Incidental Mutation 'R4403:Cbr2'
| ID |
326734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbr2
|
| Ensembl Gene |
ENSMUSG00000025150 |
| Gene Name |
carbonyl reductase 2 |
| Synonyms |
MLCR, lung carbonyl reductase |
| MMRRC Submission |
041687-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4403 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120620311-120622851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120621628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 83
(N83I)
|
| 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 damaging
Transcript: ENSMUST00000026148
AA Change: N83I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026148
Gene: ENSMUSG00000025150
AA Change: N83I
| 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 |
probably benign
Transcript: ENSMUST00000154565
|
| SMART Domains |
Protein: ENSMUSP00000117739
Gene: ENSMUSG00000025150
| 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 |
0.8218 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,595 (GRCm39) |
Y2037C |
probably damaging |
Het |
| Adam33 |
T |
C |
2: 130,895,190 (GRCm39) |
T647A |
probably benign |
Het |
| Adamts9 |
C |
T |
6: 92,836,845 (GRCm39) |
A636T |
probably damaging |
Het |
| Aldh3b2 |
A |
T |
19: 4,030,059 (GRCm39) |
I348F |
probably damaging |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,704,906 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,081,306 (GRCm39) |
R1361G |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
C |
1: 139,176,117 (GRCm39) |
N561S |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,923,460 (GRCm39) |
L690Q |
probably damaging |
Het |
| Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
| Enthd1 |
A |
G |
15: 80,337,025 (GRCm39) |
S470P |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,856,169 (GRCm39) |
Y3871C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gosr1 |
T |
C |
11: 76,645,561 (GRCm39) |
E73G |
possibly damaging |
Het |
| Il11 |
T |
C |
7: 4,778,995 (GRCm39) |
Y45C |
probably damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,538 (GRCm39) |
N259S |
probably damaging |
Het |
| Kdm5d |
G |
T |
Y: 899,830 (GRCm39) |
R132L |
probably damaging |
Het |
| Med21 |
C |
T |
6: 146,550,680 (GRCm39) |
R64* |
probably null |
Het |
| Muc19 |
A |
T |
15: 91,755,768 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp4e |
T |
A |
7: 23,020,888 (GRCm39) |
C458* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,959,919 (GRCm39) |
Q3525R |
possibly damaging |
Het |
| Oga |
A |
T |
19: 45,767,078 (GRCm39) |
D99E |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,843,490 (GRCm39) |
L1823S |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Prmt3 |
T |
A |
7: 49,430,105 (GRCm39) |
H69Q |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,804,212 (GRCm39) |
|
probably null |
Het |
| Rhoa |
T |
A |
9: 108,214,013 (GRCm39) |
I192N |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,178,157 (GRCm39) |
I1532V |
possibly damaging |
Het |
| Scn11a |
T |
C |
9: 119,624,733 (GRCm39) |
T530A |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,733,137 (GRCm39) |
F39L |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,275,206 (GRCm39) |
M134K |
probably damaging |
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 |
|
R3828:Cbr2
|
UTSW |
11 |
120,621,278 (GRCm39) |
missense |
probably benign |
|
|
R3829:Cbr2
|
UTSW |
11 |
120,621,278 (GRCm39) |
missense |
probably benign |
|
|
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'- AAACACAGAGCGAAGATTTACACTG -3'
(R):5'- ACCAACTCAGACCTGGTCAG -3'
Sequencing Primer
(F):5'- TTTACACTGAAGGACCTGGC -3'
(R):5'- AACTCAGACCTGGTCAGCCTTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation