Incidental Mutation 'R5827:Ptgr2'
| ID |
450223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgr2
|
| Ensembl Gene |
ENSMUSG00000072946 |
| Gene Name |
prostaglandin reductase 2 |
| Synonyms |
Zadh1, 9630002F03Rik, B830026H24Rik, 1810016I24Rik, PGR-2 |
| MMRRC Submission |
043218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R5827 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84332011-84362606 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 84342110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123614]
[ENSMUST00000123693]
[ENSMUST00000135001]
[ENSMUST00000135001]
[ENSMUST00000146377]
[ENSMUST00000146377]
[ENSMUST00000147363]
[ENSMUST00000147363]
|
| AlphaFold |
Q8VDQ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000123614
|
| SMART Domains |
Protein: ENSMUSP00000115704
Gene: ENSMUSG00000072946
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N_2
|
4 |
165 |
5.4e-40 |
PFAM |
|
Pfam:ADH_zinc_N
|
166 |
287 |
1.3e-15 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
200 |
343 |
4.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123693
|
| SMART Domains |
Protein: ENSMUSP00000115506
Gene: ENSMUSG00000072946
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N_2
|
4 |
56 |
1.3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128541
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135001
|
| SMART Domains |
Protein: ENSMUSP00000114559
Gene: ENSMUSG00000072946
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
166 |
283 |
7.4e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135001
|
| SMART Domains |
Protein: ENSMUSP00000114559
Gene: ENSMUSG00000072946
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
166 |
283 |
7.4e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138733
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146377
|
| SMART Domains |
Protein: ENSMUSP00000119981
Gene: ENSMUSG00000072946
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
166 |
283 |
1.4e-16 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
200 |
343 |
6.9e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146377
|
| SMART Domains |
Protein: ENSMUSP00000119981
Gene: ENSMUSG00000072946
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
166 |
283 |
1.4e-16 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
200 |
343 |
6.9e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147363
|
| SMART Domains |
Protein: ENSMUSP00000114766
Gene: ENSMUSG00000072946
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
166 |
283 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147363
|
| SMART Domains |
Protein: ENSMUSP00000114766
Gene: ENSMUSG00000072946
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_zinc_N
|
166 |
283 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150720
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Agl |
T |
C |
3: 116,574,703 (GRCm39) |
I34V |
probably damaging |
Het |
| Cavin4 |
A |
T |
4: 48,672,074 (GRCm39) |
D173V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,716,078 (GRCm39) |
D884G |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,805,319 (GRCm39) |
R1196* |
probably null |
Het |
| Disc1 |
T |
C |
8: 125,862,104 (GRCm39) |
L492P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
| Fbxw4 |
T |
C |
19: 45,568,096 (GRCm39) |
T26A |
probably benign |
Het |
| H1f6 |
A |
G |
13: 23,880,185 (GRCm39) |
K113E |
possibly damaging |
Het |
| Klhl24 |
T |
A |
16: 19,938,871 (GRCm39) |
Y475* |
probably null |
Het |
| Map4k3 |
C |
T |
17: 80,900,712 (GRCm39) |
|
probably null |
Het |
| Mfsd6 |
T |
C |
1: 52,701,551 (GRCm39) |
E633G |
probably damaging |
Het |
| Mycn |
G |
A |
12: 12,989,794 (GRCm39) |
R201* |
probably null |
Het |
| Nek11 |
T |
C |
9: 105,191,944 (GRCm39) |
I155M |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 97,980,178 (GRCm39) |
V231I |
possibly damaging |
Het |
| Npnt |
A |
C |
3: 132,612,536 (GRCm39) |
V187G |
possibly damaging |
Het |
| Nr1d2 |
C |
A |
14: 18,222,248 (GRCm38) |
V8L |
possibly damaging |
Het |
| Nup188 |
C |
T |
2: 30,229,859 (GRCm39) |
T1359I |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,182 (GRCm39) |
I104L |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,266 (GRCm39) |
W149R |
probably damaging |
Het |
| Or5m11b |
C |
A |
2: 85,805,650 (GRCm39) |
P21Q |
probably benign |
Het |
| Or8g36 |
T |
A |
9: 39,422,354 (GRCm39) |
I221F |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,488,195 (GRCm39) |
R453Q |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,077 (GRCm39) |
E71G |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,011 (GRCm39) |
D335V |
possibly damaging |
Het |
| Pcsk9 |
C |
T |
4: 106,306,144 (GRCm39) |
G368R |
probably damaging |
Het |
| Rhebl1 |
T |
A |
15: 98,776,151 (GRCm39) |
I168F |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,097,036 (GRCm39) |
T106A |
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,372,422 (GRCm39) |
I530V |
probably benign |
Het |
| Skint10 |
T |
C |
4: 112,603,972 (GRCm39) |
T72A |
probably benign |
Het |
| Slx4 |
G |
T |
16: 3,819,148 (GRCm39) |
F8L |
possibly damaging |
Het |
| Tdp2 |
T |
C |
13: 25,015,836 (GRCm39) |
L41P |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,498,764 (GRCm39) |
I847V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,149,004 (GRCm39) |
E529G |
probably benign |
Het |
| Tnpo1 |
T |
C |
13: 98,993,416 (GRCm39) |
D590G |
probably damaging |
Het |
| Ube3d |
T |
C |
9: 86,254,489 (GRCm39) |
T331A |
possibly damaging |
Het |
| Ugt1a2 |
T |
A |
1: 88,128,787 (GRCm39) |
S143R |
probably damaging |
Het |
| Zfp58 |
A |
T |
13: 67,639,412 (GRCm39) |
C360S |
probably damaging |
Het |
|
| Other mutations in Ptgr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02382:Ptgr2
|
APN |
12 |
84,360,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03176:Ptgr2
|
APN |
12 |
84,354,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Ptgr2
|
UTSW |
12 |
84,349,096 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1915:Ptgr2
|
UTSW |
12 |
84,349,096 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4624:Ptgr2
|
UTSW |
12 |
84,355,128 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5978:Ptgr2
|
UTSW |
12 |
84,342,032 (GRCm39) |
nonsense |
probably null |
|
|
R5986:Ptgr2
|
UTSW |
12 |
84,355,120 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6019:Ptgr2
|
UTSW |
12 |
84,344,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6320:Ptgr2
|
UTSW |
12 |
84,349,111 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6526:Ptgr2
|
UTSW |
12 |
84,360,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7369:Ptgr2
|
UTSW |
12 |
84,339,080 (GRCm39) |
start gained |
probably benign |
|
|
R7401:Ptgr2
|
UTSW |
12 |
84,339,103 (GRCm39) |
start gained |
probably benign |
|
|
R7463:Ptgr2
|
UTSW |
12 |
84,339,072 (GRCm39) |
start gained |
probably benign |
|
|
R7583:Ptgr2
|
UTSW |
12 |
84,355,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Ptgr2
|
UTSW |
12 |
84,354,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8172:Ptgr2
|
UTSW |
12 |
84,360,783 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9005:Ptgr2
|
UTSW |
12 |
84,344,873 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9495:Ptgr2
|
UTSW |
12 |
84,354,647 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGCCAAAATGCAACTTTC -3'
(R):5'- GTCACTTGGAAGAACTTCATTAACC -3'
Sequencing Primer
(F):5'- GGCCAAAATGCAACTTTCTAAATTTC -3'
(R):5'- TCCTGGAGCTATGTAGACCAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation