Incidental Mutation 'R8055:Klrc2'
ID 619314
Institutional Source Beutler Lab
Gene Symbol Klrc2
Ensembl Gene ENSMUSG00000052736
Gene Name killer cell lectin-like receptor subfamily C, member 2
Synonyms NKG2C
MMRRC Submission 067492-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R8055 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 129626565-129637700 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 129633424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 209 (C209*)
Ref Sequence ENSEMBL: ENSMUSP00000107688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071920] [ENSMUST00000112057] [ENSMUST00000118401] [ENSMUST00000119533] [ENSMUST00000145984]
AlphaFold Q9WTJ9
Predicted Effect probably null
Transcript: ENSMUST00000071920
AA Change: C192*
SMART Domains Protein: ENSMUSP00000071813
Gene: ENSMUSG00000052736
AA Change: C192*

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
CLECT 105 216 1.68e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112057
AA Change: C209*
SMART Domains Protein: ENSMUSP00000107688
Gene: ENSMUSG00000052736
AA Change: C209*

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
CLECT 122 233 1.68e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118401
AA Change: C184*
SMART Domains Protein: ENSMUSP00000113970
Gene: ENSMUSG00000052736
AA Change: C184*

DomainStartEndE-ValueType
transmembrane domain 65 84 N/A INTRINSIC
CLECT 97 208 1.68e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119533
AA Change: C209*
SMART Domains Protein: ENSMUSP00000112733
Gene: ENSMUSG00000052736
AA Change: C209*

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
CLECT 122 233 1.68e-17 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b C A 3: 92,336,139 (GRCm39) G188W unknown Het
Ahcyl1 A T 3: 107,576,047 (GRCm39) D353E probably benign Het
Alk G T 17: 72,206,252 (GRCm39) P1033T probably benign Het
Asb15 G T 6: 24,556,565 (GRCm39) C20F probably benign Het
BC049715 A G 6: 136,816,913 (GRCm39) N51S possibly damaging Het
Ccser1 G A 6: 61,290,757 (GRCm39) V480M possibly damaging Het
Cep295 T C 9: 15,244,905 (GRCm39) N1184D probably benign Het
Cers6 C T 2: 68,777,625 (GRCm39) R111W probably damaging Het
Clybl T A 14: 122,615,273 (GRCm39) D204E probably damaging Het
Cxcl13 T C 5: 96,107,763 (GRCm39) V73A probably benign Het
Dchs2 A G 3: 83,037,032 (GRCm39) N593S probably benign Het
Esco2 A T 14: 66,069,168 (GRCm39) N47K probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fmo4 T C 1: 162,636,015 (GRCm39) T46A probably benign Het
Gm15217 T C 14: 46,616,911 (GRCm39) probably benign Het
Gnb5 G T 9: 75,250,826 (GRCm39) A317S probably benign Het
Klf14 A G 6: 30,934,722 (GRCm39) V304A probably benign Het
Kmt2a A T 9: 44,732,378 (GRCm39) N2646K unknown Het
Krt14 C G 11: 100,095,584 (GRCm39) V274L possibly damaging Het
Myo16 A T 8: 10,612,186 (GRCm39) D1277V unknown Het
Myo9a A T 9: 59,814,743 (GRCm39) E2226D probably damaging Het
Osbpl8 T C 10: 111,120,255 (GRCm39) V631A possibly damaging Het
Piezo2 G A 18: 63,175,882 (GRCm39) S1833L probably damaging Het
Pkp4 T C 2: 59,138,359 (GRCm39) V203A probably benign Het
Primpol T C 8: 47,032,197 (GRCm39) D459G probably benign Het
Prkdc G T 16: 15,634,749 (GRCm39) R3631S probably benign Het
Rbbp8nl T C 2: 179,920,001 (GRCm39) T558A probably benign Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rdx G A 9: 51,997,724 (GRCm39) R566Q probably damaging Het
Rhbdf2 A C 11: 116,498,191 (GRCm39) S3A probably benign Het
Rpap1 A T 2: 119,595,284 (GRCm39) I1319N probably benign Het
Sbno2 T A 10: 79,905,265 (GRCm39) I206F possibly damaging Het
Scn1a A G 2: 66,149,845 (GRCm39) V944A probably damaging Het
Scube1 C T 15: 83,543,226 (GRCm39) probably null Het
Slc22a20 G A 19: 6,021,439 (GRCm39) A521V probably benign Het
Slc6a4 C A 11: 76,901,424 (GRCm39) T53K probably benign Het
Snapc2 G A 8: 4,304,322 (GRCm39) R75Q probably damaging Het
Sptan1 A T 2: 29,884,351 (GRCm39) K662I probably benign Het
Sycp3 T C 10: 88,298,438 (GRCm39) S55P probably damaging Het
Tet2 A T 3: 133,173,753 (GRCm39) V1503D possibly damaging Het
Tfrc T A 16: 32,437,474 (GRCm39) N277K probably benign Het
Tlx3 A T 11: 33,151,283 (GRCm39) V291E probably damaging Het
Tnk1 A T 11: 69,747,327 (GRCm39) H101Q probably benign Het
Tns3 A T 11: 8,495,343 (GRCm39) D70E probably damaging Het
Trip11 C A 12: 101,803,924 (GRCm39) G1938C probably damaging Het
Tubg1 T C 11: 101,014,828 (GRCm39) L190P probably damaging Het
Vmn2r79 A T 7: 86,686,541 (GRCm39) S641C possibly damaging Het
Wnt8b A G 19: 44,481,952 (GRCm39) probably benign Het
Other mutations in Klrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0730:Klrc2 UTSW 6 129,635,659 (GRCm39) missense probably damaging 0.99
R0972:Klrc2 UTSW 6 129,635,726 (GRCm39) missense probably damaging 1.00
R4881:Klrc2 UTSW 6 129,637,471 (GRCm39) missense possibly damaging 0.50
R4988:Klrc2 UTSW 6 129,633,426 (GRCm39) missense probably benign 0.01
R5217:Klrc2 UTSW 6 129,633,843 (GRCm39) missense probably damaging 1.00
R5643:Klrc2 UTSW 6 129,633,420 (GRCm39) missense probably damaging 1.00
R5644:Klrc2 UTSW 6 129,633,420 (GRCm39) missense probably damaging 1.00
R5804:Klrc2 UTSW 6 129,637,436 (GRCm39) missense possibly damaging 0.82
R7583:Klrc2 UTSW 6 129,636,274 (GRCm39) missense probably damaging 0.98
R8489:Klrc2 UTSW 6 129,635,787 (GRCm39) missense probably benign 0.10
R9043:Klrc2 UTSW 6 129,635,741 (GRCm39) missense probably damaging 1.00
R9467:Klrc2 UTSW 6 129,633,363 (GRCm39) missense probably damaging 1.00
R9547:Klrc2 UTSW 6 129,633,812 (GRCm39) missense probably benign
R9699:Klrc2 UTSW 6 129,637,452 (GRCm39) missense possibly damaging 0.57
R9703:Klrc2 UTSW 6 129,633,407 (GRCm39) nonsense probably null
Z1177:Klrc2 UTSW 6 129,637,380 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCTTCTGCATAAAGCCTGC -3'
(R):5'- GTTGGCTTTCATAACAGTTACCTC -3'

Sequencing Primer
(F):5'- GGAGTATCTTGAGCAAAAAGACTC -3'
(R):5'- ACCTCTTACCACATTTTTAGTGAGG -3'
Posted On 2020-01-23