Incidental Mutation 'IGL02557:Pak1'
ID298333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pak1
Ensembl Gene ENSMUSG00000030774
Gene Namep21 (RAC1) activated kinase 1
SynonymsPaka, PAK-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02557
Quality Score
Status
Chromosome7
Chromosomal Location97788541-97912381 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97871587 bp
ZygosityHeterozygous
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]
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: 130,742,707 P222L probably benign Het
AI464131 C T 4: 41,497,900 V577M possibly damaging Het
Alg12 T A 15: 88,816,207 K9* probably null Het
Arhgap20 T C 9: 51,821,273 V119A probably damaging Het
Arhgap45 T C 10: 80,021,638 Y178H probably damaging Het
Atad2 A T 15: 58,122,597 S243T probably benign Het
Atp13a5 A C 16: 29,248,182 F1013V probably benign Het
Atp1a2 T G 1: 172,278,651 T865P possibly damaging Het
Bcas2 T C 3: 103,171,867 probably benign Het
Ccnk T C 12: 108,195,726 S297P unknown Het
Cdk5 A T 5: 24,419,653 S215T probably benign Het
Ciita T A 16: 10,512,015 L798Q probably damaging Het
Clcn2 A G 16: 20,708,464 S584P probably damaging Het
Cntn6 A G 6: 104,774,535 Y384C probably damaging Het
Cyp2b10 T A 7: 25,914,881 V260D probably benign Het
Dsel A T 1: 111,862,570 H78Q probably damaging Het
Eml3 T C 19: 8,931,381 probably benign Het
Fcgr2b C A 1: 170,963,322 probably null Het
Fryl A T 5: 73,098,393 L765Q probably damaging Het
Gas2 T A 7: 51,887,933 M2K probably damaging Het
Gm13941 T C 2: 111,101,156 K44E unknown Het
Gm42878 A G 5: 121,527,131 S205P possibly damaging Het
Hcn3 A T 3: 89,149,871 S473R probably damaging Het
Hnrnpr A G 4: 136,319,506 E65G probably damaging Het
Ints1 A T 5: 139,771,637 V375E probably damaging Het
Lama5 A T 2: 180,190,932 C1642* probably null Het
Lsr T G 7: 30,958,494 E347A possibly damaging Het
Mapre2 C A 18: 23,832,957 T33K probably damaging Het
Myo3b T A 2: 70,255,319 F772I probably benign Het
Nbas T C 12: 13,361,028 V891A probably damaging Het
Neurl4 A T 11: 69,906,335 I583F probably damaging Het
Nsd1 T C 13: 55,312,448 S2163P probably damaging Het
Nup210l T C 3: 90,124,230 Y288H probably damaging Het
Olfr1212 A G 2: 88,958,681 I72V probably benign Het
Olfr1329 T C 4: 118,917,192 T92A probably benign Het
Phtf1 A G 3: 103,998,765 N588D probably damaging Het
Prom2 T C 2: 127,529,471 T756A possibly damaging Het
Ptgfrn C T 3: 101,060,636 probably null Het
Seh1l T C 18: 67,789,413 S279P probably benign Het
Sema3f A T 9: 107,687,212 M35K probably damaging Het
Spesp1 T C 9: 62,273,134 E164G possibly damaging Het
Sprr3 T C 3: 92,457,166 T124A possibly damaging Het
Trim24 A C 6: 37,965,499 probably null Het
Unc79 A G 12: 103,182,159 probably benign Het
Vmn2r77 T A 7: 86,795,134 probably benign Het
Other mutations in Pak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Pak1 APN 7 97854568 missense probably benign 0.03
IGL01676:Pak1 APN 7 97883531 missense probably benign 0.00
IGL02058:Pak1 APN 7 97911115 missense probably damaging 1.00
IGL02678:Pak1 APN 7 97894002 missense probably damaging 0.99
R1739:Pak1 UTSW 7 97904695 missense probably damaging 1.00
R1874:Pak1 UTSW 7 97871580 missense probably benign 0.23
R2057:Pak1 UTSW 7 97907797 splice site probably null
R2363:Pak1 UTSW 7 97886314 missense probably benign 0.01
R2420:Pak1 UTSW 7 97854479 missense probably benign 0.02
R2880:Pak1 UTSW 7 97904811 missense probably damaging 1.00
R3113:Pak1 UTSW 7 97866114 nonsense probably null
R3722:Pak1 UTSW 7 97854497 missense probably damaging 1.00
R4363:Pak1 UTSW 7 97883586 missense possibly damaging 0.49
R6021:Pak1 UTSW 7 97854463 missense probably damaging 1.00
R6459:Pak1 UTSW 7 97907881 missense probably benign 0.04
R6820:Pak1 UTSW 7 97886379 missense probably benign
R7336:Pak1 UTSW 7 97888972 missense probably benign 0.13
R7717:Pak1 UTSW 7 97886348 missense probably benign 0.00
X0027:Pak1 UTSW 7 97904752 missense probably damaging 0.99
Posted On2015-04-16