Incidental Mutation 'R3500:Ldhb'
ID 273763
Institutional Source Beutler Lab
Gene Symbol Ldhb
Ensembl Gene ENSMUSG00000030246
Gene Name lactate dehydrogenase B
Synonyms lactate dehydrogenase-B, Ldh-2, H-Ldh
MMRRC Submission 040663-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3500 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 142435975-142453683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142447173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 47 (D47G)
Ref Sequence ENSEMBL: ENSMUSP00000116014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032373] [ENSMUST00000134191]
AlphaFold P16125
Predicted Effect probably damaging
Transcript: ENSMUST00000032373
AA Change: D47G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: D47G

DomainStartEndE-ValueType
Pfam:Ldh_1_N 22 161 4.2e-51 PFAM
Pfam:Ldh_1_C 164 334 9.6e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134191
AA Change: D47G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116014
Gene: ENSMUSG00000030246
AA Change: D47G

DomainStartEndE-ValueType
Pfam:Ldh_1_N 22 161 6.3e-54 PFAM
Pfam:Glyco_hydro_4 79 178 2.1e-8 PFAM
Pfam:Ldh_1_C 164 198 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204433
Meta Mutation Damage Score 0.5943 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have also been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes 1 and 19. [provided by RefSeq, Feb 2016]
PHENOTYPE: Electrophoretic variants of LDHB are determined by: the a allele with fast anodal mobility in all inbred strains tested; and the b allele with slower mobility in Peru-Coppock stock. Three additional variants are known in wild M. spretus from southern France and Spain. Alleles are codominant. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amhr2 A G 15: 102,355,501 (GRCm39) D188G probably benign Het
Arl15 G A 13: 114,104,228 (GRCm39) E102K probably damaging Het
Atp10d C T 5: 72,403,066 (GRCm39) R319C probably damaging Het
Cetn4 A T 3: 37,364,109 (GRCm39) F34I probably benign Het
Chd8 G T 14: 52,443,110 (GRCm39) H510N probably benign Het
Chil5 T C 3: 105,925,536 (GRCm39) D157G probably damaging Het
Clcn1 T C 6: 42,269,929 (GRCm39) S251P probably damaging Het
Clstn3 A T 6: 124,408,670 (GRCm39) C881S probably benign Het
Cnot4 G A 6: 35,057,076 (GRCm39) probably benign Het
Copg1 G A 6: 87,872,905 (GRCm39) probably benign Het
Czib C T 4: 107,748,710 (GRCm39) R83W probably damaging Het
Eftud2 A G 11: 102,735,006 (GRCm39) M631T probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Fancb A G X: 163,779,104 (GRCm39) T721A probably damaging Het
Fat2 A G 11: 55,151,342 (GRCm39) F3800S probably damaging Het
Fgd2 T C 17: 29,584,575 (GRCm39) V173A possibly damaging Het
Gabrr1 T C 4: 33,158,184 (GRCm39) probably benign Het
Gata4 C T 14: 63,437,982 (GRCm39) G390S possibly damaging Het
Gm9396 C A 3: 129,862,144 (GRCm39) noncoding transcript Het
Grid2 T C 6: 63,480,383 (GRCm39) S66P probably damaging Het
Hdac9 C A 12: 34,487,352 (GRCm39) M16I probably benign Het
Kmt2c A T 5: 25,504,477 (GRCm39) D3610E probably benign Het
Lactb2 A T 1: 13,730,673 (GRCm39) M1K probably null Het
Map3k11 A T 19: 5,740,275 (GRCm39) M1L probably benign Het
Mecom C T 3: 30,035,061 (GRCm39) R205H probably damaging Het
Mob1b A G 5: 88,897,479 (GRCm39) D129G probably benign Het
