Incidental Mutation 'IGL02572:Klrk1'
ID 299053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrk1
Ensembl Gene ENSMUSG00000030149
Gene Name killer cell lectin-like receptor subfamily K, member 1
Synonyms NKG2-D, Nkg2d, D6H12S2489E
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02572
Quality Score
Status
Chromosome 6
Chromosomal Location 129587286-129600827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129592316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 138 (S138P)
Ref Sequence ENSEMBL: ENSMUSP00000130398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032252] [ENSMUST00000095412] [ENSMUST00000168919]
AlphaFold O54709
Predicted Effect probably damaging
Transcript: ENSMUST00000032252
AA Change: S145P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032252
Gene: ENSMUSG00000030149
AA Change: S145P

DomainStartEndE-ValueType
transmembrane domain 67 89 N/A INTRINSIC
CLECT 115 228 7.49e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095412
AA Change: S132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093061
Gene: ENSMUSG00000030149
AA Change: S132P

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 probably damaging
Transcript: ENSMUST00000168919
AA Change: S138P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130398
Gene: ENSMUSG00000030149
AA Change: S138P

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 108 221 7.49e-24 SMART
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,652,892 (GRCm39) N92S probably damaging Het
Abca2 T C 2: 25,323,329 (GRCm39) L99P possibly damaging Het
Adam19 T A 11: 46,022,548 (GRCm39) Y500* probably null Het
Amy1 A T 3: 113,358,722 (GRCm39) probably benign Het
Aox3 T C 1: 58,197,526 (GRCm39) I624T probably damaging Het
Atad3a C T 4: 155,838,041 (GRCm39) D244N possibly damaging Het
Atp5mf C A 5: 145,124,047 (GRCm39) probably benign Het
Bbof1 G A 12: 84,475,139 (GRCm39) D443N probably damaging Het
Bod1l G A 5: 41,978,573 (GRCm39) Q914* probably null Het
C330011M18Rik A G 8: 84,793,208 (GRCm39) probably benign Het
Cgref1 A G 5: 31,090,911 (GRCm39) V301A probably benign Het
Coa6 T C 8: 127,149,480 (GRCm39) Y19H probably damaging Het
Cop1 T A 1: 159,136,448 (GRCm39) probably benign Het
Dmrta1 T C 4: 89,579,795 (GRCm39) S252P probably benign Het
Dnaaf5 T G 5: 139,170,384 (GRCm39) S484A probably benign Het
Dspp A T 5: 104,324,935 (GRCm39) S433C probably damaging Het
Efcab5 G A 11: 77,028,714 (GRCm39) R206* probably null Het
Epop A T 11: 97,519,027 (GRCm39) S361T probably benign Het
Fat3 T A 9: 15,871,802 (GRCm39) T3530S probably benign Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fsip2 T G 2: 82,822,347 (GRCm39) S6027A probably benign Het
Galnt14 A G 17: 73,842,262 (GRCm39) L209P probably damaging Het
Hif3a C A 7: 16,784,513 (GRCm39) R25L probably null Het
Hsf5 A G 11: 87,522,521 (GRCm39) probably benign Het
Il22ra2 A T 10: 19,502,492 (GRCm39) T104S probably benign Het
Lrp5 G T 19: 3,664,283 (GRCm39) Q815K probably benign Het
Morn4 A G 19: 42,064,886 (GRCm39) probably benign Het
Nlrp14 T A 7: 106,781,929 (GRCm39) Y375* probably null Het
Nsd1 T A 13: 55,443,943 (GRCm39) M1714K probably damaging Het
Or2aj6 T A 16: 19,443,848 (GRCm39) M1L probably benign Het
Or5aq7 G A 2: 86,938,710 (GRCm39) T7I possibly damaging Het
Or6c213 T A 10: 129,574,735 (GRCm39) D17V possibly damaging Het
Pappa2 C T 1: 158,678,786 (GRCm39) A877T probably benign Het
Pcsk2 G A 2: 143,532,262 (GRCm39) A137T probably damaging Het
Piezo1 A G 8: 123,212,044 (GRCm39) V2054A probably benign Het
Rad52 A G 6: 119,892,188 (GRCm39) probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rusf1 A T 7: 127,889,752 (GRCm39) probably benign Het
Sbno1 A G 5: 124,519,740 (GRCm39) probably benign Het
Scrn1 C T 6: 54,489,186 (GRCm39) D312N probably benign Het
Sin3b A G 8: 73,471,109 (GRCm39) Q352R probably benign Het
Slc25a28 A G 19: 43,652,885 (GRCm39) Y259H probably damaging Het
Sppl2a T C 2: 126,768,216 (GRCm39) M151V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stra8 G A 6: 34,916,094 (GRCm39) D280N probably damaging Het
Thbs2 A T 17: 14,897,275 (GRCm39) D744E possibly damaging Het
Tiparp A G 3: 65,439,310 (GRCm39) T27A probably benign Het
Tmem38a T C 8: 73,333,818 (GRCm39) F99S probably damaging Het
Tmod3 T C 9: 75,416,667 (GRCm39) T222A probably benign Het
Tnn A G 1: 159,913,677 (GRCm39) I1272T probably damaging Het
Tnpo1 A T 13: 98,985,667 (GRCm39) I829N probably damaging Het
Trpm5 A T 7: 142,641,613 (GRCm39) probably benign Het
Ttn A G 2: 76,598,215 (GRCm39) V19566A probably damaging Het
V1ra8 A G 6: 90,180,040 (GRCm39) D81G probably damaging Het
Zdhhc20 A G 14: 58,127,564 (GRCm39) V25A probably benign Het
Other mutations in Klrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Klrk1 APN 6 129,598,207 (GRCm39) critical splice acceptor site probably null
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
R6943:Klrk1 UTSW 6 129,598,203 (GRCm39) start codon destroyed possibly damaging 0.72
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
Posted On 2015-04-16