Incidental Mutation 'R9456:Klre1'
ID 714578
Institutional Source Beutler Lab
Gene Symbol Klre1
Ensembl Gene ENSMUSG00000050241
Gene Name killer cell lectin-like receptor family E member 1
Synonyms NKG2I, Klre-1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 129554868-129562790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129559368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 99 (R99S)
Ref Sequence ENSEMBL: ENSMUSP00000055779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053708] [ENSMUST00000203322]
AlphaFold Q8CJC7
Predicted Effect probably benign
Transcript: ENSMUST00000053708
AA Change: R99S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000055779
Gene: ENSMUSG00000050241
AA Change: R99S

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
CLECT 113 225 5.69e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203322
SMART Domains Protein: ENSMUSP00000145085
Gene: ENSMUSG00000050241

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and fertile and display impaired natural killer cell mediated allogeneic cytotoxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T C 18: 10,645,121 (GRCm39) D391G probably benign Het
Arhgdia A C 11: 120,470,068 (GRCm39) W202G probably damaging Het
Atp2a3 A T 11: 72,871,131 (GRCm39) D575V probably benign Het
Cep350 C A 1: 155,744,457 (GRCm39) V2121L probably benign Het
Clcn2 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 20,534,702 (GRCm39) probably benign Het
Cldn9 A T 17: 23,902,556 (GRCm39) V23E probably damaging Het
Cltc G A 11: 86,593,237 (GRCm39) S1542F probably benign Het
Cmbl A G 15: 31,589,948 (GRCm39) D226G probably damaging Het
Dennd4b C T 3: 90,178,515 (GRCm39) T537I probably damaging Het
Dnah7b C A 1: 46,165,953 (GRCm39) D539E possibly damaging Het
Fam219a T C 4: 41,521,871 (GRCm39) T70A probably damaging Het
Fat4 T A 3: 38,942,571 (GRCm39) V488E possibly damaging Het
Gm3336 A G 8: 71,174,740 (GRCm39) *96W probably null Het
Hectd1 A G 12: 51,832,584 (GRCm39) I930T probably benign Het
Hmcn1 A T 1: 150,506,053 (GRCm39) C3824* probably null Het
Ift140 T C 17: 25,254,758 (GRCm39) F413L probably benign Het
Itfg1 A G 8: 86,565,566 (GRCm39) V90A probably benign Het
Jph4 A T 14: 55,351,090 (GRCm39) W309R probably damaging Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Klhl5 T C 5: 65,305,939 (GRCm39) F302S probably damaging Het
Klk1b8 T C 7: 43,453,177 (GRCm39) M256T probably benign Het
Krt79 T C 15: 101,839,904 (GRCm39) T364A probably benign Het
Lin7a C T 10: 107,218,483 (GRCm39) P131L possibly damaging Het
Lrrc49 A G 9: 60,594,699 (GRCm39) Y9H probably benign Het
Lrrc8a T A 2: 30,145,663 (GRCm39) I159N probably damaging Het
Mdga2 T C 12: 66,615,532 (GRCm39) S692G probably benign Het
Myo15a G A 11: 60,392,668 (GRCm39) V1017M Het
Nol4 T C 18: 23,172,897 (GRCm39) D68G probably benign Het
Or4f53 T C 2: 111,088,348 (GRCm39) V296A probably benign Het
Or6c75 T C 10: 129,337,515 (GRCm39) V254A probably damaging Het
Pigw C A 11: 84,768,040 (GRCm39) A430S probably benign Het
Pla2g4c T C 7: 13,077,900 (GRCm39) L356P probably damaging Het
Prorp T C 12: 55,385,015 (GRCm39) V410A probably damaging Het
Prr5 A G 15: 84,585,682 (GRCm39) T226A probably benign Het
Pygo1 C T 9: 72,833,056 (GRCm39) probably benign Het
Rnf214 A G 9: 45,779,286 (GRCm39) I333T possibly damaging Het
Septin3 A G 15: 82,167,352 (GRCm39) I86V probably benign Het
Slc30a3 AGGGCTTACCTGAGCGG AGG 5: 31,246,889 (GRCm39) probably null Het
Socs5 C A 17: 87,442,266 (GRCm39) T402K probably damaging Het
Speer3 T A 5: 13,846,368 (GRCm39) N229K Het
Stk16 T C 1: 75,187,804 (GRCm39) probably benign Het
Taar7d T A 10: 23,903,287 (GRCm39) F56L probably benign Het
Tmprss2 C T 16: 97,392,669 (GRCm39) V93I probably benign Het
Tnpo2 G A 8: 85,774,015 (GRCm39) E350K probably benign Het
Tor1aip2 C T 1: 155,937,525 (GRCm39) P87S possibly damaging Het
Trgv7 A T 13: 19,362,385 (GRCm39) R25* probably null Het
Ush2a A G 1: 188,558,589 (GRCm39) E3606G probably benign Het
Zeb1 C T 18: 5,766,709 (GRCm39) Q407* probably null Het
Zfp609 A G 9: 65,611,125 (GRCm39) S613P Het
Zfp735 A G 11: 73,602,403 (GRCm39) N449S possibly damaging Het
Other mutations in Klre1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Klre1 APN 6 129,561,133 (GRCm39) missense possibly damaging 0.78
IGL01677:Klre1 APN 6 129,559,006 (GRCm39) missense probably damaging 0.99
IGL03329:Klre1 APN 6 129,562,660 (GRCm39) utr 3 prime probably benign
R0533:Klre1 UTSW 6 129,560,156 (GRCm39) missense probably damaging 1.00
R0731:Klre1 UTSW 6 129,562,531 (GRCm39) splice site probably benign
R0961:Klre1 UTSW 6 129,559,378 (GRCm39) missense probably benign 0.01
R2151:Klre1 UTSW 6 129,556,996 (GRCm39) missense possibly damaging 0.94
R2266:Klre1 UTSW 6 129,562,593 (GRCm39) missense probably benign 0.00
R3982:Klre1 UTSW 6 129,560,101 (GRCm39) nonsense probably null
R4791:Klre1 UTSW 6 129,561,118 (GRCm39) missense probably damaging 1.00
R4901:Klre1 UTSW 6 129,561,188 (GRCm39) missense probably benign 0.27
R6713:Klre1 UTSW 6 129,559,229 (GRCm39) splice site probably null
R6845:Klre1 UTSW 6 129,561,202 (GRCm39) missense probably damaging 0.98
R7141:Klre1 UTSW 6 129,560,129 (GRCm39) missense probably damaging 1.00
R7593:Klre1 UTSW 6 129,560,150 (GRCm39) missense probably damaging 1.00
R8108:Klre1 UTSW 6 129,561,185 (GRCm39) missense probably benign 0.05
R8393:Klre1 UTSW 6 129,557,025 (GRCm39) missense probably damaging 0.98
R8401:Klre1 UTSW 6 129,556,989 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCTCTGGGTACAGTTGATATGC -3'
(R):5'- AGGTTGTTAAATGTCTGGGACC -3'

Sequencing Primer
(F):5'- GCTTGGATGTCTGGTACCATTAC -3'
(R):5'- GTTAAATGTCTGGGACCATGTC -3'
Posted On 2022-06-15