Incidental Mutation 'R1488:Bdh2'
ID 165484
Institutional Source Beutler Lab
Gene Symbol Bdh2
Ensembl Gene ENSMUSG00000028167
Gene Name 3-hydroxybutyrate dehydrogenase, type 2
Synonyms Dhrs6, 1810026B04Rik
MMRRC Submission 039540-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1488 (G1)
Quality Score 210
Status Validated
Chromosome 3
Chromosomal Location 134986982-135010187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135002602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 157 (Y157C)
Ref Sequence ENSEMBL: ENSMUSP00000112683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029817] [ENSMUST00000120397]
AlphaFold Q8JZV9
Predicted Effect probably damaging
Transcript: ENSMUST00000029817
AA Change: Y147C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029817
Gene: ENSMUSG00000028167
AA Change: Y147C

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 damaging
Transcript: ENSMUST00000120397
AA Change: Y157C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112683
Gene: ENSMUSG00000028167
AA Change: Y157C

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 probably damaging
Transcript: ENSMUST00000171974
AA Change: Y157C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131111
Gene: ENSMUSG00000028167
AA Change: Y157C

DomainStartEndE-ValueType
Pfam:KR 17 178 2.9e-8 PFAM
Pfam:adh_short 17 203 1.2e-51 PFAM
Pfam:adh_short_C2 22 254 1.6e-29 PFAM
Meta Mutation Damage Score 0.9734 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.3%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A G 6: 48,910,381 (GRCm39) N691S possibly damaging Het
Arhgap23 A G 11: 97,391,685 (GRCm39) S1401G possibly damaging Het
Art2b A C 7: 101,229,414 (GRCm39) F162V probably damaging Het
Atg4c T A 4: 99,109,479 (GRCm39) W149R probably damaging Het
Atxn1l A G 8: 110,460,049 (GRCm39) I71T probably benign Het
Axdnd1 T A 1: 156,176,530 (GRCm39) L748F probably damaging Het
C2cd4a G T 9: 67,738,990 (GRCm39) R18S probably benign Het
Catsperb A G 12: 101,560,526 (GRCm39) H839R probably damaging Het
Ccdc24 C A 4: 117,727,765 (GRCm39) S134I possibly damaging Het
Cd55 G T 1: 130,376,115 (GRCm39) T70K probably damaging Het
Cdh10 A T 15: 19,013,349 (GRCm39) I650F probably damaging Het
Clca3a2 T A 3: 144,789,925 (GRCm39) K470N possibly damaging Het
Csn2 G A 5: 87,842,755 (GRCm39) Q91* probably null Het
Ctsh G A 9: 89,953,944 (GRCm39) D218N possibly damaging Het
Cyb5r4 C G 9: 86,911,591 (GRCm39) Y88* probably null Het
Dgkq A G 5: 108,798,743 (GRCm39) F601S probably damaging Het
Eci2 A G 13: 35,161,916 (GRCm39) V352A probably benign Het
Krt28 T C 11: 99,255,997 (GRCm39) T421A probably benign Het
Lamp5 T C 2: 135,911,011 (GRCm39) V248A probably benign Het
Lin9 T A 1: 180,515,850 (GRCm39) L483Q possibly damaging Het
Lrp1b C A 2: 41,392,036 (GRCm39) M509I probably benign Het
Lrrfip1 T C 1: 91,042,354 (GRCm39) V253A probably damaging Het
Mpdz C A 4: 81,266,945 (GRCm39) E981* probably null Het
Mpo A C 11: 87,688,256 (GRCm39) N305T probably damaging Het
Or2y1 A G 11: 49,385,945 (GRCm39) E195G probably benign Het
Or51a24 T C 7: 103,733,859 (GRCm39) I143V probably benign Het
Or5p79 A T 7: 108,221,696 (GRCm39) I226F probably damaging Het
Papss2 T C 19: 32,614,490 (GRCm39) S69P probably benign Het
Pcdhb22 A G 18: 37,652,941 (GRCm39) T470A possibly damaging Het
Plce1 A G 19: 38,705,247 (GRCm39) D884G possibly damaging Het
Prex2 T A 1: 11,263,752 (GRCm39) I1239K probably benign Het
Prkd2 T A 7: 16,592,364 (GRCm39) F625I probably damaging Het
Rab20 A T 8: 11,504,268 (GRCm39) V144E probably benign Het
Rnf213 A G 11: 119,371,715 (GRCm39) N4840S probably benign Het
Scaf8 T G 17: 3,247,872 (GRCm39) M1065R probably damaging Het
Slco3a1 A G 7: 73,996,449 (GRCm39) L319P possibly damaging Het
Slit1 A G 19: 41,596,824 (GRCm39) C1092R probably damaging Het
Tlr4 A G 4: 66,757,786 (GRCm39) D193G probably damaging Het
Tmem145 T A 7: 25,006,860 (GRCm39) probably null Het
Tmem184a T A 5: 139,793,395 (GRCm39) K235N probably benign Het
Tnpo1 A T 13: 98,993,415 (GRCm39) D590E probably damaging Het
Trio C A 15: 27,741,053 (GRCm39) G2724V probably damaging Het
Ttc6 A T 12: 57,696,301 (GRCm39) Y34F possibly damaging Het
Tuba4a T C 1: 75,193,045 (GRCm39) T190A probably benign Het
Tubgcp4 T G 2: 121,007,031 (GRCm39) V136G possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r74 T C 7: 11,581,510 (GRCm39) I270T probably benign Het
Vmn2r103 A T 17: 20,013,922 (GRCm39) E238V probably damaging Het
Vmn2r60 T A 7: 41,786,137 (GRCm39) F313L probably benign Het
Zfp710 T C 7: 79,731,752 (GRCm39) Y310H probably 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
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
R5550:Bdh2 UTSW 3 134,994,074 (GRCm39) missense probably benign 0.02
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'- AGTCCAAATTAGGTTCCGCGACAC -3'
(R):5'- CGATGTCTGTCAGTGGTGGAAAGC -3'

Sequencing Primer
(F):5'- CTCTATCCCTATTATAGGAGGAGACC -3'
(R):5'- CTGTCAGTGGTGGAAAGCAATATG -3'
Posted On 2014-03-28