Incidental Mutation 'R5550:Bdh2'
ID 435081
Institutional Source Beutler Lab
Gene Symbol Bdh2
Ensembl Gene ENSMUSG00000028167
Gene Name 3-hydroxybutyrate dehydrogenase, type 2
Synonyms Dhrs6, 1810026B04Rik
MMRRC Submission 043107-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5550 (G1)
Quality Score 191
Status Not validated
Chromosome 3
Chromosomal Location 134986982-135010187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134994074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 52 (K52R)
Ref Sequence ENSEMBL: ENSMUSP00000112683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029817] [ENSMUST00000120397]
AlphaFold Q8JZV9
Predicted Effect probably benign
Transcript: ENSMUST00000029817
AA Change: K42R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000029817
Gene: ENSMUSG00000028167
AA Change: K42R

DomainStartEndE-ValueType
Pfam:adh_short 7 166 2.2e-26 PFAM
Pfam:KR 7 169 5.1e-7 PFAM
Pfam:adh_short_C2 12 244 6.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120397
AA Change: K52R

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000112683
Gene: ENSMUSG00000028167
AA Change: K52R

DomainStartEndE-ValueType
Pfam:adh_short 7 166 2.2e-26 PFAM
Pfam:KR 7 169 5.1e-7 PFAM
Pfam:adh_short_C2 12 244 6.6e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198491
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,900,129 (GRCm39) I1295M probably benign Het
Adgrb2 G T 4: 129,908,727 (GRCm39) probably null Het
Adig A T 2: 158,349,880 (GRCm39) probably benign Het
Atp5po C A 16: 91,727,292 (GRCm39) V15F probably damaging Het
Bud23 A G 5: 135,092,744 (GRCm39) V27A probably benign Het
Ces2b A G 8: 105,565,069 (GRCm39) D551G probably benign Het
Csmd3 G C 15: 48,048,753 (GRCm39) S446C probably damaging Het
Dio3 A T 12: 110,246,560 (GRCm39) T299S probably benign Het
Dnah1 T A 14: 31,038,665 (GRCm39) I139F probably benign Het
Dpy30 A G 17: 74,622,920 (GRCm39) Y21H probably benign Het
Gbp4 C T 5: 105,269,911 (GRCm39) V306M probably damaging Het
Gcat G A 15: 78,926,411 (GRCm39) V94M probably benign Het
H2bc27 A G 11: 58,840,146 (GRCm39) *127W probably null Het
Henmt1 A G 3: 108,861,184 (GRCm39) Y69C probably damaging Het
Kank4 A G 4: 98,659,678 (GRCm39) F800S probably benign Het
Lrrc37a T A 11: 103,389,003 (GRCm39) T2141S unknown Het
Map3k4 G A 17: 12,462,445 (GRCm39) R1143* probably null Het
Mdc1 A G 17: 36,156,776 (GRCm39) D61G possibly damaging Het
Nfkbid T A 7: 30,125,426 (GRCm39) L303Q probably damaging Het
Or2ag15 T C 7: 106,340,340 (GRCm39) N267S probably benign Het
Or6c75 A G 10: 129,337,652 (GRCm39) N300D probably damaging Het
P2ry1 T C 3: 60,911,232 (GRCm39) C124R probably damaging Het
Sntg1 C T 1: 8,695,008 (GRCm39) C153Y probably damaging Het
Speg A T 1: 75,405,744 (GRCm39) T2983S probably damaging Het
Tbc1d2 G A 4: 46,646,138 (GRCm39) P163S probably benign Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnks2 T A 19: 36,839,746 (GRCm39) V78E probably damaging Het
Trip12 A G 1: 84,738,820 (GRCm39) C709R probably damaging Het
Xpo5 T A 17: 46,545,418 (GRCm39) V828D possibly damaging Het
Other mutations in Bdh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Bdh2 APN 3 134,994,080 (GRCm39) missense probably benign 0.13
R0684:Bdh2 UTSW 3 134,996,774 (GRCm39) missense probably benign 0.01
R1398:Bdh2 UTSW 3 135,001,057 (GRCm39) critical splice donor site probably benign
R1488:Bdh2 UTSW 3 135,002,602 (GRCm39) missense probably damaging 1.00
R1688:Bdh2 UTSW 3 135,007,399 (GRCm39) missense possibly damaging 0.77
R1968:Bdh2 UTSW 3 134,991,370 (GRCm39) missense probably benign 0.12
R1969:Bdh2 UTSW 3 134,994,040 (GRCm39) missense probably damaging 1.00
R2192:Bdh2 UTSW 3 135,001,025 (GRCm39) missense probably damaging 1.00
R6749:Bdh2 UTSW 3 135,006,452 (GRCm39) missense probably damaging 1.00
R8345:Bdh2 UTSW 3 135,001,013 (GRCm39) missense probably damaging 1.00
R8765:Bdh2 UTSW 3 134,996,841 (GRCm39) missense probably benign 0.08
R8995:Bdh2 UTSW 3 135,000,989 (GRCm39) missense probably damaging 1.00
R9007:Bdh2 UTSW 3 134,991,309 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- ATAATCCCTGTTCCTCCAATGACTG -3'
(R):5'- GACTGTACACACTGTTTCCCG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- CCGTAGGCCCTAGAATACAGATTTG -3'
Posted On 2016-10-24