Incidental Mutation 'IGL02557:Pak1'
ID 298333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pak1
Ensembl Gene ENSMUSG00000030774
Gene Name p21 (RAC1) activated kinase 1
Synonyms Paka, PAK-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02557
Quality Score
Status
Chromosome 7
Chromosomal Location 97437748-97561588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97520794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 151 (E151G)
Ref Sequence ENSEMBL: ENSMUSP00000138684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033040] [ENSMUST00000156637] [ENSMUST00000206984]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033040
AA Change: E151G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: E151G

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
PBD 75 110 3.92e-16 SMART
low complexity region 168 191 N/A INTRINSIC
S_TKc 269 520 7.19e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156637
AA Change: E151G

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774
AA Change: E151G

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
PBD 75 110 3.92e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206984
AA Change: E151G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele display defects in allergen-induced mast cell migration and degranulation. Mice homozygous for a different knock-out allele exhibit reduced long term potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,670,444 (GRCm39) P222L probably benign Het
Alg12 T A 15: 88,700,410 (GRCm39) K9* probably null Het
Arhgap20 T C 9: 51,732,573 (GRCm39) V119A probably damaging Het
Arhgap45 T C 10: 79,857,472 (GRCm39) Y178H probably damaging Het
Atad2 A T 15: 57,985,993 (GRCm39) S243T probably benign Het
Atp13a5 A C 16: 29,066,934 (GRCm39) F1013V probably benign Het
Atp1a2 T G 1: 172,106,218 (GRCm39) T865P possibly damaging Het
Bcas2 T C 3: 103,079,183 (GRCm39) probably benign Het
Ccnk T C 12: 108,161,985 (GRCm39) S297P unknown Het
Cdk5 A T 5: 24,624,651 (GRCm39) S215T probably benign Het
Ciita T A 16: 10,329,879 (GRCm39) L798Q probably damaging Het
Clcn2 A G 16: 20,527,214 (GRCm39) S584P probably damaging Het
Cntn6 A G 6: 104,751,496 (GRCm39) Y384C probably damaging Het
Cyp2b10 T A 7: 25,614,306 (GRCm39) V260D probably benign Het
Dsel A T 1: 111,790,300 (GRCm39) H78Q probably damaging Het
Eml3 T C 19: 8,908,745 (GRCm39) probably benign Het
Fcgr2b C A 1: 170,790,891 (GRCm39) probably null Het
Fryl A T 5: 73,255,736 (GRCm39) L765Q probably damaging Het
Gas2 T A 7: 51,537,681 (GRCm39) M2K probably damaging Het
Gm13941 T C 2: 110,931,501 (GRCm39) K44E unknown Het
Gm42878 A G 5: 121,665,194 (GRCm39) S205P possibly damaging Het
Hcn3 A T 3: 89,057,178 (GRCm39) S473R probably damaging Het
Hnrnpr A G 4: 136,046,817 (GRCm39) E65G probably damaging Het
Ints1 A T 5: 139,757,392 (GRCm39) V375E probably damaging Het
Lama5 A T 2: 179,832,725 (GRCm39) C1642* probably null Het
Lsr T G 7: 30,657,919 (GRCm39) E347A possibly damaging Het
Mapre2 C A 18: 23,966,014 (GRCm39) T33K probably damaging Het
Myo3b T A 2: 70,085,663 (GRCm39) F772I probably benign Het
Myorg C T 4: 41,497,900 (GRCm39) V577M possibly damaging Het
Nbas T C 12: 13,411,029 (GRCm39) V891A probably damaging Het
Neurl4 A T 11: 69,797,161 (GRCm39) I583F probably damaging Het
Nsd1 T C 13: 55,460,261 (GRCm39) S2163P probably damaging Het
Nup210l T C 3: 90,031,537 (GRCm39) Y288H probably damaging Het
Or10ak8 T C 4: 118,774,389 (GRCm39) T92A probably benign Het
Or4c107 A G 2: 88,789,025 (GRCm39) I72V probably benign Het
Phtf1 A G 3: 103,906,081 (GRCm39) N588D probably damaging Het
Prom2 T C 2: 127,371,391 (GRCm39) T756A possibly damaging Het
Ptgfrn C T 3: 100,967,952 (GRCm39) probably null Het
Seh1l T C 18: 67,922,483 (GRCm39) S279P probably benign Het
Sema3f A T 9: 107,564,411 (GRCm39) M35K probably damaging Het
Spesp1 T C 9: 62,180,416 (GRCm39) E164G possibly damaging Het
Sprr3 T C 3: 92,364,473 (GRCm39) T124A possibly damaging Het
Trim24 A C 6: 37,942,434 (GRCm39) probably null Het
Unc79 A G 12: 103,148,418 (GRCm39) probably benign Het
Vmn2r77 T A 7: 86,444,342 (GRCm39) probably benign Het
Other mutations in Pak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Pak1 APN 7 97,503,775 (GRCm39) missense probably benign 0.03
IGL01676:Pak1 APN 7 97,532,738 (GRCm39) missense probably benign 0.00
IGL02058:Pak1 APN 7 97,560,322 (GRCm39) missense probably damaging 1.00
IGL02678:Pak1 APN 7 97,543,209 (GRCm39) missense probably damaging 0.99
R1739:Pak1 UTSW 7 97,553,902 (GRCm39) missense probably damaging 1.00
R1874:Pak1 UTSW 7 97,520,787 (GRCm39) missense probably benign 0.23
R2057:Pak1 UTSW 7 97,557,004 (GRCm39) splice site probably null
R2363:Pak1 UTSW 7 97,535,521 (GRCm39) missense probably benign 0.01
R2420:Pak1 UTSW 7 97,503,686 (GRCm39) missense probably benign 0.02
R2880:Pak1 UTSW 7 97,554,018 (GRCm39) missense probably damaging 1.00
R3113:Pak1 UTSW 7 97,515,321 (GRCm39) nonsense probably null
R3722:Pak1 UTSW 7 97,503,704 (GRCm39) missense probably damaging 1.00
R4363:Pak1 UTSW 7 97,532,793 (GRCm39) missense possibly damaging 0.49
R6021:Pak1 UTSW 7 97,503,670 (GRCm39) missense probably damaging 1.00
R6459:Pak1 UTSW 7 97,557,088 (GRCm39) missense probably benign 0.04
R6820:Pak1 UTSW 7 97,535,586 (GRCm39) missense probably benign
R7336:Pak1 UTSW 7 97,538,179 (GRCm39) missense probably benign 0.13
R7717:Pak1 UTSW 7 97,535,555 (GRCm39) missense probably benign 0.00
R8033:Pak1 UTSW 7 97,535,590 (GRCm39) missense probably benign
R8833:Pak1 UTSW 7 97,503,839 (GRCm39) missense possibly damaging 0.93
R9640:Pak1 UTSW 7 97,515,355 (GRCm39) missense probably benign 0.06
R9748:Pak1 UTSW 7 97,547,842 (GRCm39) missense possibly damaging 0.82
X0027:Pak1 UTSW 7 97,553,959 (GRCm39) missense probably damaging 0.99
Z1177:Pak1 UTSW 7 97,514,701 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16