Incidental Mutation 'R0620:Klrk1'
ID58598
Institutional Source Beutler Lab
Gene Symbol Klrk1
Ensembl Gene ENSMUSG00000030149
Gene Namekiller cell lectin-like receptor subfamily K, member 1
SynonymsNkg2d, NKG2-D, D6H12S2489E
MMRRC Submission 038809-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R0620 (G1)
Quality Score167
Status Validated
Chromosome6
Chromosomal Location129610323-129623864 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 129614635 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 176 (Q176H)
Ref Sequence ENSEMBL: ENSMUSP00000130398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032252] [ENSMUST00000095412] [ENSMUST00000168919]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032252
AA Change: Q183H

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032252
Gene: ENSMUSG00000030149
AA Change: Q183H

DomainStartEndE-ValueType
transmembrane domain 67 89 N/A INTRINSIC
CLECT 115 228 7.49e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000095412
AA Change: Q170H

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093061
Gene: ENSMUSG00000030149
AA Change: Q170H

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 possibly damaging
Transcript: ENSMUST00000168919
AA Change: Q176H

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130398
Gene: ENSMUSG00000030149
AA Change: Q176H

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 108 221 7.49e-24 SMART
Meta Mutation Damage Score 0.1019 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 100% (74/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik A T 6: 149,328,375 Q973L probably damaging Het
Adamts9 T C 6: 92,858,113 T679A possibly damaging Het
Ahr T C 12: 35,508,194 T276A probably benign Het
Akap9 A T 5: 4,064,136 Q3138H probably damaging Het
Armt1 T A 10: 4,432,689 F7I probably benign Het
B3galt2 A G 1: 143,646,140 R5G probably damaging Het
Bod1l T C 5: 41,801,233 N2750S probably benign Het
Cadps2 T A 6: 23,583,396 E365V probably damaging Het
Cd200r3 T A 16: 44,957,717 probably null Het
Cst7 T A 2: 150,575,886 probably benign Het
Defb30 A T 14: 63,049,763 probably benign Het
Dido1 C T 2: 180,659,851 G2087S probably benign Het
Dio2 A G 12: 90,738,071 Y72H probably benign Het
Dnah11 C T 12: 117,987,469 E3035K probably damaging Het
Dnajb13 T C 7: 100,503,249 K287E possibly damaging Het
Dnajc11 G A 4: 151,973,628 V244I possibly damaging Het
Ect2 C T 3: 27,139,652 A226T probably damaging Het
Ercc8 G A 13: 108,174,061 probably null Het
Fam120b T A 17: 15,402,927 M389K probably benign Het
Fam151a A G 4: 106,747,931 M497V probably benign Het
Fam186b C A 15: 99,280,128 G439V probably benign Het
Fank1 A G 7: 133,876,765 Y185C probably damaging Het
Gart T C 16: 91,630,602 probably benign Het
Glb1l T C 1: 75,199,720 Y572C probably damaging Het
Gm11563 C T 11: 99,658,437 A164T unknown Het
Gnb4 C T 3: 32,591,207 V112I probably benign Het
Gsdmc3 T A 15: 63,859,693 D330V probably damaging Het
H2-DMa C T 17: 34,137,960 T144M probably damaging Het
Haus6 A T 4: 86,583,514 F707I possibly damaging Het
Hmcn1 T A 1: 150,594,016 T4971S probably benign Het
Ints6 A T 14: 62,696,759 F766L probably benign Het
Kdm5d T A Y: 927,330 M650K probably damaging Het
Kif21b T C 1: 136,159,428 F881S possibly damaging Het
Ky T C 9: 102,537,621 V244A probably benign Het
Mia2 T A 12: 59,154,419 L191M possibly damaging Het
Miga2 T A 2: 30,381,744 probably benign Het
Mtss1l C T 8: 110,737,948 P322S probably damaging Het
Nalcn A G 14: 123,299,141 probably benign Het
Ncbp3 T A 11: 73,049,845 probably benign Het
Nprl3 G A 11: 32,234,876 L378F probably damaging Het
Ntrk2 A T 13: 58,846,821 M184L probably benign Het
Olfr311 T G 11: 58,841,443 C110G probably damaging Het
Olfr738 G T 14: 50,413,697 C51F probably benign Het
Osbpl9 T C 4: 109,083,128 E287G probably damaging Het
Parva T C 7: 112,576,411 F250L probably damaging Het
Pcdhb11 C T 18: 37,421,811 Q65* probably null Het
Phtf1 A G 3: 103,993,765 T377A probably damaging Het
Pkp4 G A 2: 59,322,643 V612I possibly damaging Het
Plscr2 C A 9: 92,287,654 S52R probably benign Het
Pnisr C T 4: 21,874,092 probably benign Het
Pole2 A C 12: 69,209,879 S291A probably damaging Het
Ppp2r5d A G 17: 46,684,018 F586L probably benign Het
Prrx1 G A 1: 163,257,816 R182C probably damaging Het
Ptprs A G 17: 56,429,103 I110T possibly damaging Het
Rasgrf2 G A 13: 91,919,817 probably benign Het
Riox2 T C 16: 59,491,892 V464A probably benign Het
Robo2 A G 16: 73,967,802 V646A possibly damaging Het
Ros1 T A 10: 52,118,348 I1279F probably damaging Het
Siglec1 G A 2: 131,074,268 T1254M probably benign Het
Snx7 T C 3: 117,846,675 N62D probably damaging Het
Sp100 G A 1: 85,659,867 probably null Het
Stil A T 4: 115,007,159 I86L possibly damaging Het
Tbc1d16 T A 11: 119,209,038 D170V probably benign Het
Tmem2 T A 19: 21,817,971 S743T probably benign Het
Trappc13 G A 13: 104,161,081 T105M probably damaging Het
Trhr T A 15: 44,229,500 S378T probably benign Het
Ttc7b T C 12: 100,500,073 probably null Het
Vegfc A T 8: 54,157,139 Y110F probably benign Het
Vmn1r184 C A 7: 26,267,177 P116H possibly damaging Het
Vmn2r5 A T 3: 64,503,814 C444* probably null Het
Zfp341 A G 2: 154,634,273 E460G possibly damaging Het
Zfp819 T A 7: 43,616,444 V41E probably benign Het
Other mutations in Klrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Klrk1 APN 6 129621244 critical splice acceptor site probably null
IGL02572:Klrk1 APN 6 129615353 missense probably damaging 1.00
R1709:Klrk1 UTSW 6 129614719 splice site probably null
R5045:Klrk1 UTSW 6 129617503 missense probably benign 0.04
R6943:Klrk1 UTSW 6 129621240 start codon destroyed possibly damaging 0.72
R7042:Klrk1 UTSW 6 129616771 missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- GGGATGGAAGGCTACAGCTTATTGC -3'
(R):5'- GGACAATGCCTCCTTGCTCAAGTG -3'

Sequencing Primer
(F):5'- GAAGGCTACAGCTTATTGCATGTC -3'
(R):5'- CCTTGCTCAAGTGATGAGTTTC -3'
Posted On2013-07-11