Incidental Mutation 'IGL02037:Klra6'
ID 184536
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 # IGL02037
Quality Score
Status
Chromosome 6
Chromosomal Location 129989996-130003917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 129990439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 224 (M224R)
Ref Sequence ENSEMBL: ENSMUSP00000073700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074056]
AlphaFold Q60653
Predicted Effect probably benign
Transcript: ENSMUST00000074056
AA Change: M224R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: M224R

DomainStartEndE-ValueType
Blast:CLECT 73 123 3e-9 BLAST
CLECT 143 258 8.42e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157801
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T A 6: 92,804,997 (GRCm39) probably benign Het
Ace2 T A X: 162,946,996 (GRCm39) V293D probably damaging Het
Adgrg6 T C 10: 14,317,185 (GRCm39) Y545C probably damaging Het
Arhgap40 A G 2: 158,376,742 (GRCm39) T293A probably damaging Het
Arhgef19 A G 4: 140,973,707 (GRCm39) T65A probably damaging Het
Brf1 A G 12: 112,956,682 (GRCm39) probably null Het
Cbfb T C 8: 105,905,252 (GRCm39) S65P possibly damaging Het
Chsy1 T C 7: 65,821,576 (GRCm39) S604P possibly damaging Het
Ckmt1 T C 2: 121,191,643 (GRCm39) V271A probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,371,263 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,038,559 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,007 (GRCm39) T492A probably benign Het
Fam3a G A X: 73,430,241 (GRCm39) T156I probably damaging Het
Fbn2 A T 18: 58,229,087 (GRCm39) C708S probably damaging Het
Fgf5 G A 5: 98,409,831 (GRCm39) G127R probably damaging Het
Fhip1a T G 3: 85,637,939 (GRCm39) K120T probably damaging Het
Fn3k A T 11: 121,325,909 (GRCm39) Y32F probably benign Het
Frem3 T C 8: 81,338,118 (GRCm39) I137T probably benign Het
Hc T C 2: 34,903,531 (GRCm39) D1041G probably benign Het
Heatr6 T A 11: 83,655,708 (GRCm39) probably benign Het
Hivep1 G A 13: 42,309,553 (GRCm39) A598T probably benign Het
Ifngr1 T C 10: 19,483,007 (GRCm39) S254P probably benign Het
Kel T C 6: 41,674,408 (GRCm39) S341G probably benign Het
Mis18bp1 A G 12: 65,183,522 (GRCm39) probably null Het
Mpeg1 C T 19: 12,440,660 (GRCm39) T706I probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Or5al7 G T 2: 85,993,181 (GRCm39) F37L probably benign Het
Palld T C 8: 61,978,148 (GRCm39) R881G probably damaging Het
Pdha2 A T 3: 140,916,662 (GRCm39) V282E probably damaging Het
Pga5 C T 19: 10,654,065 (GRCm39) R46Q probably benign Het
Plekhg2 T C 7: 28,068,122 (GRCm39) Y189C probably damaging Het
Rnf43 A G 11: 87,622,479 (GRCm39) T527A probably benign Het
Rplp0 G A 5: 115,699,174 (GRCm39) R73Q probably benign Het
Smco3 A G 6: 136,808,197 (GRCm39) *226R probably null Het
Sugp2 T C 8: 70,712,324 (GRCm39) probably benign Het
Tsga10 T C 1: 37,846,098 (GRCm39) I343V probably benign Het
Ube2q2 A G 9: 55,075,502 (GRCm39) K104E probably damaging Het
Ube3a C T 7: 58,925,506 (GRCm39) probably benign Het
Usp11 T C X: 20,585,381 (GRCm39) I785T probably damaging Het
Vmn2r22 A T 6: 123,626,026 (GRCm39) C137S probably damaging Het
Zfp281 T C 1: 136,555,185 (GRCm39) V721A possibly damaging Het
Zfp946 T C 17: 22,672,469 (GRCm39) S23P probably damaging Het
Zfyve1 A G 12: 83,594,694 (GRCm39) V766A probably damaging Het
Other mutations in Klra6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Klra6 APN 6 130,000,663 (GRCm39) missense possibly damaging 0.77
IGL02319:Klra6 APN 6 130,002,177 (GRCm39) missense probably damaging 0.98
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 2014-05-07