Incidental Mutation 'IGL01810:Peli2'
ID 155804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Peli2
Ensembl Gene ENSMUSG00000021846
Gene Name pellino 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01810
Quality Score
Status
Chromosome 14
Chromosomal Location 48358280-48519032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48493491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 238 (V238I)
Ref Sequence ENSEMBL: ENSMUSP00000072894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073150] [ENSMUST00000226828] [ENSMUST00000227362]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000073150
AA Change: V238I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: V238I

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,308,185 (GRCm39) Y10* probably null Het
Aass C A 6: 23,107,633 (GRCm39) Q383H probably damaging Het
Bag1 T C 4: 40,936,657 (GRCm39) D333G probably damaging Het
Cap2 A G 13: 46,793,425 (GRCm39) probably benign Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Cr2 A G 1: 194,841,903 (GRCm39) V726A possibly damaging Het
Csmd2 A G 4: 128,374,638 (GRCm39) probably benign Het
Dennd4c A G 4: 86,717,788 (GRCm39) D595G possibly damaging Het
Ercc2 G T 7: 19,127,374 (GRCm39) R340L probably damaging Het
Espl1 A G 15: 102,206,640 (GRCm39) T35A probably benign Het
Fndc3a A G 14: 72,803,581 (GRCm39) Y525H probably benign Het
Gm4922 T C 10: 18,659,795 (GRCm39) Q309R probably benign Het
Gm5263 T C 1: 146,296,292 (GRCm39) noncoding transcript Het
Gm6563 A C 19: 23,653,751 (GRCm39) R180S probably damaging Het
Gpr182 C A 10: 127,586,733 (GRCm39) V73F probably damaging Het
Gramd1b C T 9: 40,227,069 (GRCm39) R179H probably damaging Het
Hk1 C T 10: 62,188,884 (GRCm39) A10T probably benign Het
Hmgn3 C A 9: 82,992,437 (GRCm39) probably benign Het
Il1b C T 2: 129,211,649 (GRCm39) E24K probably damaging Het
Itgb6 G T 2: 60,458,329 (GRCm39) Q475K probably benign Het
Lrrc74b A G 16: 17,363,422 (GRCm39) S368P probably benign Het
Mfsd2b T C 12: 4,916,469 (GRCm39) T234A possibly damaging Het
Muc6 A T 7: 141,237,327 (GRCm39) Y270N probably damaging Het
Naip6 A G 13: 100,424,603 (GRCm39) probably benign Het
Or4b13 A T 2: 90,082,476 (GRCm39) Y285* probably null Het
Pear1 G A 3: 87,659,608 (GRCm39) T742I probably damaging Het
Pira2 A G 7: 3,847,611 (GRCm39) L26P probably damaging Het
Pot1b A G 17: 55,969,521 (GRCm39) V549A possibly damaging Het
Prdm16 T C 4: 154,432,384 (GRCm39) Y295C probably benign Het
Ptprd A T 4: 76,058,744 (GRCm39) probably benign Het
Rap1gap A T 4: 137,443,466 (GRCm39) M145L probably benign Het
Setd7 A T 3: 51,440,388 (GRCm39) probably benign Het
Ssx2ip T C 3: 146,133,765 (GRCm39) I258T probably benign Het
Stard9 T C 2: 120,529,565 (GRCm39) Y1941H possibly damaging Het
Stxbp3 T C 3: 108,707,468 (GRCm39) E420G probably benign Het
Tpra1 T C 6: 88,886,324 (GRCm39) V101A probably damaging Het
Tpx2 G T 2: 152,726,155 (GRCm39) Q373H probably damaging Het
Ttn C T 2: 76,557,352 (GRCm39) R29914Q probably damaging Het
Ubr3 T C 2: 69,833,809 (GRCm39) probably null Het
Usp18 G A 6: 121,230,730 (GRCm39) G53D probably damaging Het
Vps13c A T 9: 67,863,062 (GRCm39) H3026L probably benign Het
Zan T C 5: 137,461,888 (GRCm39) E1097G unknown Het
Other mutations in Peli2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Peli2 APN 14 48,490,187 (GRCm39) nonsense probably null
IGL01466:Peli2 APN 14 48,493,914 (GRCm39) missense probably damaging 1.00
IGL02379:Peli2 APN 14 48,405,755 (GRCm39) missense probably damaging 1.00
IGL02870:Peli2 APN 14 48,493,722 (GRCm39) missense probably damaging 1.00
IGL02959:Peli2 APN 14 48,477,754 (GRCm39) missense probably benign 0.35
IGL03328:Peli2 APN 14 48,490,032 (GRCm39) critical splice acceptor site probably null
PIT4378001:Peli2 UTSW 14 48,405,726 (GRCm39) nonsense probably null
R0046:Peli2 UTSW 14 48,358,659 (GRCm39) missense possibly damaging 0.88
R1545:Peli2 UTSW 14 48,490,174 (GRCm39) missense probably benign 0.32
R2027:Peli2 UTSW 14 48,493,602 (GRCm39) missense probably benign 0.25
R2437:Peli2 UTSW 14 48,465,389 (GRCm39) intron probably benign
R5481:Peli2 UTSW 14 48,490,090 (GRCm39) missense probably damaging 1.00
R5750:Peli2 UTSW 14 48,493,632 (GRCm39) missense possibly damaging 0.95
R5831:Peli2 UTSW 14 48,405,727 (GRCm39) missense probably damaging 0.99
R6154:Peli2 UTSW 14 48,488,051 (GRCm39) nonsense probably null
R6445:Peli2 UTSW 14 48,493,905 (GRCm39) missense possibly damaging 0.48
R6712:Peli2 UTSW 14 48,488,051 (GRCm39) missense probably benign 0.30
R7469:Peli2 UTSW 14 48,488,015 (GRCm39) missense probably benign
R7685:Peli2 UTSW 14 48,517,491 (GRCm39) missense not run
R8817:Peli2 UTSW 14 48,490,130 (GRCm39) missense possibly damaging 0.46
R8819:Peli2 UTSW 14 48,490,130 (GRCm39) missense possibly damaging 0.46
R8820:Peli2 UTSW 14 48,490,130 (GRCm39) missense possibly damaging 0.46
R8821:Peli2 UTSW 14 48,490,130 (GRCm39) missense possibly damaging 0.46
R8853:Peli2 UTSW 14 48,493,945 (GRCm39) missense probably damaging 1.00
R9177:Peli2 UTSW 14 48,518,927 (GRCm39) missense probably benign 0.01
R9268:Peli2 UTSW 14 48,518,927 (GRCm39) missense probably benign 0.01
R9521:Peli2 UTSW 14 48,490,052 (GRCm39) missense probably benign 0.06
R9553:Peli2 UTSW 14 48,488,150 (GRCm39) missense probably damaging 1.00
R9595:Peli2 UTSW 14 48,493,846 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04