Incidental Mutation 'R0056:Klrd1'
ID 18436
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 038350-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0056 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 129568745-129575738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129570738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 50 (V50I)
Ref Sequence ENSEMBL: ENSMUSP00000123703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032268] [ENSMUST00000112063] [ENSMUST00000119520] [ENSMUST00000159804]
AlphaFold O54707
Predicted Effect probably benign
Transcript: ENSMUST00000032268
AA Change: V27I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000032268
Gene: ENSMUSG00000030165
AA Change: V27I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CLECT 38 151 8.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112063
AA Change: V50I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107694
Gene: ENSMUSG00000030165
AA Change: V50I

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
CLECT 61 175 2.84e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119520
AA Change: V50I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113399
Gene: ENSMUSG00000030165
AA Change: V50I

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
AA Change: V50I

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123703
Gene: ENSMUSG00000030165
AA Change: V50I

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: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,540 (GRCm39) C561* probably null Het
Ankfn1 A G 11: 89,282,502 (GRCm39) S1061P possibly damaging Het
Atp9b A G 18: 80,809,018 (GRCm39) S634P probably damaging Het
Bche A T 3: 73,608,654 (GRCm39) N257K possibly damaging Het
Bms1 A T 6: 118,382,190 (GRCm39) D449E probably benign Het
C630050I24Rik G T 8: 107,846,026 (GRCm39) V59F unknown Het
Camkk2 C T 5: 122,880,261 (GRCm39) E452K probably damaging Het
Ccdc121rt1 T C 1: 181,338,118 (GRCm39) Y278C probably damaging Het
Chd9 A G 8: 91,660,165 (GRCm39) H375R possibly damaging Het
Entpd7 T A 19: 43,713,733 (GRCm39) V364E probably benign Het
Epb41l3 A T 17: 69,560,392 (GRCm39) D313V probably damaging Het
Etv6 G T 6: 134,225,497 (GRCm39) E154* probably null Het
Fshr T G 17: 89,295,885 (GRCm39) H274P probably damaging Het
G3bp1 A G 11: 55,388,867 (GRCm39) N360D probably benign Het
Gdf11 C T 10: 128,722,294 (GRCm39) R187H probably benign Het
Gpihbp1 T A 15: 75,468,982 (GRCm39) I52N probably damaging Het
H1f8 G T 6: 115,923,934 (GRCm39) probably benign Het
Htt T C 5: 34,983,422 (GRCm39) probably benign Het
Iqcm A G 8: 76,480,014 (GRCm39) Q324R probably benign Het
Kcng3 A G 17: 83,895,185 (GRCm39) L427P probably damaging Het
Klk7 T C 7: 43,461,434 (GRCm39) L17P possibly damaging Het
Lama5 A T 2: 179,828,899 (GRCm39) probably benign Het
Lamtor3 T A 3: 137,632,711 (GRCm39) probably benign Het
Lyplal1 G A 1: 185,820,763 (GRCm39) T228I probably benign Het
Mapk6 A G 9: 75,296,098 (GRCm39) Y467H possibly damaging Het
Marchf6 T C 15: 31,467,880 (GRCm39) T776A possibly damaging Het
Mogat1 T G 1: 78,500,407 (GRCm39) M157R probably damaging Het
Morc2b T A 17: 33,357,733 (GRCm39) Q13L possibly damaging Het
Myo1h C T 5: 114,468,273 (GRCm39) T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 (GRCm38) probably null Het
Nobox A G 6: 43,281,853 (GRCm39) C407R probably benign Het
Nup58 A G 14: 60,476,924 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,329 (GRCm39) S187P probably benign Het
Otoa A G 7: 120,730,570 (GRCm39) Y590C probably benign Het
Pelp1 A T 11: 70,284,658 (GRCm39) V1070E unknown Het
Pglyrp3 G T 3: 91,933,111 (GRCm39) probably benign Het
Plpp2 A G 10: 79,363,063 (GRCm39) F189S probably damaging Het
Polr2b T C 5: 77,482,382 (GRCm39) I640T possibly damaging Het
Ryr2 T A 13: 11,683,924 (GRCm39) T3047S probably damaging Het
Snx25 A T 8: 46,491,550 (GRCm39) W847R probably damaging Het
Son T C 16: 91,475,043 (GRCm39) Y454H possibly damaging Het
Sos1 A T 17: 80,721,050 (GRCm39) N923K probably damaging Het
Tex15 A G 8: 34,072,055 (GRCm39) H2534R probably benign Het
Ticam2 G T 18: 46,693,401 (GRCm39) Q229K possibly damaging Het
Tnfaip3 A T 10: 18,881,041 (GRCm39) V342E probably damaging Het
Traf6 A G 2: 101,527,496 (GRCm39) I415M possibly damaging Het
Trpm1 A G 7: 63,893,334 (GRCm39) D1062G probably damaging Het
Wdr59 C T 8: 112,207,239 (GRCm39) probably benign Het
Other mutations in Klrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4305001:Klrd1 UTSW 6 129,573,670 (GRCm39) missense unknown
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
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
Posted On 2013-03-25