Incidental Mutation 'IGL02959:Peli2'
ID 365283
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: 0.083) question?
Stock # IGL02959
Quality Score
Status
Chromosome 14
Chromosomal Location 48358280-48519032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48477754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 99 (T99S)
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: T99S

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: T99S

DomainStartEndE-ValueType
Pfam:Pellino 10 419 1.2e-223 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226260
Predicted Effect probably benign
Transcript: ENSMUST00000226828
Predicted Effect probably benign
Transcript: ENSMUST00000227362
AA Change: T48S

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228519
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,544,023 (GRCm39) A506D probably benign Het
Agap1 G T 1: 89,770,913 (GRCm39) V635L possibly damaging Het
Akr1c12 T C 13: 4,329,331 (GRCm39) K9E probably benign Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Atm T C 9: 53,382,718 (GRCm39) H1957R probably damaging Het
Bcr T C 10: 74,996,222 (GRCm39) F922S probably benign Het
Cfap44 T A 16: 44,291,230 (GRCm39) probably benign Het
Chil5 A G 3: 105,926,906 (GRCm39) V243A probably damaging Het
Csmd1 A G 8: 15,960,465 (GRCm39) C3317R probably damaging Het
Dsc1 T C 18: 20,241,942 (GRCm39) K133R probably damaging Het
Ecm1 T A 3: 95,644,989 (GRCm39) Q136L probably damaging Het
Fscn3 C A 6: 28,435,997 (GRCm39) A431E possibly damaging Het
Gas7 C T 11: 67,565,061 (GRCm39) probably benign Het
Gbx2 A G 1: 89,856,517 (GRCm39) V291A probably damaging Het
Hipk3 G A 2: 104,301,604 (GRCm39) T196M probably damaging Het
Il20ra T A 10: 19,634,789 (GRCm39) N343K probably benign Het
Il24 C T 1: 130,813,470 (GRCm39) W42* probably null Het
Kif13b A T 14: 65,005,166 (GRCm39) I1153F probably damaging Het
Krt1c A T 15: 101,719,763 (GRCm39) S636T unknown Het
Or11g24 A T 14: 50,662,389 (GRCm39) M138L possibly damaging Het
Or13a25 C T 7: 140,247,463 (GRCm39) P81S probably damaging Het
Or14c40 T C 7: 86,313,737 (GRCm39) F289S probably damaging Het
Or4k52 T A 2: 111,610,955 (GRCm39) C97S probably damaging Het
Or6d15 A T 6: 116,559,505 (GRCm39) M134K probably damaging Het
Osmr T C 15: 6,845,378 (GRCm39) D796G possibly damaging Het
Pi4k2a A T 19: 42,101,510 (GRCm39) K317N probably benign Het
Pik3r1 T G 13: 101,894,037 (GRCm39) D44A probably benign Het
Pkhd1 G T 1: 20,678,640 (GRCm39) S96* probably null Het
Plekha5 A G 6: 140,489,904 (GRCm39) E9G probably damaging Het
Plekha8 T C 6: 54,592,254 (GRCm39) F71S probably damaging Het
Polq G T 16: 36,906,928 (GRCm39) L2296F probably damaging Het
Rbm5 G A 9: 107,631,384 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,295,366 (GRCm39) K217E probably damaging Het
Scrib A G 15: 75,937,056 (GRCm39) L350P probably damaging Het
Slc4a10 T A 2: 62,098,487 (GRCm39) S540R probably damaging Het
Smc3 G T 19: 53,611,988 (GRCm39) V354L probably benign Het
Smurf1 T A 5: 144,836,199 (GRCm39) I105F probably damaging Het
Stx7 G T 10: 24,031,247 (GRCm39) R17L probably benign Het
Tbca C T 13: 94,979,203 (GRCm39) R74C probably benign Het
Tmem92 T C 11: 94,669,504 (GRCm39) Q153R possibly damaging Het
Trim41 C A 11: 48,698,307 (GRCm39) G553V probably damaging Het
Trim75 A T 8: 65,435,417 (GRCm39) N344K possibly damaging Het
Tsr1 A G 11: 74,791,075 (GRCm39) D218G probably benign Het
Ubr2 A C 17: 47,286,877 (GRCm39) V474G probably damaging Het
Unc45a T G 7: 79,982,721 (GRCm39) probably benign Het
Zfp609 C T 9: 65,610,675 (GRCm39) A763T probably benign 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
IGL01810:Peli2 APN 14 48,493,491 (GRCm39) missense probably benign 0.00
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
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 2015-12-18