Incidental Mutation 'R5252:Pilrb1'
ID 399102
Institutional Source Beutler Lab
Gene Symbol Pilrb1
Ensembl Gene ENSMUSG00000066684
Gene Name paired immunoglobin-like type 2 receptor beta 1
Synonyms Pilrb, Fdact
MMRRC Submission 042823-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R5252 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 137850409-137856368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137853315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 163 (M163L)
Ref Sequence ENSEMBL: ENSMUSP00000143379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110978] [ENSMUST00000196195] [ENSMUST00000199387]
AlphaFold Q2YFS2
Predicted Effect probably benign
Transcript: ENSMUST00000110978
AA Change: M163L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106606
Gene: ENSMUSG00000066684
AA Change: M163L

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 probably benign
Transcript: ENSMUST00000198703
Predicted Effect probably benign
Transcript: ENSMUST00000199387
AA Change: M163L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143379
Gene: ENSMUSG00000066684
AA Change: M163L

DomainStartEndE-ValueType
Blast:IG 45 156 4e-68 BLAST
Blast:IG_like 192 221 8e-6 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,056,762 (GRCm39) R386L probably damaging Het
Ano8 A T 8: 71,935,261 (GRCm39) Y346N probably damaging Het
Cabp4 T C 19: 4,186,067 (GRCm39) probably benign Het
Canx A T 11: 50,199,621 (GRCm39) I148N probably damaging Het
Ccdc141 A G 2: 76,962,593 (GRCm39) V117A probably benign Het
Cdk12 A T 11: 98,134,335 (GRCm39) N1078Y unknown Het
Cdk7 T A 13: 100,866,968 (GRCm39) K42* probably null Het
Col6a5 T C 9: 105,817,489 (GRCm39) D274G unknown Het
Cux1 T C 5: 136,337,151 (GRCm39) E696G probably damaging Het
Cxxc1 C T 18: 74,353,022 (GRCm39) A444V probably benign Het
Dll1 T C 17: 15,588,951 (GRCm39) K575E probably damaging Het
Dnah11 A G 12: 118,089,676 (GRCm39) F1130S probably damaging Het
Dnah2 A G 11: 69,420,295 (GRCm39) F140L probably damaging Het
Dysf T C 6: 84,163,450 (GRCm39) V1625A probably damaging Het
Evi5 T C 5: 107,943,618 (GRCm39) T592A probably benign Het
Fas T C 19: 34,294,043 (GRCm39) S133P probably damaging Het
Gpr139 A G 7: 118,744,427 (GRCm39) S53P probably benign Het
H2-Q4 T C 17: 35,599,411 (GRCm39) F165L probably benign Het
Ighv9-2 A G 12: 114,072,838 (GRCm39) V45A probably benign Het
Inpp1 T G 1: 52,833,706 (GRCm39) D130A probably benign Het
Lin54 C T 5: 100,628,063 (GRCm39) V47I probably benign Het
Nav3 TGAAGAAGAAGAAGA TGAAGAAGAAGA 10: 109,550,152 (GRCm39) probably benign Het
Nexn T C 3: 151,943,590 (GRCm39) T438A probably benign Het
Or4c112 A T 2: 88,853,598 (GRCm39) F250I probably damaging Het
Or8g4 T G 9: 39,661,784 (GRCm39) I34S probably damaging Het
Pkhd1 A T 1: 20,420,635 (GRCm39) probably null Het
Ppard G A 17: 28,517,822 (GRCm39) V297I probably benign Het
Rabgap1 T C 2: 37,365,369 (GRCm39) V214A probably benign Het
Serpinc1 T C 1: 160,817,191 (GRCm39) F95S probably damaging Het
Slc5a8 T C 10: 88,742,209 (GRCm39) Y302H probably damaging Het
Slco4a1 G A 2: 180,106,252 (GRCm39) A145T possibly damaging Het
Spata31g1 T A 4: 42,971,706 (GRCm39) F346L probably benign Het
Sptlc2 A T 12: 87,382,829 (GRCm39) M425K possibly damaging Het
Tent5c A G 3: 100,380,024 (GRCm39) L244P probably damaging Het
Trp53bp1 A G 2: 121,074,464 (GRCm39) S429P probably benign Het
Unc13a T A 8: 72,105,208 (GRCm39) T723S probably damaging Het
Ush2a A T 1: 188,553,914 (GRCm39) I3468F possibly damaging Het
Utp20 A T 10: 88,586,532 (GRCm39) D2547E probably benign Het
Wnk4 A G 11: 101,159,574 (GRCm39) D593G possibly damaging Het
Zfyve26 A G 12: 79,315,756 (GRCm39) L1240P probably damaging Het
Other mutations in Pilrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02717:Pilrb1 APN 5 137,856,213 (GRCm39) utr 5 prime probably benign
IGL02989:Pilrb1 APN 5 137,855,492 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- TTCCACAGCTGAGAACACTC -3'
(R):5'- CTGTGCATTTGAGCTTGCTC -3'

Sequencing Primer
(F):5'- AGGCCTGTCCTTTACCCATTAC -3'
(R):5'- GCATTTGAGCTTGCTCTTCTAGAGTC -3'
Posted On 2016-07-06