Incidental Mutation 'P4748:Klra8'
ID 26539
Institutional Source Beutler Lab
Gene Symbol Klra8
Ensembl Gene ENSMUSG00000089727
Gene Name killer cell lectin-like receptor, subfamily A, member 8
Synonyms Ly49u<129>, Ly49h, Cmv1, Cmv-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # P4748 () of strain 712
Quality Score 222
Status Not validated
Chromosome 6
Chromosomal Location 130092189-130106861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130099007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 185 (D185E)
Ref Sequence ENSEMBL: ENSMUSP00000014476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014476]
AlphaFold Q60682
PDB Structure Crystal structure of the activating Ly49H receptor in complex with m157 (G1F strain) [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000014476
AA Change: D185E

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000014476
Gene: ENSMUSG00000089727
AA Change: D185E

Blast:CLECT 73 124 9e-8 BLAST
CLECT 143 258 6.53e-15 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.5%
  • 20x: 94.5%
Validation Efficiency 87% (26/30)
MGI Phenotype PHENOTYPE: Most mouse strains other than C57BL/6 and C57BL/10 lack this gene and this correlates with an increased susceptiblity to CMV infection. A congenic strain in which the CMV resistant allele from C57BL/6 mice has been introduced in the BALB/c background shows high susceptibility to malarial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
4930556J24Rik A T 11: 3,888,178 (GRCm39) probably null Het
Acoxl T C 2: 127,928,264 (GRCm39) probably benign Het
Ahi1 G C 10: 20,848,009 (GRCm39) R472S probably damaging Het
Akap10 A G 11: 61,763,846 (GRCm39) L662P possibly damaging Het
Arhgef10 C T 8: 14,978,925 (GRCm39) T64M possibly damaging Het
Ccr4 C T 9: 114,321,906 (GRCm39) G53D probably damaging Het
Cdc25a T C 9: 109,713,176 (GRCm39) probably benign Het
Clec4n A C 6: 123,221,499 (GRCm39) Q114H probably damaging Het
Cmya5 A G 13: 93,210,983 (GRCm39) probably benign Het
Depdc1a T C 3: 159,228,184 (GRCm39) V312A probably damaging Het
Ephb6 C T 6: 41,594,219 (GRCm39) P583L probably damaging Het
Meis2 T A 2: 115,694,961 (GRCm39) Q394L probably benign Het
Or2t47 G A 11: 58,442,348 (GRCm39) T239I probably damaging Het
Pzp C T 6: 128,467,052 (GRCm39) G1107D probably damaging Het
Ralgapa2 C T 2: 146,188,731 (GRCm39) W1350* probably null Het
Scand1 C A 2: 156,153,865 (GRCm39) R135L probably damaging Het
Spopl A T 2: 23,401,455 (GRCm39) M351K probably benign Het
Tmed4 T C 11: 6,223,727 (GRCm39) probably benign Het
Ube2e2 A G 14: 18,630,297 (GRCm38) probably null Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Usp51 GATGCAT GAT X: 151,791,227 (GRCm39) probably null Het
Wrap53 A T 11: 69,453,031 (GRCm39) D425E probably damaging Het
Other mutations in Klra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Klra8 APN 6 130,092,561 (GRCm39) missense probably benign
IGL01786:Klra8 APN 6 130,096,031 (GRCm39) critical splice acceptor site probably null
IGL02145:Klra8 APN 6 130,102,199 (GRCm39) missense probably benign 0.01
IGL02531:Klra8 APN 6 130,095,933 (GRCm39) missense possibly damaging 0.67
R0082:Klra8 UTSW 6 130,102,018 (GRCm39) missense probably benign 0.00
R0853:Klra8 UTSW 6 130,095,977 (GRCm39) missense probably damaging 1.00
R1517:Klra8 UTSW 6 130,092,603 (GRCm39) missense probably benign 0.02
R1610:Klra8 UTSW 6 130,095,981 (GRCm39) missense probably damaging 1.00
R1669:Klra8 UTSW 6 130,092,592 (GRCm39) nonsense probably null
R2015:Klra8 UTSW 6 130,092,536 (GRCm39) missense probably damaging 1.00
R3784:Klra8 UTSW 6 130,102,018 (GRCm39) missense probably benign 0.02
R6909:Klra8 UTSW 6 130,102,123 (GRCm39) missense probably benign 0.03
R7009:Klra8 UTSW 6 130,102,147 (GRCm39) missense probably benign 0.02
R8443:Klra8 UTSW 6 130,105,056 (GRCm39) missense probably damaging 0.98
R9055:Klra8 UTSW 6 130,096,017 (GRCm39) missense probably benign 0.00
X0013:Klra8 UTSW 6 130,102,082 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- gcatcattttctctattgattcatcc -3'
Posted On 2013-04-16