Incidental Mutation 'R6459:Pak1'
ID 517516
Institutional Source Beutler Lab
Gene Symbol Pak1
Ensembl Gene ENSMUSG00000030774
Gene Name p21 (RAC1) activated kinase 1
Synonyms Paka, PAK-1
MMRRC Submission 044594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6459 (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 97557088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 495 (D495G)
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: D495G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: D495G

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: D495G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207017
Meta Mutation Damage Score 0.7506 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr C A 11: 76,315,815 (GRCm39) R583L probably damaging Het
Acss1 A G 2: 150,509,840 (GRCm39) I93T probably damaging Het
Ank3 C T 10: 69,827,577 (GRCm39) probably benign Het
Aoah A G 13: 21,184,112 (GRCm39) Y392C probably damaging Het
Atl3 A T 19: 7,498,163 (GRCm39) E186D probably benign Het
Atp4a A G 7: 30,411,887 (GRCm39) K41E probably benign Het
Atp9a G A 2: 168,509,933 (GRCm39) P500L probably damaging Het
Ccdc88b A T 19: 6,832,246 (GRCm39) V363D possibly damaging Het
Cftr T C 6: 18,258,235 (GRCm39) V532A probably damaging Het
Cldn13 T C 5: 134,943,769 (GRCm39) T139A possibly damaging Het
Cnksr3 T C 10: 7,076,820 (GRCm39) Y124C probably benign Het
Cyb5r2 T C 7: 107,352,462 (GRCm39) K161E possibly damaging Het
Epop T C 11: 97,519,333 (GRCm39) S259G possibly damaging Het
Fhl2 G A 1: 43,162,813 (GRCm39) T234I possibly damaging Het
Fnip2 T C 3: 79,388,941 (GRCm39) T567A possibly damaging Het
Frmd4b A G 6: 97,464,601 (GRCm39) C39R probably damaging Het
Grhl3 T C 4: 135,284,744 (GRCm39) N116S possibly damaging Het
Igkv14-111 A T 6: 68,233,725 (GRCm39) R75S probably benign Het
Il16 A T 7: 83,371,529 (GRCm39) D92E probably damaging Het
Il16 C A 7: 83,371,536 (GRCm39) G90V probably damaging Het
Ipo11 T C 13: 107,002,277 (GRCm39) probably null Het
Kng2 A G 16: 22,830,865 (GRCm39) I148T probably damaging Het
Lrrc41 T C 4: 115,945,977 (GRCm39) S231P possibly damaging Het
Maneal C T 4: 124,750,635 (GRCm39) V374I possibly damaging Het
Mgat4c T A 10: 102,220,988 (GRCm39) L90Q probably damaging Het
Mrps28 A G 3: 8,965,040 (GRCm39) probably null Het
Ncapd3 A G 9: 26,963,051 (GRCm39) D452G probably benign Het
Nefh T C 11: 4,889,551 (GRCm39) T1023A unknown Het
Nipa1 A G 7: 55,629,354 (GRCm39) V253A probably benign Het
Or5ac17 C T 16: 59,036,383 (GRCm39) V198M probably benign Het
Or5b97 G T 19: 12,878,369 (GRCm39) F258L possibly damaging Het
Or5m11 G T 2: 85,781,862 (GRCm39) G152C probably damaging Het
Or8d23 A G 9: 38,841,961 (GRCm39) S165G probably benign Het
Or8k41 T A 2: 86,313,573 (GRCm39) H171L probably benign Het
Pcm1 G A 8: 41,714,073 (GRCm39) R213H probably damaging Het
Prg4 T C 1: 150,330,052 (GRCm39) probably benign Het
Proser1 C T 3: 53,385,750 (GRCm39) T544M possibly damaging Het
Rftn1 T C 17: 50,354,334 (GRCm39) M343V probably benign Het
Ryr1 T C 7: 28,715,079 (GRCm39) I4656V probably benign Het
Scg2 T A 1: 79,414,007 (GRCm39) N239Y probably damaging Het
Sec16a C A 2: 26,313,512 (GRCm39) M1949I probably benign Het
Sipa1l2 A G 8: 126,171,223 (GRCm39) probably null Het
Slc10a2 A C 8: 5,148,581 (GRCm39) probably null Het
Slc25a16 C T 10: 62,773,256 (GRCm39) Q164* probably null Het
Specc1l T C 10: 75,082,001 (GRCm39) Y483H probably damaging Het
Ston1 T C 17: 88,943,896 (GRCm39) V434A probably benign Het
Tarbp2 A G 15: 102,426,914 (GRCm39) probably benign Het
Trappc8 C T 18: 20,969,925 (GRCm39) V1022M probably benign Het
Tsen54 T C 11: 115,712,506 (GRCm39) V269A probably damaging Het
Vps13a A T 19: 16,641,382 (GRCm39) M78K possibly damaging Het
Vwa5b2 A G 16: 20,413,429 (GRCm39) T215A probably damaging Het
Zc3h7a A G 16: 10,971,025 (GRCm39) Y335H probably damaging Het
Zfp994 T A 17: 22,419,527 (GRCm39) Q474L possibly 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
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'- GGTTAGTATGTTCTCTTCAGGACAT -3'
(R):5'- CCCAAGAGTGACAGGGAGCT -3'

Sequencing Primer
(F):5'- GACATCCCCGCTGATCAGAG -3'
(R):5'- TGACAGGGAGCTAGAAATACAAAGTG -3'
Posted On 2018-05-21