Incidental Mutation 'R0971:Cbr2'
| ID |
81510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbr2
|
| Ensembl Gene |
ENSMUSG00000025150 |
| Gene Name |
carbonyl reductase 2 |
| Synonyms |
MLCR, lung carbonyl reductase |
| MMRRC Submission |
039100-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0971 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120620311-120622851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120621259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 147
(I147F)
|
| 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: I147F
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000026148
Gene: ENSMUSG00000025150
AA Change: I147F
| 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: I74F
|
| SMART Domains |
Protein: ENSMUSP00000117739
Gene: ENSMUSG00000025150
AA Change: I74F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
G |
A |
7: 80,742,327 (GRCm39) |
E715K |
possibly damaging |
Het |
| Chdh |
A |
G |
14: 29,755,620 (GRCm39) |
N302S |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,969,677 (GRCm39) |
H732Q |
probably benign |
Het |
| Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
| Itln1 |
C |
A |
1: 171,356,772 (GRCm39) |
V236F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,326,590 (GRCm39) |
E104G |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,032,927 (GRCm39) |
F71L |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,447,392 (GRCm39) |
M1399T |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,824,784 (GRCm39) |
V1324A |
possibly damaging |
Het |
| Klhdc7b |
A |
T |
15: 89,271,257 (GRCm39) |
H713L |
possibly damaging |
Het |
| Opn5 |
C |
T |
17: 42,922,218 (GRCm39) |
|
probably null |
Het |
| Poteg |
A |
T |
8: 27,937,967 (GRCm39) |
Y41F |
probably damaging |
Het |
| Prb1b |
T |
A |
6: 132,290,618 (GRCm39) |
D27V |
unknown |
Het |
| Psd2 |
C |
A |
18: 36,112,839 (GRCm39) |
T178K |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,687,657 (GRCm39) |
T374A |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,041,246 (GRCm39) |
|
probably null |
Het |
| Tmem120a |
A |
G |
5: 135,764,958 (GRCm39) |
L272P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,272 (GRCm39) |
I30F |
probably benign |
Het |
| Vps33b |
A |
G |
7: 79,937,647 (GRCm39) |
D465G |
possibly damaging |
Het |
| Zan |
G |
A |
5: 137,432,325 (GRCm39) |
A2324V |
unknown |
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 |
|
|
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 |
|
R3828:Cbr2
|
UTSW |
11 |
120,621,278 (GRCm39) |
missense |
probably benign |
|
|
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'- GCTTTGGTCAGCATAGTCATCGCTC -3'
(R):5'- AATGCAGCCCTTCCTGGAAGTTAC -3'
Sequencing Primer
(F):5'- AGCATAGTCATCGCTCCCTTG -3'
(R):5'- GTTACCAAGGAAGCCTTTGAC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation