Incidental Mutation 'R3950:Pard6b'
ID 307855
Institutional Source Beutler Lab
Gene Symbol Pard6b
Ensembl Gene ENSMUSG00000044641
Gene Name par-6 family cell polarity regulator beta
Synonyms
MMRRC Submission 040930-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R3950 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 167922924-167943123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 167941114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 367 (T367I)
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 damaging
Transcript: ENSMUST00000052125
AA Change: T367I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052619
Gene: ENSMUSG00000044641
AA Change: T367I

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Ahnak2 A T 12: 112,749,409 (GRCm39) I186N probably damaging Het
Appbp2 A G 11: 85,085,532 (GRCm39) I458T probably damaging Het
Arhgef25 T C 10: 127,021,013 (GRCm39) Y291C probably damaging Het
Ate1 T C 7: 130,069,022 (GRCm39) Y415C probably damaging Het
B4galt4 G T 16: 38,588,384 (GRCm39) A72S probably benign Het
C3 T C 17: 57,532,286 (GRCm39) R178G probably benign Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Col11a1 T C 3: 113,915,094 (GRCm39) probably null Het
Col22a1 A G 15: 71,849,207 (GRCm39) F294L possibly damaging Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Dync2h1 A T 9: 7,112,061 (GRCm39) Y276* probably null Het
Eea1 A T 10: 95,877,996 (GRCm39) N1389I probably damaging Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fezf1 T A 6: 23,247,419 (GRCm39) K219* probably null Het
Fsd1 G A 17: 56,302,517 (GRCm39) probably null Het
Haspin A G 11: 73,027,221 (GRCm39) Y623H probably damaging Het
Hsd3b1 C T 3: 98,763,454 (GRCm39) V56M possibly damaging Het
Hyou1 C T 9: 44,296,524 (GRCm39) T483I probably damaging Het
Kdm2a A G 19: 4,393,260 (GRCm39) L365S possibly damaging Het
Kdm6b G T 11: 69,296,441 (GRCm39) P609T probably damaging Het
Klhl18 T A 9: 110,257,970 (GRCm39) Y490F probably damaging Het
Ky C T 9: 102,419,627 (GRCm39) Q545* probably null Het
L1td1 T C 4: 98,625,590 (GRCm39) L595P probably benign Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Mug1 T A 6: 121,855,489 (GRCm39) V941E probably damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Ninl A T 2: 150,794,408 (GRCm39) I740K possibly damaging Het
Npepl1 A G 2: 173,962,906 (GRCm39) N431D probably damaging Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Pacs2 T C 12: 113,024,733 (GRCm39) S408P probably damaging Het
Pcdhga7 A G 18: 37,849,568 (GRCm39) E525G probably damaging Het
Pctp A G 11: 89,878,144 (GRCm39) I130T probably benign Het
Pcx C T 19: 4,667,995 (GRCm39) H506Y probably benign Het
Pdhx A G 2: 102,865,586 (GRCm39) S199P probably damaging Het
Pdia2 C A 17: 26,416,590 (GRCm39) probably null Het
Pif1 C A 9: 65,499,116 (GRCm39) N445K probably damaging Het
Prickle4 T C 17: 47,999,507 (GRCm39) K349E probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpdc1 A T 13: 48,742,670 (GRCm39) M173K probably damaging Het
Rb1 A G 14: 73,500,102 (GRCm39) L515P probably damaging Het
Rcvrn A G 11: 67,590,877 (GRCm39) K154E probably damaging Het
Ros1 C T 10: 51,942,484 (GRCm39) V2059I probably damaging Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Sema5a T C 15: 32,689,484 (GRCm39) Y1050H probably damaging Het
Slc25a28 C T 19: 43,652,708 (GRCm39) V318I probably benign Het
Srek1 G A 13: 103,881,403 (GRCm39) R408W unknown Het
Synrg C T 11: 83,880,641 (GRCm39) T444I probably damaging Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Tmem127 T C 2: 127,090,577 (GRCm39) L31P probably damaging Het
Tmprss15 T A 16: 78,870,074 (GRCm39) T190S probably benign Het
Trip10 T A 17: 57,560,411 (GRCm39) probably null Het
Ttc6 A G 12: 57,696,292 (GRCm39) Y31C probably damaging Het
Unc80 A T 1: 66,661,729 (GRCm39) H1718L possibly damaging Het
Zbtb38 A G 9: 96,569,599 (GRCm39) F495S probably damaging Het
Zfp280d G T 9: 72,203,301 (GRCm39) Q16H possibly damaging Het
Zfp521 A G 18: 13,979,403 (GRCm39) S337P probably damaging Het
Zswim9 T A 7: 12,995,503 (GRCm39) T218S possibly damaging Het
Other mutations in Pard6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Pard6b APN 2 167,929,298 (GRCm39) missense probably benign 0.00
IGL02648:Pard6b APN 2 167,940,847 (GRCm39) missense probably benign 0.17
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
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
Predicted Primers PCR Primer
(F):5'- ATTGAAGACAGTGGCGAGCC -3'
(R):5'- TCTCAGTTTCAGAGCAGCAG -3'

Sequencing Primer
(F):5'- CGCAGCAGATCCCGAAG -3'
(R):5'- TTTCAGAGCAGCAGCACCTG -3'
Posted On 2015-04-17