Incidental Mutation 'IGL00861:Klra6'
ID11672
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klra6
Ensembl Gene ENSMUSG00000061769
Gene Namekiller cell lectin-like receptor, subfamily A, member 6
SynonymsLy49F, Ly49f
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL00861
Quality Score
Status
Chromosome6
Chromosomal Location130013033-130026954 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130023700 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 47 (V47A)
Ref Sequence ENSEMBL: ENSMUSP00000073700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074056]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074056
AA Change: V47A

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: V47A

DomainStartEndE-ValueType
Blast:CLECT 73 123 3e-9 BLAST
CLECT 143 258 8.42e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the highly polymorphic family of C-type lectin-like Ly49 genes that are expressed in natural killer (NK) cells. The encoded protein is a homodimeric type II transmembrane receptor located at the cell surface and inhibits NK cell activation upon ligand binding. This gene is located in a cluster of several Klra paralogs on chromosome 6. Different strains of mice show variation in the number of paralogs, including strain specific duplications, deletions and pseudogene sequences. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 G A 15: 89,323,285 probably benign Het
Ambra1 T A 2: 91,770,926 D189E possibly damaging Het
Atg16l1 G A 1: 87,774,838 G274S probably damaging Het
Cdh7 C A 1: 110,060,988 probably benign Het
Chat T C 14: 32,449,023 Y173C probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Ctnnd1 T C 2: 84,603,752 D874G probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Depdc5 T C 5: 32,967,814 probably null Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Glmn A T 5: 107,570,139 M304K possibly damaging Het
Lgi2 T C 5: 52,538,121 K491E probably benign Het
Lrrc72 T A 12: 36,221,508 Q138L probably benign Het
Nxph2 T A 2: 23,399,962 F109I probably damaging Het
Oosp3 A G 19: 11,711,640 D84G probably benign Het
Pdzd3 A G 9: 44,249,636 L211P possibly damaging Het
Poc1b C T 10: 99,129,652 R106C probably benign Het
Ptk2 A G 15: 73,262,547 S568P probably damaging Het
Slc4a5 A G 6: 83,299,471 I1093V probably benign Het
Snx2 G A 18: 53,210,797 probably null Het
Washc5 G T 15: 59,337,276 T1033K probably damaging Het
Other mutations in Klra6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02037:Klra6 APN 6 130013476 missense probably benign 0.02
IGL02319:Klra6 APN 6 130025214 missense probably damaging 0.98
IGL02427:Klra6 APN 6 130016717 missense possibly damaging 0.54
IGL02730:Klra6 APN 6 130022697 missense probably benign
IGL02822:Klra6 APN 6 130016710 nonsense probably null
R0485:Klra6 UTSW 6 130023638 missense probably benign 0.12
R0697:Klra6 UTSW 6 130016724 missense probably benign 0.18
R0731:Klra6 UTSW 6 130022705 missense probably damaging 1.00
R1081:Klra6 UTSW 6 130022625 missense probably damaging 0.96
R1708:Klra6 UTSW 6 130022714 nonsense probably null
R1749:Klra6 UTSW 6 130018952 missense probably damaging 1.00
R1842:Klra6 UTSW 6 130022610 missense probably benign 0.14
R1944:Klra6 UTSW 6 130018945 missense possibly damaging 0.92
R4214:Klra6 UTSW 6 130018922 missense probably benign 0.10
R5210:Klra6 UTSW 6 130018892 nonsense probably null
R5286:Klra6 UTSW 6 130018969 missense probably benign 0.02
R5418:Klra6 UTSW 6 130013430 missense probably damaging 0.96
R5764:Klra6 UTSW 6 130022729 missense possibly damaging 0.92
R6193:Klra6 UTSW 6 130018918 missense probably benign 0.12
R6536:Klra6 UTSW 6 130023719 missense probably benign 0.07
R6696:Klra6 UTSW 6 130016733 missense probably benign
R7021:Klra6 UTSW 6 130018858 missense possibly damaging 0.93
R7718:Klra6 UTSW 6 130013352 frame shift probably null
R8500:Klra6 UTSW 6 130022697 missense probably benign
Posted On2012-12-06