Incidental Mutation 'IGL02319:Klra6'
ID 288153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klra6
Ensembl Gene ENSMUSG00000061769
Gene Name killer cell lectin-like receptor, subfamily A, member 6
Synonyms Ly49F, Ly49f
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL02319
Quality Score
Status
Chromosome 6
Chromosomal Location 129989996-130003917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130002177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 2 (S2R)
Ref Sequence ENSEMBL: ENSMUSP00000073700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074056]
AlphaFold Q60653
Predicted Effect probably damaging
Transcript: ENSMUST00000074056
AA Change: S2R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: S2R

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,784,611 (GRCm39) Y537C probably damaging Het
Ambra1 A G 2: 91,717,265 (GRCm39) H854R probably damaging Het
Atf7ip A G 6: 136,570,116 (GRCm39) N981S probably benign Het
Atp6v1d A G 12: 78,908,230 (GRCm39) S2P probably damaging Het
Cd59a A T 2: 103,944,373 (GRCm39) I74F possibly damaging Het
Chek2 T C 5: 111,014,877 (GRCm39) Y449H possibly damaging Het
Ctif C T 18: 75,654,944 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,526,946 (GRCm39) E403G probably damaging Het
Dock1 T G 7: 134,374,178 (GRCm39) V608G possibly damaging Het
Fcf1 T C 12: 85,017,982 (GRCm39) probably null Het
Fgf17 T G 14: 70,874,183 (GRCm39) Q202P possibly damaging Het
Hnrnpm A T 17: 33,868,924 (GRCm39) L501Q probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Krtap19-9b T A 16: 88,729,002 (GRCm39) Y33F unknown Het
Lpcat4 G A 2: 112,074,229 (GRCm39) V264M probably damaging Het
Lyzl6 T C 11: 103,525,862 (GRCm39) Y86C probably damaging Het
Myo18b T C 5: 112,939,005 (GRCm39) K1669E probably damaging Het
Nbea A G 3: 55,893,159 (GRCm39) V1558A probably damaging Het
Or51a42 A G 7: 103,708,140 (GRCm39) I223T probably damaging Het
Or51l14 G A 7: 103,101,474 (GRCm39) C310Y probably benign Het
Or5b105 A G 19: 13,080,026 (GRCm39) I214T probably benign Het
Or8b47 T A 9: 38,435,166 (GRCm39) I46N probably damaging Het
Pex11b T C 3: 96,550,885 (GRCm39) probably benign Het
Rbm5 A T 9: 107,621,064 (GRCm39) L689* probably null Het
Rd3 G T 1: 191,715,452 (GRCm39) G76C probably null Het
Rgs16 A T 1: 153,617,852 (GRCm39) I121F probably damaging Het
Tmem30a A T 9: 79,681,485 (GRCm39) M264K probably damaging Het
Traf2 T C 2: 25,426,695 (GRCm39) E127G probably damaging Het
Trmt11 A T 10: 30,436,869 (GRCm39) D290E probably damaging Het
Wdr35 C A 12: 9,077,480 (GRCm39) probably benign Het
Wnk2 A G 13: 49,214,914 (GRCm39) S1211P possibly damaging Het
Other mutations in Klra6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Klra6 APN 6 130,000,663 (GRCm39) missense possibly damaging 0.77
IGL02037:Klra6 APN 6 129,990,439 (GRCm39) missense probably benign 0.02
IGL02427:Klra6 APN 6 129,993,680 (GRCm39) missense possibly damaging 0.54
IGL02730:Klra6 APN 6 129,999,660 (GRCm39) missense probably benign
IGL02822:Klra6 APN 6 129,993,673 (GRCm39) nonsense probably null
R0485:Klra6 UTSW 6 130,000,601 (GRCm39) missense probably benign 0.12
R0697:Klra6 UTSW 6 129,993,687 (GRCm39) missense probably benign 0.18
R0731:Klra6 UTSW 6 129,999,668 (GRCm39) missense probably damaging 1.00
R1081:Klra6 UTSW 6 129,999,588 (GRCm39) missense probably damaging 0.96
R1708:Klra6 UTSW 6 129,999,677 (GRCm39) nonsense probably null
R1749:Klra6 UTSW 6 129,995,915 (GRCm39) missense probably damaging 1.00
R1842:Klra6 UTSW 6 129,999,573 (GRCm39) missense probably benign 0.14
R1944:Klra6 UTSW 6 129,995,908 (GRCm39) missense possibly damaging 0.92
R4214:Klra6 UTSW 6 129,995,885 (GRCm39) missense probably benign 0.10
R5210:Klra6 UTSW 6 129,995,855 (GRCm39) nonsense probably null
R5286:Klra6 UTSW 6 129,995,932 (GRCm39) missense probably benign 0.02
R5418:Klra6 UTSW 6 129,990,393 (GRCm39) missense probably damaging 0.96
R5764:Klra6 UTSW 6 129,999,692 (GRCm39) missense possibly damaging 0.92
R6193:Klra6 UTSW 6 129,995,881 (GRCm39) missense probably benign 0.12
R6536:Klra6 UTSW 6 130,000,682 (GRCm39) missense probably benign 0.07
R6696:Klra6 UTSW 6 129,993,696 (GRCm39) missense probably benign
R7021:Klra6 UTSW 6 129,995,821 (GRCm39) missense possibly damaging 0.93
R7718:Klra6 UTSW 6 129,990,315 (GRCm39) frame shift probably null
R8500:Klra6 UTSW 6 129,999,660 (GRCm39) missense probably benign
R8910:Klra6 UTSW 6 129,993,647 (GRCm39) missense probably benign
R8983:Klra6 UTSW 6 129,999,573 (GRCm39) missense probably benign 0.14
R9164:Klra6 UTSW 6 129,993,687 (GRCm39) missense possibly damaging 0.95
R9775:Klra6 UTSW 6 129,999,639 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16