Incidental Mutation 'IGL01393:Pard6b'
ID79300
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: 0.397) question?
Stock #IGL01393
Quality Score
Status
Chromosome2
Chromosomal Location168081004-168101203 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 168087378 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 35 (S35T)
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: S35T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000052619
Gene: ENSMUSG00000044641
AA Change: S35T

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 36,096,422 V126I possibly damaging Het
A630073D07Rik G T 6: 132,626,614 Q60K unknown Het
Alpk2 A G 18: 65,307,708 S205P possibly damaging Het
Ang4 T A 14: 51,764,213 I93L probably benign Het
Arpin A G 7: 79,931,840 V44A possibly damaging Het
Atxn3 A T 12: 101,933,047 C263* probably null Het
C530008M17Rik T C 5: 76,858,971 S1060P unknown Het
Cd209f T C 8: 4,103,154 N260S probably damaging Het
Cdh20 A G 1: 104,934,244 R50G probably benign Het
Csmd3 C T 15: 48,457,599 V272I possibly damaging Het
Dst A T 1: 34,167,625 Y1136F possibly damaging Het
Fam20c A G 5: 138,807,271 Y420C probably damaging Het
Fancd2 T A 6: 113,577,360 probably benign Het
Fat2 T C 11: 55,269,309 D3326G probably benign Het
Filip1l A G 16: 57,572,223 N820S probably damaging Het
Gm26566 G A 4: 88,722,344 probably benign Het
Gm4792 A G 10: 94,298,442 L22P unknown Het
Gpat2 A G 2: 127,432,651 E386G probably damaging Het
Grm3 T C 5: 9,589,856 D63G probably benign Het
Hdc A G 2: 126,594,661 V430A probably benign Het
Hnf4a T C 2: 163,551,572 probably benign Het
Il2ra A G 2: 11,683,054 D215G probably damaging Het
Kctd3 T C 1: 189,000,290 I74V probably benign Het
Kctd5 A T 17: 24,059,318 probably null Het
Lrsam1 A T 2: 32,955,173 probably benign Het
Mblac1 A G 5: 138,194,774 N126S possibly damaging Het
Mmrn1 T A 6: 60,960,708 probably benign Het
Mpp3 A T 11: 102,025,478 L16Q probably damaging Het
Mrgprb1 C A 7: 48,448,006 A53S possibly damaging Het
Nbea C A 3: 56,005,308 M1019I probably benign Het
Nlrp5 A G 7: 23,404,174 K22R probably null Het
Olfr1298 A G 2: 111,645,256 V247A probably damaging Het
Olfr350 G A 2: 36,850,541 R165Q probably benign Het
Olfr700 C T 7: 106,806,435 G9E probably benign Het
Peli1 T C 11: 21,147,400 V215A probably benign Het
Pkp4 A T 2: 59,347,925 D1003V probably damaging Het
Pot1a G A 6: 25,744,631 R625* probably null Het
Ppp1r16a T C 15: 76,694,544 S483P probably benign Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prrg3 T C X: 71,967,517 V210A probably benign Het
Rev1 A G 1: 38,092,063 V168A probably damaging Het
Sez6l G T 5: 112,438,395 probably benign Het
Spag17 A G 3: 100,027,610 T711A possibly damaging Het
Spice1 A G 16: 44,366,630 I163M probably benign Het
Tex13c1 C T X: 43,591,356 A66V probably damaging Het
Tmem132d A T 5: 127,784,638 S806R probably benign Het
Tnc A G 4: 64,014,054 probably benign Het
Tpbg T A 9: 85,844,092 V38E unknown Het
Unc13c T A 9: 73,540,270 I1883F probably benign Het
Vmn2r61 A C 7: 42,266,834 Q290H probably benign Het
Vps39 A G 2: 120,350,238 probably benign Het
Zfp369 T C 13: 65,294,474 V294A possibly damaging Het
Zfp821 T A 8: 109,709,478 probably benign Het
Zfp941 C T 7: 140,811,928 G506E probably damaging Het
Other mutations in Pard6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02648:Pard6b APN 2 168098927 missense probably benign 0.17
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 On2013-11-05