Incidental Mutation 'R9640:Pak1'
ID 725922
Institutional Source Beutler Lab
Gene Symbol Pak1
Ensembl Gene ENSMUSG00000030774
Gene Name p21 (RAC1) activated kinase 1
Synonyms Paka, PAK-1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9640 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 97437748-97561588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97515355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 126 (D126E)
Ref Sequence ENSEMBL: ENSMUSP00000033040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033040] [ENSMUST00000156637] [ENSMUST00000206351] [ENSMUST00000206984]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033040
AA Change: D126E

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: D126E

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 damaging
Transcript: ENSMUST00000156637
AA Change: D126E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774
AA Change: D126E

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
PBD 75 110 3.92e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206351
Predicted Effect probably benign
Transcript: ENSMUST00000206984
AA Change: D126E

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T C 16: 14,436,589 (GRCm39) V214A Het
A830018L16Rik A G 1: 12,021,200 (GRCm39) K403R probably damaging Het
Aadacl4fm4 T A 4: 144,412,809 (GRCm39) R44W possibly damaging Het
Abhd17c A T 7: 83,800,814 (GRCm39) L80Q probably damaging Het
Adam30 T A 3: 98,069,620 (GRCm39) D484E probably damaging Het
Aspm T A 1: 139,408,010 (GRCm39) V2299E possibly damaging Het
Atp6v1c1 C T 15: 38,689,381 (GRCm39) R281W probably damaging Het
Bclaf1 T C 10: 20,201,553 (GRCm39) probably null Het
Ccdc50 T C 16: 27,225,461 (GRCm39) V58A probably damaging Het
Cep162 A G 9: 87,126,352 (GRCm39) S187P probably benign Het
Clip4 C T 17: 72,163,264 (GRCm39) T612M possibly damaging Het
Corin C T 5: 72,592,597 (GRCm39) V267I probably benign Het
Cyp2c37 T A 19: 40,000,180 (GRCm39) I434K probably benign Het
Ddx43 T G 9: 78,303,389 (GRCm39) D76E probably benign Het
Dusp5 A G 19: 53,526,051 (GRCm39) E231G probably damaging Het
Fam114a1 G A 5: 65,166,394 (GRCm39) V242I probably damaging Het
Frem1 T A 4: 82,831,896 (GRCm39) R1973S probably benign Het
Gas2l3 A T 10: 89,266,774 (GRCm39) D55E probably damaging Het
Grwd1 T C 7: 45,477,303 (GRCm39) I195V probably benign Het
H2-M1 G T 17: 36,983,031 (GRCm39) T20K probably benign Het
H2-Q2 T G 17: 35,562,206 (GRCm39) L151R probably damaging Het
Hbegf T C 18: 36,640,643 (GRCm39) Y138C probably damaging Het
Hectd1 C A 12: 51,795,197 (GRCm39) E2411* probably null Het
Igkv11-125 T A 6: 67,890,783 (GRCm39) S34T possibly damaging Het
Jam2 A T 16: 84,609,960 (GRCm39) T191S probably benign Het
Kcnh8 T C 17: 53,185,089 (GRCm39) I457T probably damaging Het
Khk A G 5: 31,079,303 (GRCm39) D15G probably damaging Het
Lrba T A 3: 86,526,875 (GRCm39) Y2244* probably null Het
Lrp1b T C 2: 41,078,929 (GRCm39) N1841S Het
Lrp4 A G 2: 91,316,296 (GRCm39) T805A probably benign Het
Lrp6 C T 6: 134,441,414 (GRCm39) R1184Q probably damaging Het
Map3k1 A T 13: 111,900,699 (GRCm39) L442* probably null Het
Mapk8ip3 T C 17: 25,155,647 (GRCm39) N61S possibly damaging Het
Matcap2 A T 9: 22,351,228 (GRCm39) I457L possibly damaging Het
Mdn1 T A 4: 32,754,539 (GRCm39) V4685E probably damaging Het
Mib2 T C 4: 155,745,325 (GRCm39) E134G possibly damaging Het
Mtss2 T C 8: 111,464,575 (GRCm39) V403A probably benign Het
Ndst4 C A 3: 125,232,196 (GRCm39) T255K probably damaging Het
Or1i2 G C 10: 78,448,311 (GRCm39) L55V probably damaging Het
Or2l13 A T 16: 19,305,761 (GRCm39) M58L probably damaging Het
Or5ae2 G A 7: 84,506,114 (GRCm39) C181Y probably damaging Het
Or8g20 A G 9: 39,396,396 (GRCm39) L51P probably damaging Het
Rgl1 T C 1: 152,397,142 (GRCm39) T675A probably damaging Het
Rgs1 T C 1: 144,121,116 (GRCm39) D185G probably damaging Het
Rnase2a G A 14: 51,493,117 (GRCm39) R83C probably damaging Het
Sfmbt2 A G 2: 10,583,994 (GRCm39) T784A probably damaging Het
Slc6a21 A T 7: 44,937,189 (GRCm39) T272S Het
Sorcs2 G T 5: 36,222,765 (GRCm39) S330* probably null Het
Spdef G T 17: 27,936,183 (GRCm39) H253Q Het
Tas2r144 A G 6: 42,192,428 (GRCm39) E56G probably benign Het
Trim66 A G 7: 109,074,825 (GRCm39) C479R probably damaging Het
Ttc36 A T 9: 44,714,034 (GRCm39) L28Q probably benign Het
Ugt1a5 T C 1: 88,094,098 (GRCm39) S109P possibly damaging Het
Vamp5 G A 6: 72,347,276 (GRCm39) probably benign Het
Wwox A G 8: 115,166,540 (GRCm39) D10G possibly damaging Het
Zfp40 T C 17: 23,394,493 (GRCm39) Y698C probably damaging Het
Zfp62 A G 11: 49,106,458 (GRCm39) D183G probably benign Het
Zfp932 T C 5: 110,157,064 (GRCm39) V254A probably benign Het
Zfp943 T A 17: 22,209,899 (GRCm39) L57H 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
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
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'- GCAGACCTCTGAAGGAAGACAC -3'
(R):5'- AACATGCATCTTAGCGACCG -3'

Sequencing Primer
(F):5'- AGCTTGTGTAAATTTTGAGGGACCAG -3'
(R):5'- TTAGCGACCGTGCCATCAC -3'
Posted On 2022-09-12