Incidental Mutation 'R8394:Klra2'
ID 647525
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 067758-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R8394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 131196186-131224325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131222273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 6 (V6D)
Ref Sequence ENSEMBL: ENSMUSP00000032306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032306] [ENSMUST00000088867]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032306
AA Change: V6D

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032306
Gene: ENSMUSG00000030187
AA Change: V6D

DomainStartEndE-ValueType
CLECT 137 260 1.17e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000088867
AA Change: V6D

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086252
Gene: ENSMUSG00000030187
AA Change: V6D

DomainStartEndE-ValueType
CLECT 137 293 6.54e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,379,623 (GRCm39) N137S probably benign Het
4930505A04Rik T A 11: 30,404,880 (GRCm39) probably null Het
Abcc8 A G 7: 45,803,977 (GRCm39) I399T probably benign Het
Aldh3b2 A C 19: 4,029,461 (GRCm39) Q278P probably benign Het
Arl8b A G 6: 108,760,244 (GRCm39) D10G possibly damaging Het
Baiap3 T C 17: 25,469,096 (GRCm39) N229S probably benign Het
Chrdl2 T C 7: 99,666,292 (GRCm39) S71P possibly damaging Het
Cmbl A G 15: 31,585,541 (GRCm39) M142V possibly damaging Het
Cpt1b A G 15: 89,306,490 (GRCm39) probably null Het
Crybg3 T C 16: 59,378,651 (GRCm39) K868E probably benign Het
Efl1 A G 7: 82,411,986 (GRCm39) I792V probably benign Het
Evx2 A G 2: 74,486,321 (GRCm39) L356S probably benign Het
Hspa14 C T 2: 3,513,670 (GRCm39) probably null Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Il7r A G 15: 9,516,504 (GRCm39) F99S probably damaging Het
Lce3c T C 3: 92,852,760 (GRCm39) S74P unknown Het
Nectin2 C T 7: 19,467,137 (GRCm39) probably null Het
Nfil3 A G 13: 53,121,849 (GRCm39) S352P probably benign Het
Nme6 T A 9: 109,664,394 (GRCm39) M1K probably null Het
Or52z13 A T 7: 103,247,404 (GRCm39) I294F probably damaging Het
Otogl A G 10: 107,722,326 (GRCm39) probably null Het
Plcb1 T C 2: 135,159,710 (GRCm39) V391A probably damaging Het
Ptf1a T A 2: 19,450,746 (GRCm39) D25E probably damaging Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Scube1 T C 15: 83,492,492 (GRCm39) Y944C probably damaging Het
Sdk2 A G 11: 113,729,542 (GRCm39) I1039T probably benign Het
Senp7 G T 16: 55,990,190 (GRCm39) W646L possibly damaging Het
Sphkap A T 1: 83,253,797 (GRCm39) N1317K probably benign Het
Strc G T 2: 121,209,490 (GRCm39) Q278K probably benign Het
Tbc1d30 T A 10: 121,183,013 (GRCm39) R142* probably null Het
Tmtc3 T C 10: 100,282,808 (GRCm39) I916V probably damaging Het
Tomm40l A T 1: 171,048,776 (GRCm39) H79Q probably damaging Het
Txndc12 T A 4: 108,713,420 (GRCm39) probably null Het
Vmn2r2 T C 3: 64,044,858 (GRCm39) N96S probably damaging Het
Vmn2r27 T C 6: 124,168,776 (GRCm39) T785A possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp462 A G 4: 55,011,862 (GRCm39) D1276G probably damaging 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
R5457:Klra2 UTSW 6 131,198,852 (GRCm39) missense possibly damaging 0.92
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
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'- TCCTCTGTTATCAGCTAAGAGCC -3'
(R):5'- TGCAAAGAGGTCTCACTTGTG -3'

Sequencing Primer
(F):5'- CTGTTATCAGCTAAGAGCCAATAGG -3'
(R):5'- CACTTGTGTGTGAGGAAATCAGAGTC -3'
Posted On 2020-09-02