Incidental Mutation 'R2363:Pak1'
ID 247221
Institutional Source Beutler Lab
Gene Symbol Pak1
Ensembl Gene ENSMUSG00000030774
Gene Name p21 (RAC1) activated kinase 1
Synonyms Paka, PAK-1
MMRRC Submission 040344-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2363 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 97437748-97561588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97535521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 204 (V204E)
Ref Sequence ENSEMBL: ENSMUSP00000146055 (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: V204E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: V204E

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
SMART Domains Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774

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: V204E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Meta Mutation Damage Score 0.0756 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (51/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T C 2: 103,397,528 (GRCm39) C153R probably damaging Het
Adam23 A G 1: 63,596,650 (GRCm39) probably null Het
Adpgk G T 9: 59,222,136 (GRCm39) M354I probably benign Het
Atmin G T 8: 117,681,653 (GRCm39) probably null Het
C1rl G A 6: 124,486,069 (GRCm39) G480D probably benign Het
C4b G A 17: 34,955,032 (GRCm39) probably benign Het
Cacnb1 G A 11: 97,903,672 (GRCm39) T127I possibly damaging Het
Cmya5 A T 13: 93,230,210 (GRCm39) V1626E probably benign Het
Cndp2 C T 18: 84,686,694 (GRCm39) G443S probably damaging Het
Crb1 A G 1: 139,265,016 (GRCm39) I134T possibly damaging Het
Dnaaf3 T C 7: 4,535,276 (GRCm39) probably null Het
Enam C T 5: 88,651,008 (GRCm39) P764L probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fbln1 G A 15: 85,111,341 (GRCm39) probably null Het
Flnb A G 14: 7,945,950 (GRCm38) I2452V possibly damaging Het
Fmo3 A T 1: 162,781,884 (GRCm39) W490R probably damaging Het
Gabrb1 C T 5: 72,026,916 (GRCm39) R106* probably null Het
Galnt4 C T 10: 98,944,923 (GRCm39) T216I probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Golph3 A G 15: 12,349,649 (GRCm39) D223G probably benign Het
Herc4 T A 10: 63,151,473 (GRCm39) F905I possibly damaging Het
Il23r T C 6: 67,429,401 (GRCm39) T314A probably benign Het
Lrrtm4 T C 6: 79,998,857 (GRCm39) W90R probably damaging Het
Maml2 C T 9: 13,532,541 (GRCm39) T585I probably damaging Het
Mpp3 G A 11: 101,911,312 (GRCm39) A170V probably damaging Het
Naip6 T A 13: 100,452,928 (GRCm39) K44N possibly damaging Het
Or10aa3 C T 1: 173,878,814 (GRCm39) R292C probably damaging Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or1e17 A G 11: 73,831,182 (GRCm39) T37A possibly damaging Het
Or4k51 C T 2: 111,585,139 (GRCm39) P182S probably damaging Het
Or51b6 T A 7: 103,556,267 (GRCm39) M207K probably benign Het
Or6f2 A G 7: 139,756,878 (GRCm39) T282A probably damaging Het
Or7e165 T G 9: 19,694,892 (GRCm39) I154M probably benign Het
Or8c10 T C 9: 38,279,394 (GRCm39) I174T probably damaging Het
Pcdhb10 T A 18: 37,547,190 (GRCm39) C755* probably null Het
Pcdhb20 A G 18: 37,638,725 (GRCm39) Y417C probably damaging Het
Pkd1l3 G T 8: 110,355,341 (GRCm39) W723L probably benign Het
Plin1 C T 7: 79,376,139 (GRCm39) probably null Het
Polr3a A T 14: 24,525,960 (GRCm39) probably null Het
Ranbp2 A T 10: 58,314,758 (GRCm39) K1826I possibly damaging Het
Rapgef1 A G 2: 29,626,608 (GRCm39) I970V possibly damaging Het
Rdx C A 9: 51,980,173 (GRCm39) F255L probably damaging Het
Rp1l1 A T 14: 64,267,447 (GRCm39) H1011L possibly damaging Het
Serpina6 T C 12: 103,614,868 (GRCm39) D326G probably benign Het
Sh3tc2 A G 18: 62,123,966 (GRCm39) E909G probably benign Het
Shprh T A 10: 11,047,697 (GRCm39) V1015D probably damaging Het
Slfn8 A T 11: 82,894,920 (GRCm39) Y629N probably damaging Het
Triml1 A G 8: 43,594,408 (GRCm39) S8P probably damaging 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
IGL02557:Pak1 APN 7 97,520,794 (GRCm39) missense probably benign 0.08
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
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
Predicted Primers PCR Primer
(F):5'- GTTTTACCCAGGGCAAATGG -3'
(R):5'- TGATTAATCAGGCACAGACTAAGGG -3'

Sequencing Primer
(F):5'- CAAATGGGCTGGGGCTC -3'
(R):5'- GCACAGACTAAGGGAAGACTC -3'
Posted On 2014-10-30