Incidental Mutation 'R1297:Klrg1'
ID 158175
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 039363-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1297 (G1)
Quality Score 218
Status Validated
Chromosome 6
Chromosomal Location 122247555-122259792 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122250538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 138 (I138F)
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: I138F

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032207
Gene: ENSMUSG00000030114
AA Change: I138F

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: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,820,834 (GRCm39) N542D possibly damaging Het
Ap2b1 T A 11: 83,223,935 (GRCm39) W217R probably damaging Het
Cep290 T A 10: 100,374,962 (GRCm39) probably benign Het
Col27a1 G A 4: 63,183,868 (GRCm39) probably benign Het
Cyp2d12 A T 15: 82,441,887 (GRCm39) H109L probably benign Het
Dnah17 T C 11: 118,012,192 (GRCm39) probably benign Het
Golga3 G A 5: 110,352,709 (GRCm39) A867T probably benign Het
Gstt4 T A 10: 75,653,133 (GRCm39) N143I possibly damaging Het
Hdac2 G A 10: 36,862,370 (GRCm39) R78Q possibly damaging Het
Itsn2 T C 12: 4,750,378 (GRCm39) I1241T probably damaging Het
Kalrn T C 16: 33,836,868 (GRCm39) K2249R probably damaging Het
Mast1 A G 8: 85,639,345 (GRCm39) V1328A probably benign Het
Mettl25 T C 10: 105,659,126 (GRCm39) S386G probably benign Het
Nme2 A T 11: 93,842,782 (GRCm39) N210K possibly damaging Het
Pgap1 T C 1: 54,567,682 (GRCm39) S388G possibly damaging Het
Pgk2 C A 17: 40,519,255 (GRCm39) V58L probably benign Het
Phf11 A T 14: 59,495,996 (GRCm39) H39Q probably benign Het
Pou6f1 T A 15: 100,476,186 (GRCm39) T292S probably damaging Het
Rbm5 G A 9: 107,621,441 (GRCm39) R15C probably damaging Het
Rnf215 T C 11: 4,089,806 (GRCm39) V273A possibly damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Safb2 T C 17: 56,891,265 (GRCm39) probably benign Het
Setdb1 A T 3: 95,257,187 (GRCm39) probably benign Het
Sp5 A G 2: 70,306,873 (GRCm39) D186G probably benign Het
Thada A G 17: 84,559,863 (GRCm39) probably benign Het
Tle1 A G 4: 72,043,075 (GRCm39) V598A probably damaging Het
Tnrc6c A G 11: 117,624,529 (GRCm39) N947S possibly damaging Het
Tnxb T C 17: 34,929,140 (GRCm39) S2728P probably damaging Het
Vmn1r13 A G 6: 57,187,392 (GRCm39) R184G probably damaging Het
Wdr24 C T 17: 26,046,322 (GRCm39) T522I possibly damaging Het
Zfyve16 A G 13: 92,658,840 (GRCm39) V357A probably benign Het
Other mutations in Klrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Klrg1 APN 6 122,259,711 (GRCm39) missense probably benign 0.00
R0766:Klrg1 UTSW 6 122,256,622 (GRCm39) missense probably benign 0.00
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'- CCAGGGACTACTCAATCAGGAAGGAC -3'
(R):5'- gagagagagagagagagGATAAGGATGACTAA -3'

Sequencing Primer
(F):5'- cccccaccctcacctcc -3'
(R):5'- tcccccataccctcccc -3'
Posted On 2014-02-18