Incidental Mutation 'IGL00236:Pard6a'
ID 2303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pard6a
Ensembl Gene ENSMUSG00000005699
Gene Name par-6 family cell polarity regulator alpha
Synonyms Par6, PAR6alpha, Par6c, 2610010A15Rik, 0710008C04Rik, Tip-40, Par-6, TAX40
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00236
Quality Score
Status
Chromosome 8
Chromosomal Location 105701148-105703496 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105702814 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 135 (S135P)
Ref Sequence ENSEMBL: ENSMUSP00000148821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212061] [ENSMUST00000212352] [ENSMUST00000212430] [ENSMUST00000213019] [ENSMUST00000212642] [ENSMUST00000212650]
AlphaFold Q9Z101
Predicted Effect probably benign
Transcript: ENSMUST00000013299
SMART Domains Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

DomainStartEndE-ValueType
low complexity region 220 236 N/A INTRINSIC
Pfam:Enkurin 243 339 6.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042608
SMART Domains Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

DomainStartEndE-ValueType
Pfam:TPP1 11 118 2.4e-23 PFAM
low complexity region 259 272 N/A INTRINSIC
low complexity region 296 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000062574
SMART Domains Protein: ENSMUSP00000052322
Gene: ENSMUSG00000050357

DomainStartEndE-ValueType
Pfam:CARMIL_C 149 442 3.3e-62 PFAM
low complexity region 467 484 N/A INTRINSIC
low complexity region 631 659 N/A INTRINSIC
low complexity region 696 727 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093195
AA Change: S165P

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699
AA Change: S165P

DomainStartEndE-ValueType
PB1 15 95 2.81e-15 SMART
PDZ 167 250 1.38e-12 SMART
low complexity region 263 286 N/A INTRINSIC
low complexity region 309 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098444
AA Change: S149P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699
AA Change: S149P

DomainStartEndE-ValueType
PB1 4 79 1.28e-9 SMART
PDZ 151 234 1.38e-12 SMART
low complexity region 247 270 N/A INTRINSIC
low complexity region 293 307 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211870
Predicted Effect probably damaging
Transcript: ENSMUST00000211888
AA Change: S135P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000212061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212162
Predicted Effect probably damaging
Transcript: ENSMUST00000212352
AA Change: S148P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000212430
AA Change: S164P

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212634
Predicted Effect probably benign
Transcript: ENSMUST00000213019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212972
Predicted Effect probably benign
Transcript: ENSMUST00000212642
Predicted Effect probably benign
Transcript: ENSMUST00000212650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212687
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 and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,443,697 V43A probably damaging Het
Ankrd17 A T 5: 90,233,928 S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 L176P probably damaging Het
Caprin2 A G 6: 148,843,071 I952T probably damaging Het
Cdkl4 A T 17: 80,525,276 probably benign Het
Cfap44 T C 16: 44,407,404 L156P probably damaging Het
Dock9 A G 14: 121,668,468 L90S probably benign Het
Efhb T C 17: 53,462,453 D276G probably damaging Het
Ep300 A G 15: 81,641,418 D1481G unknown Het
Fam83b T C 9: 76,490,978 I948V probably benign Het
Fbxl5 G T 5: 43,765,336 H247N probably damaging Het
Fn1 A G 1: 71,652,873 I37T probably benign Het
Hfe C T 13: 23,705,852 probably benign Het
Ighv1-36 A T 12: 114,880,150 L29Q possibly damaging Het
Inpp5e G T 2: 26,408,521 Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 S619P probably damaging Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 V99M possibly damaging Het
Olfr1489 A T 19: 13,633,539 I143F probably benign Het
Olfr571 T C 7: 102,909,272 H189R probably damaging Het
Prss43 G T 9: 110,829,470 Q279H probably benign Het
Ptcd2 T C 13: 99,330,065 N207D probably benign Het
Ros1 T C 10: 52,194,890 I23V probably benign Het
Scg5 A G 2: 113,827,570 probably benign Het
Sh3bp5 T A 14: 31,379,390 K212* probably null Het
Slc25a30 C T 14: 75,766,925 G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 R689G probably damaging Het
Spatc1 A G 15: 76,284,794 D321G probably damaging Het
Stat4 A T 1: 52,102,878 Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 V813I probably benign Het
Other mutations in Pard6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Pard6a APN 8 105703201 missense probably benign 0.00
IGL01453:Pard6a APN 8 105702677 splice site probably null
IGL02044:Pard6a APN 8 105703019 missense probably damaging 0.99
R1209:Pard6a UTSW 8 105702391 missense probably benign 0.10
R5618:Pard6a UTSW 8 105702914 missense probably damaging 1.00
R6208:Pard6a UTSW 8 105702234 missense probably damaging 0.98
R8085:Pard6a UTSW 8 105703010 missense probably damaging 1.00
R8238:Pard6a UTSW 8 105702734 missense probably damaging 1.00
R8523:Pard6a UTSW 8 105702249 missense probably benign
Posted On 2011-12-09