Incidental Mutation 'R3108:Pak4'
ID 263659
Institutional Source Beutler Lab
Gene Symbol Pak4
Ensembl Gene ENSMUSG00000030602
Gene Name p21 (RAC1) activated kinase 4
Synonyms 5730488L07Rik
MMRRC Submission 040582-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3108 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 28258244-28297609 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 28263769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 322 (Y322*)
Ref Sequence ENSEMBL: ENSMUSP00000103918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032823] [ENSMUST00000040531] [ENSMUST00000108283]
AlphaFold Q8BTW9
Predicted Effect probably null
Transcript: ENSMUST00000032823
AA Change: Y322*
SMART Domains Protein: ENSMUSP00000032823
Gene: ENSMUSG00000030602
AA Change: Y322*

DomainStartEndE-ValueType
PBD 11 46 4.07e-14 SMART
low complexity region 238 258 N/A INTRINSIC
low complexity region 267 300 N/A INTRINSIC
S_TKc 323 574 1.21e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040531
SMART Domains Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336

DomainStartEndE-ValueType
low complexity region 81 90 N/A INTRINSIC
low complexity region 174 190 N/A INTRINSIC
low complexity region 200 211 N/A INTRINSIC
low complexity region 278 290 N/A INTRINSIC
SAM 296 359 1.02e-9 SMART
low complexity region 406 420 N/A INTRINSIC
low complexity region 433 461 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108283
AA Change: Y322*
SMART Domains Protein: ENSMUSP00000103918
Gene: ENSMUSG00000030602
AA Change: Y322*

DomainStartEndE-ValueType
PBD 11 46 4.07e-14 SMART
low complexity region 238 258 N/A INTRINSIC
low complexity region 267 300 N/A INTRINSIC
S_TKc 323 574 1.21e-90 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183983
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die at midgestation exhibiting heart defects as well as impaired neuronal development and yolk sac vasculature. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 C T 7: 78,973,333 (GRCm39) S104L probably benign Het
Adcy1 A G 11: 7,119,453 (GRCm39) Y1032C probably damaging Het
Ap4e1 T C 2: 126,898,226 (GRCm39) probably null Het
Ccnb1 C T 13: 100,918,132 (GRCm39) probably null Het
Cfap54 T C 10: 92,830,545 (GRCm39) N1197S probably benign Het
Cnot1 A G 8: 96,462,377 (GRCm39) V1691A probably damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dennd4a A G 9: 64,819,669 (GRCm39) K1760R probably benign Het
Drd4 T A 7: 140,872,195 (GRCm39) V82E possibly damaging Het
Dtx2 G A 5: 136,050,670 (GRCm39) V323M probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 G A 8: 45,498,210 (GRCm39) probably null Het
Igkv11-125 T C 6: 67,890,855 (GRCm39) F58L possibly damaging Het
Mrgprb1 A G 7: 48,097,076 (GRCm39) S279P possibly damaging Het
Muc5b C T 7: 141,412,496 (GRCm39) T1814M unknown Het
Nkpd1 G A 7: 19,256,903 (GRCm39) M227I probably damaging Het
Ntrk3 C T 7: 78,110,263 (GRCm39) V324M probably benign Het
Nup155 C A 15: 8,146,790 (GRCm39) T210K probably null Het
Or52s1b T A 7: 102,822,293 (GRCm39) M184L probably damaging Het
Or9s18 T C 13: 65,300,875 (GRCm39) V279A possibly damaging Het
Raph1 G A 1: 60,532,545 (GRCm39) A696V probably benign Het
Satb1 A T 17: 52,089,810 (GRCm39) Y346N possibly damaging Het
Serpina1a A T 12: 103,820,100 (GRCm39) I382N probably damaging Het
Slc34a3 G T 2: 25,119,257 (GRCm39) Q538K probably benign Het
Slf1 C T 13: 77,274,840 (GRCm39) probably benign Het
Ston1 G T 17: 88,943,583 (GRCm39) E330* probably null Het
Trhde C T 10: 114,427,971 (GRCm39) E442K probably damaging Het
Unc45a A G 7: 79,981,294 (GRCm39) probably benign Het
Zfp169 A G 13: 48,643,472 (GRCm39) S552P possibly damaging Het
Zfp229 T A 17: 21,965,797 (GRCm39) C676S probably damaging Het
Other mutations in Pak4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0025:Pak4 UTSW 7 28,263,708 (GRCm39) missense probably damaging 1.00
R0531:Pak4 UTSW 7 28,267,479 (GRCm39) missense possibly damaging 0.69
R0893:Pak4 UTSW 7 28,259,202 (GRCm39) missense probably benign 0.21
R1108:Pak4 UTSW 7 28,259,667 (GRCm39) missense probably damaging 1.00
R1801:Pak4 UTSW 7 28,264,615 (GRCm39) missense probably damaging 1.00
R1844:Pak4 UTSW 7 28,264,690 (GRCm39) missense possibly damaging 0.88
R4693:Pak4 UTSW 7 28,263,674 (GRCm39) missense probably damaging 1.00
R5320:Pak4 UTSW 7 28,267,631 (GRCm39) missense probably damaging 0.98
R5357:Pak4 UTSW 7 28,263,831 (GRCm39) missense probably damaging 0.99
R5724:Pak4 UTSW 7 28,264,005 (GRCm39) missense possibly damaging 0.94
R6047:Pak4 UTSW 7 28,262,461 (GRCm39) missense probably benign 0.34
R6161:Pak4 UTSW 7 28,264,692 (GRCm39) missense possibly damaging 0.95
R6241:Pak4 UTSW 7 28,264,690 (GRCm39) missense possibly damaging 0.88
R6820:Pak4 UTSW 7 28,262,461 (GRCm39) missense probably benign 0.34
R7262:Pak4 UTSW 7 28,264,625 (GRCm39) missense possibly damaging 0.60
R7338:Pak4 UTSW 7 28,264,381 (GRCm39) missense probably benign 0.37
R7681:Pak4 UTSW 7 28,259,655 (GRCm39) missense probably damaging 1.00
R8709:Pak4 UTSW 7 28,261,969 (GRCm39) missense probably benign 0.02
R9038:Pak4 UTSW 7 28,264,263 (GRCm39) missense probably damaging 1.00
R9369:Pak4 UTSW 7 28,260,240 (GRCm39) missense probably damaging 0.99
Z1088:Pak4 UTSW 7 28,264,653 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCATGGGCACTTGGGATGAC -3'
(R):5'- CATACCATGGCCCCTAATGG -3'

Sequencing Primer
(F):5'- ACAGGCAGGAGTCTTAGCC -3'
(R):5'- AGGAGTTCTGGGTCCCCATG -3'
Posted On 2015-02-05