Incidental Mutation 'R0766:Klrg1'
ID 69499
Institutional Source Beutler Lab
Gene Symbol Klrg1
Ensembl Gene ENSMUSG00000030114
Gene Name killer cell lectin-like receptor subfamily G, member 1
Synonyms 2F1-Ag
MMRRC Submission 038946-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0766 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 122247555-122259792 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122256622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 55 (M55V)
Ref Sequence ENSEMBL: ENSMUSP00000032207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032207]
AlphaFold O88713
PDB Structure Structure of NK cell receptor KLRG1 bound to E-cadherin [X-RAY DIFFRACTION]
Structure of NK cell receptor KLRG1 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000032207
AA Change: M55V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000032207
Gene: ENSMUSG00000030114
AA Change: M55V

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
CLECT 75 184 1.13e-18 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.4%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a null allele have no abnormal phenoptype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A T 4: 103,127,994 (GRCm39) F44I probably damaging Het
A2m T C 6: 121,653,849 (GRCm39) probably benign Het
Card14 T C 11: 119,215,002 (GRCm39) S241P probably damaging Het
Cdh15 G A 8: 123,588,188 (GRCm39) probably benign Het
Dnah5 A C 15: 28,448,633 (GRCm39) K4232T probably null Het
Eml6 A G 11: 29,781,219 (GRCm39) probably benign Het
Esd T C 14: 74,979,561 (GRCm39) S122P probably damaging Het
Frem3 G A 8: 81,341,951 (GRCm39) V1415I probably benign Het
Fry T C 5: 150,326,897 (GRCm39) probably benign Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Herc1 C T 9: 66,412,122 (GRCm39) P4781S probably damaging Het
Ift70a2 A T 2: 75,806,676 (GRCm39) V612D probably benign Het
Iqch G A 9: 63,389,965 (GRCm39) S738L probably benign Het
Itih2 T A 2: 10,102,735 (GRCm39) T800S probably benign Het
Itpr1 A G 6: 108,387,861 (GRCm39) E1533G probably damaging Het
Lrrk2 A G 15: 91,584,098 (GRCm39) N286S probably damaging Het
Mkx T A 18: 6,937,192 (GRCm39) D284V probably benign Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Otos A C 1: 92,573,073 (GRCm39) L14R probably damaging Het
Plch2 C T 4: 155,074,256 (GRCm39) V765M probably damaging Het
Ppp4r3b A T 11: 29,123,358 (GRCm39) Q18L probably benign Het
Psme4 T A 11: 30,757,687 (GRCm39) probably null Het
Pwp1 G A 10: 85,715,173 (GRCm39) D220N probably damaging Het
Rel G A 11: 23,707,010 (GRCm39) T64I probably damaging Het
Snai2 T A 16: 14,526,111 (GRCm39) M254K possibly damaging Het
Sntb2 A G 8: 107,728,209 (GRCm39) T386A probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tex22 A G 12: 113,052,143 (GRCm39) N67S possibly damaging Het
Trank1 T G 9: 111,176,537 (GRCm39) S270A probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn1r167 A G 7: 23,204,548 (GRCm39) F156S probably benign Het
Vrk2 G A 11: 26,485,522 (GRCm39) probably benign Het
Wdfy4 T C 14: 32,862,569 (GRCm39) E601G probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp638 A G 6: 83,906,023 (GRCm39) N63D probably damaging Het
Other mutations in Klrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Klrg1 APN 6 122,259,711 (GRCm39) missense probably benign 0.00
R1297:Klrg1 UTSW 6 122,250,538 (GRCm39) missense probably benign 0.12
R1974:Klrg1 UTSW 6 122,259,721 (GRCm39) missense possibly damaging 0.74
R2034:Klrg1 UTSW 6 122,256,596 (GRCm39) critical splice donor site probably null
R4823:Klrg1 UTSW 6 122,250,492 (GRCm39) splice site probably null
R4995:Klrg1 UTSW 6 122,255,234 (GRCm39) missense probably benign 0.00
R5029:Klrg1 UTSW 6 122,259,694 (GRCm39) missense probably benign
R5225:Klrg1 UTSW 6 122,248,331 (GRCm39) makesense probably null
R6389:Klrg1 UTSW 6 122,248,431 (GRCm39) missense probably damaging 0.96
R6482:Klrg1 UTSW 6 122,248,412 (GRCm39) nonsense probably null
R7958:Klrg1 UTSW 6 122,248,331 (GRCm39) makesense probably null
R8774:Klrg1 UTSW 6 122,255,193 (GRCm39) missense probably benign
R8774-TAIL:Klrg1 UTSW 6 122,255,193 (GRCm39) missense probably benign
R8801:Klrg1 UTSW 6 122,248,342 (GRCm39) missense probably benign 0.01
R9372:Klrg1 UTSW 6 122,256,699 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GGACCAGAGAAATCCCAACTTCCTG -3'
(R):5'- GTTCCCTTTAACTGGAGAGCGAGTG -3'

Sequencing Primer
(F):5'- GCCTGAATTCGAAGTGGAGA -3'
(R):5'- AGTGCTCTCCCTAACCAGG -3'
Posted On 2013-09-30