Incidental Mutation 'R4179:Pak2'
ID 319660
Institutional Source Beutler Lab
Gene Symbol Pak2
Ensembl Gene ENSMUSG00000022781
Gene Name p21 (RAC1) activated kinase 2
Synonyms D16Ertd269e, PAK-2, 5330420P17Rik, A130002K10Rik
MMRRC Submission 041015-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4179 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 31835108-31898160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 31871005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 59 (G59A)
Ref Sequence ENSEMBL: ENSMUSP00000023467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023467]
AlphaFold Q8CIN4
Predicted Effect probably benign
Transcript: ENSMUST00000023467
AA Change: G59A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023467
Gene: ENSMUSG00000022781
AA Change: G59A

DomainStartEndE-ValueType
low complexity region 58 70 N/A INTRINSIC
PBD 74 109 4.83e-16 SMART
low complexity region 170 177 N/A INTRINSIC
low complexity region 212 226 N/A INTRINSIC
S_TKc 249 500 9.34e-97 SMART
Meta Mutation Damage Score 0.0712 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E8 and the postnatal period with prominent head folds, impaired somite development, and growth retardation. Mice homozygous for a knock-in allele exhibit increased cell proliferation and decreased apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,104,128 (GRCm39) M506V probably benign Het
Ano1 A T 7: 144,204,242 (GRCm39) M290K probably damaging Het
Arrdc2 A T 8: 71,289,821 (GRCm39) L34Q probably damaging Het
Cdadc1 G T 14: 59,829,935 (GRCm39) T77N probably benign Het
Cmtr2 C G 8: 110,947,669 (GRCm39) probably null Het
Cnot2 A T 10: 116,334,048 (GRCm39) V374E possibly damaging Het
Crnn T C 3: 93,054,120 (GRCm39) M1T probably null Het
Ctsb A G 14: 63,370,901 (GRCm39) N38D probably benign Het
Dock10 A C 1: 80,488,134 (GRCm39) S2010A probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Eci1 T C 17: 24,655,251 (GRCm39) W119R probably damaging Het
Foxo1 C A 3: 52,252,840 (GRCm39) D334E probably benign Het
Gck T C 11: 5,860,295 (GRCm39) T116A probably benign Het
Gcn1 T C 5: 115,726,109 (GRCm39) V588A probably benign Het
Gm7168 A G 17: 14,169,265 (GRCm39) I211V probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Jag1 A G 2: 136,943,578 (GRCm39) F206S probably damaging Het
Loxl3 G A 6: 83,014,565 (GRCm39) V158I probably benign Het
Ly6g A G 15: 75,027,567 (GRCm39) probably null Het
Myo1b A G 1: 51,817,685 (GRCm39) F532L probably damaging Het
Naip1 T A 13: 100,562,684 (GRCm39) N827I probably damaging Het
Nlrp9c G A 7: 26,084,086 (GRCm39) H498Y possibly damaging Het
Or10d1b A G 9: 39,613,387 (GRCm39) I226T probably benign Het
Pcdha2 T A 18: 37,074,529 (GRCm39) L720Q probably damaging Het
Pcdhb9 T A 18: 37,534,168 (GRCm39) M54K probably benign Het
Pde2a A G 7: 101,130,590 (GRCm39) *71W probably null Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Pkhd1l1 A C 15: 44,387,045 (GRCm39) Y1306S probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkd1 C A 12: 50,413,231 (GRCm39) G647C probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Qser1 A G 2: 104,606,729 (GRCm39) I1510T probably benign Het
Ranbp3l T C 15: 9,057,279 (GRCm39) I314T possibly damaging Het
Rgs9 C A 11: 109,172,274 (GRCm39) probably null Het
Riok1 T C 13: 38,232,931 (GRCm39) F216L probably damaging Het
Rrm1 T A 7: 102,106,405 (GRCm39) I308N probably damaging Het
Serpina1f A T 12: 103,658,179 (GRCm39) M242K probably benign Het
Smox G A 2: 131,366,770 (GRCm39) M576I possibly damaging Het
Spaca7 A T 8: 12,636,435 (GRCm39) N87I probably damaging Het
Spink5 A T 18: 44,120,934 (GRCm39) Q296L probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Sult2b1 T A 7: 45,384,735 (GRCm39) I114F probably damaging Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsen54 T C 11: 115,711,678 (GRCm39) V365A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp47 T C 7: 111,687,091 (GRCm39) L683P probably damaging Het
Wdr18 T C 10: 79,800,875 (GRCm39) L146P probably damaging Het
Zfp709 A G 8: 72,643,750 (GRCm39) Y392C probably damaging Het
Zranb3 A T 1: 127,888,601 (GRCm39) I828N possibly damaging Het
Other mutations in Pak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Pak2 APN 16 31,860,362 (GRCm39) missense probably benign 0.04
IGL01807:Pak2 APN 16 31,856,097 (GRCm39) missense probably damaging 0.99
IGL02296:Pak2 APN 16 31,862,820 (GRCm39) critical splice acceptor site probably null
IGL02828:Pak2 APN 16 31,840,674 (GRCm39) missense probably damaging 1.00
K7371:Pak2 UTSW 16 31,852,602 (GRCm39) splice site probably benign
PIT4142001:Pak2 UTSW 16 31,841,930 (GRCm39) missense probably damaging 1.00
R0077:Pak2 UTSW 16 31,852,661 (GRCm39) missense possibly damaging 0.93
R1569:Pak2 UTSW 16 31,856,113 (GRCm39) missense probably damaging 1.00
R4180:Pak2 UTSW 16 31,871,005 (GRCm39) missense probably benign 0.02
R4223:Pak2 UTSW 16 31,871,028 (GRCm39) missense probably benign
R5114:Pak2 UTSW 16 31,861,936 (GRCm39) intron probably benign
R5294:Pak2 UTSW 16 31,840,648 (GRCm39) missense probably damaging 0.99
R5340:Pak2 UTSW 16 31,853,764 (GRCm39) splice site probably null
R5342:Pak2 UTSW 16 31,863,306 (GRCm39) missense probably damaging 1.00
R5586:Pak2 UTSW 16 31,860,337 (GRCm39) missense probably benign 0.00
R7590:Pak2 UTSW 16 31,871,014 (GRCm39) missense probably benign 0.27
R7995:Pak2 UTSW 16 31,846,590 (GRCm39) missense possibly damaging 0.92
R8324:Pak2 UTSW 16 31,871,029 (GRCm39) missense probably benign 0.00
R8485:Pak2 UTSW 16 31,871,083 (GRCm39) missense probably benign 0.16
R8948:Pak2 UTSW 16 31,852,729 (GRCm39) splice site probably benign
R9723:Pak2 UTSW 16 31,852,650 (GRCm39) missense probably damaging 0.99
Z1177:Pak2 UTSW 16 31,863,396 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CAGAGCCTATTATCAGCATCAAGTG -3'
(R):5'- CATGTCTGATAACGGAGAGCTAG -3'

Sequencing Primer
(F):5'- CCAGCATGTATGTATGTGCACCAG -3'
(R):5'- TGTCTGATAACGGAGAGCTAGAAGAC -3'
Posted On 2015-06-10