Incidental Mutation 'IGL02648:Pard6b'
ID302030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pard6b
Ensembl Gene ENSMUSG00000044641
Gene Namepar-6 family cell polarity regulator beta
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.347) question?
Stock #IGL02648
Quality Score
Status
Chromosome2
Chromosomal Location168081004-168101203 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 168098927 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 278 (Q278R)
Ref Sequence ENSEMBL: ENSMUSP00000052619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052125]
PDB Structure
Structure of Cdc42 in a complex with the GTPase-binding domain of the cell polarity protein, Par6 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000052125
AA Change: Q278R

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052619
Gene: ENSMUSG00000044641
AA Change: Q278R

DomainStartEndE-ValueType
PB1 16 96 3.88e-18 SMART
PDZ 167 250 7.48e-14 SMART
low complexity region 287 301 N/A INTRINSIC
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 is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,617,822 probably null Het
Acp4 A G 7: 44,254,990 probably benign Het
Adgrv1 A T 13: 81,511,619 M1997K probably benign Het
Arhgdib T C 6: 136,933,649 D38G probably damaging Het
Bbox1 T G 2: 110,305,526 D36A probably damaging Het
Cacna1c T C 6: 118,757,496 K104R probably damaging Het
Cacna1i G A 15: 80,298,638 C75Y probably damaging Het
Ccdc14 T C 16: 34,697,158 L70S probably damaging Het
Ccdc88a T G 11: 29,501,051 V1580G probably benign Het
Cdadc1 C A 14: 59,586,363 D227Y probably damaging Het
Chd3 T C 11: 69,352,150 Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 N493S probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Gm10549 C A 18: 33,464,250 probably benign Het
Gm17677 A T 9: 35,741,109 M21L probably benign Het
Greb1 C T 12: 16,708,682 V678M probably damaging Het
Gucy2c G A 6: 136,729,213 R497* probably null Het
Itgad T C 7: 128,183,374 probably benign Het
Lgr4 C A 2: 110,012,373 T877K probably damaging Het
Lrig3 A G 10: 125,966,594 D40G probably benign Het
Myo3b T C 2: 70,105,372 probably benign Het
Neb A G 2: 52,271,081 Y2193H possibly damaging Het
Olfr1270 T A 2: 90,149,353 I218F possibly damaging Het
Olfr918 T C 9: 38,673,016 M143V probably benign Het
Pkd2l1 T C 19: 44,155,536 Y366C possibly damaging Het
Prl2c1 A G 13: 27,857,559 D188G probably benign Het
Prl3a1 G T 13: 27,270,235 M65I probably benign Het
Psg26 T A 7: 18,482,766 E49D probably benign Het
Rapgef3 G A 15: 97,758,392 R38W probably damaging Het
Rrn3 T C 16: 13,811,589 F590L probably benign Het
Serpina12 T C 12: 104,038,008 K122E probably benign Het
Slc39a6 T C 18: 24,582,367 I699V probably damaging Het
Tmem259 G A 10: 79,977,817 P443S probably damaging Het
Vmn1r75 T A 7: 11,881,164 F274L probably benign Het
Other mutations in Pard6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Pard6b APN 2 168087378 missense probably benign 0.00
R0462:Pard6b UTSW 2 168087547 missense possibly damaging 0.94
R1807:Pard6b UTSW 2 168087412 missense probably damaging 1.00
R3616:Pard6b UTSW 2 168087339 splice site probably benign
R3950:Pard6b UTSW 2 168099194 missense probably damaging 1.00
R4211:Pard6b UTSW 2 168099023 missense probably benign 0.04
R4776:Pard6b UTSW 2 168098788 missense probably damaging 1.00
R5687:Pard6b UTSW 2 168098626 missense probably damaging 1.00
R6053:Pard6b UTSW 2 168099053 missense possibly damaging 0.77
Z1177:Pard6b UTSW 2 168098583 nonsense probably null
Posted On2015-04-16