Incidental Mutation 'R2284:Klrd1'
ID 243240
Institutional Source Beutler Lab
Gene Symbol Klrd1
Ensembl Gene ENSMUSG00000030165
Gene Name killer cell lectin-like receptor, subfamily D, member 1
Synonyms CD94
MMRRC Submission 040283-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2284 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 129568745-129575738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129575344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 127 (H127R)
Ref Sequence ENSEMBL: ENSMUSP00000032268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032268] [ENSMUST00000112063] [ENSMUST00000119520] [ENSMUST00000159804]
AlphaFold O54707
Predicted Effect probably benign
Transcript: ENSMUST00000032268
AA Change: H127R

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032268
Gene: ENSMUSG00000030165
AA Change: H127R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CLECT 38 151 8.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112063
AA Change: H151R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107694
Gene: ENSMUSG00000030165
AA Change: H151R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
CLECT 61 175 2.84e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119520
AA Change: H170R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113399
Gene: ENSMUSG00000030165
AA Change: H170R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
CLECT 61 194 1.41e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159077
Predicted Effect probably benign
Transcript: ENSMUST00000159804
SMART Domains Protein: ENSMUSP00000123703
Gene: ENSMUSG00000030165

DomainStartEndE-ValueType
Blast:CLECT 5 54 5e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000203965
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal NK cell function and susceptibillity to infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipoq C T 16: 22,976,237 (GRCm39) Q213* probably null Het
Adsl C T 15: 80,848,096 (GRCm39) P278L probably damaging Het
Bcas2 T C 3: 103,085,678 (GRCm39) S187P probably damaging Het
Ccdc88a T C 11: 29,444,099 (GRCm39) probably null Het
Cryzl1 C T 16: 91,491,193 (GRCm39) probably benign Het
Csl T A 10: 99,594,321 (GRCm39) D248V possibly damaging Het
Dip2a A C 10: 76,149,027 (GRCm39) V247G probably benign Het
Fat2 T C 11: 55,173,186 (GRCm39) D2509G probably damaging Het
Gldn G A 9: 54,193,849 (GRCm39) W14* probably null Het
Gm5698 C T 1: 31,016,964 (GRCm39) R29Q possibly damaging Het
Gm5830 A T 1: 78,945,415 (GRCm39) noncoding transcript Het
Gtf2ird2 A G 5: 134,246,025 (GRCm39) D761G probably benign Het
Hdac10 T C 15: 89,011,607 (GRCm39) Q159R probably benign Het
Hhatl T C 9: 121,618,648 (GRCm39) Y118C probably damaging Het
Iho1 C T 9: 108,298,672 (GRCm39) E49K probably damaging Het
Krtap31-1 C T 11: 99,799,081 (GRCm39) Q95* probably null Het
Map2 C T 1: 66,453,227 (GRCm39) P548S probably damaging Het
Mki67 A G 7: 135,301,674 (GRCm39) V1120A probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr12 T A 15: 12,245,097 (GRCm39) M204K probably damaging Het
Muc6 T C 7: 141,217,837 (GRCm39) T2279A possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nlrp1b A G 11: 71,047,110 (GRCm39) S1084P probably benign Het
Nr2f1 C A 13: 78,343,581 (GRCm39) V81F probably damaging Het
Nrxn3 T A 12: 89,477,135 (GRCm39) N803K probably damaging Het
Or5l14 A G 2: 87,793,137 (GRCm39) L33P probably damaging Het
Ptpre A G 7: 135,271,510 (GRCm39) H375R probably benign Het
Tsc1 G A 2: 28,555,109 (GRCm39) V200I possibly damaging Het
Vmn1r42 A G 6: 89,821,681 (GRCm39) I296T probably benign Het
Vmn1r67 A T 7: 10,181,600 (GRCm39) H288L probably damaging Het
Vmn2r45 A T 7: 8,488,765 (GRCm39) N88K probably benign Het
Wt1 A G 2: 105,002,666 (GRCm39) T511A probably benign Het
Other mutations in Klrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4305001:Klrd1 UTSW 6 129,573,670 (GRCm39) missense unknown
R0056:Klrd1 UTSW 6 129,570,738 (GRCm39) missense probably benign 0.06
R2357:Klrd1 UTSW 6 129,573,872 (GRCm39) makesense probably null
R5381:Klrd1 UTSW 6 129,572,397 (GRCm39) missense possibly damaging 0.46
R5421:Klrd1 UTSW 6 129,575,406 (GRCm39) missense probably damaging 1.00
R6090:Klrd1 UTSW 6 129,572,499 (GRCm39) missense probably damaging 1.00
R6897:Klrd1 UTSW 6 129,570,468 (GRCm39) missense possibly damaging 0.94
R7563:Klrd1 UTSW 6 129,570,701 (GRCm39) missense possibly damaging 0.85
R9243:Klrd1 UTSW 6 129,568,795 (GRCm39) start codon destroyed probably null 1.00
Predicted Primers PCR Primer
(F):5'- TGGTGCTGAAAGATAACCACATAAG -3'
(R):5'- CGTGTGAAGAAGCCATCAAG -3'

Sequencing Primer
(F):5'- TGAAAGATAACCACATAAGGCCAAAC -3'
(R):5'- CATTCTACAGACACAAGATGGAAAG -3'
Posted On 2014-10-16