Incidental Mutation 'R8684:Peli3'
ID 661969
Institutional Source Beutler Lab
Gene Symbol Peli3
Ensembl Gene ENSMUSG00000024901
Gene Name pellino 3
Synonyms 6030441F14Rik
MMRRC Submission 068539-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R8684 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4979745-4993155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4985022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 163 (Y163C)
Ref Sequence ENSEMBL: ENSMUSP00000025834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025834] [ENSMUST00000120475] [ENSMUST00000133254]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025834
AA Change: Y163C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025834
Gene: ENSMUSG00000024901
AA Change: Y163C

DomainStartEndE-ValueType
Pfam:Pellino 35 445 3.8e-211 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120475
AA Change: Y129C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113193
Gene: ENSMUSG00000024901
AA Change: Y129C

DomainStartEndE-ValueType
Pfam:Pellino 30 95 1.8e-24 PFAM
Pfam:Pellino 92 411 5.3e-175 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133254
SMART Domains Protein: ENSMUSP00000118173
Gene: ENSMUSG00000024901

DomainStartEndE-ValueType
Pfam:Pellino 30 155 3.5e-58 PFAM
Meta Mutation Damage Score 0.7605 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null mutation display decreased susceptibility to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik C T 7: 42,097,413 (GRCm39) R27H probably benign Het
Abca2 T A 2: 25,336,508 (GRCm39) L2229Q possibly damaging Het
Adamts4 A T 1: 171,086,541 (GRCm39) T778S probably damaging Het
AY358078 T G 14: 52,059,597 (GRCm39) Y311* probably null Het
Catsperg1 C T 7: 28,897,825 (GRCm39) V181M probably damaging Het
Cdcp3 C A 7: 130,837,688 (GRCm39) S528* probably null Het
Cep70 A G 9: 99,145,842 (GRCm39) K170E possibly damaging Het
Coro1b T A 19: 4,199,527 (GRCm39) V62E probably damaging Het
Dnajc11 T C 4: 152,065,183 (GRCm39) *560Q probably null Het
Eci3 T C 13: 35,143,874 (GRCm39) N84D probably damaging Het
F5 T A 1: 164,045,111 (GRCm39) V2133E probably benign Het
Fancl C A 11: 26,420,826 (GRCm39) P116Q Het
Gm10801 ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC ATTTTCAGTTTTC 2: 98,492,669 (GRCm39) probably null Het
Golgb1 C T 16: 36,734,764 (GRCm39) T1378M possibly damaging Het
Hdac5 T C 11: 102,096,147 (GRCm39) N342S probably benign Het
Herc3 A G 6: 58,864,561 (GRCm39) K732E probably damaging Het
Lce1e A T 3: 92,615,269 (GRCm39) I26N unknown Het
Lingo1 T C 9: 56,528,106 (GRCm39) Y167C probably damaging Het
Loxl3 A G 6: 83,012,566 (GRCm39) E35G probably benign Het
Mmp13 A G 9: 7,282,089 (GRCm39) M464V possibly damaging Het
Mov10 T C 3: 104,711,690 (GRCm39) H199R probably benign Het
Nbas A G 12: 13,386,368 (GRCm39) T765A probably damaging Het
Nlgn3 C T X: 100,363,425 (GRCm39) R679* probably null Het
Nrp1 C T 8: 129,085,885 (GRCm39) probably benign Het
Nup88 C A 11: 70,860,687 (GRCm39) V31L probably benign Het
Or2r11 T C 6: 42,437,827 (GRCm39) N42S probably damaging Het
Or5d39 T C 2: 87,979,872 (GRCm39) T164A probably benign Het
Or7a36 A T 10: 78,820,212 (GRCm39) D196V probably benign Het
Pah A G 10: 87,414,827 (GRCm39) N393S probably benign Het
Rasgef1b A T 5: 99,524,994 (GRCm39) M55K probably benign Het
Ror2 T C 13: 53,264,302 (GRCm39) D930G possibly damaging Het
Rpgrip1l T G 8: 92,000,329 (GRCm39) M537L probably benign Het
Ryr2 A T 13: 11,702,875 (GRCm39) V2871E probably damaging Het
Smco1 A T 16: 32,092,841 (GRCm39) N171Y probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sox2 T A 3: 34,705,016 (GRCm39) L151Q probably benign Het
Spink5 A G 18: 44,143,305 (GRCm39) E754G probably benign Het
Sulf1 A T 1: 12,867,004 (GRCm39) M63L probably benign Het
Traf2 A G 2: 25,410,458 (GRCm39) M390T probably damaging Het
Trav13d-4 T C 14: 53,310,266 (GRCm39) V16A probably damaging Het
Trmo C T 4: 46,386,251 (GRCm39) W84* probably null Het
Trmo T C 4: 46,386,253 (GRCm39) probably null Het
Ttyh1 T A 7: 4,133,791 (GRCm39) probably benign Het
Ush2a A G 1: 188,643,220 (GRCm39) N4194S possibly damaging Het
Vmn2r45 T C 7: 8,486,511 (GRCm39) Y259C probably damaging Het
Vmn2r94 T A 17: 18,497,912 (GRCm39) probably benign Het
Zfp101 A G 17: 33,600,977 (GRCm39) S260P possibly damaging Het
Other mutations in Peli3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Peli3 APN 19 4,985,086 (GRCm39) missense probably damaging 0.99
IGL01608:Peli3 APN 19 4,982,855 (GRCm39) missense probably damaging 0.99
IGL03164:Peli3 APN 19 4,986,144 (GRCm39) critical splice donor site probably null
R0540:Peli3 UTSW 19 4,991,939 (GRCm39) start codon destroyed probably null 0.88
R0633:Peli3 UTSW 19 4,991,810 (GRCm39) missense probably damaging 1.00
R4241:Peli3 UTSW 19 4,982,426 (GRCm39) missense probably damaging 0.99
R4578:Peli3 UTSW 19 4,984,486 (GRCm39) missense probably benign 0.00
R4817:Peli3 UTSW 19 4,982,594 (GRCm39) missense probably damaging 1.00
R7360:Peli3 UTSW 19 4,985,103 (GRCm39) missense possibly damaging 0.95
R7718:Peli3 UTSW 19 4,984,584 (GRCm39) critical splice acceptor site probably null
R8553:Peli3 UTSW 19 4,984,960 (GRCm39) missense probably damaging 0.99
R8869:Peli3 UTSW 19 4,982,541 (GRCm39) missense probably damaging 1.00
R9259:Peli3 UTSW 19 4,984,486 (GRCm39) missense probably benign 0.00
R9292:Peli3 UTSW 19 4,988,117 (GRCm39) missense possibly damaging 0.82
R9765:Peli3 UTSW 19 4,991,850 (GRCm39) nonsense probably null
Z1176:Peli3 UTSW 19 4,984,995 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTCCAGGATGCAGCATCTC -3'
(R):5'- AGACTCTAGAGTTGTGCACTGTTC -3'

Sequencing Primer
(F):5'- AGGATGCAGCATCTCCCCAG -3'
(R):5'- GTGCACTGTTCTCTTTAGGACTAGC -3'
Posted On 2021-03-08