Incidental Mutation 'R2900:Cyp26b1'
| ID |
261439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp26b1
|
| Ensembl Gene |
ENSMUSG00000063415 |
| Gene Name |
cytochrome P450, family 26, subfamily b, polypeptide 1 |
| Synonyms |
retinoic acid B1, CP26, P450RAI-2 |
| MMRRC Submission |
040488-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2900 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
84548396-84570890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84553623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 252
(R252H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077705]
[ENSMUST00000168003]
[ENSMUST00000204109]
[ENSMUST00000204146]
[ENSMUST00000205228]
|
| AlphaFold |
Q811W2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077705
AA Change: R252H
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000076886
Gene: ENSMUSG00000063415
AA Change: R252H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:p450
|
50 |
490 |
8.1e-61 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168003
AA Change: R252H
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128391
Gene: ENSMUSG00000063415
AA Change: R252H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:p450
|
50 |
490 |
8.1e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204109
AA Change: R177H
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000144998
Gene: ENSMUSG00000063415
AA Change: R177H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:p450
|
65 |
415 |
5.8e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204146
AA Change: R252H
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145092
Gene: ENSMUSG00000063415
AA Change: R252H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:p450
|
50 |
490 |
8.1e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205228
AA Change: R61H
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000144836
Gene: ENSMUSG00000063415
AA Change: R61H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
13 |
299 |
5.9e-49 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Limb morphogenesis and proximal-distal patterning is disrupted in homozygous null fetuses. Mutant mice are born, however they die immediately after birth exhibiting respiratory distress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
C |
T |
10: 41,300,751 (GRCm39) |
H1654Y |
unknown |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,176 (GRCm39) |
V151A |
possibly damaging |
Het |
| Coro6 |
A |
G |
11: 77,358,639 (GRCm39) |
I233V |
probably benign |
Het |
| Dcdc2a |
C |
A |
13: 25,304,481 (GRCm39) |
D351E |
probably benign |
Het |
| Flnc |
T |
C |
6: 29,448,584 (GRCm39) |
F1274S |
probably damaging |
Het |
| Fut7 |
A |
G |
2: 25,313,923 (GRCm39) |
K33E |
probably benign |
Het |
| Gpsm1 |
G |
T |
2: 26,235,174 (GRCm39) |
V480L |
probably benign |
Het |
| Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
| Ighv1-4 |
A |
G |
12: 114,450,788 (GRCm39) |
S107P |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,680,713 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
| Ms4a6d |
C |
T |
19: 11,567,508 (GRCm39) |
G23D |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,211 (GRCm39) |
D135E |
probably benign |
Het |
| Pdlim1 |
C |
T |
19: 40,211,519 (GRCm39) |
C258Y |
probably damaging |
Het |
| Ppp6r2 |
C |
A |
15: 89,166,198 (GRCm39) |
P734H |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Stat5a |
G |
A |
11: 100,764,957 (GRCm39) |
V227M |
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,939,034 (GRCm39) |
|
probably null |
Het |
| Syn2 |
C |
T |
6: 115,214,295 (GRCm39) |
T173I |
possibly damaging |
Het |
| Thbd |
C |
A |
2: 148,248,134 (GRCm39) |
*578L |
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,754,786 (GRCm39) |
I286T |
probably benign |
Het |
| Zfp566 |
T |
C |
7: 29,777,668 (GRCm39) |
D171G |
possibly damaging |
Het |
| Zfp938 |
T |
C |
10: 82,061,340 (GRCm39) |
R427G |
possibly damaging |
Het |
|
| Other mutations in Cyp26b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01713:Cyp26b1
|
APN |
6 |
84,551,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02530:Cyp26b1
|
APN |
6 |
84,551,294 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02624:Cyp26b1
|
APN |
6 |
84,561,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02676:Cyp26b1
|
APN |
6 |
84,553,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Cyp26b1
|
UTSW |
6 |
84,551,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Cyp26b1
|
UTSW |
6 |
84,554,190 (GRCm39) |
splice site |
probably benign |
|
|
R0268:Cyp26b1
|
UTSW |
6 |
84,551,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Cyp26b1
|
UTSW |
6 |
84,551,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0575:Cyp26b1
|
UTSW |
6 |
84,552,288 (GRCm39) |
splice site |
probably benign |
|
|
R1167:Cyp26b1
|
UTSW |
6 |
84,561,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Cyp26b1
|
UTSW |
6 |
84,553,653 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1512:Cyp26b1
|
UTSW |
6 |
84,553,979 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1791:Cyp26b1
|
UTSW |
6 |
84,561,441 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1799:Cyp26b1
|
UTSW |
6 |
84,561,254 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2065:Cyp26b1
|
UTSW |
6 |
84,553,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2103:Cyp26b1
|
UTSW |
6 |
84,552,032 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4510:Cyp26b1
|
UTSW |
6 |
84,551,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Cyp26b1
|
UTSW |
6 |
84,551,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Cyp26b1
|
UTSW |
6 |
84,553,954 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5585:Cyp26b1
|
UTSW |
6 |
84,554,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7229:Cyp26b1
|
UTSW |
6 |
84,554,132 (GRCm39) |
nonsense |
probably null |
|
|
R7497:Cyp26b1
|
UTSW |
6 |
84,553,964 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7672:Cyp26b1
|
UTSW |
6 |
84,561,351 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8346:Cyp26b1
|
UTSW |
6 |
84,554,150 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9020:Cyp26b1
|
UTSW |
6 |
84,552,056 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9029:Cyp26b1
|
UTSW |
6 |
84,554,035 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9042:Cyp26b1
|
UTSW |
6 |
84,553,590 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9068:Cyp26b1
|
UTSW |
6 |
84,551,379 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9536:Cyp26b1
|
UTSW |
6 |
84,553,999 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9779:Cyp26b1
|
UTSW |
6 |
84,552,113 (GRCm39) |
missense |
probably benign |
|
|
X0063:Cyp26b1
|
UTSW |
6 |
84,552,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cyp26b1
|
UTSW |
6 |
84,554,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Cyp26b1
|
UTSW |
6 |
84,554,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAAAGCAGCCAGGTAAC -3'
(R):5'- AATGCACTACCGGATGAGGC -3'
Sequencing Primer
(F):5'- AGGTAACCCTCTGCTCTGG -3'
(R):5'- CTACCGGATGAGGCTGGGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation