Incidental Mutation 'IGL01807:Pak2'
ID 155717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pak2
Ensembl Gene ENSMUSG00000022781
Gene Name p21 (RAC1) activated kinase 2
Synonyms D16Ertd269e, PAK-2, 5330420P17Rik, A130002K10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01807
Quality Score
Status
Chromosome 16
Chromosomal Location 31835108-31898160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31856097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 247 (K247E)
Ref Sequence ENSEMBL: ENSMUSP00000023467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023467]
AlphaFold Q8CIN4
Predicted Effect probably damaging
Transcript: ENSMUST00000023467
AA Change: K247E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023467
Gene: ENSMUSG00000022781
AA Change: K247E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125019
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,551,640 (GRCm39) L1223M probably damaging Het
Ano7 A G 1: 93,330,418 (GRCm39) E814G possibly damaging Het
Atf1 T C 15: 100,149,945 (GRCm39) probably benign Het
Bco2 T C 9: 50,457,158 (GRCm39) probably benign Het
Birc6 A G 17: 74,938,032 (GRCm39) I2625V probably benign Het
Bub1 A G 2: 127,654,897 (GRCm39) S545P probably benign Het
Cacna1i T A 15: 80,258,348 (GRCm39) I1173N probably damaging Het
Ccdc175 T C 12: 72,206,616 (GRCm39) E210G probably benign Het
Ccl2 G A 11: 81,926,513 (GRCm39) G9D possibly damaging Het
Chmp2b T A 16: 65,337,091 (GRCm39) T189S probably benign Het
Col4a1 A T 8: 11,297,056 (GRCm39) probably benign Het
Ecm1 A G 3: 95,643,891 (GRCm39) S236P probably damaging Het
Epha8 A G 4: 136,658,993 (GRCm39) V887A probably benign Het
Fam227a T C 15: 79,533,856 (GRCm39) M36V probably benign Het
Fbxo15 T A 18: 84,999,506 (GRCm39) probably benign Het
Mtmr4 A G 11: 87,494,976 (GRCm39) I423V possibly damaging Het
Ngly1 C T 14: 16,290,873 (GRCm38) L452F probably benign Het
Or52u1 T A 7: 104,237,091 (GRCm39) W27R probably damaging Het
Or5ac15 T C 16: 58,939,936 (GRCm39) T166A possibly damaging Het
Pola2 A G 19: 6,003,187 (GRCm39) probably benign Het
Ppp1r9a C T 6: 5,158,248 (GRCm39) Q1219* probably null Het
Rasgrf1 T C 9: 89,873,566 (GRCm39) I625T probably damaging Het
Rpap1 T C 2: 119,613,189 (GRCm39) T120A possibly damaging Het
Scin T C 12: 40,134,288 (GRCm39) Y252C probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smc1b T A 15: 84,980,946 (GRCm39) D774V probably damaging Het
Uba6 C T 5: 86,270,270 (GRCm39) R838Q probably damaging Het
Ulk4 A G 9: 121,084,251 (GRCm39) S105P probably damaging Het
Vwa3a G A 7: 120,374,729 (GRCm39) probably null Het
Xirp2 A G 2: 67,345,375 (GRCm39) T2539A probably benign Het
Zfpm2 T C 15: 40,616,452 (GRCm39) probably null Het
Other mutations in Pak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Pak2 APN 16 31,860,362 (GRCm39) missense probably benign 0.04
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
R4179:Pak2 UTSW 16 31,871,005 (GRCm39) missense probably benign 0.02
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
Posted On 2014-02-04