Incidental Mutation 'IGL02572:Klrk1'
ID299053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrk1
Ensembl Gene ENSMUSG00000030149
Gene Namekiller cell lectin-like receptor subfamily K, member 1
SynonymsNkg2d, NKG2-D, D6H12S2489E
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.029) question?
Stock #IGL02572
Quality Score
Status
Chromosome6
Chromosomal Location129610323-129623864 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129615353 bp
ZygosityHeterozygous
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]
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: 85,725,171 N92S probably damaging Het
Abca2 T C 2: 25,433,317 L99P possibly damaging Het
Adam19 T A 11: 46,131,721 Y500* probably null Het
Amy1 A T 3: 113,565,073 probably benign Het
Aox3 T C 1: 58,158,367 I624T probably damaging Het
Atad3a C T 4: 155,753,584 D244N possibly damaging Het
Atp5j2 C A 5: 145,187,237 Het
Bbof1 G A 12: 84,428,365 D443N probably damaging Het
BC017158 A T 7: 128,290,580 probably benign Het
Bod1l G A 5: 41,821,230 Q914* probably null Het
C330011M18Rik A G 8: 84,066,579 probably benign Het
Cgref1 A G 5: 30,933,567 V301A probably benign Het
Coa6 T C 8: 126,422,741 Y19H probably damaging Het
Cop1 T A 1: 159,308,878 Het
Dmrta1 T C 4: 89,691,558 S252P probably benign Het
Dnaaf5 T G 5: 139,184,629 S484A probably benign Het
Dspp A T 5: 104,177,069 S433C probably damaging Het
Efcab5 G A 11: 77,137,888 R206* probably null Het
Epop A T 11: 97,628,201 S361T probably benign Het
Fat3 T A 9: 15,960,506 T3530S probably benign Het
Flvcr1 A G 1: 191,025,646 Y108H probably damaging Het
Fsip2 T G 2: 82,992,003 S6027A probably benign Het
Galnt14 A G 17: 73,535,267 L209P probably damaging Het
Hif3a C A 7: 17,050,588 R25L probably null Het
Hsf5 A G 11: 87,631,695 probably benign Het
Il22ra2 A T 10: 19,626,744 T104S probably benign Het
Lrp5 G T 19: 3,614,283 Q815K probably benign Het
Morn4 A G 19: 42,076,447 probably benign Het
Nlrp14 T A 7: 107,182,722 Y375* probably null Het
Nsd1 T A 13: 55,296,130 M1714K probably damaging Het
Olfr171 T A 16: 19,625,098 M1L probably benign Het
Olfr259 G A 2: 87,108,366 T7I possibly damaging Het
Olfr806 T A 10: 129,738,866 D17V possibly damaging Het
Pappa2 C T 1: 158,851,216 A877T probably benign Het
Pcsk2 G A 2: 143,690,342 A137T probably damaging Het
Piezo1 A G 8: 122,485,305 V2054A probably benign Het
Rad52 A G 6: 119,915,227 Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sbno1 A G 5: 124,381,677 Het
Scrn1 C T 6: 54,512,201 D312N probably benign Het
Sin3b A G 8: 72,744,481 Q352R probably benign Het
Slc25a28 A G 19: 43,664,446 Y259H probably damaging Het
Sppl2a T C 2: 126,926,296 M151V probably benign Het
Srrm1 G A 4: 135,325,104 Het
Stra8 G A 6: 34,939,159 D280N probably damaging Het
Thbs2 A T 17: 14,677,013 D744E possibly damaging Het
Tiparp A G 3: 65,531,889 T27A probably benign Het
Tmem38a T C 8: 72,579,974 F99S probably damaging Het
Tmod3 T C 9: 75,509,385 T222A probably benign Het
Tnn A G 1: 160,086,107 I1272T probably damaging Het
Tnpo1 A T 13: 98,849,159 I829N probably damaging Het
Trpm5 A T 7: 143,087,876 probably benign Het
Ttn A G 2: 76,767,871 V19566A probably damaging Het
V1ra8 A G 6: 90,203,058 D81G probably damaging Het
Zdhhc20 A G 14: 57,890,107 V25A probably benign Het
Other mutations in Klrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Klrk1 APN 6 129621244 critical splice acceptor site probably null
R0620:Klrk1 UTSW 6 129614635 missense possibly damaging 0.89
R1709:Klrk1 UTSW 6 129614719 splice site probably null
R5045:Klrk1 UTSW 6 129617503 missense probably benign 0.04
R6943:Klrk1 UTSW 6 129621240 start codon destroyed possibly damaging 0.72
Posted On2015-04-16