Incidental Mutation 'R5457:Klra2'
ID 432813
Institutional Source Beutler Lab
Gene Symbol Klra2
Ensembl Gene ENSMUSG00000030187
Gene Name killer cell lectin-like receptor, subfamily A, member 2
Synonyms Ly49b
MMRRC Submission 043020-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5457 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 131196186-131224325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131198852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 230 (S230C)
Ref Sequence ENSEMBL: ENSMUSP00000086252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032306] [ENSMUST00000088867]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032306
SMART Domains Protein: ENSMUSP00000032306
Gene: ENSMUSG00000030187

DomainStartEndE-ValueType
CLECT 137 260 1.17e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000088867
AA Change: S230C

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086252
Gene: ENSMUSG00000030187
AA Change: S230C

DomainStartEndE-ValueType
CLECT 137 293 6.54e-6 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: The gene is a member of the large lectin-like type 2 transmembrane receptor family of the natural killer gene complex. The gene is located distantly telomeric to its family's gene cluster on chromosome 6. The gene differs from the other genes in its cluster as its promoter region contains long and short interspersed repetitive elements suggesting a possible rearrangement or gene conversion. It is unknown whether this gene's encoded protein is involved with natural killer cell differentiation as are its other family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C A 8: 87,236,473 (GRCm39) V1114L probably benign Het
Actr5 G A 2: 158,477,918 (GRCm39) probably null Het
Adcy7 T C 8: 89,037,649 (GRCm39) L239P probably damaging Het
Afg3l1 T A 8: 124,216,707 (GRCm39) F315L possibly damaging Het
Agps A G 2: 75,684,596 (GRCm39) Y188C probably benign Het
Akt1 T C 12: 112,623,525 (GRCm39) T312A probably damaging Het
Ang2 T C 14: 51,433,292 (GRCm39) Y30C probably damaging Het
Angpt1 G A 15: 42,386,916 (GRCm39) T146I probably damaging Het
Atg16l1 T C 1: 87,702,813 (GRCm39) S288P probably damaging Het
Atp1b2 C T 11: 69,493,558 (GRCm39) G4R probably damaging Het
Best3 T C 10: 116,840,416 (GRCm39) F282S probably damaging Het
Cdkn2b A G 4: 89,225,391 (GRCm39) L98P probably damaging Het
Cenps A G 4: 149,216,094 (GRCm39) probably null Het
Clec16a G T 16: 10,363,396 (GRCm39) probably null Het
Cxcl13 A T 5: 96,104,830 (GRCm39) M1L unknown Het
Dcun1d4 A T 5: 73,688,908 (GRCm39) E149D probably damaging Het
Dlst G A 12: 85,168,914 (GRCm39) probably null Het
Dock10 C A 1: 80,501,781 (GRCm39) C1803F probably damaging Het
Dpp10 T A 1: 123,339,539 (GRCm39) K329N possibly damaging Het
Drosha T G 15: 12,926,115 (GRCm39) Y1235D probably benign Het
Eif2s3y G A Y: 1,016,057 (GRCm39) G213D probably damaging Homo
Eps8 A T 6: 137,489,175 (GRCm39) S408T probably damaging Het
Fam171a2 T C 11: 102,328,362 (GRCm39) D799G possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fcrlb T C 1: 170,739,726 (GRCm39) T59A probably damaging Het
Fgd4 T C 16: 16,279,873 (GRCm39) R395G probably benign Het
Gm14496 A T 2: 181,639,401 (GRCm39) D497V probably damaging Het
Gpt2 A C 8: 86,238,967 (GRCm39) N267H possibly damaging Het
Grb14 A T 2: 64,747,442 (GRCm39) C43S probably damaging Het
Hjurp T TN 1: 88,194,247 (GRCm39) probably null Het
Igkv8-16 A G 6: 70,363,689 (GRCm39) V111A possibly damaging Het
Lamb3 G A 1: 193,008,302 (GRCm39) R245H probably damaging Het
Lamc3 A G 2: 31,821,997 (GRCm39) E1315G probably benign Het
Lpin2 A G 17: 71,550,367 (GRCm39) T672A probably damaging Het
Mcoln3 T A 3: 145,833,877 (GRCm39) I139N probably benign Het
Mcpt8 C T 14: 56,319,793 (GRCm39) C219Y probably benign Het
Mtcl3 A C 10: 29,072,720 (GRCm39) I671L probably benign Het
Mug2 G T 6: 122,026,688 (GRCm39) G541* probably null Het
Myo7b G T 18: 32,104,503 (GRCm39) probably null Het
Or10j2 C T 1: 173,098,141 (GRCm39) S133L probably benign Het
Or10j7 A G 1: 173,011,180 (GRCm39) S274P probably damaging Het
Or5ac22 T C 16: 59,135,213 (GRCm39) I186V probably benign Het
Or5k8 A T 16: 58,644,796 (GRCm39) I92N probably damaging Het
