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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |