Incidental Mutation 'R5159:Por'
| ID |
396869 |
| 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 |
042741-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135698894-135764180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135759771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 194
(Q194L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005651]
[ENSMUST00000043378]
[ENSMUST00000122113]
[ENSMUST00000127096]
[ENSMUST00000153500]
[ENSMUST00000153515]
|
| AlphaFold |
P37040 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005651
AA Change: Q194L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: Q194L
| 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: ENSMUST00000043378
|
| SMART Domains |
Protein: ENSMUSP00000045252
Gene: ENSMUSG00000039886
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMPIT
|
13 |
336 |
4.2e-159 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122113
AA Change: Q194L
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: Q194L
| 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 |
probably benign
Transcript: ENSMUST00000127096
|
| SMART Domains |
Protein: ENSMUSP00000119138
Gene: ENSMUSG00000005514
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
Pfam:Flavodoxin_1
|
127 |
168 |
5.7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147515
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153500
AA Change: Q194L
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121531
Gene: ENSMUSG00000005514
AA Change: Q194L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
22 |
44 |
N/A |
INTRINSIC |
|
Pfam:Flavodoxin_1
|
82 |
219 |
5.9e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153515
AA Change: Q194L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000121022
Gene: ENSMUSG00000005514
AA Change: Q194L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
22 |
44 |
N/A |
INTRINSIC |
|
Pfam:Flavodoxin_1
|
82 |
219 |
3.2e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149684
|
| Meta Mutation Damage Score |
0.1093 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (63/63) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,352 (GRCm39) |
T412A |
probably benign |
Het |
| Aldh5a1 |
T |
A |
13: 25,097,776 (GRCm39) |
M420L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,884,711 (GRCm39) |
S77P |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,856,317 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
A |
G |
17: 28,100,530 (GRCm39) |
H323R |
probably damaging |
Het |
| Bmp5 |
T |
A |
9: 75,801,035 (GRCm39) |
F388L |
probably damaging |
Het |
| Brca2 |
T |
G |
5: 150,465,573 (GRCm39) |
V1779G |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,932,483 (GRCm39) |
S147T |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,519,233 (GRCm39) |
E409G |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,632,886 (GRCm39) |
R29W |
probably damaging |
Het |
| Clic6 |
T |
A |
16: 92,324,954 (GRCm39) |
Y371N |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,425,991 (GRCm39) |
|
probably null |
Het |
| Coro1a |
A |
T |
7: 126,302,221 (GRCm39) |
V42D |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Crb1 |
A |
C |
1: 139,170,756 (GRCm39) |
V817G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,549,378 (GRCm39) |
T299A |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,029,738 (GRCm39) |
R1019C |
probably benign |
Het |
| Exoc8 |
T |
C |
8: 125,622,952 (GRCm39) |
T472A |
probably benign |
Het |
| Fancc |
A |
G |
13: 63,469,679 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,852,733 (GRCm39) |
M1340K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,604,064 (GRCm39) |
L244P |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,831 (GRCm39) |
N424S |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,875 (GRCm39) |
D261G |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,720,192 (GRCm39) |
I272L |
probably benign |
Het |
| Lpcat3 |
A |
G |
6: 124,676,357 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,236 (GRCm39) |
D304G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,774,008 (GRCm39) |
I5540V |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,970,563 (GRCm39) |
S231G |
probably benign |
Het |
| Mup8 |
G |
A |
4: 60,221,062 (GRCm39) |
T101M |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,179,179 (GRCm39) |
I524T |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,589,189 (GRCm39) |
C1679R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,416 (GRCm39) |
S456P |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,719 (GRCm39) |
N389S |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,617,507 (GRCm39) |
S620R |
probably benign |
Het |
| Plod3 |
T |
A |
5: 137,023,932 (GRCm39) |
|
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,780,646 (GRCm39) |
Y396N |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,935,053 (GRCm39) |
|
probably null |
Het |
| Rcan3 |
C |
T |
4: 135,152,592 (GRCm39) |
S43N |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,098 (GRCm39) |
T31A |
probably damaging |
Het |
| Rnps1 |
T |
G |
17: 24,637,486 (GRCm39) |
S43A |
unknown |
Het |
| Rp1 |
T |
C |
1: 4,416,426 (GRCm39) |
D1562G |
possibly damaging |
Het |
| Rps19-ps13 |
A |
G |
18: 40,859,428 (GRCm39) |
|
noncoding transcript |
Het |
| Serpina3c |
A |
T |
12: 104,115,771 (GRCm39) |
S258T |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,460,181 (GRCm39) |
R519Q |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,787,885 (GRCm39) |
T955A |
probably benign |
Het |
| Stfa3 |
T |
C |
16: 36,272,581 (GRCm39) |
K40E |
probably damaging |
Het |
| Tmem87b |
A |
G |
2: 128,666,378 (GRCm39) |
E75G |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,298 (GRCm39) |
Q595R |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trat1 |
T |
C |
16: 48,555,300 (GRCm39) |
D144G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,358 (GRCm39) |
V15A |
probably benign |
Het |
| Tulp1 |
A |
C |
17: 28,578,034 (GRCm39) |
|
probably null |
Het |
| Txndc15 |
T |
A |
13: 55,865,734 (GRCm39) |
M66K |
probably benign |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,775 (GRCm39) |
N144I |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,353,796 (GRCm39) |
T113A |
probably benign |
Het |
| Xpo5 |
A |
C |
17: 46,528,535 (GRCm39) |
E313D |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
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 |
|
R4282:Por
|
UTSW |
5 |
135,744,815 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
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 |
|
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'- TGTTCTCAGGGCCCATAGAG -3'
(R):5'- CTGCTCCCTCCATGTGATGAAATC -3'
Sequencing Primer
(F):5'- TAGAGCCAGAGACTTCCAGTGC -3'
(R):5'- GTGATGAAATCCTCTTCCAAGCTGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation