Incidental Mutation 'R1126:Pilrb2'
ID96150
Institutional Source Beutler Lab
Gene Symbol Pilrb2
Ensembl Gene ENSMUSG00000066682
Gene Namepaired immunoglobin-like type 2 receptor beta 2
SynonymsEG545812
MMRRC Submission 039199-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #R1126 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location137865827-137871815 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 137870960 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 126 (D126G)
Ref Sequence ENSEMBL: ENSMUSP00000143064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164886] [ENSMUST00000196162] [ENSMUST00000199773]
Predicted Effect probably damaging
Transcript: ENSMUST00000164886
AA Change: D126G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131233
Gene: ENSMUSG00000066682
AA Change: D126G

DomainStartEndE-ValueType
IG 45 156 2.38e0 SMART
Blast:IG_like 192 221 3e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000196162
AA Change: D126G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143064
Gene: ENSMUSG00000066682
AA Change: D126G

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
IG 45 156 9.7e-3 SMART
Blast:IG_like 192 221 3e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197672
Predicted Effect probably benign
Transcript: ENSMUST00000198024
Predicted Effect unknown
Transcript: ENSMUST00000199247
AA Change: D42G
Predicted Effect probably benign
Transcript: ENSMUST00000199773
SMART Domains Protein: ENSMUSP00000142492
Gene: ENSMUSG00000066682

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200060
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 46,109,638 E1226G probably damaging Het
Arhgef40 G T 14: 51,997,126 S962I probably damaging Het
Atp9b A T 18: 80,778,954 M477K probably damaging Het
Enpp2 C T 15: 54,906,826 probably null Het
Ephb3 T A 16: 21,222,476 M727K possibly damaging Het
Exo5 A T 4: 120,922,125 I181N probably damaging Het
Fbn1 T C 2: 125,321,192 probably null Het
Gas6 T C 8: 13,483,700 N103S probably benign Het
Gm11596 A T 11: 99,792,873 C140* probably null Het
Il6st T C 13: 112,503,732 Y681H probably damaging Het
Itih4 T C 14: 30,889,961 probably null Het
Kdm5b C T 1: 134,613,991 A768V possibly damaging Het
Krt83 A T 15: 101,487,482 N336K probably damaging Het
Mfsd6 A G 1: 52,709,511 V65A probably benign Het
Nipsnap1 A G 11: 4,884,081 N90S probably benign Het
Nlrp9a C A 7: 26,560,741 D640E probably benign Het
Olfr137 A G 17: 38,304,688 C258R probably damaging Het
Olfr365 A T 2: 37,202,101 M287L probably benign Het
Olfr473 A C 7: 107,934,371 M284L possibly damaging Het
Olfr747 C T 14: 50,681,263 A124T possibly damaging Het
Parp9 G A 16: 35,947,740 V97I possibly damaging Het
Pdzd2 T C 15: 12,458,220 T12A possibly damaging Het
Penk T C 4: 4,138,119 T9A probably benign Het
Pkdrej A T 15: 85,816,314 V1807E probably damaging Het
Ppp1r9a A G 6: 4,906,795 E450G possibly damaging Het
Rag1 T C 2: 101,642,689 R703G probably damaging Het
Rem1 G A 2: 152,634,535 V238M probably damaging Het
Rmdn3 T C 2: 119,153,995 D92G probably benign Het
Rp1l1 G A 14: 64,030,469 G1168D probably damaging Het
Saxo1 T A 4: 86,478,987 T105S probably benign Het
Slc39a2 G A 14: 51,894,145 G58R probably damaging Het
Tbx6 C T 7: 126,784,719 T315I probably damaging Het
Tcf12 A G 9: 72,000,433 M99T probably benign Het
Tdrd3 A G 14: 87,480,774 D197G probably damaging Het
Tnc T C 4: 64,018,120 N193S probably damaging Het
Ttn A G 2: 76,850,003 probably benign Het
Vmn1r225 A G 17: 20,502,326 I10V probably benign Het
Zp3r A G 1: 130,618,342 L77P probably damaging Het
Other mutations in Pilrb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Pilrb2 APN 5 137866863 missense probably benign 0.09
R0220:Pilrb2 UTSW 5 137871197 missense probably benign 0.00
R1599:Pilrb2 UTSW 5 137868597 missense possibly damaging 0.93
R1623:Pilrb2 UTSW 5 137871248 missense probably damaging 1.00
R2438:Pilrb2 UTSW 5 137870913 missense probably benign 0.00
R5343:Pilrb2 UTSW 5 137870966 missense possibly damaging 0.77
R6792:Pilrb2 UTSW 5 137868590 missense possibly damaging 0.76
R6974:Pilrb2 UTSW 5 137871787 start gained probably benign
R7209:Pilrb2 UTSW 5 137870864 critical splice donor site probably null
R8124:Pilrb2 UTSW 5 137871044 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAACTACAAGGGAAGTGCTGTTGG -3'
(R):5'- CACAGATGAGCATAGCCTGGAGATG -3'

Sequencing Primer
(F):5'- CAGAGGTATGGGCAGTTCC -3'
(R):5'- ATGGAAGGATTTCTTTGGGCAC -3'
Posted On2014-01-05