Incidental Mutation 'R8124:Pilrb2'
ID 631639
Institutional Source Beutler Lab
Gene Symbol Pilrb2
Ensembl Gene ENSMUSG00000066682
Gene Name paired immunoglobin-like type 2 receptor beta 2
Synonyms EG545812
MMRRC Submission 067553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R8124 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137864089-137870077 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137869306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 98 (E98V)
Ref Sequence ENSEMBL: ENSMUSP00000131233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164886] [ENSMUST00000196162] [ENSMUST00000199773]
AlphaFold Q2YFS1
Predicted Effect probably damaging
Transcript: ENSMUST00000164886
AA Change: E98V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131233
Gene: ENSMUSG00000066682
AA Change: E98V

DomainStartEndE-ValueType
IG 45 156 2.38e0 SMART
Blast:IG_like 192 221 3e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000196162
AA Change: E98V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143064
Gene: ENSMUSG00000066682
AA Change: E98V

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 probably benign
Transcript: ENSMUST00000198024
Predicted Effect probably null
Transcript: ENSMUST00000199247
AA Change: E14V
Predicted Effect probably benign
Transcript: ENSMUST00000199773
SMART Domains Protein: ENSMUSP00000142492
Gene: ENSMUSG00000066682

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 94.5%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap3 T A 5: 24,683,128 (GRCm39) I320N probably benign Het
Ahnak G A 19: 8,984,487 (GRCm39) G1924S probably damaging Het
Ap2a2 G A 7: 141,178,757 (GRCm39) R141H probably benign Het
Atf7ip2 T C 16: 10,026,999 (GRCm39) V89A possibly damaging Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Csnk2a2 G A 8: 96,182,575 (GRCm39) P296L Het
Dab2 T A 15: 6,458,878 (GRCm39) C263* probably null Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Ddx60 C T 8: 62,436,945 (GRCm39) A965V probably benign Het
Dennd5a A T 7: 109,497,142 (GRCm39) I1119N probably damaging Het
Dpy30 A G 17: 74,623,099 (GRCm39) probably benign Het
Epg5 G A 18: 78,008,211 (GRCm39) A780T probably benign Het
Etl4 A G 2: 20,811,451 (GRCm39) D1546G probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
F13a1 T C 13: 37,209,779 (GRCm39) K62R probably damaging Het
Gm2832 T C 14: 41,000,894 (GRCm39) M44T Het
Gm9195 T C 14: 72,680,063 (GRCm39) I2249V probably benign Het
Hmcn2 T C 2: 31,290,136 (GRCm39) V2323A probably benign Het
Ice2 T A 9: 69,307,777 (GRCm39) N20K probably damaging Het
Klf15 T C 6: 90,443,863 (GRCm39) F146S probably damaging Het
Lgi3 A G 14: 70,772,178 (GRCm39) Y241C probably damaging Het
Lig4 A T 8: 10,022,954 (GRCm39) D275E probably damaging Het
Lrit1 T A 14: 36,784,005 (GRCm39) S444R probably benign Het
Lrrc37 A G 11: 103,511,257 (GRCm39) V237A unknown Het
Mip T C 10: 128,062,070 (GRCm39) V107A possibly damaging Het
Mtrex A C 13: 113,063,871 (GRCm39) D7E probably benign Het
Myo15a G A 11: 60,398,279 (GRCm39) V1581M Het
Nckap1l A G 15: 103,382,248 (GRCm39) D481G possibly damaging Het
Obox3 A T 7: 15,323,874 (GRCm39) probably null Het
Or11h4 C T 14: 50,973,743 (GRCm39) R292H probably benign Het
Or2d3 G A 7: 106,491,088 (GRCm39) T76I possibly damaging Het
Or5a21 T A 19: 12,310,834 (GRCm39) N129Y probably damaging Het
Or5p1 C A 7: 107,916,984 (GRCm39) N294K possibly damaging Het
Or8g27 T C 9: 39,128,967 (GRCm39) F105L probably benign Het
Plekhm1 A G 11: 103,257,775 (GRCm39) V1053A probably benign Het
Prdm2 A T 4: 142,861,835 (GRCm39) V485E probably damaging Het
Riox2 G A 16: 59,306,954 (GRCm39) E282K probably benign Het
Rps6ka2 T A 17: 7,549,228 (GRCm39) V379E possibly damaging Het
Slc4a7 G A 14: 14,729,211 (GRCm38) E20K possibly damaging Het
Sned1 G A 1: 93,210,711 (GRCm39) probably null Het
Spata3 C T 1: 85,952,075 (GRCm39) R110C unknown Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tent4a G A 13: 69,681,716 (GRCm39) probably benign Het
Tmem132d T C 5: 127,869,624 (GRCm39) Q570R probably damaging Het
Tmem87a T C 2: 120,222,676 (GRCm39) T168A probably benign Het
Trank1 A G 9: 111,207,995 (GRCm39) R1747G probably benign Het
Txk C T 5: 72,860,606 (GRCm39) probably null Het
Vcan T A 13: 89,852,373 (GRCm39) L862F possibly damaging Het
Wdr64 A T 1: 175,626,844 (GRCm39) probably null Het
Zfp106 G T 2: 120,354,812 (GRCm39) Q1343K probably benign Het
Zfp719 A G 7: 43,239,314 (GRCm39) T301A probably benign Het
Other mutations in Pilrb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Pilrb2 APN 5 137,865,125 (GRCm39) missense probably benign 0.09
R0220:Pilrb2 UTSW 5 137,869,459 (GRCm39) missense probably benign 0.00
R1126:Pilrb2 UTSW 5 137,869,222 (GRCm39) missense probably damaging 1.00
R1599:Pilrb2 UTSW 5 137,866,859 (GRCm39) missense possibly damaging 0.93
R1623:Pilrb2 UTSW 5 137,869,510 (GRCm39) missense probably damaging 1.00
R2438:Pilrb2 UTSW 5 137,869,175 (GRCm39) missense probably benign 0.00
R5343:Pilrb2 UTSW 5 137,869,228 (GRCm39) missense possibly damaging 0.77
R6792:Pilrb2 UTSW 5 137,866,852 (GRCm39) missense possibly damaging 0.76
R6974:Pilrb2 UTSW 5 137,870,049 (GRCm39) start gained probably benign
R7209:Pilrb2 UTSW 5 137,869,126 (GRCm39) critical splice donor site probably null
R9425:Pilrb2 UTSW 5 137,866,964 (GRCm39) missense probably benign 0.00
R9446:Pilrb2 UTSW 5 137,869,429 (GRCm39) missense possibly damaging 0.87
R9508:Pilrb2 UTSW 5 137,869,261 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GAGTTATGAAGCCTGAGGTGAC -3'
(R):5'- GTCAACCAACCTGAACGCTG -3'

Sequencing Primer
(F):5'- GACTCACCTTGTGTCAGGG -3'
(R):5'- AACCTGAACGCTGCTCTG -3'
Posted On 2020-06-30