Incidental Mutation 'R3828:Cbr2'
ID |
273860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cbr2
|
Ensembl Gene |
ENSMUSG00000025150 |
Gene Name |
carbonyl reductase 2 |
Synonyms |
MLCR, lung carbonyl reductase |
MMRRC Submission |
040886-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3828 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
120620311-120622851 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120621278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 140
(H140Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026144]
[ENSMUST00000026148]
[ENSMUST00000106148]
|
AlphaFold |
P08074 |
PDB Structure |
CARBONYL REDUCTASE COMPLEXED WITH NADPH AND 2-PROPANOL [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026144
|
SMART Domains |
Protein: ENSMUSP00000026144 Gene: ENSMUSG00000039450
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
8 |
195 |
8.9e-51 |
PFAM |
Pfam:KR
|
9 |
175 |
7.1e-9 |
PFAM |
Pfam:Epimerase
|
10 |
227 |
2.3e-7 |
PFAM |
Pfam:adh_short_C2
|
14 |
242 |
6.3e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026148
AA Change: H140Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026148 Gene: ENSMUSG00000025150 AA Change: H140Q
Domain | Start | End | E-Value | Type |
Pfam:KR
|
9 |
178 |
8.5e-8 |
PFAM |
Pfam:adh_short
|
9 |
195 |
4.6e-55 |
PFAM |
Pfam:adh_short_C2
|
14 |
242 |
9.4e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106148
|
SMART Domains |
Protein: ENSMUSP00000101754 Gene: ENSMUSG00000039450
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
8 |
151 |
2.1e-22 |
PFAM |
Pfam:KR
|
9 |
151 |
4.7e-7 |
PFAM |
Pfam:NAD_binding_10
|
11 |
182 |
3.9e-9 |
PFAM |
Pfam:adh_short_C2
|
14 |
150 |
2.2e-8 |
PFAM |
Pfam:adh_short_C2
|
157 |
234 |
4e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149450
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154479
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154565
AA Change: H67Q
|
SMART Domains |
Protein: ENSMUSP00000117739 Gene: ENSMUSG00000025150 AA Change: H67Q
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
1 |
45 |
6.2e-10 |
PFAM |
Pfam:adh_short_C2
|
33 |
154 |
9.7e-18 |
PFAM |
Pfam:adh_short
|
41 |
123 |
2.2e-23 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
Het |
|
Other mutations in Cbr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0211:Cbr2
|
UTSW |
11 |
120,621,614 (GRCm39) |
missense |
probably benign |
|
R0211:Cbr2
|
UTSW |
11 |
120,621,614 (GRCm39) |
missense |
probably benign |
|
R0971:Cbr2
|
UTSW |
11 |
120,621,259 (GRCm39) |
missense |
probably benign |
0.16 |
R1573:Cbr2
|
UTSW |
11 |
120,622,791 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2093:Cbr2
|
UTSW |
11 |
120,621,255 (GRCm39) |
missense |
probably benign |
0.00 |
R3829:Cbr2
|
UTSW |
11 |
120,621,278 (GRCm39) |
missense |
probably benign |
|
R4403:Cbr2
|
UTSW |
11 |
120,621,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R5011:Cbr2
|
UTSW |
11 |
120,621,697 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7199:Cbr2
|
UTSW |
11 |
120,621,087 (GRCm39) |
missense |
probably benign |
0.00 |
R7535:Cbr2
|
UTSW |
11 |
120,620,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R7714:Cbr2
|
UTSW |
11 |
120,620,628 (GRCm39) |
missense |
probably benign |
0.02 |
R7962:Cbr2
|
UTSW |
11 |
120,620,609 (GRCm39) |
missense |
probably benign |
0.03 |
R8158:Cbr2
|
UTSW |
11 |
120,621,123 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Cbr2
|
UTSW |
11 |
120,621,105 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTGGCCCTAGTTCCATG -3'
(R):5'- AGGTCCTTCAGTGTAAATCTTCGC -3'
Sequencing Primer
(F):5'- GCCCTAGTTCCATGGCCATG -3'
(R):5'- CAGTGTAAATCTTCGCTCTGTG -3'
|
Posted On |
2015-04-02 |