Incidental Mutation 'IGL01514:Pard6g'
ID 89317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pard6g
Ensembl Gene ENSMUSG00000056214
Gene Name par-6 family cell polarity regulator gamma
Synonyms 2410049N21Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # IGL01514
Quality Score
Status
Chromosome 18
Chromosomal Location 80090105-80162854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80160661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 258 (R258H)
Ref Sequence ENSEMBL: ENSMUSP00000069182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070219]
AlphaFold Q9JK84
Predicted Effect probably damaging
Transcript: ENSMUST00000070219
AA Change: R258H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069182
Gene: ENSMUSG00000056214
AA Change: R258H

DomainStartEndE-ValueType
PB1 18 98 1.16e-16 SMART
PDZ 168 251 8.6e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,669,587 (GRCm39) probably benign Het
Actl7b T C 4: 56,740,677 (GRCm39) Y227C probably damaging Het
Adam26a A T 8: 44,021,485 (GRCm39) H668Q probably benign Het
Alcam A T 16: 52,094,653 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,144,624 (GRCm39) probably benign Het
Atp11b G T 3: 35,891,130 (GRCm39) G801V probably damaging Het
C3 G A 17: 57,522,866 (GRCm39) T1006I probably benign Het
Cacna2d4 T C 6: 119,259,134 (GRCm39) probably benign Het
Cldn34b3 A T X: 75,310,680 (GRCm39) I83F probably damaging Het
Clec2g G A 6: 128,925,736 (GRCm39) M48I probably benign Het
Coch A G 12: 51,650,136 (GRCm39) D375G probably damaging Het
Erbb2 C T 11: 98,323,745 (GRCm39) T653I possibly damaging Het
Etv3 A G 3: 87,443,025 (GRCm39) H203R possibly damaging Het
Fat4 A G 3: 39,003,683 (GRCm39) R1801G possibly damaging Het
Gars1 T A 6: 55,042,505 (GRCm39) S413T probably benign Het
Gnat1 G A 9: 107,553,500 (GRCm39) R253C possibly damaging Het
Hook3 A T 8: 26,578,217 (GRCm39) L91I possibly damaging Het
Lrp8 T C 4: 107,712,881 (GRCm39) Y377H probably damaging Het
Lztr1 G A 16: 17,340,255 (GRCm39) probably null Het
Malt1 A G 18: 65,609,471 (GRCm39) D825G possibly damaging Het
Nlrp9b T C 7: 19,779,859 (GRCm39) probably null Het
Or1x2 C T 11: 50,918,416 (GRCm39) R196* probably null Het
Or2v2 A T 11: 49,004,403 (GRCm39) I50N probably damaging Het
Orc1 A G 4: 108,459,249 (GRCm39) R473G probably damaging Het
Pkdrej T C 15: 85,702,264 (GRCm39) D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 (GRCm39) T18A probably benign Het
Pycr3 T C 15: 75,788,853 (GRCm39) T240A probably damaging Het
Ralgapa1 C A 12: 55,766,442 (GRCm39) G1284V probably damaging Het
Rcl1 T C 19: 29,120,698 (GRCm39) probably benign Het
Sec24c C T 14: 20,732,839 (GRCm39) T134I possibly damaging Het
Sis A G 3: 72,843,253 (GRCm39) probably benign Het
Susd5 A C 9: 113,897,947 (GRCm39) probably benign Het
Tlk1 T C 2: 70,582,610 (GRCm39) N173S probably benign Het
Uroc1 T C 6: 90,340,082 (GRCm39) probably benign Het
Other mutations in Pard6g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Pard6g APN 18 80,123,037 (GRCm39) splice site probably benign
IGL01519:Pard6g APN 18 80,123,071 (GRCm39) missense probably benign 0.34
IGL02305:Pard6g APN 18 80,160,985 (GRCm39) missense probably damaging 1.00
IGL03115:Pard6g APN 18 80,123,068 (GRCm39) missense probably damaging 1.00
R0411:Pard6g UTSW 18 80,160,337 (GRCm39) missense probably damaging 1.00
R0604:Pard6g UTSW 18 80,160,423 (GRCm39) missense probably damaging 1.00
R0938:Pard6g UTSW 18 80,123,259 (GRCm39) nonsense probably null
R1730:Pard6g UTSW 18 80,123,040 (GRCm39) missense probably damaging 0.97
R1783:Pard6g UTSW 18 80,123,040 (GRCm39) missense probably damaging 0.97
R1785:Pard6g UTSW 18 80,160,523 (GRCm39) missense probably damaging 0.96
R1786:Pard6g UTSW 18 80,160,523 (GRCm39) missense probably damaging 0.96
R1851:Pard6g UTSW 18 80,160,357 (GRCm39) missense probably damaging 1.00
R2070:Pard6g UTSW 18 80,160,940 (GRCm39) missense probably benign 0.00
R2132:Pard6g UTSW 18 80,160,523 (GRCm39) missense probably damaging 0.96
R2133:Pard6g UTSW 18 80,160,523 (GRCm39) missense probably damaging 0.96
R3778:Pard6g UTSW 18 80,123,038 (GRCm39) critical splice acceptor site probably null
R5282:Pard6g UTSW 18 80,123,116 (GRCm39) missense probably benign 0.01
R6084:Pard6g UTSW 18 80,160,420 (GRCm39) missense possibly damaging 0.73
R6913:Pard6g UTSW 18 80,160,534 (GRCm39) missense possibly damaging 0.94
R7124:Pard6g UTSW 18 80,160,340 (GRCm39) missense possibly damaging 0.70
R8109:Pard6g UTSW 18 80,160,658 (GRCm39) missense possibly damaging 0.65
R8469:Pard6g UTSW 18 80,090,347 (GRCm39) missense possibly damaging 0.81
R8903:Pard6g UTSW 18 80,160,411 (GRCm39) nonsense probably null
R8915:Pard6g UTSW 18 80,160,957 (GRCm39) missense probably damaging 0.99
R9077:Pard6g UTSW 18 80,160,772 (GRCm39) missense probably damaging 0.99
Posted On 2013-12-03