Incidental Mutation 'R5381:Klrd1'
ID 424711
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 042956-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5381 (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 129572397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 63 (D63G)
Ref Sequence ENSEMBL: ENSMUSP00000113399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032268] [ENSMUST00000112063] [ENSMUST00000119520] [ENSMUST00000159804]
AlphaFold O54707
Predicted Effect probably benign
Transcript: ENSMUST00000032268
AA Change: D40G

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000032268
Gene: ENSMUSG00000030165
AA Change: D40G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CLECT 38 151 8.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112063
AA Change: D63G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107694
Gene: ENSMUSG00000030165
AA Change: D63G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
CLECT 61 175 2.84e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119520
AA Change: D63G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113399
Gene: ENSMUSG00000030165
AA Change: D63G

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (74/74)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik G T 11: 65,044,137 (GRCm39) S19* probably null Het
4930432E11Rik A T 7: 29,262,393 (GRCm39) noncoding transcript Het
Acvr1c T C 2: 58,177,747 (GRCm39) T241A probably damaging Het
Ankmy1 T C 1: 92,804,284 (GRCm39) T900A probably benign Het
Anp32a A C 9: 62,279,459 (GRCm39) E107A probably damaging Het
Arhgef40 T C 14: 52,229,306 (GRCm39) I623T probably damaging Het
Camsap3 T A 8: 3,653,812 (GRCm39) I483N probably damaging Het
Card9 G A 2: 26,248,895 (GRCm39) L85F probably damaging Het
Cbfa2t2 T G 2: 154,365,849 (GRCm39) V353G probably damaging Het
Ccdc166 A T 15: 75,852,701 (GRCm39) L422* probably null Het
Ccdc198 T C 14: 49,470,364 (GRCm39) D185G probably damaging Het
Ccdc73 A T 2: 104,820,270 (GRCm39) N416Y probably damaging Het
Celsr2 A T 3: 108,310,073 (GRCm39) D1552E probably damaging Het
Ces1b A T 8: 93,791,647 (GRCm39) N317K probably benign Het
Col6a3 T C 1: 90,703,334 (GRCm39) R2471G unknown Het
Crocc C T 4: 140,756,622 (GRCm39) R1165H possibly damaging Het
Csmd3 T A 15: 47,604,611 (GRCm39) Y1955F probably benign Het
Ctbp1 A T 5: 33,407,034 (GRCm39) D232E probably benign Het
Cuedc1 T A 11: 88,078,812 (GRCm39) probably null Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dusp6 G A 10: 99,102,129 (GRCm39) V226I possibly damaging Het
Gpr152 A G 19: 4,192,516 (GRCm39) E19G probably damaging Het
Ighv16-1 T C 12: 114,032,593 (GRCm39) T70A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Il12b C A 11: 44,298,699 (GRCm39) D51E possibly damaging Het
Il9r T G 11: 32,140,715 (GRCm39) D435A probably benign Het
Jakmip2 T C 18: 43,715,025 (GRCm39) D167G probably damaging Het
Lactb A G 9: 66,863,297 (GRCm39) L439P probably damaging Het
Laptm5 T C 4: 130,660,969 (GRCm39) probably benign Het
Lgals1 A G 15: 78,814,223 (GRCm39) D96G probably benign Het
Lrp8 A T 4: 107,726,307 (GRCm39) H871L probably damaging Het
Mfap4 A T 11: 61,378,756 (GRCm39) I235F probably benign Het
Muc6 G A 7: 141,217,836 (GRCm39) T2279I possibly damaging Het
Nlrp4b T A 7: 10,449,172 (GRCm39) Y91* probably null Het
Osbp2 A G 11: 3,655,593 (GRCm39) Y383H probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Palb2 G T 7: 121,727,636 (GRCm39) T78K probably benign Het
Panx2 G T 15: 88,944,433 (GRCm39) V53L probably damaging Het
Pip4p1 T C 14: 51,166,495 (GRCm39) E161G probably benign Het
Pitx1 T C 13: 55,973,892 (GRCm39) Y313C probably damaging Het
Pjvk A G 2: 76,481,904 (GRCm39) probably null Het
Pnldc1 T G 17: 13,109,283 (GRCm39) K439T probably benign Het
Ppp4r4 A C 12: 103,559,357 (GRCm39) T513P probably benign Het
Pram1 A T 17: 33,860,600 (GRCm39) Q389L probably damaging Het
Prg4 T C 1: 150,330,204 (GRCm39) probably benign Het
Prkch C A 12: 73,738,366 (GRCm39) R158S probably damaging Het
Ptpn7 A T 1: 135,070,906 (GRCm39) M332L probably damaging Het
Rad51c A T 11: 87,288,459 (GRCm39) D241E probably benign Het
Rara T G 11: 98,862,410 (GRCm39) I270M possibly damaging Het
Ryr2 T A 13: 11,571,544 (GRCm39) D4898V probably damaging Het
Sec31b C T 19: 44,522,810 (GRCm39) G218S probably damaging Het
Slc9a1 T A 4: 133,149,382 (GRCm39) L736Q probably damaging Het
Slco2a1 A T 9: 102,945,213 (GRCm39) D196V probably damaging Het
Sp3 C A 2: 72,800,910 (GRCm39) A368S probably benign Het
Stk24 A T 14: 121,531,645 (GRCm39) L337Q possibly damaging Het
Tbc1d13 A G 2: 30,027,379 (GRCm39) T96A probably benign Het
Tm2d3 G A 7: 65,351,420 (GRCm39) G225S probably damaging Het
Urb2 T C 8: 124,756,651 (GRCm39) V786A probably benign Het
Usp32 C T 11: 84,949,953 (GRCm39) probably benign Het
Usp54 C T 14: 20,636,144 (GRCm39) G300D probably damaging Het
Vmn1r124 T A 7: 20,994,323 (GRCm39) N74Y probably damaging Het
Vmn1r77 T A 7: 11,775,952 (GRCm39) C175S probably damaging Het
Vmn2r62 G T 7: 42,437,219 (GRCm39) Q422K probably benign Het
Vmn2r76 A G 7: 85,874,496 (GRCm39) F827S probably damaging Het
Vps52 A G 17: 34,177,275 (GRCm39) S106G possibly damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zic2 A G 14: 122,713,227 (GRCm39) N47S probably 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
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'- TCCACGAGGCAAAGCGTTTAG -3'
(R):5'- AAAGACTTACGTGAGAGTGGCC -3'

Sequencing Primer
(F):5'- GGCAAAGCGTTTAGATGAATAATACC -3'
(R):5'- CCAGTTTTGTCAGGTAGCATG -3'
Posted On 2016-08-04