Incidental Mutation 'R3785:Cyp2r1'
| ID |
272213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2r1
|
| Ensembl Gene |
ENSMUSG00000030670 |
| Gene Name |
cytochrome P450, family 2, subfamily r, polypeptide 1 |
| Synonyms |
|
| MMRRC Submission |
040752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3785 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
114149358-114162283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114153931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 88
(V88I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032908]
[ENSMUST00000119712]
[ENSMUST00000128587]
[ENSMUST00000138712]
[ENSMUST00000147428]
[ENSMUST00000211506]
|
| AlphaFold |
Q6VVW9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032908
AA Change: V88I
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032908
Gene: ENSMUSG00000030670
AA Change: V88I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:p450
|
40 |
498 |
7e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119712
AA Change: V88I
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112818
Gene: ENSMUSG00000030670
AA Change: V88I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:p450
|
40 |
124 |
2.3e-15 |
PFAM |
|
Pfam:p450
|
115 |
287 |
1.8e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128587
AA Change: V13I
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121924
Gene: ENSMUSG00000030670
AA Change: V13I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
260 |
5.7e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133484
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138712
|
| SMART Domains |
Protein: ENSMUSP00000123556
Gene: ENSMUSG00000030670
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
SCOP:d1dt6a_
|
40 |
76 |
5e-7 |
SMART |
|
PDB:3CZH|B
|
51 |
76 |
3e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147428
|
| SMART Domains |
Protein: ENSMUSP00000119605
Gene: ENSMUSG00000030670
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
SCOP:d1dt6a_
|
40 |
76 |
5e-7 |
SMART |
|
PDB:3CZH|B
|
51 |
76 |
3e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211506
|
| Meta Mutation Damage Score |
0.0977 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
95% (38/40) |
| 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 of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit more than a 50% reduction in serum 25-hydroxyvitamin D3 levels but remain healthy and show normal serum 1alpha,25-dihydroxyvitamin D3 levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| A2ml1 |
C |
T |
6: 128,521,887 (GRCm39) |
|
probably null |
Het |
| Aak1 |
T |
C |
6: 86,942,560 (GRCm39) |
F701S |
unknown |
Het |
| Arid2 |
T |
A |
15: 96,270,439 (GRCm39) |
D1517E |
possibly damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dnah11 |
G |
T |
12: 117,981,337 (GRCm39) |
Q2610K |
probably damaging |
Het |
| Gm5698 |
T |
C |
1: 31,016,560 (GRCm39) |
T164A |
probably benign |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,956 (GRCm39) |
T76A |
probably benign |
Het |
| Htra3 |
A |
T |
5: 35,828,472 (GRCm39) |
L136H |
probably benign |
Het |
| Ifitm10 |
G |
A |
7: 141,882,335 (GRCm39) |
T145I |
possibly damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Kcnd3 |
C |
A |
3: 105,575,541 (GRCm39) |
T555K |
possibly damaging |
Het |
| Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 12,930,099 (GRCm39) |
G40C |
probably damaging |
Het |
| Mettl3 |
A |
T |
14: 52,537,363 (GRCm39) |
I102N |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
| Mus81 |
G |
A |
19: 5,535,389 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Mypn |
C |
A |
10: 63,028,961 (GRCm39) |
R34L |
probably benign |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,831 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,678 (GRCm39) |
V197A |
probably benign |
Het |
| Or9g3 |
G |
A |
2: 85,589,797 (GRCm39) |
P308S |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rnf5 |
A |
G |
17: 34,820,906 (GRCm39) |
|
probably null |
Het |
| Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
| Slc13a4 |
T |
A |
6: 35,264,827 (GRCm39) |
T131S |
probably damaging |
Het |
| Slc9a4 |
C |
A |
1: 40,623,130 (GRCm39) |
P123Q |
probably damaging |
Het |
| Stxbp4 |
T |
A |
11: 90,426,441 (GRCm39) |
|
probably null |
Het |
| Swt1 |
T |
C |
1: 151,255,155 (GRCm39) |
D814G |
probably benign |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,604,296 (GRCm39) |
|
probably benign |
Het |
| Txnl4b |
C |
T |
8: 110,299,409 (GRCm39) |
A123V |
probably damaging |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Zfp26 |
A |
T |
9: 20,349,098 (GRCm39) |
C489S |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,820,153 (GRCm39) |
T934M |
possibly damaging |
Het |
|
| Other mutations in Cyp2r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00535:Cyp2r1
|
APN |
7 |
114,151,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01515:Cyp2r1
|
APN |
7 |
114,151,947 (GRCm39) |
splice site |
probably benign |
|
|
R0178:Cyp2r1
|
UTSW |
7 |
114,149,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0518:Cyp2r1
|
UTSW |
7 |
114,152,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0686:Cyp2r1
|
UTSW |
7 |
114,151,246 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1772:Cyp2r1
|
UTSW |
7 |
114,152,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2044:Cyp2r1
|
UTSW |
7 |
114,149,640 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6248:Cyp2r1
|
UTSW |
7 |
114,161,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6995:Cyp2r1
|
UTSW |
7 |
114,152,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Cyp2r1
|
UTSW |
7 |
114,151,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7063:Cyp2r1
|
UTSW |
7 |
114,152,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7538:Cyp2r1
|
UTSW |
7 |
114,162,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Cyp2r1
|
UTSW |
7 |
114,153,879 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7680:Cyp2r1
|
UTSW |
7 |
114,152,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7882:Cyp2r1
|
UTSW |
7 |
114,153,824 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8054:Cyp2r1
|
UTSW |
7 |
114,151,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8116:Cyp2r1
|
UTSW |
7 |
114,149,590 (GRCm39) |
missense |
probably benign |
|
|
R8326:Cyp2r1
|
UTSW |
7 |
114,152,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Cyp2r1
|
UTSW |
7 |
114,152,047 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R9481:Cyp2r1
|
UTSW |
7 |
114,152,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Cyp2r1
|
UTSW |
7 |
114,151,207 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1088:Cyp2r1
|
UTSW |
7 |
114,151,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp2r1
|
UTSW |
7 |
114,152,574 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCCTTAAATCCAGGTTTCAC -3'
(R):5'- ATCGTGCTGTCTAAACATTGTCAAG -3'
Sequencing Primer
(F):5'- CCTTAAATCCAGGTTTCACAAAGTAC -3'
(R):5'- AGGGATAGGGTCACATGT -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation