Incidental Mutation 'IGL02531:Klra8'
ID 297300
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02531
Quality Score
Chromosome 6
Chromosomal Location 130092189-130106861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130095933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 220 (S220P)
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: S220P

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000014476
Gene: ENSMUSG00000089727
AA Change: S220P

Blast:CLECT 73 124 9e-8 BLAST
CLECT 143 258 6.53e-15 SMART
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,933,429 (GRCm39) H467N unknown Het
Alb A G 5: 90,615,307 (GRCm39) D273G probably damaging Het
Arap3 A G 18: 38,122,804 (GRCm39) S531P probably damaging Het
Bmpr2 T A 1: 59,884,873 (GRCm39) probably null Het
Cfhr4 T C 1: 139,702,307 (GRCm39) K59R probably benign Het
Chd7 G A 4: 8,854,134 (GRCm39) R1902H probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b13 A T 7: 25,761,030 (GRCm39) H29L possibly damaging Het
Enpp5 G T 17: 44,391,843 (GRCm39) V91F probably damaging Het
Fam210b T C 2: 172,194,675 (GRCm39) Y176H probably damaging Het
Fam83b T C 9: 76,399,282 (GRCm39) E607G possibly damaging Het
Hhla1 C T 15: 65,839,256 (GRCm39) probably benign Het
Kdm3b A G 18: 34,928,782 (GRCm39) T178A probably benign Het
Klf1 T A 8: 85,631,437 (GRCm39) F334I probably damaging Het
Medag A G 5: 149,345,616 (GRCm39) N99S probably benign Het
Muc6 T C 7: 141,216,853 (GRCm39) T2607A possibly damaging Het
Mug2 T G 6: 122,049,730 (GRCm39) L921R probably damaging Het
Nacad T C 11: 6,548,580 (GRCm39) N1385D possibly damaging Het
Nin A G 12: 70,067,706 (GRCm39) F1983L probably benign Het
Nipal4 T C 11: 46,042,152 (GRCm39) I176M probably damaging Het
Orc6 T C 8: 86,029,998 (GRCm39) S47P probably damaging Het
Ovch2 C T 7: 107,389,405 (GRCm39) C341Y probably damaging Het
Polq T A 16: 36,882,736 (GRCm39) H1633Q possibly damaging Het
Rab23 T C 1: 33,777,361 (GRCm39) probably benign Het
Rai14 A G 15: 10,574,868 (GRCm39) S697P probably damaging Het
Rnf213 T C 11: 119,327,628 (GRCm39) F1872L probably benign Het
Sdhc T C 1: 170,963,587 (GRCm39) H127R probably damaging Het
Snx9 T C 17: 5,942,095 (GRCm39) V74A probably benign Het
Spata31d1d A G 13: 59,875,748 (GRCm39) S596P possibly damaging Het
Syt14 T C 1: 192,584,242 (GRCm39) *78W probably null Het
Thoc1 A G 18: 9,970,258 (GRCm39) T203A probably benign Het
Trmt13 A G 3: 116,385,840 (GRCm39) probably null Het
Ttc28 A G 5: 111,373,716 (GRCm39) I1020V probably damaging Het
Vmn2r16 A G 5: 109,488,134 (GRCm39) T336A 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
P4748:Klra8 UTSW 6 130,099,007 (GRCm39) missense possibly damaging 0.51
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
Posted On 2015-04-16