Incidental Mutation 'R7563:Klrd1'
ID 585255
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 045655-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7563 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 129568745-129575738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129570701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 37 (I37M)
Ref Sequence ENSEMBL: ENSMUSP00000107694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032268] [ENSMUST00000112063] [ENSMUST00000119520] [ENSMUST00000159804]
AlphaFold O54707
Predicted Effect possibly damaging
Transcript: ENSMUST00000032268
AA Change: I14M

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032268
Gene: ENSMUSG00000030165
AA Change: I14M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CLECT 38 151 8.6e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112063
AA Change: I37M

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107694
Gene: ENSMUSG00000030165
AA Change: I37M

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
CLECT 61 175 2.84e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119520
AA Change: I37M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113399
Gene: ENSMUSG00000030165
AA Change: I37M

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
CLECT 61 194 1.41e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159804
AA Change: I37M

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123703
Gene: ENSMUSG00000030165
AA Change: I37M

DomainStartEndE-ValueType
Blast:CLECT 5 54 5e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000203965
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,184,464 (GRCm39) I98T probably damaging Het
Ahnak T C 19: 8,988,529 (GRCm39) I3271T probably damaging Het
Aox1 G A 1: 58,086,304 (GRCm39) V70I probably benign Het
Ap1g2 A G 14: 55,337,206 (GRCm39) S710P probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cacna1e T C 1: 154,347,162 (GRCm39) K1064E probably benign Het
Capn11 T A 17: 45,944,891 (GRCm39) I459F probably damaging Het
Ccnc A G 4: 21,732,220 (GRCm39) I48V probably damaging Het
Ces1d T A 8: 93,904,667 (GRCm39) I358F probably benign Het
Clgn A T 8: 84,147,185 (GRCm39) N379I probably damaging Het
Cym T C 3: 107,121,548 (GRCm39) Y248C probably damaging Het
Epha8 T C 4: 136,666,100 (GRCm39) D352G possibly damaging Het
Eya2 T C 2: 165,558,050 (GRCm39) probably null Het
Fam219a A C 4: 41,569,208 (GRCm39) V10G probably benign Het
Fbxl5 C T 5: 43,978,891 (GRCm39) V20I probably benign Het
Fbxl9 A G 8: 106,042,388 (GRCm39) C147R probably benign Het
Fscb T C 12: 64,520,059 (GRCm39) E469G possibly damaging Het
Glt8d2 A T 10: 82,496,659 (GRCm39) probably null Het
Grep1 A T 17: 23,936,302 (GRCm39) F8L probably benign Het
Helt T C 8: 46,746,630 (GRCm39) probably benign Het
Igkv8-27 G T 6: 70,148,887 (GRCm39) T89K probably benign Het
Ipo5 T A 14: 121,183,567 (GRCm39) H1048Q probably benign Het
Kalrn T C 16: 34,212,464 (GRCm39) D28G probably damaging Het
Kcnh4 G A 11: 100,632,680 (GRCm39) P936S probably benign Het
Kmt2e T C 5: 23,705,271 (GRCm39) V1267A probably damaging Het
Marchf1 A T 8: 66,920,965 (GRCm39) Q214L probably damaging Het
Mlip G T 9: 77,020,279 (GRCm39) H52N probably damaging Het
Oas1e T C 5: 120,927,021 (GRCm39) R229G probably benign Het
Ogfr T A 2: 180,234,300 (GRCm39) probably null Het
Or4g16 T C 2: 111,137,134 (GRCm39) F195L probably benign Het
Or5m10 T A 2: 85,717,482 (GRCm39) Y113N probably damaging Het
Pde4d T C 13: 110,087,541 (GRCm39) I636T probably benign Het
Pex5l C T 3: 33,008,625 (GRCm39) V426I probably damaging Het
Pmfbp1 A G 8: 110,252,006 (GRCm39) K384E possibly damaging Het
Pramel22 A T 4: 143,380,675 (GRCm39) Y449* probably null Het
Prl6a1 T G 13: 27,498,221 (GRCm39) probably null Het
Prss23 A T 7: 89,159,038 (GRCm39) W344R probably damaging Het
Ptar1 T A 19: 23,697,680 (GRCm39) D397E probably benign Het
Qrsl1 G A 10: 43,752,513 (GRCm39) R437C probably damaging Het
Rab6a G T 7: 100,257,404 (GRCm39) probably benign Het
Samd14 C A 11: 94,912,239 (GRCm39) S205R probably benign Het
Sel1l3 T C 5: 53,343,326 (GRCm39) Y322C probably damaging Het
Slc30a5 A T 13: 100,940,480 (GRCm39) L669I probably benign Het
Ssc4d A G 5: 135,991,887 (GRCm39) L419P probably damaging Het
Tbc1d2b A T 9: 90,101,063 (GRCm39) Y642* probably null Het
Tbc1d2b A C 9: 90,108,301 (GRCm39) F417V probably benign Het
Top2a T C 11: 98,907,005 (GRCm39) D212G probably damaging Het
Trim39 A T 17: 36,571,807 (GRCm39) V317E probably damaging Het
Uncx G A 5: 139,530,261 (GRCm39) R113H probably damaging Het
Usp4 A G 9: 108,256,543 (GRCm39) S655G probably benign Het
Vmn2r114 C T 17: 23,510,000 (GRCm39) V827I probably benign Het
Vmn2r28 T A 7: 5,491,200 (GRCm39) N349I probably benign Het
Vmn2r3 A G 3: 64,182,770 (GRCm39) W310R possibly damaging Het
Xirp2 T C 2: 67,340,245 (GRCm39) W829R probably damaging Het
Zfp574 C A 7: 24,780,777 (GRCm39) H600N possibly damaging 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
R2284:Klrd1 UTSW 6 129,575,344 (GRCm39) missense probably benign 0.09
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
R9243:Klrd1 UTSW 6 129,568,795 (GRCm39) start codon destroyed probably null 1.00
Predicted Primers PCR Primer
(F):5'- TCACTCGGTGGAGACTGATG -3'
(R):5'- GTCTTACGCTGCTTACATTCAATG -3'

Sequencing Primer
(F):5'- CTTTTCTTGATGGTTACTTTGGGAG -3'
(R):5'- CATGCTGTAGAATGAGCTTC -3'
Posted On 2019-10-17