Nbea A G 3: 55,588,431 (GRCm39) V2436A possibly damaging Het
Neb T C 2: 52,215,797 (GRCm39) N170S probably damaging Het
Nedd4l G A 18: 65,345,931 (GRCm39) A848T probably damaging Het
Nr5a1 G A 2: 38,597,952 (GRCm39) R282* probably null Het
Or4c102 A G 2: 88,422,285 (GRCm39) T46A probably damaging Het
Or4c119 C T 2: 88,987,403 (GRCm39) G39R probably damaging Het
Or4d10c A G 19: 12,065,421 (GRCm39) V245A possibly damaging Het
Or4f47 T C 2: 111,972,472 (GRCm39) F61L possibly damaging Het
Or52e2 T C 7: 102,804,297 (GRCm39) Y219C probably damaging Het
Pcdhb19 T A 18: 37,630,532 (GRCm39) L109* probably null Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Podxl2 T C 6: 88,819,900 (GRCm39) D554G probably damaging Het
Ppp3ca A G 3: 136,587,273 (GRCm39) T252A probably benign Het
Pramel6 A G 2: 87,339,569 (GRCm39) H111R probably damaging Het
Prr19 A G 7: 25,002,692 (GRCm39) E130G probably damaging Het
Rab44 C T 17: 29,357,041 (GRCm39) A57V probably benign Het
Rhbdl3 T C 11: 80,210,531 (GRCm39) F95L probably damaging Het
Sdk1 G T 5: 141,992,371 (GRCm39) probably benign Het
Tas2r122 T A 6: 132,688,523 (GRCm39) K123N probably damaging Het
Tbpl2 C T 2: 23,977,151 (GRCm39) R289Q probably benign Het
Trpm2 A G 10: 77,768,136 (GRCm39) F788L probably benign Het
Ttn G A 2: 76,560,628 (GRCm39) L29258F probably damaging Het
Ttn G T 2: 76,591,509 (GRCm39) F19307L possibly damaging Het
Vmn2r23 T C 6: 123,690,129 (GRCm39) I335T possibly damaging Het
Other mutations in Ldhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:Ldhb APN 6 142,438,226 (GRCm39) missense probably benign 0.16
IGL02215:Ldhb APN 6 142,441,292 (GRCm39) critical splice donor site probably null
IGL03094:Ldhb APN 6 142,451,253 (GRCm39) missense probably benign 0.00
IGL03337:Ldhb APN 6 142,439,882 (GRCm39) missense probably benign
R0347:Ldhb UTSW 6 142,439,859 (GRCm39) missense probably benign 0.00
R0703:Ldhb UTSW 6 142,441,327 (GRCm39) missense probably damaging 1.00
R1531:Ldhb UTSW 6 142,447,121 (GRCm39) missense probably benign 0.09
R1577:Ldhb UTSW 6 142,438,324 (GRCm39) missense possibly damaging 0.87
R1844:Ldhb UTSW 6 142,439,934 (GRCm39) missense probably damaging 1.00
R2151:Ldhb UTSW 6 142,444,396 (GRCm39) missense possibly damaging 0.76
R4502:Ldhb UTSW 6 142,436,183 (GRCm39) missense possibly damaging 0.60
R5139:Ldhb UTSW 6 142,439,921 (GRCm39) missense probably damaging 1.00
R5214:Ldhb UTSW 6 142,441,321 (GRCm39) missense probably damaging 1.00
R6499:Ldhb UTSW 6 142,439,847 (GRCm39) missense possibly damaging 0.92
R6525:Ldhb UTSW 6 142,436,191 (GRCm39) missense probably benign
R6598:Ldhb UTSW 6 142,436,326 (GRCm39) missense possibly damaging 0.56
R7096:Ldhb UTSW 6 142,447,099 (GRCm39) missense probably benign 0.09
R7399:Ldhb UTSW 6 142,441,399 (GRCm39) missense probably damaging 0.99
R7565:Ldhb UTSW 6 142,438,245 (GRCm39) missense possibly damaging 0.67
R8447:Ldhb UTSW 6 142,444,356 (GRCm39) missense probably damaging 0.99
R9120:Ldhb UTSW 6 142,439,935 (GRCm39) missense probably damaging 1.00
R9628:Ldhb UTSW 6 142,439,862 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCATCCCAAGTATCCATTCATACG -3'
(R):5'- GGGGCTTAATTTTCCCGTACAG -3'

Sequencing Primer
(F):5'- ATACGAAAACCCCTTTCATGTTCG -3'
(R):5'- AGCCAGCTGTTCTGTAAAGC -3'
Posted On 2015-04-02