Incidental Mutation 'R7685:Peli2'
ID 593031
Institutional Source Beutler Lab
Gene Symbol Peli2
Ensembl Gene ENSMUSG00000021846
Gene Name pellino 2
Synonyms
MMRRC Submission 045750-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R7685 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 48358280-48519032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 48517491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 186 (C186F)
Ref Sequence ENSEMBL: ENSMUSP00000154661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000227362]
AlphaFold no structure available at present
Predicted Effect not run
Transcript: ENSMUST00000227362
AA Change: C186F
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,116,081 (GRCm39) L251S probably damaging Het
Acsbg1 C T 9: 54,535,843 (GRCm39) S53N unknown Het
Adamts18 A G 8: 114,439,855 (GRCm39) C913R probably damaging Het
Adck5 C A 15: 76,479,588 (GRCm39) Y524* probably null Het
Adgrv1 G T 13: 81,251,443 (GRCm39) Q6225K possibly damaging Het
Ahr T C 12: 35,554,016 (GRCm39) N701S probably damaging Het
Apc T C 18: 34,447,261 (GRCm39) C1386R probably damaging Het
Bbs1 A G 19: 4,956,182 (GRCm39) S38P probably benign Het
Celsr1 G T 15: 85,862,933 (GRCm39) C1366* probably null Het
Cep290 A C 10: 100,375,919 (GRCm39) H1424P probably benign Het
Clcn3 C T 8: 61,386,119 (GRCm39) R311K possibly damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Dhx9 A G 1: 153,334,152 (GRCm39) Y1002H probably damaging Het
Dnah8 C T 17: 30,876,947 (GRCm39) T533I probably damaging Het
Ermard T C 17: 15,279,724 (GRCm39) S505P probably benign Het
Fbxw17 G A 13: 50,579,680 (GRCm39) D166N probably damaging Het
Fmo3 T C 1: 162,785,901 (GRCm39) K363R possibly damaging Het
Frey1 C A 2: 92,213,817 (GRCm39) P68Q probably damaging Het
Gadd45gip1 A T 8: 85,558,980 (GRCm39) R21W probably damaging Het
Galnt4 A G 10: 98,945,826 (GRCm39) N517S probably benign Het
Ganc T A 2: 120,264,273 (GRCm39) W409R probably damaging Het
Glrx3 T C 7: 137,060,920 (GRCm39) S185P probably damaging Het
Gm49368 T C 7: 127,712,414 (GRCm39) S853P probably damaging Het
Gtf3c2 A C 5: 31,325,611 (GRCm39) L443V probably damaging Het
Gxylt2 A T 6: 100,781,489 (GRCm39) Q388L probably benign Het
Hcar2 C T 5: 124,003,396 (GRCm39) V36M possibly damaging Het
Ifit3b A T 19: 34,589,955 (GRCm39) D377V possibly damaging Het
Ints5 A G 19: 8,874,168 (GRCm39) D709G probably benign Het
Lyst A G 13: 13,844,450 (GRCm39) E1880G probably benign Het
Mep1a C T 17: 43,790,065 (GRCm39) S428N probably benign Het
Mllt6 T C 11: 97,567,790 (GRCm39) L739P probably damaging Het
Mlst8 T C 17: 24,695,031 (GRCm39) Y284C probably damaging Het
Mmel1 T C 4: 154,956,111 (GRCm39) M1T probably null Het
Muc5ac C T 7: 141,363,120 (GRCm39) P2144S unknown Het
Myh4 T C 11: 67,131,756 (GRCm39) V72A probably benign Het
Naa15 T A 3: 51,377,395 (GRCm39) probably null Het
Nlrc5 A G 8: 95,248,028 (GRCm39) probably null Het
Nme8 T A 13: 19,835,145 (GRCm39) M514L probably benign Het
Nudt9 C A 5: 104,194,946 (GRCm39) S14* probably null Het
Optn G A 2: 5,059,461 (GRCm39) T19I probably benign Het
Or11h23 A T 14: 50,948,215 (GRCm39) I143F possibly damaging Het
Or13a24 T C 7: 140,154,159 (GRCm39) F31S probably damaging Het
Osbpl8 T A 10: 111,112,370 (GRCm39) L495* probably null Het
Panx2 T C 15: 88,951,973 (GRCm39) S147P possibly damaging Het
Pclo T A 5: 14,730,630 (GRCm39) V3044D unknown Het
Pcnt T C 10: 76,258,642 (GRCm39) K608E probably benign Het
Pde7a T A 3: 19,281,909 (GRCm39) N447I probably damaging Het
Pgm5 A G 19: 24,705,215 (GRCm39) F433L probably benign Het
Plce1 G A 19: 38,736,877 (GRCm39) V1588I probably benign Het
Plin4 T A 17: 56,409,413 (GRCm39) H1295L probably benign Het
Poli T C 18: 70,658,590 (GRCm39) E134G probably benign Het
Pramel11 T A 4: 143,624,371 (GRCm39) D42V probably benign Het
Ptprq T A 10: 107,479,839 (GRCm39) I1144F probably damaging Het
Ptprz1 A T 6: 23,024,977 (GRCm39) T1738S probably damaging Het
Pxdc1 A G 13: 34,836,267 (GRCm39) L51P probably damaging Het
Rabepk C T 2: 34,669,308 (GRCm39) G362S probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rhd T A 4: 134,611,820 (GRCm39) probably null Het
Rpp14 T C 14: 8,090,453 (GRCm38) S126P probably damaging Het
Scn7a C T 2: 66,506,536 (GRCm39) C1451Y probably damaging Het
Sdr39u1 G A 14: 56,135,191 (GRCm39) R251* probably null Het
Sephs2 G T 7: 126,872,506 (GRCm39) P196T possibly damaging Het
Slc22a16 T C 10: 40,450,085 (GRCm39) Y195H possibly damaging Het
Spg11 C A 2: 121,899,361 (GRCm39) V1575F probably damaging Het
Sqle C T 15: 59,187,890 (GRCm39) S66L probably benign Het
Tas2r124 T G 6: 132,732,056 (GRCm39) W122G probably damaging Het
Tex52 A T 6: 128,361,921 (GRCm39) probably null Het
Thoc1 T A 18: 9,993,454 (GRCm39) C604* probably null Het
Tmc3 T C 7: 83,246,666 (GRCm39) S136P probably damaging Het
Tmem212 T A 3: 27,950,462 (GRCm39) T11S probably benign Het
Ubn2 A G 6: 38,468,727 (GRCm39) N1147S probably benign Het
Uggt2 A G 14: 119,312,759 (GRCm39) I350T probably damaging Het
Ust A T 10: 8,083,339 (GRCm39) Y346N probably damaging Het
Vwa8 A G 14: 79,335,740 (GRCm39) T1399A probably benign Het
Zc3h18 G A 8: 123,140,615 (GRCm39) R850Q unknown Het
Zfp800 C A 6: 28,244,193 (GRCm39) K257N probably damaging Het
Zfp985 T A 4: 147,667,331 (GRCm39) D66E 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
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
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
Predicted Primers
Posted On 2019-11-12