Incidental Mutation 'IGL00508:Pak1'
ID5203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pak1
Ensembl Gene ENSMUSG00000030774
Gene Namep21 (RAC1) activated kinase 1
SynonymsPaka, PAK-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00508
Quality Score
Status
Chromosome7
Chromosomal Location97788541-97912381 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 97854568 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 37 (G37C)
Ref Sequence ENSEMBL: ENSMUSP00000138684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033040] [ENSMUST00000156637] [ENSMUST00000206351] [ENSMUST00000206984]
Predicted Effect probably benign
Transcript: ENSMUST00000033040
AA Change: G37C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: G37C

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
AA Change: G37C

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774
AA Change: G37C

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
PBD 75 110 3.92e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205757
Predicted Effect probably benign
Transcript: ENSMUST00000206351
AA Change: G37C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000206984
AA Change: G37C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,506,187 D2188E probably damaging Het
Atrx A G X: 105,823,799 S2026P probably damaging Het
Cacna1b A C 2: 24,657,289 probably null Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Cfap57 C T 4: 118,581,170 probably null Het
Ckap5 T G 2: 91,606,256 V1567G probably damaging Het
Cyp2c38 A T 19: 39,460,725 Y61* probably null Het
D130052B06Rik A G 11: 33,599,402 E7G unknown Het
Dhx38 A G 8: 109,556,934 L527P possibly damaging Het
Dnaaf5 A G 5: 139,177,946 N653D probably benign Het
Dnah8 T G 17: 30,855,930 M4541R probably damaging Het
Dpyd A T 3: 119,064,987 T617S probably benign Het
Fpr2 A T 17: 17,892,772 N10I probably damaging Het
Frmd4a A T 2: 4,594,734 K524* probably null Het
Gpr45 C T 1: 43,032,292 P32S possibly damaging Het
H2-Eb2 A T 17: 34,334,367 I176F probably damaging Het
Hcrtr1 T A 4: 130,137,269 N74I probably damaging Het
Ifi47 C T 11: 49,095,414 Q3* probably null Het
Krt8 T A 15: 101,998,025 M350L probably benign Het
Lilra6 A G 7: 3,911,554 S533P probably benign Het
Map1b A T 13: 99,429,233 S2327T unknown Het
Mcoln3 T A 3: 146,133,928 I345N probably damaging Het
Mettl3 C A 14: 52,294,979 probably benign Het
Mgat4a G A 1: 37,449,123 R472* probably null Het
Micall1 A G 15: 79,130,568 K715E probably damaging Het
Pomt2 T G 12: 87,119,627 H426P probably damaging Het
Pou2f3 G A 9: 43,139,963 P155S probably benign Het
Psg25 A G 7: 18,529,731 Y56H probably benign Het
Rab9 G T X: 166,457,864 Y150* probably null Het
Rhox2g T A X: 37,642,810 N152I probably damaging Het
Sema6d T C 2: 124,656,924 probably benign Het
Simc1 C A 13: 54,525,176 Q446K probably benign Het
Svs2 G T 2: 164,237,042 T315K possibly damaging Het
Syt9 C T 7: 107,425,367 R156* probably null Het
Tmem260 A T 14: 48,509,121 Y618F probably damaging Het
Wdr44 A G X: 23,800,544 I719V possibly damaging Het
Zfp518a T G 19: 40,913,470 I614M probably damaging Het
Other mutations in Pak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01676:Pak1 APN 7 97883531 missense probably benign 0.00
IGL02058:Pak1 APN 7 97911115 missense probably damaging 1.00
IGL02557:Pak1 APN 7 97871587 missense probably benign 0.08
IGL02678:Pak1 APN 7 97894002 missense probably damaging 0.99
R1739:Pak1 UTSW 7 97904695 missense probably damaging 1.00
R1874:Pak1 UTSW 7 97871580 missense probably benign 0.23
R2057:Pak1 UTSW 7 97907797 splice site probably null
R2363:Pak1 UTSW 7 97886314 missense probably benign 0.01
R2420:Pak1 UTSW 7 97854479 missense probably benign 0.02
R2880:Pak1 UTSW 7 97904811 missense probably damaging 1.00
R3113:Pak1 UTSW 7 97866114 nonsense probably null
R3722:Pak1 UTSW 7 97854497 missense probably damaging 1.00
R4363:Pak1 UTSW 7 97883586 missense possibly damaging 0.49
R6021:Pak1 UTSW 7 97854463 missense probably damaging 1.00
R6459:Pak1 UTSW 7 97907881 missense probably benign 0.04
R6820:Pak1 UTSW 7 97886379 missense probably benign
R7336:Pak1 UTSW 7 97888972 missense probably benign 0.13
X0027:Pak1 UTSW 7 97904752 missense probably damaging 0.99
Posted On2012-04-20