Incidental Mutation 'R2088:Klra2'
ID 231585
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 040093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R2088 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 131196186-131224325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131219789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 131 (T131A)
Ref Sequence ENSEMBL: ENSMUSP00000086252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032306] [ENSMUST00000088867]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032306
AA Change: T131A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032306
Gene: ENSMUSG00000030187
AA Change: T131A

DomainStartEndE-ValueType
CLECT 137 260 1.17e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088867
AA Change: T131A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086252
Gene: ENSMUSG00000030187
AA Change: T131A

DomainStartEndE-ValueType
CLECT 137 293 6.54e-6 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (66/68)
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
Ankk1 T C 9: 49,333,265 (GRCm39) probably benign Het
Ano5 T A 7: 51,237,454 (GRCm39) N759K possibly damaging Het
Arhgef10 A G 8: 15,033,898 (GRCm39) T1072A possibly damaging Het
BC107364 T C 3: 96,341,745 (GRCm39) T93A unknown Het
Canx C T 11: 50,201,217 (GRCm39) E97K possibly damaging Het
Casp8ap2 T C 4: 32,631,126 (GRCm39) L62P probably damaging Het
Cbfa2t3 C T 8: 123,364,725 (GRCm39) probably benign Het
Cmklr2 A T 1: 63,222,811 (GRCm39) probably null Het
Cmya5 A T 13: 93,229,320 (GRCm39) S1923T probably damaging Het
Cntnap1 T A 11: 101,073,373 (GRCm39) I618N probably damaging Het
Cox17 C G 16: 38,167,542 (GRCm39) P27R probably damaging Het
Ctnna3 A G 10: 64,708,986 (GRCm39) E675G probably damaging Het
Cul9 A G 17: 46,837,575 (GRCm39) L990P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eif2d T C 1: 131,092,464 (GRCm39) V374A probably damaging Het
Fhdc1 T C 3: 84,382,033 (GRCm39) probably benign Het
Fryl T A 5: 73,222,804 (GRCm39) I1926F probably benign Het
Galnt4 A G 10: 98,945,046 (GRCm39) D257G probably damaging Het
Gatm A G 2: 122,428,629 (GRCm39) V344A probably benign Het
Gli1 T G 10: 127,167,369 (GRCm39) Y628S probably damaging Het
Gsdmc3 A C 15: 63,732,063 (GRCm39) probably null Het
Hap1 T C 11: 100,246,828 (GRCm39) T26A probably benign Het
Helz2 C T 2: 180,876,895 (GRCm39) G1200S probably benign Het
Insyn1 T C 9: 58,406,288 (GRCm39) F66S probably damaging Het
Iqgap2 C T 13: 96,028,171 (GRCm39) probably null Het
Itga3 T A 11: 94,943,320 (GRCm39) I895F probably benign Het
Klhl33 A T 14: 51,130,230 (GRCm39) C421* probably null Het
Krt14 T C 11: 100,094,949 (GRCm39) E426G possibly damaging Het
Limd2 A G 11: 106,049,568 (GRCm39) F107L probably damaging Het
Lipo4 A T 19: 33,477,469 (GRCm39) N318K possibly damaging Het
Mab21l2 T G 3: 86,454,316 (GRCm39) D228A probably damaging Het
Moxd2 G A 6: 40,861,901 (GRCm39) H224Y probably damaging Het
Mpp4 T C 1: 59,162,624 (GRCm39) Y521C possibly damaging Het
Msto1 C T 3: 88,818,297 (GRCm39) A317T probably damaging Het
Mtmr4 T C 11: 87,501,793 (GRCm39) S559P probably damaging Het
Muc4 T A 16: 32,576,783 (GRCm39) H2094Q unknown Het
Ndufa11 C A 17: 57,024,922 (GRCm39) T28K probably damaging Het
Or2b4 A G 17: 38,116,686 (GRCm39) T217A probably benign Het
Or4f4b G T 2: 111,314,623 (GRCm39) A283S probably damaging Het
Orai2 C A 5: 136,179,610 (GRCm39) R155L probably damaging Het
Pde4c A G 8: 71,202,005 (GRCm39) D582G possibly damaging Het
Pde4dip T C 3: 97,661,749 (GRCm39) E609G probably null Het
Prune2 A G 19: 17,097,109 (GRCm39) D871G possibly damaging Het
Rbpms2 T A 9: 65,538,121 (GRCm39) L4Q probably damaging Het
Rhbg T C 3: 88,154,765 (GRCm39) Y213C probably damaging Het
Rplp0 T A 5: 115,700,562 (GRCm39) N243K possibly damaging Het
Rtp4 A T 16: 23,431,963 (GRCm39) H165L possibly damaging Het
Ryr2 C A 13: 11,677,115 (GRCm39) M3245I probably benign Het
Sh2b2 T A 5: 136,260,968 (GRCm39) M83L possibly damaging Het
Simc1 T C 13: 54,689,347 (GRCm39) I284T probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc46a1 T C 11: 78,359,471 (GRCm39) S368P possibly damaging Het
St6galnac1 A G 11: 116,659,933 (GRCm39) S127P probably benign Het
Tatdn3 A G 1: 190,785,073 (GRCm39) I192T possibly damaging Het
Tmem25 C A 9: 44,707,383 (GRCm39) V239F possibly damaging Het
Tprkb A C 6: 85,909,922 (GRCm39) probably benign Het
Trappc10 A G 10: 78,032,168 (GRCm39) V1040A probably benign Het
Txnrd1 G A 10: 82,719,744 (GRCm39) probably benign Het
Uhrf1 A T 17: 56,625,089 (GRCm39) K544M probably damaging Het
Unc80 T A 1: 66,629,386 (GRCm39) H1294Q possibly damaging Het
Uspl1 T A 5: 149,146,560 (GRCm39) I437K probably damaging Het
Vmn1r232 A T 17: 21,133,999 (GRCm39) N200K possibly damaging Het
Vmn2r19 A T 6: 123,312,795 (GRCm39) I622F probably damaging Het
Znfx1 A G 2: 166,897,730 (GRCm39) F398S 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
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
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'- AGCTAGAATGGCCATTGAGTTC -3'
(R):5'- GGTTGTCAACATGGGCTTTATCTC -3'

Sequencing Primer
(F):5'- CCAAACAGATATTTCTAGGGTTCCAG -3'
(R):5'- GTCAACATGGGCTTTATCTCAAATC -3'
Posted On 2014-09-18