Incidental Mutation 'R6472:Cyp2f2'
| ID |
516383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2f2
|
| Ensembl Gene |
ENSMUSG00000052974 |
| Gene Name |
cytochrome P450, family 2, subfamily f, polypeptide 2 |
| Synonyms |
Cyp2f |
| MMRRC Submission |
044605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R6472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26819380-26833085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26828649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 173
(R173H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003100]
[ENSMUST00000206552]
|
| AlphaFold |
P33267 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003100
AA Change: R173H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003100
Gene: ENSMUSG00000052974
AA Change: R173H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
488 |
3.7e-152 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153562
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206552
AA Change: R97H
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (30/30) |
| 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 protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to napthalene-induced toxicity in the lungs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
T |
16: 90,852,891 (GRCm39) |
S82T |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,085,991 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,596,783 (GRCm39) |
Y1238H |
probably benign |
Het |
| Ccn3 |
A |
T |
15: 54,612,668 (GRCm39) |
T226S |
possibly damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,823,491 (GRCm39) |
T334A |
probably damaging |
Het |
| Csrp3 |
G |
A |
7: 48,485,356 (GRCm39) |
T47I |
possibly damaging |
Het |
| Fads6 |
T |
C |
11: 115,176,962 (GRCm39) |
T165A |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,975 (GRCm39) |
S566P |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,180,463 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
A |
G |
13: 12,449,111 (GRCm39) |
D1897G |
probably benign |
Het |
| Il2ra |
G |
A |
2: 11,686,780 (GRCm39) |
E204K |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,541,868 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,257,273 (GRCm39) |
D230N |
probably benign |
Het |
| Or2a20 |
A |
G |
6: 43,194,293 (GRCm39) |
I149V |
probably benign |
Het |
| Or2aa1 |
G |
A |
11: 59,480,582 (GRCm39) |
T111I |
probably benign |
Het |
| Or7g22 |
T |
A |
9: 19,048,711 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,534 (GRCm39) |
L184* |
probably null |
Het |
| Pappa2 |
T |
C |
1: 158,662,369 (GRCm39) |
D1202G |
probably damaging |
Het |
| Pcp4l1 |
A |
T |
1: 171,002,004 (GRCm39) |
I52N |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,846,067 (GRCm39) |
W665* |
probably null |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,910,221 (GRCm39) |
K93R |
possibly damaging |
Het |
| Syt10 |
T |
G |
15: 89,698,761 (GRCm39) |
E194D |
probably benign |
Het |
| Tmem163 |
A |
C |
1: 127,423,471 (GRCm39) |
F264V |
probably benign |
Het |
| Trav3-1 |
G |
T |
14: 52,818,507 (GRCm39) |
E60D |
possibly damaging |
Het |
| Vmn1r237 |
G |
A |
17: 21,534,616 (GRCm39) |
S113N |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,246,610 (GRCm39) |
S651P |
possibly damaging |
Het |
| Wnt3 |
G |
A |
11: 103,699,100 (GRCm39) |
V69I |
possibly damaging |
Het |
|
| Other mutations in Cyp2f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Cyp2f2
|
APN |
7 |
26,821,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00953:Cyp2f2
|
APN |
7 |
26,829,242 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01781:Cyp2f2
|
APN |
7 |
26,829,846 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02817:Cyp2f2
|
APN |
7 |
26,828,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Cyp2f2
|
APN |
7 |
26,831,996 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0464:Cyp2f2
|
UTSW |
7 |
26,831,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1481:Cyp2f2
|
UTSW |
7 |
26,821,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1635:Cyp2f2
|
UTSW |
7 |
26,829,149 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1826:Cyp2f2
|
UTSW |
7 |
26,831,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Cyp2f2
|
UTSW |
7 |
26,828,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Cyp2f2
|
UTSW |
7 |
26,829,304 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6305:Cyp2f2
|
UTSW |
7 |
26,828,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7132:Cyp2f2
|
UTSW |
7 |
26,831,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7599:Cyp2f2
|
UTSW |
7 |
26,830,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7814:Cyp2f2
|
UTSW |
7 |
26,828,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7823:Cyp2f2
|
UTSW |
7 |
26,828,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7824:Cyp2f2
|
UTSW |
7 |
26,828,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7825:Cyp2f2
|
UTSW |
7 |
26,828,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8141:Cyp2f2
|
UTSW |
7 |
26,828,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8142:Cyp2f2
|
UTSW |
7 |
26,828,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8143:Cyp2f2
|
UTSW |
7 |
26,828,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8351:Cyp2f2
|
UTSW |
7 |
26,821,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Cyp2f2
|
UTSW |
7 |
26,831,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9095:Cyp2f2
|
UTSW |
7 |
26,830,667 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9548:Cyp2f2
|
UTSW |
7 |
26,829,170 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9726:Cyp2f2
|
UTSW |
7 |
26,821,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0064:Cyp2f2
|
UTSW |
7 |
26,832,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp2f2
|
UTSW |
7 |
26,821,332 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTTTGTTGTACATGACATTGCC -3'
(R):5'- TGTGGACCCATGATCCCATC -3'
Sequencing Primer
(F):5'- GGCCTGTCATATTGCACATTG -3'
(R):5'- GGACCCATGATCCCATCTGGTTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation