Incidental Mutation 'IGL02634:Klrc3'
ID 301416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klrc3
Ensembl Gene ENSMUSG00000033027
Gene Name killer cell lectin-like receptor subfamily C, member 3
Synonyms NKG2E
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02634
Quality Score
Status
Chromosome 6
Chromosomal Location 129616027-129620300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129620171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 27 (S27R)
Ref Sequence ENSEMBL: ENSMUSP00000144993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071149] [ENSMUST00000145984] [ENSMUST00000170148] [ENSMUST00000203189]
AlphaFold Q9QXN7
Predicted Effect possibly damaging
Transcript: ENSMUST00000071149
AA Change: S27R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071147
Gene: ENSMUSG00000033027
AA Change: S27R

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
CLECT 105 216 1.96e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145984
SMART Domains Protein: ENSMUSP00000116286
Gene: ENSMUSG00000052736

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
CLECT 122 206 3.11e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000170148
AA Change: S27R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129830
Gene: ENSMUSG00000033027
AA Change: S27R

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
CLECT 97 208 1.96e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203189
AA Change: S27R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144993
Gene: ENSMUSG00000033027
AA Change: S27R

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T A 11: 50,683,548 (GRCm39) C943* probably null Het
Arhgef28 A T 13: 98,187,566 (GRCm39) V243D probably benign Het
Arrdc3 T A 13: 81,038,884 (GRCm39) I62K probably damaging Het
Atm T C 9: 53,427,863 (GRCm39) T416A probably benign Het
AW209491 A G 13: 14,812,268 (GRCm39) T374A probably damaging Het
Brcc3 T C X: 74,479,704 (GRCm39) probably benign Het
Ccdc181 T G 1: 164,107,514 (GRCm39) S66A probably benign Het
Ccdc62 T C 5: 124,092,320 (GRCm39) I435T probably benign Het
Cdc14b C A 13: 64,364,117 (GRCm39) probably benign Het
Chst5 A G 8: 112,617,477 (GRCm39) S48P probably damaging Het
Ciita C A 16: 10,326,577 (GRCm39) S253Y probably damaging Het
Dock7 C T 4: 98,877,533 (GRCm39) R1005H probably damaging Het
Dsg4 A T 18: 20,591,637 (GRCm39) I459F probably benign Het
Enpep T C 3: 129,103,506 (GRCm39) E361G probably damaging Het
Fblim1 T C 4: 141,310,422 (GRCm39) D280G probably benign Het
Fignl1 G A 11: 11,752,756 (GRCm39) R100* probably null Het
Ggcx G T 6: 72,395,286 (GRCm39) A126S probably damaging Het
Hdgfl1 A G 13: 26,953,786 (GRCm39) S96P probably benign Het
Iqgap2 G A 13: 95,764,622 (GRCm39) L1541F probably damaging Het
Itga8 T C 2: 12,145,289 (GRCm39) E888G possibly damaging Het
Kank4 T A 4: 98,667,064 (GRCm39) Q461L probably benign Het
Klhl20 C T 1: 160,925,935 (GRCm39) V438M probably damaging Het
Ksr2 T C 5: 117,901,394 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,389,938 (GRCm39) S1829N probably benign Het
Obscn A G 11: 58,945,611 (GRCm39) L4585P probably damaging Het
Or5p57 T C 7: 107,665,978 (GRCm39) N9S probably benign Het
Palm3 T G 8: 84,755,494 (GRCm39) S335R probably damaging Het
Pcsk7 C T 9: 45,830,560 (GRCm39) A446V possibly damaging Het
Penk A G 4: 4,134,065 (GRCm39) L194P possibly damaging Het
Pkhd1l1 T C 15: 44,403,063 (GRCm39) F2255S probably damaging Het
Plcd3 G A 11: 102,968,653 (GRCm39) S31F probably damaging Het
Pou2af2 A G 9: 51,203,055 (GRCm39) L33P possibly damaging Het
Ppp6r2 C T 15: 89,159,680 (GRCm39) Q456* probably null Het
Rbbp8nl T C 2: 179,922,688 (GRCm39) D235G probably benign Het
Ror1 T A 4: 100,283,307 (GRCm39) N457K probably benign Het
Rpgrip1l C A 8: 91,951,972 (GRCm39) probably benign Het
Sdk1 T C 5: 141,595,787 (GRCm39) F148L probably benign Het
Slc45a2 A T 15: 11,023,440 (GRCm39) H348L probably benign Het
Smg8 C T 11: 86,977,498 (GRCm39) A28T probably benign Het
Snx14 A G 9: 88,285,356 (GRCm39) I436T probably damaging Het
Synj2 G A 17: 6,080,035 (GRCm39) R1088H probably damaging Het
Tubb6 T C 18: 67,535,366 (GRCm39) Y422H probably damaging Het
Unc13a T A 8: 72,108,345 (GRCm39) I503F probably benign Het
Unc13d A G 11: 115,961,382 (GRCm39) probably benign Het
Zp1 T C 19: 10,896,871 (GRCm39) probably benign Het
Other mutations in Klrc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Klrc3 APN 6 129,618,389 (GRCm39) missense probably damaging 1.00
IGL01311:Klrc3 APN 6 129,618,375 (GRCm39) missense probably damaging 1.00
IGL02806:Klrc3 APN 6 129,616,065 (GRCm39) missense possibly damaging 0.52
R1568:Klrc3 UTSW 6 129,616,510 (GRCm39) missense probably benign 0.01
R2132:Klrc3 UTSW 6 129,618,501 (GRCm39) missense probably benign
R2517:Klrc3 UTSW 6 129,616,520 (GRCm39) missense probably damaging 1.00
R3833:Klrc3 UTSW 6 129,620,181 (GRCm39) missense probably damaging 0.99
R4355:Klrc3 UTSW 6 129,616,125 (GRCm39) missense probably benign 0.09
R5085:Klrc3 UTSW 6 129,616,538 (GRCm39) missense probably damaging 0.99
R5247:Klrc3 UTSW 6 129,618,425 (GRCm39) missense probably damaging 1.00
R5426:Klrc3 UTSW 6 129,618,513 (GRCm39) missense probably benign 0.04
R7557:Klrc3 UTSW 6 129,616,107 (GRCm39) missense probably damaging 0.99
R9168:Klrc3 UTSW 6 129,616,142 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16