Incidental Mutation 'IGL02989:Pilrb1'
ID 406857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pilrb1
Ensembl Gene ENSMUSG00000066684
Gene Name paired immunoglobin-like type 2 receptor beta 1
Synonyms Pilrb, Fdact
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL02989
Quality Score
Status
Chromosome 5
Chromosomal Location 137850409-137856368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 137855492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 133 (R133L)
Ref Sequence ENSEMBL: ENSMUSP00000143379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110978] [ENSMUST00000196195] [ENSMUST00000199387]
AlphaFold Q2YFS2
Predicted Effect possibly damaging
Transcript: ENSMUST00000110978
AA Change: R133L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106606
Gene: ENSMUSG00000066684
AA Change: R133L

DomainStartEndE-ValueType
Blast:IG 45 156 3e-68 BLAST
Blast:IG_like 192 221 7e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000196195
SMART Domains Protein: ENSMUSP00000143777
Gene: ENSMUSG00000066684

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197403
Predicted Effect probably benign
Transcript: ENSMUST00000197914
Predicted Effect unknown
Transcript: ENSMUST00000198703
AA Change: R49L
Predicted Effect possibly damaging
Transcript: ENSMUST00000199387
AA Change: R133L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143379
Gene: ENSMUSG00000066684
AA Change: R133L

DomainStartEndE-ValueType
Blast:IG 45 156 4e-68 BLAST
Blast:IG_like 192 221 8e-6 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptiblity to bacterial infection with S. aureus with decreased worm burden and mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 T A 19: 20,617,422 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,670,748 (GRCm39) D44G probably damaging Het
Arhgap35 A T 7: 16,231,580 (GRCm39) *1500R probably null Het
Arid1b A G 17: 5,385,322 (GRCm39) Y1413C probably damaging Het
Atf6 A G 1: 170,616,252 (GRCm39) probably benign Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Cat A G 2: 103,303,318 (GRCm39) F153S probably damaging Het
Ccdc187 G A 2: 26,166,443 (GRCm39) R712W possibly damaging Het
Clpb T C 7: 101,428,427 (GRCm39) S396P probably damaging Het
Cntnap5a A G 1: 116,339,813 (GRCm39) probably benign Het
Dap3 G A 3: 88,837,878 (GRCm39) probably benign Het
Dnah6 T A 6: 73,046,403 (GRCm39) D3195V probably damaging Het
Eprs1 T G 1: 185,150,563 (GRCm39) F1355C probably benign Het
Faim2 A G 15: 99,418,243 (GRCm39) probably benign Het
Fancg A G 4: 43,007,121 (GRCm39) probably benign Het
Fbxo42 T A 4: 140,926,845 (GRCm39) I375N probably damaging Het
Gabrr3 A T 16: 59,268,371 (GRCm39) D328V probably damaging Het
Gm5849 T A 3: 90,685,107 (GRCm39) D26V probably damaging Het
Gm6563 T C 19: 23,653,234 (GRCm39) L8P possibly damaging Het
Gpld1 A G 13: 25,174,019 (GRCm39) N815D possibly damaging Het
Hrob A G 11: 102,146,125 (GRCm39) I134V probably benign Het
Idh2 T A 7: 79,748,856 (GRCm39) I142F probably damaging Het
Kcnh7 A C 2: 62,552,269 (GRCm39) N907K probably benign Het
Mcm3ap A G 10: 76,306,894 (GRCm39) T336A possibly damaging Het
Or4c15 A T 2: 88,760,048 (GRCm39) S204T possibly damaging Het
Or52i2 T C 7: 102,319,651 (GRCm39) S175P possibly damaging Het
Or5b3 C A 19: 13,388,850 (GRCm39) Q306K probably benign Het
Pitpnm3 C A 11: 72,011,012 (GRCm39) probably benign Het
Prkdc C T 16: 15,617,880 (GRCm39) T3237I possibly damaging Het
Pspc1 A G 14: 57,009,153 (GRCm39) probably benign Het
Rasgrp4 G A 7: 28,847,831 (GRCm39) E414K probably damaging Het
Rgs12 T A 5: 35,122,463 (GRCm39) L82Q probably damaging Het
Sh3gl3 T C 7: 81,923,087 (GRCm39) V117A probably benign Het
Shisa5 G A 9: 108,885,062 (GRCm39) A112T probably damaging Het
Tasor2 A T 13: 3,634,820 (GRCm39) H662Q probably benign Het
Tedc1 A G 12: 113,126,941 (GRCm39) E401G probably benign Het
Tsc22d1 T C 14: 76,656,341 (GRCm39) M940T probably benign Het
Vmn1r129 A T 7: 21,094,663 (GRCm39) V185E probably damaging Het
Zfp982 C A 4: 147,597,052 (GRCm39) D136E possibly damaging Het
Other mutations in Pilrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02717:Pilrb1 APN 5 137,856,213 (GRCm39) utr 5 prime probably benign
IGL03191:Pilrb1 APN 5 137,853,227 (GRCm39) missense probably damaging 1.00
R0320:Pilrb1 UTSW 5 137,853,260 (GRCm39) missense probably benign 0.04
R2048:Pilrb1 UTSW 5 137,853,153 (GRCm39) missense possibly damaging 0.53
R3113:Pilrb1 UTSW 5 137,853,195 (GRCm39) missense possibly damaging 0.95
R3946:Pilrb1 UTSW 5 137,855,654 (GRCm39) missense probably benign 0.40
R4768:Pilrb1 UTSW 5 137,855,788 (GRCm39) unclassified probably benign
R5252:Pilrb1 UTSW 5 137,853,315 (GRCm39) missense probably benign 0.00
R5334:Pilrb1 UTSW 5 137,853,165 (GRCm39) missense probably benign 0.00
R6658:Pilrb1 UTSW 5 137,855,789 (GRCm39) missense probably benign 0.01
R9179:Pilrb1 UTSW 5 137,855,657 (GRCm39) missense probably damaging 1.00
R9421:Pilrb1 UTSW 5 137,853,296 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02