G probably damaging Het
Atp2c2 A T 8: 120,478,008 (GRCm39) D695V probably damaging Het
B3gnt4 A T 5: 123,648,718 (GRCm39) I28L probably benign Het
C2cd3 A G 7: 100,068,914 (GRCm39) D536G Het
Cacna1c A G 6: 118,581,406 (GRCm39) S1733P Het
Cacna1e T C 1: 154,601,911 (GRCm39) probably benign Het
Capns1 A G 7: 29,891,960 (GRCm39) F101L probably damaging Het
Ccdc180 A G 4: 45,922,015 (GRCm39) T1030A probably benign Het
Cdh23 T C 10: 60,159,329 (GRCm39) T2151A probably benign Het
Cenpe T A 3: 134,953,220 (GRCm39) L1558Q probably damaging Het
Cfap157 T C 2: 32,667,520 (GRCm39) H521R probably benign Het
Crygs T A 16: 22,624,069 (GRCm39) *179C probably null Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cul9 T C 17: 46,830,836 (GRCm39) T1686A probably benign Het
Cutc T C 19: 43,748,382 (GRCm39) V95A probably benign Het
Cxcl3 A G 5: 90,934,105 (GRCm39) T26A probably benign Het
Dnah9 A G 11: 66,016,041 (GRCm39) V400A probably benign Het
Dysf A T 6: 84,107,104 (GRCm39) N1139I possibly damaging Het
Fam136a G A 6: 86,343,667 (GRCm39) E55K probably benign Het
Fam151a A G 4: 106,600,502 (GRCm39) D179G probably damaging Het
Fam178b T C 1: 36,671,533 (GRCm39) D196G probably damaging Het
Fut9 A T 4: 25,620,691 (GRCm39) M41K probably benign Het
Gm9195 T C 14: 72,694,122 (GRCm39) Q1531R probably null Het
Gpr6 A T 10: 40,946,868 (GRCm39) V238D probably damaging Het
Hoxa2 A T 6: 52,140,283 (GRCm39) S234R probably benign Het
Itga4 A G 2: 79,103,337 (GRCm39) T143A probably benign Het
Kcnq2 A G 2: 180,723,382 (GRCm39) S693P probably benign Het
Kif13b A G 14: 65,041,107 (GRCm39) I1732V probably benign Het
Klhl14 A G 18: 21,785,211 (GRCm39) V72A probably benign Het
Krt1c T A 15: 101,722,954 (GRCm39) D348V probably benign Het
Map4k2 A T 19: 6,394,094 (GRCm39) E300D probably benign Het
Mars1 A G 10: 127,138,679 (GRCm39) probably null Het
Mpo A G 11: 87,688,403 (GRCm39) D354G probably benign Het
Mrpl15 T C 1: 4,847,778 (GRCm39) T174A probably damaging Het
Myom2 G A 8: 15,172,450 (GRCm39) C1183Y probably damaging Het
Nfkb2 C A 19: 46,297,082 (GRCm39) Q336K possibly damaging Het
Nlrp2 A G 7: 5,320,468 (GRCm39) probably null Het
Nlrp9b T C 7: 19,753,125 (GRCm39) L10P probably damaging Het
Nrip2 A G 6: 128,377,232 (GRCm39) S53G probably benign Het
Or13a22 G A 7: 140,072,912 (GRCm39) M120I probably damaging Het
Or4k36 T C 2: 111,146,277 (GRCm39) I151T probably benign Het
Or52a5b A G 7: 103,416,677 (GRCm39) M309T probably benign Het
Or52z13 C T 7: 103,246,735 (GRCm39) L71F probably benign Het
Or8b54 A T 9: 38,686,791 (GRCm39) K80I probably damaging Het
Or8g18 C T 9: 39,148,977 (GRCm39) V248I probably benign Het
Pjvk T C 2: 76,487,809 (GRCm39) F234L probably benign Het
Plekhm2 T C 4: 141,358,658 (GRCm39) N616D probably benign Het
Pnkp C T 7: 44,506,852 (GRCm39) R9C probably damaging Het
Prom1 A G 5: 44,213,272 (GRCm39) C154R probably damaging Het
Rab3gap2 T A 1: 185,014,579 (GRCm39) W1243R probably benign Het
Rad17 C T 13: 100,765,974 (GRCm39) A385T probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rnf213 T C 11: 119,349,310 (GRCm39) C3804R Het
Ros1 T A 10: 52,046,072 (GRCm39) T153S probably benign Het
Sema4g T C 19: 44,986,010 (GRCm39) S284P probably damaging Het
Septin9 C T 11: 117,090,571 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,574,569 (GRCm39) S236G probably damaging Het
Slc9c1 T C 16: 45,398,256 (GRCm39) F674L probably benign Het
Slfn5 A T 11: 82,849,585 (GRCm39) K361N probably damaging Het
Smad6 A G 9: 63,929,052 (GRCm39) L88S unknown Het
Smarca4 T A 9: 21,550,371 (GRCm39) probably null Het
Smg7 A T 1: 152,735,240 (GRCm39) N198K probably damaging Het
Sorcs1 G A 19: 50,141,234 (GRCm39) Q1166* probably null Het
Stap1 A G 5: 86,238,854 (GRCm39) N212S possibly damaging Het
Tbx2 C G 11: 85,724,138 (GRCm39) A69G possibly damaging Het
Tmc1 C A 19: 20,884,372 (GRCm39) D23Y probably damaging Het
Tmf1 A T 6: 97,135,455 (GRCm39) D940E probably benign Het
Trim27 T A 13: 21,364,770 (GRCm39) C36S probably damaging Het
Unc80 G A 1: 66,560,696 (GRCm39) G808D probably damaging Het
Usp17ld G T 7: 102,900,094 (GRCm39) Y279* probably null Het
Usp40 G A 1: 87,913,794 (GRCm39) A433V probably benign Het
Vmn1r49 G A 6: 90,049,843 (GRCm39) A53V probably benign Het
Vmn1r84 T C 7: 12,095,787 (GRCm39) N302S probably benign Het
Wfdc2 A T 2: 164,407,741 (GRCm39) I137L probably benign 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
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
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'- AGATGCTGGCCATGTAGAGC -3'
(R):5'- TCAGAGAGCCTCTAGTAGCTCC -3'

Sequencing Primer
(F):5'- TGGAATGCACATTGTGGG -3'
(R):5'- AGTAGCTCCCCTCTGGACTAC -3'
Posted On 2019-10-24