Incidental Mutation 'R5206:Pak6'
ID 402019
Institutional Source Beutler Lab
Gene Symbol Pak6
Ensembl Gene ENSMUSG00000074923
Gene Name p21 (RAC1) activated kinase 6
Synonyms
MMRRC Submission 042781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5206 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 118493784-118528501 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118523784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 313 (E313G)
Ref Sequence ENSEMBL: ENSMUSP00000106477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099557] [ENSMUST00000110853]
AlphaFold Q3ULB5
Predicted Effect probably benign
Transcript: ENSMUST00000099557
AA Change: E313G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097153
Gene: ENSMUSG00000074923
AA Change: E313G

DomainStartEndE-ValueType
PBD 12 47 4.47e-11 SMART
S_TKc 408 659 2.38e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110853
AA Change: E313G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106477
Gene: ENSMUSG00000074923
AA Change: E313G

DomainStartEndE-ValueType
PBD 12 47 4.47e-11 SMART
S_TKc 408 659 2.38e-89 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132577
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele do not exhibit any abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,272 (GRCm39) E487G probably benign Het
2610021A01Rik A T 7: 41,276,009 (GRCm39) K571* probably null Het
A2m T C 6: 121,651,766 (GRCm39) V1278A probably damaging Het
Abcc2 T C 19: 43,806,589 (GRCm39) V801A probably damaging Het
Acod1 T A 14: 103,292,731 (GRCm39) D418E possibly damaging Het
Bsn G A 9: 107,982,572 (GRCm39) A3727V unknown Het
Cmah T G 13: 24,648,267 (GRCm39) F501V probably damaging Het
Csf2rb2 T A 15: 78,176,952 (GRCm39) I173L probably benign Het
Dnah12 T C 14: 26,491,942 (GRCm39) W1126R probably damaging Het
Dock5 G T 14: 68,000,633 (GRCm39) A1690E probably benign Het
Dop1b T C 16: 93,598,472 (GRCm39) L1879P probably damaging Het
Eif3j2 A T 18: 43,610,647 (GRCm39) D55E probably benign Het
Fam83f G A 15: 80,576,255 (GRCm39) G302D possibly damaging Het
Fus G A 7: 127,568,969 (GRCm39) G40D unknown Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Gxylt2 T C 6: 100,781,576 (GRCm39) V417A probably damaging Het
Hhipl1 G A 12: 108,278,437 (GRCm39) R255H probably damaging Het
Ints8 A T 4: 11,216,477 (GRCm39) I838N possibly damaging Het
Lama5 C A 2: 179,833,097 (GRCm39) C1579F probably damaging Het
Med13 C T 11: 86,210,705 (GRCm39) R479H probably damaging Het
Or51ag1 A T 7: 103,155,309 (GRCm39) Y281* probably null Het
Or5b113 G T 19: 13,342,429 (GRCm39) G146C possibly damaging Het
Or5k15 G T 16: 58,710,381 (GRCm39) N67K probably damaging Het
Or6e1 T A 14: 54,520,155 (GRCm39) M66L probably benign Het
Or9g3 T A 2: 85,589,967 (GRCm39) Y251F probably benign Het
Pigs T A 11: 78,224,549 (GRCm39) Y145N probably damaging Het
Pla2g2f T A 4: 138,479,662 (GRCm39) D165V probably benign Het
Plbd1 C T 6: 136,618,154 (GRCm39) V133M probably benign Het
Ppp1r14bl C T 1: 23,141,183 (GRCm39) G44R probably benign Het
Ryr3 T C 2: 112,675,056 (GRCm39) Y1352C probably damaging Het
Scamp1 C T 13: 94,368,615 (GRCm39) R51H probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc2a2 G A 3: 28,762,756 (GRCm39) V100M probably damaging Het
