Incidental Mutation 'R9779:Klra2'
ID 733903
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R9779 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 131196186-131224325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 131198801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 247 (P247S)
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 unknown
Transcript: ENSMUST00000088867
AA Change: P247S
SMART Domains Protein: ENSMUSP00000086252
Gene: ENSMUSG00000030187
AA Change: P247S

DomainStartEndE-ValueType
CLECT 137 293 6.54e-6 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.6%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T G 11: 53,263,734 (GRCm39) Y251* probably null Het
Amdhd1 G T 10: 93,370,474 (GRCm39) F121L possibly damaging Het
Apon A T 10: 128,091,065 (GRCm39) T248S probably benign Het
Arhgap28 A T 17: 68,152,764 (GRCm39) I719K probably benign Het
Atf7ip2 A T 16: 10,055,044 (GRCm39) K270N possibly damaging Het
Atp2c1 A G 9: 105,291,919 (GRCm39) V881A probably damaging Het
Atp6v0a1 C T 11: 100,924,938 (GRCm39) T341M probably damaging Het
Cep192 T C 18: 67,968,348 (GRCm39) V944A probably damaging Het
Cplane1 C A 15: 8,230,786 (GRCm39) T1021K possibly damaging Het
Cyp26b1 T C 6: 84,552,113 (GRCm39) T342A probably benign Het
Cyp2c37 A G 19: 39,998,323 (GRCm39) E405G probably benign Het
Dab2 T C 15: 6,460,525 (GRCm39) S478P probably benign Het
Diablo A G 5: 123,662,132 (GRCm39) probably null Het
Dnajc8 A G 4: 132,277,737 (GRCm39) E174G possibly damaging Het
Eif4g1 T C 16: 20,498,251 (GRCm39) V336A probably damaging Het
Eif5a C T 11: 69,810,021 (GRCm39) V41I probably benign Het
Epb41l5 C T 1: 119,545,093 (GRCm39) probably null Het
F12 A C 13: 55,566,012 (GRCm39) V565G probably damaging Het
Fras1 C A 5: 96,717,353 (GRCm39) T389N probably damaging Het
Galnt13 T A 2: 54,623,062 (GRCm39) D69E probably benign Het
Golph3l C T 3: 95,499,041 (GRCm39) T61I probably damaging Het
Grm3 A T 5: 9,561,656 (GRCm39) N731K possibly damaging Het
Hmgxb4 C T 8: 75,750,629 (GRCm39) S484F possibly damaging Het
Hsd17b11 C A 5: 104,157,771 (GRCm39) V114F probably damaging Het
Hspa1a C T 17: 35,190,778 (GRCm39) V42M probably damaging Het
Igf1r A G 7: 67,654,065 (GRCm39) Y201C probably damaging Het
Inf2 C A 12: 112,574,786 (GRCm39) P786T unknown Het
Ints12 T G 3: 132,812,752 (GRCm39) V236G probably benign Het
Itga2b T C 11: 102,348,147 (GRCm39) N818S probably damaging Het
Itgb4 T C 11: 115,882,485 (GRCm39) L853P probably damaging Het
Kap A G 6: 133,829,006 (GRCm39) V42A probably benign Het
Kcnk1 T C 8: 126,751,807 (GRCm39) S138P probably damaging Het
Lrba T C 3: 86,233,078 (GRCm39) I813T probably damaging Het
Lrrc27 A T 7: 138,816,886 (GRCm39) Q428L possibly damaging Het
Macf1 G A 4: 123,348,789 (GRCm39) T4046I probably benign Het
Mast3 T C 8: 71,238,127 (GRCm39) T521A probably damaging Het
Meox1 T C 11: 101,769,470 (GRCm39) E242G probably benign Het
Neo1 A T 9: 58,886,009 (GRCm39) L316* probably null Het
Notch3 A G 17: 32,372,757 (GRCm39) Y605H probably damaging Het
Nsf T C 11: 103,719,352 (GRCm39) D650G probably damaging Het
Obscn C A 11: 59,026,441 (GRCm39) R254L probably benign Het
Odam G A 5: 88,037,327 (GRCm39) probably null Het
Or5v1b A T 17: 37,841,048 (GRCm39) Y60F probably damaging Het
Or7g12 A T 9: 18,900,135 (GRCm39) M284L probably benign Het
Pcdhb9 A T 18: 37,535,253 (GRCm39) M416L probably benign Het
Plcz1 A T 6: 139,947,882 (GRCm39) I500N possibly damaging Het
Prkn T C 17: 11,854,318 (GRCm39) S285P possibly damaging Het
Rab14 G A 2: 35,080,047 (GRCm39) T50I Het
Rag1 A T 2: 101,474,153 (GRCm39) Y330N probably damaging Het
Rapgef3 T C 15: 97,643,479 (GRCm39) I911V probably damaging Het
Rasgrf1 G T 9: 89,873,551 (GRCm39) C620F probably damaging Het
Rhbdl3 A G 11: 80,214,317 (GRCm39) T143A probably damaging Het
Robo2 A C 16: 73,767,965 (GRCm39) M609R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc49a4 T C 16: 35,543,186 (GRCm39) D316G probably benign Het
Sod3 G A 5: 52,525,435 (GRCm39) V45I probably benign Het
Ticrr A G 7: 79,328,802 (GRCm39) D647G probably benign Het
Tmem119 G A 5: 113,933,204 (GRCm39) S199L possibly damaging Het
Tmem63c T A 12: 87,104,419 (GRCm39) I80N probably damaging Het
Trp53bp1 A T 2: 121,066,469 (GRCm39) D752E probably damaging Het
Ttn A G 2: 76,550,570 (GRCm39) S31571P probably damaging Het
Ttn A T 2: 76,667,146 (GRCm39) S11487T unknown Het
Vmn1r123 T C 7: 20,896,111 (GRCm39) M1T probably null Het
Vmn1r85 A T 7: 12,818,308 (GRCm39) S279T probably benign Het
Vps13d A G 4: 144,798,972 (GRCm39) V3635A Het
Wdr95 A G 5: 149,505,293 (GRCm39) D358G probably benign Het
Zfp1005 A G 2: 150,108,064 (GRCm39) D8G possibly damaging Het
Zfp764l1 A T 7: 126,991,469 (GRCm39) C173S 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
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
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'- GCAGAACATGTCAGACAGCC -3'
(R):5'- GGTTAATGTGTATTCTCATTACCACTG -3'

Sequencing Primer
(F):5'- CAGCCATTGTCTTAATAGCCAGG -3'
(R):5'- GTGTATTCTCATTACCACTGTATCC -3'
Posted On 2022-11-14