Incidental Mutation 'R3784:Klra8'
ID272168
Institutional Source Beutler Lab
Gene Symbol Klra8
Ensembl Gene ENSMUSG00000089727
Gene Namekiller cell lectin-like receptor, subfamily A, member 8
SynonymsLy49u<129>, Cmv1, Cmv-1, Ly49h
MMRRC Submission 040876-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.015) question?
Stock #R3784 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location130115226-130129898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 130125055 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 139 (D139V)
Ref Sequence ENSEMBL: ENSMUSP00000014476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014476]
PDB Structure
Crystal structure of the activating Ly49H receptor in complex with m157 (G1F strain) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000014476
AA Change: D139V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000014476
Gene: ENSMUSG00000089727
AA Change: D139V

DomainStartEndE-ValueType
Blast:CLECT 73 124 9e-8 BLAST
CLECT 143 258 6.53e-15 SMART
Meta Mutation Damage Score 0.1084 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (44/44)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,794,154 C172* probably null Het
3110082I17Rik G T 5: 139,455,442 P35Q probably damaging Het
Adam11 T C 11: 102,774,367 probably null Het
Ank2 A G 3: 126,953,193 L581P probably damaging Het
Armc2 T C 10: 41,922,194 I779V probably benign Het
Atp8a2 A T 14: 59,773,966 Y965N probably damaging Het
C3 A G 17: 57,226,067 V146A probably damaging Het
Cfap206 A T 4: 34,716,445 I340N probably damaging Het
Col3a1 A G 1: 45,347,135 D145G probably damaging Het
Drosha A G 15: 12,890,529 D954G possibly damaging Het
Fam161b A T 12: 84,361,690 probably null Het
Fat2 C T 11: 55,256,186 A3995T probably benign Het
Foxg1 A G 12: 49,385,599 T372A probably benign Het
Heatr1 G T 13: 12,434,460 L1946F probably damaging Het
Hook1 T C 4: 95,989,651 F55L probably damaging Het
Iars2 T C 1: 185,287,131 K986R probably benign Het
Inpp5k T C 11: 75,647,686 L461P probably damaging Het
Mical3 T C 6: 121,021,337 Y20C probably benign Het
Myo15 A T 11: 60,477,572 Y386F probably damaging Het
Ncoa6 G A 2: 155,407,757 T1209I probably damaging Het
Nsa2 G T 13: 97,135,534 Q60K possibly damaging Het
Olfml2b A G 1: 170,681,982 D633G probably damaging Het
Plekhg3 T C 12: 76,560,520 probably null Het
Plxna2 T A 1: 194,644,617 D286E probably benign Het
Pmepa1 G A 2: 173,228,133 R210W probably damaging Het
Prmt7 C A 8: 106,242,136 Q361K probably benign Het
Prrc2c T C 1: 162,709,669 probably benign Het
Psg27 T A 7: 18,560,354 Q376L probably damaging Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Rad51b C T 12: 79,300,645 Q28* probably null Het
Rala T A 13: 17,882,446 E185V probably benign Het
Sall4 A G 2: 168,756,123 S266P probably damaging Het
Senp6 T G 9: 80,092,286 I74S probably benign Het
Spats2l A G 1: 57,885,779 E112G probably damaging Het
Synrg T C 11: 84,001,920 F613S probably damaging Het
Taf15 G A 11: 83,506,422 D313N unknown Het
Tekt1 A G 11: 72,344,894 I376T probably damaging Het
Thbs4 T C 13: 92,773,164 N375S probably benign Het
Tubb6 A G 18: 67,392,993 T72A possibly damaging Het
Txndc16 A T 14: 45,165,886 V32E probably damaging Het
Vmn1r200 A T 13: 22,395,855 Y276F possibly damaging Het
Other mutations in Klra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Klra8 APN 6 130115598 missense probably benign
IGL01786:Klra8 APN 6 130119068 critical splice acceptor site probably null
IGL02145:Klra8 APN 6 130125236 missense probably benign 0.01
IGL02531:Klra8 APN 6 130118970 missense possibly damaging 0.67
P4748:Klra8 UTSW 6 130122044 missense possibly damaging 0.51
R0082:Klra8 UTSW 6 130125055 missense probably benign 0.00
R0853:Klra8 UTSW 6 130119014 missense probably damaging 1.00
R1517:Klra8 UTSW 6 130115640 missense probably benign 0.02
R1610:Klra8 UTSW 6 130119018 missense probably damaging 1.00
R1669:Klra8 UTSW 6 130115629 nonsense probably null
R2015:Klra8 UTSW 6 130115573 missense probably damaging 1.00
R6909:Klra8 UTSW 6 130125160 missense probably benign 0.03
X0013:Klra8 UTSW 6 130125119 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTGCCAAAGAGAACTTTCCTTC -3'
(R):5'- TGTTGGCTCTCCACGTGAAG -3'

Sequencing Primer
(F):5'- CATCTGAAGCTGCTGGAT -3'
(R):5'- ACGTGAAGCCTATTCTCTAACC -3'
Posted On2015-03-25