Incidental Mutation 'IGL00921:Klrg1'
ID27619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrg1
Ensembl Gene ENSMUSG00000030114
Gene Namekiller cell lectin-like receptor subfamily G, member 1
Synonyms2F1-Ag
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00921
Quality Score
Status
Chromosome6
Chromosomal Location122270596-122282882 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 122282752 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 20 (D20E)
Ref Sequence ENSEMBL: ENSMUSP00000032207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032207]
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: D20E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032207
Gene: ENSMUSG00000030114
AA Change: D20E

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
CLECT 75 184 1.13e-18 SMART
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,285,729 I1530T probably damaging Het
Actb T C 5: 142,904,436 E237G probably damaging Het
Atrnl1 A G 19: 57,702,153 E931G probably damaging Het
Cenpc1 T C 5: 86,037,528 T375A probably benign Het
D1Pas1 A G 1: 186,968,786 D304G probably benign Het
Ddx49 G A 8: 70,294,756 Q345* probably null Het
Dnttip2 A T 3: 122,275,290 K51N probably benign Het
Fxr2 A G 11: 69,652,240 E621G probably damaging Het
Grhpr A G 4: 44,988,991 D216G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hook2 T C 8: 85,002,497 probably benign Het
Hspbp1 A G 7: 4,664,751 S248P probably damaging Het
Kat6a C T 8: 22,940,263 P1878L unknown Het
Layn G A 9: 51,057,408 T345I probably damaging Het
Mpi G A 9: 57,552,266 L9F probably damaging Het
Nbn T C 4: 15,963,833 V78A possibly damaging Het
Pkdrej A G 15: 85,817,226 I1503T probably damaging Het
Pou2f2 C A 7: 25,092,700 E577* probably null Het
Prim2 G T 1: 33,512,160 H292Q probably damaging Het
Tg A G 15: 66,764,453 N630D probably benign Het
Trim80 A G 11: 115,447,664 N440S probably benign Het
Ttn T C 2: 76,936,402 S3111G probably damaging Het
Ubash3a A G 17: 31,228,186 T339A probably benign Het
Zbtb21 A C 16: 97,952,022 S354A probably damaging Het
Zfp335 T C 2: 164,894,776 T980A possibly damaging Het
Other mutations in Klrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0766:Klrg1 UTSW 6 122279663 missense probably benign 0.00
R1297:Klrg1 UTSW 6 122273579 missense probably benign 0.12
R1974:Klrg1 UTSW 6 122282762 missense possibly damaging 0.74
R2034:Klrg1 UTSW 6 122279637 critical splice donor site probably null
R4823:Klrg1 UTSW 6 122273533 splice site probably null
R4995:Klrg1 UTSW 6 122278275 missense probably benign 0.00
R5029:Klrg1 UTSW 6 122282735 missense probably benign
R5225:Klrg1 UTSW 6 122271372 makesense probably null
R6389:Klrg1 UTSW 6 122271472 missense probably damaging 0.96
R6482:Klrg1 UTSW 6 122271453 nonsense probably null
R7958:Klrg1 UTSW 6 122271372 makesense probably null
Posted On2013-04-17