Slc38a10 C G 11: 119,995,888 (GRCm39) A1062P probably damaging Het
Snai1 T C 2: 167,380,888 (GRCm39) I127T probably benign Het
Stat4 G A 1: 52,144,395 (GRCm39) G692D probably damaging Het
Stc1 A T 14: 69,269,048 (GRCm39) D72V probably damaging Het
Tmc1 T C 19: 20,804,024 (GRCm39) N351S probably damaging Het
Trim28 A G 7: 12,759,275 (GRCm39) I130V probably benign Het
Trim39 A G 17: 36,571,382 (GRCm39) Y459H probably damaging Het
Ugt1a6b C A 1: 88,035,170 (GRCm39) Y169* probably null Het
Vasp T C 7: 18,992,780 (GRCm39) probably benign Het
Vmn2r99 G T 17: 19,598,868 (GRCm39) G184V probably benign Het
Xrcc1 C T 7: 24,266,988 (GRCm39) T358I probably damaging Het
Zfp219 A G 14: 52,247,022 (GRCm39) V35A probably benign Het
Other mutations in Pak6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Pak6 APN 2 118,520,326 (GRCm39) missense possibly damaging 0.58
IGL00979:Pak6 APN 2 118,526,963 (GRCm39) missense probably damaging 1.00
IGL01577:Pak6 APN 2 118,524,129 (GRCm39) missense probably benign 0.00
IGL01928:Pak6 APN 2 118,520,345 (GRCm39) missense probably damaging 1.00
IGL01951:Pak6 APN 2 118,523,741 (GRCm39) missense probably benign
IGL02387:Pak6 APN 2 118,523,714 (GRCm39) missense probably benign
IGL03302:Pak6 APN 2 118,523,784 (GRCm39) missense probably benign
bedamned UTSW 2 118,524,488 (GRCm39) splice site probably benign
bequeathed UTSW 2 118,524,003 (GRCm39) missense probably damaging 0.96
R0126:Pak6 UTSW 2 118,520,813 (GRCm39) missense possibly damaging 0.86
R0883:Pak6 UTSW 2 118,524,168 (GRCm39) missense probably damaging 1.00
R1128:Pak6 UTSW 2 118,526,990 (GRCm39) missense probably benign 0.00
R2073:Pak6 UTSW 2 118,519,332 (GRCm39) missense probably damaging 1.00
R2508:Pak6 UTSW 2 118,525,050 (GRCm39) nonsense probably null
R2920:Pak6 UTSW 2 118,524,488 (GRCm39) splice site probably benign
R3118:Pak6 UTSW 2 118,520,222 (GRCm39) missense probably damaging 1.00
R3689:Pak6 UTSW 2 118,523,921 (GRCm39) nonsense probably null
R3762:Pak6 UTSW 2 118,526,958 (GRCm39) missense probably damaging 0.99
R4589:Pak6 UTSW 2 118,527,021 (GRCm39) missense probably damaging 1.00
R4976:Pak6 UTSW 2 118,525,029 (GRCm39) missense probably damaging 1.00
R5119:Pak6 UTSW 2 118,525,029 (GRCm39) missense probably damaging 1.00
R5683:Pak6 UTSW 2 118,524,393 (GRCm39) missense probably damaging 1.00
R7232:Pak6 UTSW 2 118,524,003 (GRCm39) missense probably damaging 0.96
R7236:Pak6 UTSW 2 118,523,909 (GRCm39) missense probably benign 0.26
R7292:Pak6 UTSW 2 118,524,072 (GRCm39) missense possibly damaging 0.95
R7623:Pak6 UTSW 2 118,525,068 (GRCm39) missense probably damaging 1.00
R7823:Pak6 UTSW 2 118,525,793 (GRCm39) missense probably benign 0.02
R8190:Pak6 UTSW 2 118,520,578 (GRCm39) nonsense probably null
R8374:Pak6 UTSW 2 118,524,477 (GRCm39) missense probably benign 0.02
R8515:Pak6 UTSW 2 118,520,478 (GRCm39) missense probably benign 0.10
R9290:Pak6 UTSW 2 118,523,883 (GRCm39) missense probably damaging 1.00
R9689:Pak6 UTSW 2 118,520,243 (GRCm39) missense probably benign
R9768:Pak6 UTSW 2 118,520,396 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATTTAATCTGAAGTCCTGGGTGG -3'
(R):5'- TCACAATGCCCGTGTCTTCG -3'

Sequencing Primer
(F):5'- TGGCCCTGCTAGTGTCCAG -3'
(R):5'- TGTCTTCGCCACCCAGG -3'
Posted On 2016-07-22