Incidental Mutation 'IGL01962:Klrc1'
ID 182440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrc1
Ensembl Gene ENSMUSG00000030167
Gene Name killer cell lectin-like receptor subfamily C, member 1
Synonyms NKG2A, CD159a, NKG2B
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL01962
Quality Score
Status
Chromosome 6
Chromosomal Location 129642978-129655936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129655865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 3 (N3K)
Ref Sequence ENSEMBL: ENSMUSP00000130762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032270] [ENSMUST00000032271] [ENSMUST00000118447] [ENSMUST00000169545]
AlphaFold Q9Z202
Predicted Effect possibly damaging
Transcript: ENSMUST00000032270
AA Change: N3K

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032270
Gene: ENSMUSG00000030167
AA Change: N3K

DomainStartEndE-ValueType
transmembrane domain 71 93 N/A INTRINSIC
CLECT 128 239 7.33e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000032271
AA Change: N3K

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032271
Gene: ENSMUSG00000030167
AA Change: N3K

DomainStartEndE-ValueType
transmembrane domain 71 93 N/A INTRINSIC
CLECT 128 239 7.33e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118447
AA Change: N3K

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114017
Gene: ENSMUSG00000030167
AA Change: N3K

DomainStartEndE-ValueType
transmembrane domain 71 93 N/A INTRINSIC
CLECT 111 222 7.33e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169545
AA Change: N3K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130762
Gene: ENSMUSG00000030167
AA Change: N3K

DomainStartEndE-ValueType
CLECT 94 205 7.33e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,324,514 (GRCm39) F253S probably benign Het
AI429214 T A 8: 37,461,383 (GRCm39) I177N probably damaging Het
Astn1 C A 1: 158,496,201 (GRCm39) T1077K probably damaging Het
Asxl3 A T 18: 22,655,502 (GRCm39) I1171L probably benign Het
Cdca2 A T 14: 67,943,172 (GRCm39) S206T probably damaging Het
Chd3 T C 11: 69,248,319 (GRCm39) M858V possibly damaging Het
Cyp2j12 C T 4: 95,987,999 (GRCm39) A464T probably benign Het
Fryl A T 5: 73,190,134 (GRCm39) D2787E possibly damaging Het
Hmx3 G A 7: 131,146,000 (GRCm39) R236H probably damaging Het
Il1rap T A 16: 26,529,318 (GRCm39) C330* probably null Het
Nars1 A G 18: 64,643,554 (GRCm39) F142L probably benign Het
Nipal1 A G 5: 72,825,401 (GRCm39) S365G possibly damaging Het
Or1n1 T A 2: 36,749,787 (GRCm39) H191L probably benign Het
Or2ag15 G A 7: 106,340,991 (GRCm39) T50I probably benign Het
Or51s1 T G 7: 102,559,054 (GRCm39) probably benign Het
Or8k17 C A 2: 86,066,456 (GRCm39) R234M probably damaging Het
Pcdhb4 A G 18: 37,442,057 (GRCm39) T456A possibly damaging Het
Pcdhb5 G A 18: 37,454,093 (GRCm39) D158N probably damaging Het
Pcsk2 C T 2: 143,655,552 (GRCm39) Q579* probably null Het
Phactr4 G A 4: 132,091,086 (GRCm39) R577W probably damaging Het
Rbms3 T C 9: 116,524,879 (GRCm39) probably benign Het
Rxfp1 T G 3: 79,594,175 (GRCm39) D73A probably damaging Het
Scmh1 A T 4: 120,340,781 (GRCm39) probably benign Het
Syk T G 13: 52,764,993 (GRCm39) L40R probably damaging Het
Tcn2 T C 11: 3,875,072 (GRCm39) N153S probably benign Het
Tnks A G 8: 35,336,678 (GRCm39) L502P probably damaging Het
Vmn2r111 A G 17: 22,767,265 (GRCm39) V744A possibly damaging Het
Other mutations in Klrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02814:Klrc1 APN 6 129,655,855 (GRCm39) missense possibly damaging 0.92
R3414:Klrc1 UTSW 6 129,654,726 (GRCm39) critical splice donor site probably null
R4796:Klrc1 UTSW 6 129,654,725 (GRCm39) splice site probably null
R5794:Klrc1 UTSW 6 129,652,317 (GRCm39) missense probably damaging 1.00
R5940:Klrc1 UTSW 6 129,651,898 (GRCm39) missense possibly damaging 0.84
R7203:Klrc1 UTSW 6 129,654,184 (GRCm39) missense probably benign 0.02
R9562:Klrc1 UTSW 6 129,655,746 (GRCm39) missense probably damaging 0.99
R9565:Klrc1 UTSW 6 129,655,746 (GRCm39) missense probably damaging 0.99
X0018:Klrc1 UTSW 6 129,655,762 (GRCm39) missense probably damaging 0.96
Posted On 2014-05-07