Incidental Mutation 'R4179:Pak2'
Institutional Source Beutler Lab
Gene Symbol Pak2
Ensembl Gene ENSMUSG00000022781
Gene Namep21 (RAC1) activated kinase 2
SynonymsA130002K10Rik, PAK-2, 5330420P17Rik, D16Ertd269e
MMRRC Submission 041015-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4179 (G1)
Quality Score225
Status Not validated
Chromosomal Location32016290-32079342 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 32052187 bp
Amino Acid Change Glycine to Alanine at position 59 (G59A)
Ref Sequence ENSEMBL: ENSMUSP00000023467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023467]
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

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: 43,651,091 M506V probably benign Het
Ano1 A T 7: 144,650,505 M290K probably damaging Het
Arrdc2 A T 8: 70,837,177 L34Q probably damaging Het
Cdadc1 G T 14: 59,592,486 T77N probably benign Het
Cmtr2 C G 8: 110,221,037 probably null Het
Cnot2 A T 10: 116,498,143 V374E possibly damaging Het
Crnn T C 3: 93,146,813 M1T probably null Het
Ctsb A G 14: 63,133,452 N38D probably benign Het
Dock10 A C 1: 80,510,417 S2010A probably benign Het
Dqx1 A G 6: 83,059,479 T155A probably benign Het
Dysf G A 6: 84,186,509 probably null Het
Eci1 T C 17: 24,436,277 W119R probably damaging Het
Foxo1 C A 3: 52,345,419 D334E probably benign Het
Gck T C 11: 5,910,295 T116A probably benign Het
Gcn1l1 T C 5: 115,588,050 V588A probably benign Het
Gm7168 A G 17: 13,949,003 I211V probably benign Het
Idh3g A T X: 73,782,004 probably null Het
Jag1 A G 2: 137,101,658 F206S probably damaging Het
Loxl3 G A 6: 83,037,584 V158I probably benign Het
Ly6g A G 15: 75,155,718 probably null Het
Myo1b A G 1: 51,778,526 F532L probably damaging Het
Naip1 T A 13: 100,426,176 N827I probably damaging Het
Nlrp9c G A 7: 26,384,661 H498Y possibly damaging Het
Olfr149 A G 9: 39,702,091 I226T probably benign Het
Pcdha2 T A 18: 36,941,476 L720Q probably damaging Het
Pcdhb9 T A 18: 37,401,115 M54K probably benign Het
Pde2a A G 7: 101,481,383 *71W probably null Het
Pkd2l1 T C 19: 44,192,181 N32D probably benign Het
Pkhd1l1 A C 15: 44,523,649 Y1306S probably benign Het
Plec T C 15: 76,180,215 K1953R possibly damaging Het
Plekhg4 T A 8: 105,381,398 V1029E possibly damaging Het
Prkd1 C A 12: 50,366,448 G647C probably damaging Het
Ptch1 C T 13: 63,534,329 R537H probably damaging Het
Qser1 A G 2: 104,776,384 I1510T probably benign Het
Ranbp3l T C 15: 9,057,198 I314T possibly damaging Het
Rgs9 C A 11: 109,281,448 probably null Het
Riok1 T C 13: 38,048,955 F216L probably damaging Het
Rrm1 T A 7: 102,457,198 I308N probably damaging Het
Serpina1f A T 12: 103,691,920 M242K probably benign Het
Smox G A 2: 131,524,850 M576I possibly damaging Het
Spaca7 A T 8: 12,586,435 N87I probably damaging Het
Spink5 A T 18: 43,987,867 Q296L probably benign Het
Sspo T C 6: 48,498,395 probably null Het
Sult2b1 T A 7: 45,735,311 I114F probably damaging Het
Tex12 T C 9: 50,559,287 probably null Het
Tonsl A G 15: 76,624,475 L26P probably damaging Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Tsen54 T C 11: 115,820,852 V365A probably damaging Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Usp47 T C 7: 112,087,884 L683P probably damaging Het
Wdr18 T C 10: 79,965,041 L146P probably damaging Het
Zfp709 A G 8: 71,889,906 Y392C probably damaging Het
Zranb3 A T 1: 127,960,864 I828N possibly damaging Het
Other mutations in Pak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Pak2 APN 16 32041544 missense probably benign 0.04
IGL01807:Pak2 APN 16 32037279 missense probably damaging 0.99
IGL02296:Pak2 APN 16 32044002 critical splice acceptor site probably null
IGL02828:Pak2 APN 16 32021856 missense probably damaging 1.00
K7371:Pak2 UTSW 16 32033784 splice site probably benign
PIT4142001:Pak2 UTSW 16 32023112 missense probably damaging 1.00
R0077:Pak2 UTSW 16 32033843 missense possibly damaging 0.93
R1569:Pak2 UTSW 16 32037295 missense probably damaging 1.00
R4180:Pak2 UTSW 16 32052187 missense probably benign 0.02
R4223:Pak2 UTSW 16 32052210 missense probably benign
R5114:Pak2 UTSW 16 32043118 intron probably benign
R5294:Pak2 UTSW 16 32021830 missense probably damaging 0.99
R5340:Pak2 UTSW 16 32034946 splice site probably null
R5342:Pak2 UTSW 16 32044488 missense probably damaging 1.00
R5586:Pak2 UTSW 16 32041519 missense probably benign 0.00
R7590:Pak2 UTSW 16 32052196 missense probably benign 0.27
R7995:Pak2 UTSW 16 32027772 missense possibly damaging 0.92
R8324:Pak2 UTSW 16 32052211 missense probably benign 0.00
R8485:Pak2 UTSW 16 32052265 missense probably benign 0.16
Z1177:Pak2 UTSW 16 32044578 missense probably benign 0.08
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-06-10