Incidental Mutation 'R2002:Pak5'
ID 223150
Institutional Source Beutler Lab
Gene Symbol Pak5
Ensembl Gene ENSMUSG00000039913
Gene Name p21 (RAC1) activated kinase 5
Synonyms Pak5, Pak7, 2900083L08Rik
MMRRC Submission 040012-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2002 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 135923024-136229887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135958557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 177 (H177L)
Ref Sequence ENSEMBL: ENSMUSP00000076440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035264] [ENSMUST00000077200]
AlphaFold Q8C015
Predicted Effect probably benign
Transcript: ENSMUST00000035264
AA Change: H177L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047285
Gene: ENSMUSG00000039913
AA Change: H177L

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 benign
Transcript: ENSMUST00000077200
AA Change: H177L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000076440
Gene: ENSMUSG00000039913
AA Change: H177L

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
Meta Mutation Damage Score 0.1040 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.6%
Validation Efficiency 97% (72/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548G14Rik T C 15: 46,489,002 (GRCm39) noncoding transcript Het
Abcb4 T A 5: 8,955,989 (GRCm39) S98T probably benign Het
Acan T C 7: 78,750,541 (GRCm39) S1771P probably damaging Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Ak2 T A 4: 128,902,022 (GRCm39) S232T probably benign Het
Akr1e1 T A 13: 4,657,564 (GRCm39) probably benign Het
Ano7 T C 1: 93,328,303 (GRCm39) probably benign Het
Aox1 T A 1: 58,086,300 (GRCm39) H68Q possibly damaging Het
Apaf1 A G 10: 90,897,676 (GRCm39) V269A possibly damaging Het
Apba2 A T 7: 64,383,290 (GRCm39) I368F probably damaging Het
Armc3 A G 2: 19,293,747 (GRCm39) M513V probably benign Het
Asb5 G A 8: 55,036,655 (GRCm39) V116M probably damaging Het
Atg16l2 A G 7: 100,944,127 (GRCm39) S280P possibly damaging Het
Atp6v0c G T 17: 24,383,835 (GRCm39) T40K probably damaging Het
Cdk2ap2 A G 19: 4,147,903 (GRCm39) M57V possibly damaging Het
Cip2a T C 16: 48,826,214 (GRCm39) probably benign Het
Ctnnd1 T C 2: 84,450,704 (GRCm39) N172S probably benign Het
Ddx55 T A 5: 124,704,503 (GRCm39) V370E probably damaging Het
Ddx6 A G 9: 44,518,831 (GRCm39) T48A probably benign Het
Dnah10 C T 5: 124,911,052 (GRCm39) R4490W probably damaging Het
Dspp T A 5: 104,326,425 (GRCm39) S929R unknown Het
Erbb3 T C 10: 128,422,094 (GRCm39) Y50C probably benign Het
Fam209 C A 2: 172,314,689 (GRCm39) N59K probably benign Het
Fgd3 T C 13: 49,449,931 (GRCm39) E106G probably benign Het
Frmd4a A C 2: 4,577,176 (GRCm39) K344T probably damaging Het
Gbe1 A G 16: 70,325,814 (GRCm39) E617G probably damaging Het
Gm5089 T A 14: 122,673,686 (GRCm39) I12F unknown Het
Gm7052 T A 17: 22,258,920 (GRCm39) probably benign Het
Gria1 A T 11: 56,902,930 (GRCm39) N24I possibly damaging Het
Grin2b T C 6: 135,710,243 (GRCm39) E1101G probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Kcnma1 A C 14: 23,387,097 (GRCm39) S982A probably damaging Het
Khdrbs3 T A 15: 68,885,328 (GRCm39) probably benign Het
Kif23 A T 9: 61,834,666 (GRCm39) C426* probably null Het
Lmo7 G T 14: 102,124,497 (GRCm39) A319S probably benign Het
Ly6c1 T A 15: 74,920,342 (GRCm39) T7S possibly damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Mamdc4 A T 2: 25,457,244 (GRCm39) W548R probably damaging Het
Mfsd2a C T 4: 122,850,609 (GRCm39) R88Q probably damaging Het
Mkrn1 T C 6: 39,382,737 (GRCm39) T158A probably benign Het
Mroh2b G T 15: 4,955,166 (GRCm39) D720Y probably damaging Het
Mycbp2 A G 14: 103,485,839 (GRCm39) V1041A probably damaging Het
Ncam2 A T 16: 81,386,586 (GRCm39) H655L possibly damaging Het
Npas2 T C 1: 39,377,276 (GRCm39) V546A probably benign Het
Nrxn3 G A 12: 90,299,089 (GRCm39) A400T probably damaging Het
Oog3 G T 4: 143,884,675 (GRCm39) H420Q possibly damaging Het
Or3a10 A T 11: 73,935,865 (GRCm39) S78R possibly damaging Het
Or5ap2 T A 2: 85,680,744 (GRCm39) V316E probably benign Het
Or8k28 T C 2: 86,285,817 (GRCm39) H266R probably benign Het
Pcca A G 14: 123,124,477 (GRCm39) I683V probably benign Het
Pea15a T C 1: 172,026,252 (GRCm39) I90V probably benign Het
Plagl1 C A 10: 13,004,402 (GRCm39) probably benign Het
Prmt1 A G 7: 44,628,148 (GRCm39) V237A probably damaging Het
Ptprz1 T A 6: 23,027,833 (GRCm39) Y910* probably null Het
Rasal3 T A 17: 32,612,585 (GRCm39) T757S probably damaging Het
Rbbp8 T C 18: 11,860,223 (GRCm39) probably benign Het
S1pr1 A G 3: 115,506,544 (GRCm39) S17P probably benign Het
Scel G A 14: 103,779,421 (GRCm39) V131M probably damaging Het
Scn2a G A 2: 65,512,427 (GRCm39) R188Q probably null Het
Snap29 T A 16: 17,224,190 (GRCm39) Y68* probably null Het
Spdl1 T C 11: 34,713,473 (GRCm39) T199A probably benign Het
Srbd1 T C 17: 86,449,828 (GRCm39) N14D probably benign Het
Ston1 G A 17: 88,942,957 (GRCm39) G121D probably benign Het
Syt16 G A 12: 74,281,977 (GRCm39) G367E possibly damaging Het
Tdpoz1 T C 3: 93,578,710 (GRCm39) T25A possibly damaging Het
Tmem182 T A 1: 40,845,355 (GRCm39) Y77N probably damaging Het
Tmprss11f A T 5: 86,687,627 (GRCm39) probably benign Het
Trp73 T C 4: 154,165,902 (GRCm39) T56A probably damaging Het
Trpm3 A G 19: 22,959,947 (GRCm39) K1194R probably damaging Het
Ttc39c T A 18: 12,830,935 (GRCm39) probably null Het
Ube4b T C 4: 149,468,254 (GRCm39) D174G probably benign Het
Vmn1r211 A T 13: 23,035,953 (GRCm39) M238K probably damaging Het
Wsb2 T A 5: 117,508,798 (GRCm39) N77K probably benign Het
Xkr4 C T 1: 3,741,318 (GRCm39) R85Q probably benign Het
Zmynd11 T A 13: 9,739,514 (GRCm39) probably null 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
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'- CTGTATGCCAGACTCTCCTTGG -3'
(R):5'- TCGGAAGAGAACGGCTTCATC -3'

Sequencing Primer
(F):5'- CTGGTCCCTGCAGTTCTAGAAG -3'
(R):5'- GGAAGAGAACGGCTTCATCACTTTC -3'
Posted On 2014-08-25