Incidental Mutation 'IGL02545:Klrb1b'
ID297783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrb1b
Ensembl Gene ENSMUSG00000079298
Gene Namekiller cell lectin-like receptor subfamily B member 1B
SynonymsNKR-P1B, NKR-P1D, Ly55d, Nkrp1d, Nkrp1-b, Klrb1d, Ly55b
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02545
Quality Score
Status
Chromosome6
Chromosomal Location128813706-128826331 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 128820309 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 72 (Q72R)
Ref Sequence ENSEMBL: ENSMUSP00000134637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032472] [ENSMUST00000172887] [ENSMUST00000174544] [ENSMUST00000204394] [ENSMUST00000204423] [ENSMUST00000204677] [ENSMUST00000204756] [ENSMUST00000205130]
Predicted Effect probably benign
Transcript: ENSMUST00000032472
AA Change: Q72R

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032472
Gene: ENSMUSG00000079298
AA Change: Q72R

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 2.04e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172887
AA Change: Q72R

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134637
Gene: ENSMUSG00000079298
AA Change: Q72R

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
PDB:3M9Z|A 89 138 1e-25 PDB
SCOP:d1e87a_ 94 137 2e-10 SMART
Blast:CLECT 94 138 2e-25 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174544
AA Change: Q39R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134022
Gene: ENSMUSG00000079298
AA Change: Q39R

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
PDB:3M9Z|A 56 97 8e-21 PDB
Blast:CLECT 61 97 1e-20 BLAST
SCOP:d1e87a_ 61 97 8e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204394
AA Change: Q72R

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: Q72R

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.5e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204423
AA Change: Q72R

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
AA Change: Q72R

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.7e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204677
AA Change: Q72R

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872
AA Change: Q72R

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
PDB:3M9Z|A 89 144 2e-30 PDB
SCOP:d1e87a_ 94 143 2e-12 SMART
Blast:CLECT 94 144 3e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000204756
AA Change: Q63R

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
AA Change: Q63R

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
CLECT 85 185 1e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205130
AA Change: Q72R

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144964
Gene: ENSMUSG00000079298
AA Change: Q72R

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 75 187 1.5e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal NK cell phsyiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 160,075,424 L88P probably damaging Het
Adamtsl4 G A 3: 95,683,374 Q354* probably null Het
Aox3 A C 1: 58,183,486 D1146A probably damaging Het
Ap2a1 T A 7: 44,906,426 H340L probably damaging Het
Ccni G T 5: 93,187,777 F167L probably benign Het
Ctcf A G 8: 105,664,381 T207A probably benign Het
D930020B18Rik A G 10: 121,689,933 H580R possibly damaging Het
Dock3 A T 9: 107,062,072 L159Q probably damaging Het
Dync1i2 T C 2: 71,262,751 I630T possibly damaging Het
Fchsd2 A G 7: 101,198,508 T202A probably benign Het
Gdi2 A G 13: 3,557,009 Y214C probably damaging Het
Gna14 T A 19: 16,533,726 S46R probably damaging Het
Hfm1 A G 5: 106,895,287 I627T probably damaging Het
Ighv1-19 G A 12: 114,708,739 A87V probably damaging Het
Itch G A 2: 155,172,586 probably null Het
Lrpprc A G 17: 84,775,425 F144L probably benign Het
Lrrc7 A G 3: 158,185,374 probably benign Het
Ndufa11 T A 17: 56,721,338 F72L probably damaging Het
Neu1 T A 17: 34,931,501 V32E probably benign Het
Olfr181 T A 16: 58,926,470 I34F possibly damaging Het
Osmr T C 15: 6,823,579 K611E probably damaging Het
Pcdh20 A G 14: 88,468,844 V340A possibly damaging Het
Pih1d3 A G 1: 31,223,096 D53G probably damaging Het
Plxna2 T A 1: 194,786,690 probably benign Het
Pou6f1 C T 15: 100,583,425 W210* probably null Het
Ppat A G 5: 76,915,232 Y511H probably damaging Het
Psme4 T G 11: 30,841,586 V1147G possibly damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sptb A G 12: 76,607,980 probably null Het
Tcl1b5 T A 12: 105,180,037 probably benign Het
Trim54 T A 5: 31,132,165 probably benign Het
Unc13c C T 9: 73,481,075 R2143Q probably damaging Het
Vmn1r56 A T 7: 5,196,114 V168D probably benign Het
Vmn2r66 A T 7: 85,006,590 M406K possibly damaging Het
Other mutations in Klrb1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02810:Klrb1b APN 6 128818467 splice site probably null
IGL02815:Klrb1b APN 6 128820974 missense probably damaging 1.00
IGL03162:Klrb1b APN 6 128818929 missense probably null 0.99
IGL03276:Klrb1b APN 6 128815205 missense probably benign 0.21
Posted On2015-04-16