Incidental Mutation 'IGL01466:Peli2'
ID88113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Peli2
Ensembl Gene ENSMUSG00000021846
Gene Namepellino 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01466
Quality Score
Status
Chromosome14
Chromosomal Location48120823-48281575 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48256457 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 379 (Y379H)
Ref Sequence ENSEMBL: ENSMUSP00000072894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073150] [ENSMUST00000226828] [ENSMUST00000227362]
Predicted Effect probably damaging
Transcript: ENSMUST00000073150
AA Change: Y379H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: Y379H

DomainStartEndE-ValueType
Pfam:Pellino 10 419 1.2e-223 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226828
Predicted Effect probably benign
Transcript: ENSMUST00000227362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228519
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr A G 15: 89,573,994 N293D probably benign Het
Ankrd49 A G 9: 14,781,349 L173P probably damaging Het
Ccdc152 A G 15: 3,293,847 probably benign Het
Cdh3 G T 8: 106,536,595 R92L possibly damaging Het
Dnajc10 A T 2: 80,321,287 R137S probably benign Het
Dusp27 T G 1: 166,100,504 D513A probably damaging Het
Htra2 A G 6: 83,054,323 L35P probably damaging Het
Il23r A T 6: 67,426,642 M425K probably benign Het
Nfkb2 G T 19: 46,308,016 R241L probably damaging Het
Nup205 A G 6: 35,199,959 D630G probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Plekhg6 G T 6: 125,372,624 probably benign Het
Samd14 G T 11: 95,023,255 probably benign Het
Setd7 A T 3: 51,521,309 *367R probably null Het
Slc26a8 A G 17: 28,654,948 V355A probably benign Het
Slc46a2 T A 4: 59,911,926 K429* probably null Het
Tspan32 T C 7: 143,014,954 probably benign Het
Unc80 T C 1: 66,622,486 V1690A probably benign Het
Ush2a C A 1: 188,911,622 Q4394K probably benign Het
Zfp277 C A 12: 40,378,826 G174V probably benign Het
Other mutations in Peli2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Peli2 APN 14 48252730 nonsense probably null
IGL01810:Peli2 APN 14 48256034 missense probably benign 0.00
IGL02379:Peli2 APN 14 48168298 missense probably damaging 1.00
IGL02870:Peli2 APN 14 48256265 missense probably damaging 1.00
IGL02959:Peli2 APN 14 48240297 missense probably benign 0.35
IGL03328:Peli2 APN 14 48252575 critical splice acceptor site probably null
PIT4378001:Peli2 UTSW 14 48168269 nonsense probably null
R0046:Peli2 UTSW 14 48121202 missense possibly damaging 0.88
R1545:Peli2 UTSW 14 48252717 missense probably benign 0.32
R2027:Peli2 UTSW 14 48256145 missense probably benign 0.25
R2437:Peli2 UTSW 14 48227932 intron probably benign
R5481:Peli2 UTSW 14 48252633 missense probably damaging 1.00
R5750:Peli2 UTSW 14 48256175 missense possibly damaging 0.95
R5831:Peli2 UTSW 14 48168270 missense probably damaging 0.99
R6154:Peli2 UTSW 14 48250594 nonsense probably null
R6445:Peli2 UTSW 14 48256448 missense possibly damaging 0.48
R6712:Peli2 UTSW 14 48250594 missense probably benign 0.30
R7469:Peli2 UTSW 14 48250558 missense probably benign
Posted On2013-11-18