Incidental Mutation 'R6820:Pak1'
ID 537566
Institutional Source Beutler Lab
Gene Symbol Pak1
Ensembl Gene ENSMUSG00000030774
Gene Name p21 (RAC1) activated kinase 1
Synonyms Paka, PAK-1
MMRRC Submission 044932-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6820 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 97437748-97561588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97535586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 226 (N226D)
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: N226D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: N226D

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: N226D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,673,266 (GRCm39) N141Y probably null Het
Chkb A G 15: 89,312,379 (GRCm39) L46P probably damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Dna2 T C 10: 62,800,683 (GRCm39) I739T possibly damaging Het
Dnah17 T C 11: 117,959,826 (GRCm39) H2620R probably damaging Het
Dsel A G 1: 111,787,547 (GRCm39) V996A probably damaging Het
Dst T C 1: 34,250,337 (GRCm39) L1757S probably damaging Het
Exoc5 A T 14: 49,286,387 (GRCm39) probably null Het
Fam120a A T 13: 49,034,468 (GRCm39) V1048E possibly damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fbxw19 T A 9: 109,311,079 (GRCm39) T377S probably benign Het
Fbxw28 A T 9: 109,167,493 (GRCm39) F88Y probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Gtsf1 T C 15: 103,328,954 (GRCm39) T92A probably benign Het
Hoxc13 A G 15: 102,830,257 (GRCm39) Y212C probably damaging Het
Itih2 T C 2: 10,102,909 (GRCm39) I742V probably benign Het
Kat7 T C 11: 95,174,965 (GRCm39) T351A probably damaging Het
Mlh3 T C 12: 85,294,497 (GRCm39) D1233G probably damaging Het
Mroh2b A G 15: 4,982,756 (GRCm39) D1525G probably damaging Het
Nme5 T C 18: 34,704,626 (GRCm39) Y73C probably damaging Het
Nr3c2 T C 8: 77,969,086 (GRCm39) V957A probably damaging Het
Nup153 A G 13: 46,863,459 (GRCm39) S301P probably benign Het
Obscn T C 11: 58,942,019 (GRCm39) D5013G probably damaging Het
Or4f54 C T 2: 111,123,455 (GRCm39) P281S probably damaging Het
Or5p51 A G 7: 107,444,298 (GRCm39) V214A probably benign Het
Or8g51 A G 9: 38,608,771 (GRCm39) V297A possibly damaging Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pkp3 T C 7: 140,659,757 (GRCm39) probably null Het
Prxl2b A T 4: 154,982,623 (GRCm39) D50E probably damaging Het
Psd G T 19: 46,309,283 (GRCm39) A558E probably damaging Het
Psmd14 C A 2: 61,607,068 (GRCm39) H172N probably benign Het
Pygb G T 2: 150,658,674 (GRCm39) W366L possibly damaging Het
Rbm39 A T 2: 156,021,146 (GRCm39) M1K probably null Het
Rnf213 T C 11: 119,339,664 (GRCm39) I3421T probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Smg6 T C 11: 74,932,790 (GRCm39) V88A probably damaging Het
Tha1 T C 11: 117,762,504 (GRCm39) E80G probably benign Het
Tie1 A G 4: 118,341,583 (GRCm39) V243A probably damaging Het
Tmem215 T C 4: 40,473,926 (GRCm39) M1T probably null Het
Tpm2 A G 4: 43,518,443 (GRCm39) Y221H probably damaging Het
Ubap1 C T 4: 41,379,854 (GRCm39) P356L probably benign Het
Wbp2nl G T 15: 82,197,996 (GRCm39) A178S possibly damaging Het
Wdr54 A T 6: 83,131,601 (GRCm39) S139T probably benign Het
Wipi2 G C 5: 142,615,555 (GRCm39) Q14H probably benign Het
Zan T C 5: 137,406,106 (GRCm39) probably benign Het
Zfp735 A G 11: 73,579,783 (GRCm39) M1V probably null 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
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
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'- CAGATTTTGGCCTTGAAGAGAAGG -3'
(R):5'- GGAGCATTCAGATCTTTATTGTAGC -3'

Sequencing Primer
(F):5'- TTTGGCCTTGAAGAGAAGGGATGAG -3'
(R):5'- GCACTCCATCTCAATGATTAATCAGG -3'
Posted On 2018-10-18