Or7e176 A T 9: 20,171,574 (GRCm39) Y146F probably damaging Het
Pclo C T 5: 14,726,157 (GRCm39) probably benign Het
Pdk2 C T 11: 94,919,408 (GRCm39) S289N probably damaging Het
Pex19 G T 1: 171,958,245 (GRCm39) G75W probably damaging Het
Psma3 T G 12: 71,031,339 (GRCm39) S26A probably benign Het
Pth1r A T 9: 110,555,522 (GRCm39) I326N possibly damaging Het
Sbf2 T C 7: 109,912,037 (GRCm39) T1670A probably benign Het
Scn10a A G 9: 119,523,193 (GRCm39) Y67H probably damaging Het
Sec16a A T 2: 26,330,280 (GRCm39) D578E probably benign Het
Spta1 C T 1: 174,044,759 (GRCm39) A1465V probably damaging Het
Taar9 A G 10: 23,985,003 (GRCm39) F144L probably damaging Het
Tal1 T C 4: 114,925,777 (GRCm39) V282A probably benign Het
Tbrg4 C T 11: 6,570,947 (GRCm39) R175Q probably damaging Het
Tdp1 C T 12: 99,861,005 (GRCm39) Q215* probably null Het
Thsd4 A T 9: 59,887,060 (GRCm39) W921R probably damaging Het
Trrap A G 5: 144,786,787 (GRCm39) E3462G probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn T C 2: 76,541,265 (GRCm39) E25580G probably damaging Het
Ttn A T 2: 76,776,299 (GRCm39) I1581N possibly damaging Het
Vmn2r50 T C 7: 9,781,873 (GRCm39) T291A probably damaging Het
Zkscan14 T C 5: 145,138,169 (GRCm39) D106G probably benign Het
Other mutations in Klra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Klra2 APN 6 131,207,180 (GRCm39) missense probably benign 0.11
IGL02280:Klra2 APN 6 131,222,256 (GRCm39) missense probably damaging 1.00
IGL02503:Klra2 APN 6 131,207,057 (GRCm39) missense probably benign 0.10
IGL03120:Klra2 APN 6 131,197,180 (GRCm39) missense probably benign 0.00
FR4449:Klra2 UTSW 6 131,198,809 (GRCm39) frame shift probably null
FR4548:Klra2 UTSW 6 131,198,814 (GRCm39) frame shift probably null
FR4737:Klra2 UTSW 6 131,198,815 (GRCm39) frame shift probably null
R0082:Klra2 UTSW 6 131,197,210 (GRCm39) missense possibly damaging 0.90
R0597:Klra2 UTSW 6 131,197,148 (GRCm39) missense probably benign 0.00
R0606:Klra2 UTSW 6 131,197,187 (GRCm39) missense probably damaging 1.00
R0636:Klra2 UTSW 6 131,197,067 (GRCm39) splice site probably benign
R0800:Klra2 UTSW 6 131,207,137 (GRCm39) nonsense probably null
R1645:Klra2 UTSW 6 131,220,857 (GRCm39) critical splice donor site probably null
R1655:Klra2 UTSW 6 131,197,174 (GRCm39) missense probably damaging 0.96
R1950:Klra2 UTSW 6 131,207,078 (GRCm39) missense probably benign 0.02
R2088:Klra2 UTSW 6 131,219,789 (GRCm39) missense probably damaging 0.99
R2402:Klra2 UTSW 6 131,220,864 (GRCm39) missense probably benign 0.01
R3776:Klra2 UTSW 6 131,219,926 (GRCm39) missense probably benign 0.06
R4131:Klra2 UTSW 6 131,205,180 (GRCm39) missense probably benign 0.03
R4570:Klra2 UTSW 6 131,220,900 (GRCm39) missense probably damaging 1.00
R4585:Klra2 UTSW 6 131,207,120 (GRCm39) missense probably benign 0.11
R4586:Klra2 UTSW 6 131,207,120 (GRCm39) missense probably benign 0.11
R4884:Klra2 UTSW 6 131,207,165 (GRCm39) missense probably damaging 1.00
R4982:Klra2 UTSW 6 131,197,152 (GRCm39) missense probably benign 0.25
R5043:Klra2 UTSW 6 131,197,135 (GRCm39) missense probably benign 0.06
R6526:Klra2 UTSW 6 131,198,839 (GRCm39) missense probably benign 0.21
R6538:Klra2 UTSW 6 131,219,953 (GRCm39) missense probably damaging 0.99
R7393:Klra2 UTSW 6 131,207,165 (GRCm39) missense probably damaging 1.00
R7785:Klra2 UTSW 6 131,222,253 (GRCm39) missense possibly damaging 0.95
R8394:Klra2 UTSW 6 131,222,273 (GRCm39) missense possibly damaging 0.94
R8809:Klra2 UTSW 6 131,197,198 (GRCm39) missense possibly damaging 0.55
R8924:Klra2 UTSW 6 131,205,214 (GRCm39) missense probably benign 0.02
R9467:Klra2 UTSW 6 131,197,070 (GRCm39) critical splice donor site probably null
R9667:Klra2 UTSW 6 131,219,836 (GRCm39) missense probably benign 0.32
R9779:Klra2 UTSW 6 131,198,801 (GRCm39) missense unknown
RF020:Klra2 UTSW 6 131,198,801 (GRCm39) frame shift probably null
RF059:Klra2 UTSW 6 131,198,801 (GRCm39) frame shift probably null
RF064:Klra2 UTSW 6 131,198,802 (GRCm39) frame shift probably null
Z1088:Klra2 UTSW 6 131,205,253 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCATTGTCTTAATAGCCAGG -3'
(R):5'- TGGAATTCTAGATGGTCTTCACC -3'

Sequencing Primer
(F):5'- CTGGTATACAGCTGTAGTCTCAG -3'
(R):5'- GTTCAACACACTGCTTTATTGATTG -3'
Posted On 2016-10-06