Incidental Mutation 'IGL02199:Klrk1'
ID 284238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrk1
Ensembl Gene ENSMUSG00000030149
Gene Name killer cell lectin-like receptor subfamily K, member 1
Synonyms NKG2-D, Nkg2d, D6H12S2489E
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02199
Quality Score
Status
Chromosome 6
Chromosomal Location 129587286-129600827 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 129598207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032252] [ENSMUST00000095412] [ENSMUST00000168919]
AlphaFold O54709
Predicted Effect probably null
Transcript: ENSMUST00000032252
SMART Domains Protein: ENSMUSP00000032252
Gene: ENSMUSG00000030149

DomainStartEndE-ValueType
transmembrane domain 67 89 N/A INTRINSIC
CLECT 115 228 7.49e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000095412
SMART Domains Protein: ENSMUSP00000093061
Gene: ENSMUSG00000030149

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 102 215 7.49e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152256
Predicted Effect probably null
Transcript: ENSMUST00000168919
SMART Domains Protein: ENSMUSP00000130398
Gene: ENSMUSG00000030149

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 108 221 7.49e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204694
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice have defects in Natural Killer (NK) cell development, diminished NK-mediated cytolysis of tumor cells, and resistance to MCMV infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Aspg T C 12: 112,087,426 (GRCm39) V294A probably benign Het
Brms1l A G 12: 55,907,957 (GRCm39) probably benign Het
Celf5 T A 10: 81,318,318 (GRCm39) D41V possibly damaging Het
Clcn3 T A 8: 61,386,126 (GRCm39) K282* probably null Het
Clcn3 T A 8: 61,380,308 (GRCm39) T543S possibly damaging Het
Ctsj T A 13: 61,150,351 (GRCm39) N216I probably damaging Het
Dusp28 A G 1: 92,835,280 (GRCm39) probably benign Het
Fbp1 A G 13: 63,015,193 (GRCm39) I262T probably damaging Het
Gata4 A G 14: 63,437,912 (GRCm39) V413A possibly damaging Het
Glb1 A G 9: 114,303,015 (GRCm39) N617S probably benign Het
Gm454 T A 5: 138,202,285 (GRCm39) noncoding transcript Het
Hesx1 A G 14: 26,723,481 (GRCm39) S104G probably benign Het
Igf2bp3 T C 6: 49,065,458 (GRCm39) N478S probably benign Het
Lamb2 A G 9: 108,357,824 (GRCm39) T116A possibly damaging Het
Mbd2 T C 18: 70,726,371 (GRCm39) V270A probably damaging Het
Meis2 C T 2: 115,830,737 (GRCm39) V259I probably benign Het
Mtcl2 A T 2: 156,872,865 (GRCm39) L882Q probably damaging Het
Ngly1 T A 14: 16,290,844 (GRCm38) I442K probably damaging Het
Nrxn1 A G 17: 90,344,686 (GRCm39) L409P probably damaging Het
Otog G A 7: 45,926,775 (GRCm39) V1175I possibly damaging Het
Parp12 C T 6: 39,073,524 (GRCm39) A434T probably benign Het
Prrt3 G A 6: 113,471,770 (GRCm39) P801S probably damaging Het
Rps6ka2 G T 17: 7,521,852 (GRCm39) probably benign Het
Slc18a1 C A 8: 69,496,632 (GRCm39) V344L probably benign Het
Spg11 T A 2: 121,890,034 (GRCm39) T2103S probably damaging Het
Stoml2 A G 4: 43,029,366 (GRCm39) probably benign Het
Tshr T G 12: 91,505,057 (GRCm39) L73R probably damaging Het
Ylpm1 C T 12: 85,080,779 (GRCm39) Q786* probably null Het
Other mutations in Klrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02572:Klrk1 APN 6 129,592,316 (GRCm39) missense probably damaging 1.00
R0620:Klrk1 UTSW 6 129,591,598 (GRCm39) missense possibly damaging 0.89
R1709:Klrk1 UTSW 6 129,591,682 (GRCm39) splice site probably null
R5045:Klrk1 UTSW 6 129,594,466 (GRCm39) missense probably benign 0.04
R6943:Klrk1 UTSW 6 129,598,203 (GRCm39) start codon destroyed possibly damaging 0.72
R7042:Klrk1 UTSW 6 129,593,734 (GRCm39) missense possibly damaging 0.55
R8039:Klrk1 UTSW 6 129,589,786 (GRCm39) missense probably benign 0.02
R8341:Klrk1 UTSW 6 129,599,663 (GRCm39) intron probably benign
Posted On 2015-04-16