Incidental Mutation 'IGL02305:Pard6g'
ID287562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pard6g
Ensembl Gene ENSMUSG00000056214
Gene Namepar-6 family cell polarity regulator gamma
Synonyms2410049N21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #IGL02305
Quality Score
Status
Chromosome18
Chromosomal Location80046895-80119640 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80117770 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 366 (L366P)
Ref Sequence ENSEMBL: ENSMUSP00000069182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070219]
Predicted Effect probably damaging
Transcript: ENSMUST00000070219
AA Change: L366P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069182
Gene: ENSMUSG00000056214
AA Change: L366P

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,772,929 T599I probably damaging Het
Ahi1 A G 10: 20,970,897 T409A probably benign Het
Apol10b T A 15: 77,585,430 R182S possibly damaging Het
Arhgap35 A G 7: 16,563,665 F492L probably benign Het
Ccdc136 A G 6: 29,406,174 D173G probably damaging Het
Ccdc36 A T 9: 108,405,832 M219K possibly damaging Het
Ccndbp1 T C 2: 121,011,452 L67P probably damaging Het
Dync2h1 C T 9: 7,122,678 V2093I probably benign Het
Eps15l1 T C 8: 72,387,009 K213R probably null Het
Fat4 A T 3: 39,009,988 N4698Y probably damaging Het
Frmpd1 G T 4: 45,249,209 R133L probably damaging Het
Gdi2 T A 13: 3,556,428 M158K probably damaging Het
Hoxc8 A G 15: 102,992,593 Y156C probably damaging Het
Kcnh2 T C 5: 24,322,660 D898G possibly damaging Het
Kng2 T C 16: 23,000,624 probably benign Het
Men1 T C 19: 6,340,138 L566P probably damaging Het
Mtmr2 T C 9: 13,795,255 W153R probably damaging Het
Mug2 T G 6: 122,036,056 L309R probably benign Het
Myo7a A G 7: 98,051,629 *2165R probably null Het
Ogfod2 T C 5: 124,112,847 probably null Het
Olfr44 A T 9: 39,485,037 I72N probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pdlim4 A T 11: 54,055,933 L117H probably damaging Het
Pkd1l1 G A 11: 8,902,467 A672V probably benign Het
Pomt2 A G 12: 87,117,929 probably benign Het
Prpf4 T A 4: 62,415,396 probably benign Het
Rad17 C T 13: 100,633,862 probably null Het
Ryr3 T A 2: 112,645,277 I4499F probably damaging Het
Sav1 A G 12: 69,986,776 probably benign Het
Scube1 A T 15: 83,607,390 F887I probably damaging Het
Slc5a6 T C 5: 31,037,835 S473G probably benign Het
Taf1b T C 12: 24,544,271 S268P possibly damaging Het
Tmem135 A T 7: 89,165,123 probably null Het
Vmn2r104 A T 17: 20,042,856 N114K probably benign Het
Ypel5 A T 17: 72,848,596 Y53F probably benign Het
Zfp438 A G 18: 5,213,674 V428A possibly damaging Het
Zzef1 T C 11: 72,866,597 probably benign Het
Other mutations in Pard6g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Pard6g APN 18 80079822 splice site probably benign
IGL01514:Pard6g APN 18 80117446 missense probably damaging 1.00
IGL01519:Pard6g APN 18 80079856 missense probably benign 0.34
IGL03115:Pard6g APN 18 80079853 missense probably damaging 1.00
R0411:Pard6g UTSW 18 80117122 missense probably damaging 1.00
R0604:Pard6g UTSW 18 80117208 missense probably damaging 1.00
R0938:Pard6g UTSW 18 80080044 nonsense probably null
R1730:Pard6g UTSW 18 80079825 missense probably damaging 0.97
R1783:Pard6g UTSW 18 80079825 missense probably damaging 0.97
R1785:Pard6g UTSW 18 80117308 missense probably damaging 0.96
R1786:Pard6g UTSW 18 80117308 missense probably damaging 0.96
R1851:Pard6g UTSW 18 80117142 missense probably damaging 1.00
R2070:Pard6g UTSW 18 80117725 missense probably benign 0.00
R2132:Pard6g UTSW 18 80117308 missense probably damaging 0.96
R2133:Pard6g UTSW 18 80117308 missense probably damaging 0.96
R3778:Pard6g UTSW 18 80079823 critical splice acceptor site probably null
R5282:Pard6g UTSW 18 80079901 missense probably benign 0.01
R6084:Pard6g UTSW 18 80117205 missense possibly damaging 0.73
R6913:Pard6g UTSW 18 80117319 missense possibly damaging 0.94
R7124:Pard6g UTSW 18 80117125 missense possibly damaging 0.70
Posted On2015-04-16