Incidental Mutation 'IGL02037:Klra6'
ID184536
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: 0.054) question?
Stock #IGL02037
Quality Score
Status
Chromosome6
Chromosomal Location130013033-130026954 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 130013476 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 224 (M224R)
Ref Sequence ENSEMBL: ENSMUSP00000073700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074056]
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: 92,828,016 probably benign Het
Ace2 T A X: 164,164,000 V293D probably damaging Het
Adgrg6 T C 10: 14,441,441 Y545C probably damaging Het
Arhgap40 A G 2: 158,534,822 T293A probably damaging Het
Arhgef19 A G 4: 141,246,396 T65A probably damaging Het
Brf1 A G 12: 112,993,062 probably null Het
Cbfb T C 8: 105,178,620 S65P possibly damaging Het
Chsy1 T C 7: 66,171,828 S604P possibly damaging Het
Ckmt1 T C 2: 121,361,162 V271A probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd2 T C 4: 128,477,470 probably benign Het
D430041D05Rik A G 2: 104,208,214 probably benign Het
Dsg1c A G 18: 20,276,950 T492A probably benign Het
Fam160a1 T G 3: 85,730,632 K120T probably damaging Het
Fam3a G A X: 74,386,635 T156I probably damaging Het
Fbn2 A T 18: 58,096,015 C708S probably damaging Het
Fgf5 G A 5: 98,261,972 G127R probably damaging Het
Fn3k A T 11: 121,435,083 Y32F probably benign Het
Frem3 T C 8: 80,611,489 I137T probably benign Het
Hc T C 2: 35,013,519 D1041G probably benign Het
Heatr6 T A 11: 83,764,882 probably benign Het
Hivep1 G A 13: 42,156,077 A598T probably benign Het
Ifngr1 T C 10: 19,607,259 S254P probably benign Het
Kel T C 6: 41,697,474 S341G probably benign Het
Mis18bp1 A G 12: 65,136,748 probably null Het
Mpeg1 C T 19: 12,463,296 T706I probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Olfr1043 G T 2: 86,162,837 F37L probably benign Het
Palld T C 8: 61,525,114 R881G probably damaging Het
Pdha2 A T 3: 141,210,901 V282E probably damaging Het
Pga5 C T 19: 10,676,701 R46Q probably benign Het
Plekhg2 T C 7: 28,368,697 Y189C probably damaging Het
Rnf43 A G 11: 87,731,653 T527A probably benign Het
Rplp0 G A 5: 115,561,115 R73Q probably benign Het
Smco3 A G 6: 136,831,199 *226R probably null Het
Sugp2 T C 8: 70,259,674 probably benign Het
Tsga10 T C 1: 37,807,017 I343V probably benign Het
Ube2q2 A G 9: 55,168,218 K104E probably damaging Het
Ube3a C T 7: 59,275,758 probably benign Het
Usp11 T C X: 20,719,142 I785T probably damaging Het
Vmn2r22 A T 6: 123,649,067 C137S probably damaging Het
Zfp281 T C 1: 136,627,447 V721A possibly damaging Het
Zfp946 T C 17: 22,453,488 S23P probably damaging Het
Zfyve1 A G 12: 83,547,920 V766A probably damaging Het
Other mutations in Klra6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Klra6 APN 6 130023700 missense possibly damaging 0.77
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
Posted On2014-05-07