Incidental Mutation 'R4282:Por'
ID |
322937 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Por
|
Ensembl Gene |
ENSMUSG00000005514 |
Gene Name |
cytochrome p450 oxidoreductase |
Synonyms |
NADH cytochrome P450 oxydoreductase, 4933424M13Rik, CYPOR, CPR |
MMRRC Submission |
041650-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4282 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
135698894-135764180 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 135744815 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 26
(T26K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005651]
[ENSMUST00000122113]
[ENSMUST00000153500]
[ENSMUST00000153515]
|
AlphaFold |
P37040 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005651
AA Change: T26K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000005651 Gene: ENSMUSG00000005514 AA Change: T26K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Flavodoxin_1
|
82 |
219 |
1.6e-40 |
PFAM |
Pfam:FAD_binding_1
|
274 |
493 |
1.3e-84 |
PFAM |
Pfam:NAD_binding_1
|
530 |
642 |
2.8e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122113
AA Change: T26K
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112924 Gene: ENSMUSG00000005514 AA Change: T26K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Flavodoxin_1
|
82 |
219 |
2.6e-40 |
PFAM |
Pfam:FAD_binding_1
|
274 |
493 |
5.1e-87 |
PFAM |
Pfam:NAD_binding_1
|
530 |
605 |
3.9e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147515
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153500
AA Change: T26K
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000121531 Gene: ENSMUSG00000005514 AA Change: T26K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
22 |
44 |
N/A |
INTRINSIC |
Pfam:Flavodoxin_1
|
82 |
219 |
5.9e-41 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153515
AA Change: T26K
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000121022 Gene: ENSMUSG00000005514 AA Change: T26K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
22 |
44 |
N/A |
INTRINSIC |
Pfam:Flavodoxin_1
|
82 |
219 |
3.2e-41 |
PFAM |
|
Meta Mutation Damage Score |
0.3184 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (59/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted null mutations exhibit defects of the neural tube, eye, heart, and limbs, retarded growth, and prenatal lethality. Liver-specific knockouts exhibit increased liver weight, hepatic lipidosis, and impaired drug metabolism. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700092K14Rik |
A |
C |
11: 114,089,970 (GRCm39) |
|
noncoding transcript |
Het |
Abca17 |
G |
T |
17: 24,518,034 (GRCm39) |
D758E |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,885,155 (GRCm39) |
V65A |
possibly damaging |
Het |
Adgra2 |
T |
A |
8: 27,609,272 (GRCm39) |
M616K |
possibly damaging |
Het |
Aldh3b2 |
A |
G |
19: 4,027,636 (GRCm39) |
D59G |
probably benign |
Het |
Ankrd28 |
A |
G |
14: 31,467,182 (GRCm39) |
V260A |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,627,720 (GRCm39) |
V689A |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,302,296 (GRCm39) |
F1653S |
probably benign |
Het |
Cd55b |
T |
C |
1: 130,344,596 (GRCm39) |
D213G |
probably damaging |
Het |
Colgalt2 |
G |
A |
1: 152,344,282 (GRCm39) |
V115M |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,447,427 (GRCm39) |
V1138A |
probably damaging |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Dus2 |
C |
T |
8: 106,775,286 (GRCm39) |
A271V |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fancg |
T |
C |
4: 43,003,830 (GRCm39) |
D533G |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,340,770 (GRCm39) |
V1021A |
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Hspb6 |
T |
C |
7: 30,252,889 (GRCm39) |
S44P |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,646,190 (GRCm39) |
I50V |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,269,515 (GRCm39) |
N476S |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,722,946 (GRCm39) |
D810G |
probably damaging |
Het |
Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
Maml2 |
C |
A |
9: 13,531,406 (GRCm39) |
L207I |
possibly damaging |
Het |
Myo3a |
A |
T |
2: 22,345,089 (GRCm39) |
E508D |
probably benign |
Het |
Nav1 |
T |
A |
1: 135,385,651 (GRCm39) |
|
probably benign |
Het |
Ndrg3 |
A |
T |
2: 156,790,214 (GRCm39) |
C90S |
possibly damaging |
Het |
Orc1 |
A |
G |
4: 108,463,471 (GRCm39) |
S663G |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,583,195 (GRCm39) |
L767H |
probably damaging |
Het |
Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
Qsox1 |
T |
A |
1: 155,662,671 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
T |
A |
12: 11,506,465 (GRCm39) |
V129D |
probably benign |
Het |
Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
Rxfp2 |
T |
G |
5: 149,993,735 (GRCm39) |
V585G |
possibly damaging |
Het |
Sftpd |
G |
A |
14: 40,894,537 (GRCm39) |
T294I |
probably benign |
Het |
Sh3gl1 |
A |
G |
17: 56,343,456 (GRCm39) |
S2P |
probably damaging |
Het |
Slc38a10 |
A |
T |
11: 120,020,090 (GRCm39) |
F321I |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,074,687 (GRCm39) |
|
probably null |
Het |
Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
Slit1 |
T |
C |
19: 41,602,856 (GRCm39) |
E985G |
probably benign |
Het |
Smurf1 |
C |
T |
5: 144,819,403 (GRCm39) |
E575K |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
Tmem182 |
T |
C |
1: 40,877,530 (GRCm39) |
I135T |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,073,922 (GRCm39) |
Y298C |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,462,641 (GRCm39) |
C1026R |
probably damaging |
Het |
Troap |
A |
G |
15: 98,976,713 (GRCm39) |
D279G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,800,606 (GRCm39) |
C579S |
probably damaging |
Het |
Zbtb18 |
A |
G |
1: 177,275,045 (GRCm39) |
D126G |
probably damaging |
Het |
|
Other mutations in Por |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01453:Por
|
APN |
5 |
135,763,040 (GRCm39) |
nonsense |
probably null |
|
IGL02126:Por
|
APN |
5 |
135,744,829 (GRCm39) |
missense |
probably benign |
0.00 |
R0201:Por
|
UTSW |
5 |
135,760,032 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0355:Por
|
UTSW |
5 |
135,761,438 (GRCm39) |
missense |
probably benign |
0.38 |
R1755:Por
|
UTSW |
5 |
135,758,339 (GRCm39) |
nonsense |
probably null |
|
R1886:Por
|
UTSW |
5 |
135,763,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R4057:Por
|
UTSW |
5 |
135,760,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R4761:Por
|
UTSW |
5 |
135,754,784 (GRCm39) |
intron |
probably benign |
|
R5057:Por
|
UTSW |
5 |
135,759,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R5064:Por
|
UTSW |
5 |
135,762,649 (GRCm39) |
missense |
probably benign |
0.23 |
R5159:Por
|
UTSW |
5 |
135,759,771 (GRCm39) |
missense |
probably benign |
0.38 |
R5580:Por
|
UTSW |
5 |
135,762,675 (GRCm39) |
missense |
probably damaging |
0.98 |
R5895:Por
|
UTSW |
5 |
135,744,838 (GRCm39) |
missense |
probably benign |
0.03 |
R7225:Por
|
UTSW |
5 |
135,761,441 (GRCm39) |
missense |
probably benign |
|
R7422:Por
|
UTSW |
5 |
135,763,773 (GRCm39) |
missense |
probably benign |
0.06 |
R7461:Por
|
UTSW |
5 |
135,758,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R7488:Por
|
UTSW |
5 |
135,762,498 (GRCm39) |
missense |
probably benign |
0.00 |
R7613:Por
|
UTSW |
5 |
135,758,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R7649:Por
|
UTSW |
5 |
135,763,359 (GRCm39) |
missense |
probably damaging |
0.99 |
R7736:Por
|
UTSW |
5 |
135,759,976 (GRCm39) |
missense |
probably damaging |
0.98 |
R8696:Por
|
UTSW |
5 |
135,763,112 (GRCm39) |
missense |
probably benign |
|
R9086:Por
|
UTSW |
5 |
135,744,918 (GRCm39) |
critical splice donor site |
probably null |
|
R9398:Por
|
UTSW |
5 |
135,754,597 (GRCm39) |
missense |
unknown |
|
R9638:Por
|
UTSW |
5 |
135,754,615 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCCTCACTCTGAAGCGTTC -3'
(R):5'- CAGGAAGCTGGCTCCTTATGTC -3'
Sequencing Primer
(F):5'- AGCGTTCAGATGGGCAC -3'
(R):5'- CACCTTGGGGAACAGTGTG -3'
|
Posted On |
2015-06-20 |