Incidental Mutation 'IGL03115:Pard6g'
ID 419391
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 # IGL03115
Quality Score
Status
Chromosome 18
Chromosomal Location 80090105-80162854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 80123068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Tryptophan at position 34 (L34W)
Ref Sequence ENSEMBL: ENSMUSP00000069182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070219]
AlphaFold Q9JK84
Predicted Effect probably damaging
Transcript: ENSMUST00000070219
AA Change: L34W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069182
Gene: ENSMUSG00000056214
AA Change: L34W

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,808,802 (GRCm39) H302L probably damaging Het
Adamts12 T A 15: 11,263,422 (GRCm39) C595S probably damaging Het
Arid2 G A 15: 96,268,154 (GRCm39) V756I probably damaging Het
Asah1 A T 8: 41,813,336 (GRCm39) W26R possibly damaging Het
Brinp1 C T 4: 68,822,973 (GRCm39) probably null Het
Cers2 A G 3: 95,228,663 (GRCm39) D162G probably damaging Het
Clasp1 G T 1: 118,429,053 (GRCm39) E106* probably null Het
Col12a1 T C 9: 79,588,719 (GRCm39) E1132G probably damaging Het
Dhdds G T 4: 133,710,182 (GRCm39) H196N probably benign Het
Eps8 T C 6: 137,504,379 (GRCm39) D118G probably damaging Het
Fmo9 A G 1: 166,505,220 (GRCm39) S7P probably damaging Het
Gamt A G 10: 80,094,272 (GRCm39) L197P probably damaging Het
Grb7 A G 11: 98,341,945 (GRCm39) I82V probably damaging Het
Hectd2 T C 19: 36,577,121 (GRCm39) probably null Het
Ilk T C 7: 105,389,542 (GRCm39) V83A probably damaging Het
Kif21a T A 15: 90,869,598 (GRCm39) I418F probably damaging Het
Kndc1 A G 7: 139,501,425 (GRCm39) I905V probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Morc3 T C 16: 93,667,971 (GRCm39) I710T probably damaging Het
Nefm T C 14: 68,357,728 (GRCm39) probably benign Het
Or10d5 T C 9: 39,862,040 (GRCm39) E9G probably damaging Het
Or2f2 A G 6: 42,767,599 (GRCm39) T209A probably benign Het
Or8g23 C A 9: 38,971,259 (GRCm39) R234S probably damaging Het
Patj C T 4: 98,332,040 (GRCm39) S562L probably damaging Het
Pcsk4 A G 10: 80,164,883 (GRCm39) I61T probably damaging Het
Pcsk7 T A 9: 45,825,670 (GRCm39) H300Q probably damaging Het
Pip5kl1 A G 2: 32,470,033 (GRCm39) D288G probably damaging Het
Plxnb2 T A 15: 89,046,641 (GRCm39) probably benign Het
Poldip2 T C 11: 78,411,970 (GRCm39) probably benign Het
Ralgapa2 T C 2: 146,266,734 (GRCm39) Y614C probably damaging Het
Rarres1 C A 3: 67,403,145 (GRCm39) probably null Het
Samd3 C T 10: 26,147,606 (GRCm39) T427M probably damaging Het
Skap1 A G 11: 96,593,446 (GRCm39) I98V probably benign Het
Skint11 T C 4: 114,101,820 (GRCm39) S87P probably damaging Het
Slc22a22 T G 15: 57,126,670 (GRCm39) E133A probably damaging Het
Slc23a2 T C 2: 131,933,185 (GRCm39) Y91C probably damaging Het
Slc6a20b T A 9: 123,426,403 (GRCm39) E494V possibly damaging Het
Slco1a4 A T 6: 141,765,329 (GRCm39) D304E probably benign Het
Slco1a4 A C 6: 141,763,585 (GRCm39) M377R probably damaging Het
Srpk2 T C 5: 23,729,616 (GRCm39) probably null Het
Supt3 T G 17: 45,352,114 (GRCm39) C271W probably damaging Het
Taar7d C A 10: 23,903,539 (GRCm39) F140L probably benign Het
Tmbim7 T C 5: 3,729,158 (GRCm39) *225Q probably null Het
Tpst1 T C 5: 130,130,752 (GRCm39) I74T probably damaging Het
Utp3 T C 5: 88,703,179 (GRCm39) V236A possibly damaging Het
Vmn2r55 A T 7: 12,404,558 (GRCm39) F282I probably damaging Het
Vwa5b1 A T 4: 138,327,460 (GRCm39) I372N possibly damaging Het
Wtip C T 7: 33,824,958 (GRCm39) A209T probably damaging Het
Zbbx T C 3: 74,985,867 (GRCm39) D395G probably benign Het
Zfp273 A T 13: 67,973,769 (GRCm39) H299L probably damaging Het
Zfp459 G A 13: 67,556,796 (GRCm39) R96* probably null Het
Other mutations in Pard6g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Pard6g APN 18 80,123,037 (GRCm39) splice site probably benign
IGL01514:Pard6g APN 18 80,160,661 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02