Incidental Mutation 'IGL03176:Ptgr2'
| ID |
411996 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptgr2
|
| Ensembl Gene |
ENSMUSG00000072946 |
| Gene Name |
prostaglandin reductase 2 |
| Synonyms |
Zadh1, 9630002F03Rik, B830026H24Rik, 1810016I24Rik, PGR-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL03176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84332011-84362606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84354668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 283
(T283I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123614]
[ENSMUST00000123693]
[ENSMUST00000135001]
[ENSMUST00000146377]
[ENSMUST00000147363]
|
| AlphaFold |
Q8VDQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123614
AA Change: T283I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115704
Gene: ENSMUSG00000072946
AA Change: T283I
| 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: ENSMUST00000128541
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135001
AA Change: T283I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114559
Gene: ENSMUSG00000072946
AA Change: T283I
| 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 damaging
Transcript: ENSMUST00000146377
AA Change: T283I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119981
Gene: ENSMUSG00000072946
AA Change: T283I
| 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 damaging
Transcript: ENSMUST00000147363
AA Change: T283I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114766
Gene: ENSMUSG00000072946
AA Change: T283I
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
C |
A |
1: 63,602,575 (GRCm39) |
P579Q |
probably damaging |
Het |
| Adam6a |
A |
G |
12: 113,509,822 (GRCm39) |
T732A |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,985,530 (GRCm39) |
N2271K |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,979,813 (GRCm39) |
S366P |
probably damaging |
Het |
| Akr1a1 |
A |
G |
4: 116,496,272 (GRCm39) |
L213S |
probably damaging |
Het |
| Ammecr1l |
T |
A |
18: 31,905,102 (GRCm39) |
D114E |
possibly damaging |
Het |
| Casq2 |
G |
T |
3: 102,033,970 (GRCm39) |
V167L |
possibly damaging |
Het |
| Cd164l2 |
T |
C |
4: 132,951,565 (GRCm39) |
I172T |
possibly damaging |
Het |
| Clec4g |
C |
T |
8: 3,768,441 (GRCm39) |
V97M |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,913,011 (GRCm39) |
N1068K |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,485,562 (GRCm39) |
M1V |
probably null |
Het |
| Eya3 |
A |
G |
4: 132,439,233 (GRCm39) |
E437G |
possibly damaging |
Het |
| Fbln1 |
C |
T |
15: 85,128,507 (GRCm39) |
T568I |
possibly damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,298,564 (GRCm39) |
N353I |
probably damaging |
Het |
| Gm10272 |
A |
T |
10: 77,542,467 (GRCm39) |
H3L |
probably null |
Het |
| Gm15130 |
A |
G |
2: 110,978,846 (GRCm39) |
S32P |
unknown |
Het |
| Gm20379 |
C |
A |
13: 92,442,529 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,935,559 (GRCm39) |
Y644N |
probably damaging |
Het |
| Krtap4-9 |
T |
C |
11: 99,676,106 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,030 (GRCm39) |
N739D |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,836,481 (GRCm39) |
T49M |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,562,520 (GRCm39) |
|
probably null |
Het |
| Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
| Rnd1 |
A |
T |
15: 98,568,569 (GRCm39) |
L203H |
probably damaging |
Het |
| Rnf186 |
A |
G |
4: 138,695,231 (GRCm39) |
N257S |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,328,357 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,756,909 (GRCm39) |
Q1582* |
probably null |
Het |
| Sntg2 |
G |
A |
12: 30,317,022 (GRCm39) |
|
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,184,825 (GRCm39) |
D789G |
probably benign |
Het |
| Strc |
A |
C |
2: 121,202,661 (GRCm39) |
L1168R |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,301,993 (GRCm39) |
S319T |
possibly damaging |
Het |
| Vmn1r88 |
A |
T |
7: 12,911,779 (GRCm39) |
D45V |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,801,533 (GRCm39) |
F3531I |
probably benign |
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 |
|
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 |
|
R5827:Ptgr2
|
UTSW |
12 |
84,342,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation