Incidental Mutation 'R6943:Klrk1'
ID 540651
Institutional Source Beutler Lab
Gene Symbol Klrk1
Ensembl Gene ENSMUSG00000030149
Gene Name killer cell lectin-like receptor subfamily K, member 1
Synonyms NKG2-D, Nkg2d, D6H12S2489E
MMRRC Submission 045057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6943 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 129587286-129600827 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 129598203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000130398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032252] [ENSMUST00000095412] [ENSMUST00000168919]
AlphaFold O54709
Predicted Effect probably benign
Transcript: ENSMUST00000032252
AA Change: M14L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032252
Gene: ENSMUSG00000030149
AA Change: M14L

DomainStartEndE-ValueType
transmembrane domain 67 89 N/A INTRINSIC
CLECT 115 228 7.49e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095412
AA Change: M1L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093061
Gene: ENSMUSG00000030149
AA Change: M1L

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 102 215 7.49e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168919
AA Change: M1L

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130398
Gene: ENSMUSG00000030149
AA Change: M1L

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 108 221 7.49e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.2%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,583,362 (GRCm39) probably null Het
Arhgef1 A G 7: 24,623,156 (GRCm39) I423V probably benign Het
Aspm T C 1: 139,408,280 (GRCm39) L2389P probably damaging Het
B4galt1 T C 4: 40,812,860 (GRCm39) M222V probably benign Het
Bsn C A 9: 107,985,016 (GRCm39) G3013C unknown Het
Camsap2 T C 1: 136,232,187 (GRCm39) H136R probably damaging Het
Ccar1 A G 10: 62,582,715 (GRCm39) V1047A unknown Het
Ccdc80 A G 16: 44,915,445 (GRCm39) E67G probably benign Het
Ces3b G T 8: 105,819,710 (GRCm39) G511V probably damaging Het
Cops6 T A 5: 138,161,790 (GRCm39) H224Q probably benign Het
Dnah5 A T 15: 28,235,866 (GRCm39) D331V probably damaging Het
Dusp29 T C 14: 21,727,135 (GRCm39) D171G probably damaging Het
Echs1 G A 7: 139,688,007 (GRCm39) T266I probably damaging Het
Ehmt2 G A 17: 35,130,406 (GRCm39) C1017Y probably damaging Het
Epb41l5 C T 1: 119,536,859 (GRCm39) R344Q probably damaging Het
Fcgbp G A 7: 27,791,477 (GRCm39) V913I probably benign Het
Foxd4 A G 19: 24,877,240 (GRCm39) F320S probably damaging Het
Frmpd4 C T X: 166,387,579 (GRCm39) R133K probably damaging Het
Glmp A G 3: 88,233,917 (GRCm39) Y258C probably damaging Het
Gphn C G 12: 78,538,955 (GRCm39) S200R possibly damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
H2-Q7 T G 17: 35,658,560 (GRCm39) M66R probably benign Het
Hivep2 T A 10: 14,004,058 (GRCm39) C219S probably damaging Het
Hlcs A T 16: 93,942,261 (GRCm39) M90K possibly damaging Het
Itga8 C A 2: 12,160,182 (GRCm39) probably null Het
Kmo T A 1: 175,485,941 (GRCm39) F385I probably benign Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc3c A G 11: 98,490,075 (GRCm39) D144G probably damaging Het
Lyzl4 C T 9: 121,412,047 (GRCm39) W123* probably null Het
Map3k1 A G 13: 111,909,246 (GRCm39) S77P probably benign Het
Mark1 T C 1: 184,630,984 (GRCm39) T709A probably damaging Het
Nbr1 A T 11: 101,468,777 (GRCm39) I878F probably damaging Het
Nedd1 A T 10: 92,547,168 (GRCm39) H118Q probably damaging Het
Nfatc1 C T 18: 80,678,770 (GRCm39) G873S probably damaging Het
Ngly1 T G 14: 16,283,467 (GRCm38) N415K probably damaging Het
Nol6 C A 4: 41,118,962 (GRCm39) R677L probably damaging Het
Nop9 T C 14: 55,990,270 (GRCm39) V471A probably benign Het
Notch4 A G 17: 34,802,577 (GRCm39) N1333D probably benign Het
Nsun2 G A 13: 69,778,152 (GRCm39) G478R probably damaging Het
Or10x4 T A 1: 174,219,407 (GRCm39) Y257* probably null Het
Or1ad8 T A 11: 50,898,153 (GRCm39) M118K probably damaging Het
Or5m9b T C 2: 85,905,264 (GRCm39) F60S probably damaging Het
Or8g34 A T 9: 39,373,159 (GRCm39) Y144F probably benign Het
Pcp4l1 T C 1: 171,002,022 (GRCm39) E46G possibly damaging Het
Plek2 T C 12: 78,936,083 (GRCm39) probably null Het
Rbl1 T G 2: 157,030,206 (GRCm39) I434L probably benign Het
Ryr2 A G 13: 11,581,834 (GRCm39) V4777A possibly damaging Het
Sgk1 T C 10: 21,758,593 (GRCm39) F19S probably damaging Het
Stard9 C T 2: 120,532,677 (GRCm39) A2978V probably benign Het
Syne1 T C 10: 5,033,940 (GRCm39) T7711A probably benign Het
Taf10 G A 7: 105,393,383 (GRCm39) T48I probably benign Het
Tgfbi T G 13: 56,784,989 (GRCm39) S649A possibly damaging Het
Thbs3 T C 3: 89,132,171 (GRCm39) V749A probably benign Het
Tmem241 G T 18: 12,180,641 (GRCm39) H218N possibly damaging Het
Tmem266 C T 9: 55,284,851 (GRCm39) probably benign Het
Tnc T C 4: 63,900,982 (GRCm39) I1586M probably damaging Het
Ubr4 T A 4: 139,164,442 (GRCm39) C2676* probably null Het
Unc13a A T 8: 72,105,021 (GRCm39) I747N probably damaging Het
Vangl1 A T 3: 102,073,097 (GRCm39) probably benign Het
Vmn1r184 C T 7: 25,966,563 (GRCm39) T103I possibly damaging Het
Vmn1r204 T C 13: 22,740,474 (GRCm39) V35A probably benign Het
Vps13b A G 15: 35,448,835 (GRCm39) H603R possibly damaging Het
Zfp105 A G 9: 122,754,303 (GRCm39) D44G probably benign Het
Zfp11 T C 5: 129,735,152 (GRCm39) H103R probably damaging Het
Zfp335 A G 2: 164,736,795 (GRCm39) F947L possibly damaging Het
Other mutations in Klrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Klrk1 APN 6 129,598,207 (GRCm39) critical splice acceptor site probably null
IGL02572:Klrk1 APN 6 129,592,316 (GRCm39) missense probably damaging 1.00
R0620:Klrk1 UTSW 6 129,591,598 (GRCm39) missense possibly damaging 0.89
R1709:Klrk1 UTSW 6 129,591,682 (GRCm39) splice site probably null
R5045:Klrk1 UTSW 6 129,594,466 (GRCm39) missense probably benign 0.04
R7042:Klrk1 UTSW 6 129,593,734 (GRCm39) missense possibly damaging 0.55
R8039:Klrk1 UTSW 6 129,589,786 (GRCm39) missense probably benign 0.02
R8341:Klrk1 UTSW 6 129,599,663 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- ATGACAACAGCAATGTTTCCAC -3'
(R):5'- GCATAAAGTCCGCTTTGATGTTAG -3'

Sequencing Primer
(F):5'- ACATCCACCTCAGTCCATTTTGAG -3'
(R):5'- AAGTCCGCTTTGATGTTAGATTTC -3'
Posted On 2018-11-06