Incidental Mutation 'IGL02648:Pard6b'
ID 302030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pard6b
Ensembl Gene ENSMUSG00000044641
Gene Name par-6 family cell polarity regulator beta
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # IGL02648
Quality Score
Status
Chromosome 2
Chromosomal Location 167922924-167943123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 167940847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 278 (Q278R)
Ref Sequence ENSEMBL: ENSMUSP00000052619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052125]
AlphaFold Q9JK83
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: 144,344,392 (GRCm39) probably null Het
Acp4 A G 7: 43,904,414 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,659,738 (GRCm39) M1997K probably benign Het
Arhgdib T C 6: 136,910,647 (GRCm39) D38G probably damaging Het
Bbox1 T G 2: 110,135,871 (GRCm39) D36A probably damaging Het
Cacna1c T C 6: 118,734,457 (GRCm39) K104R probably damaging Het
Cacna1i G A 15: 80,182,839 (GRCm39) C75Y probably damaging Het
Ccdc14 T C 16: 34,517,528 (GRCm39) L70S probably damaging Het
Ccdc88a T G 11: 29,451,051 (GRCm39) V1580G probably benign Het
Cdadc1 C A 14: 59,823,812 (GRCm39) D227Y probably damaging Het
Chd3 T C 11: 69,242,976 (GRCm39) Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 (GRCm39) N493S probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Gm10549 C A 18: 33,597,303 (GRCm39) probably benign Het
Greb1 C T 12: 16,758,683 (GRCm39) V678M probably damaging Het
Gucy2c G A 6: 136,706,211 (GRCm39) R497* probably null Het
Itgad T C 7: 127,782,546 (GRCm39) probably benign Het
Lgr4 C A 2: 109,842,718 (GRCm39) T877K probably damaging Het
Lrig3 A G 10: 125,802,463 (GRCm39) D40G probably benign Het
Myo3b T C 2: 69,935,716 (GRCm39) probably benign Het
Neb A G 2: 52,161,093 (GRCm39) Y2193H possibly damaging Het
Or4b1 T A 2: 89,979,697 (GRCm39) I218F possibly damaging Het
Or8b3b T C 9: 38,584,312 (GRCm39) M143V probably benign Het
Pate10 A T 9: 35,652,405 (GRCm39) M21L probably benign Het
Pkd2l1 T C 19: 44,143,975 (GRCm39) Y366C possibly damaging Het
Prl2c1 A G 13: 28,041,542 (GRCm39) D188G probably benign Het
Prl3a1 G T 13: 27,454,218 (GRCm39) M65I probably benign Het
Psg26 T A 7: 18,216,691 (GRCm39) E49D probably benign Het
Rapgef3 G A 15: 97,656,273 (GRCm39) R38W probably damaging Het
Rrn3 T C 16: 13,629,453 (GRCm39) F590L probably benign Het
Serpina12 T C 12: 104,004,267 (GRCm39) K122E probably benign Het
Slc39a6 T C 18: 24,715,424 (GRCm39) I699V probably damaging Het
Tmem259 G A 10: 79,813,651 (GRCm39) P443S probably damaging Het
Vmn1r75 T A 7: 11,615,091 (GRCm39) F274L probably benign Het
Other mutations in Pard6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Pard6b APN 2 167,929,298 (GRCm39) missense probably benign 0.00
R0462:Pard6b UTSW 2 167,929,467 (GRCm39) missense possibly damaging 0.94
R1807:Pard6b UTSW 2 167,929,332 (GRCm39) missense probably damaging 1.00
R3616:Pard6b UTSW 2 167,929,259 (GRCm39) splice site probably benign
R3950:Pard6b UTSW 2 167,941,114 (GRCm39) missense probably damaging 1.00
R4211:Pard6b UTSW 2 167,940,943 (GRCm39) missense probably benign 0.04
R4776:Pard6b UTSW 2 167,940,708 (GRCm39) missense probably damaging 1.00
R5687:Pard6b UTSW 2 167,940,546 (GRCm39) missense probably damaging 1.00
R6053:Pard6b UTSW 2 167,940,973 (GRCm39) missense possibly damaging 0.77
Z1177:Pard6b UTSW 2 167,940,503 (GRCm39) nonsense probably null
Posted On 2015-04-16