Incidental Mutation 'R5978:Ptgr2'
| ID |
481259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgr2
|
| Ensembl Gene |
ENSMUSG00000072946 |
| Gene Name |
prostaglandin reductase 2 |
| Synonyms |
Zadh1, 9630002F03Rik, B830026H24Rik, 1810016I24Rik, PGR-2 |
| MMRRC Submission |
044160-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R5978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84332011-84362606 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 84342032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 27
(E27*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123614]
[ENSMUST00000123693]
[ENSMUST00000135001]
[ENSMUST00000146377]
[ENSMUST00000147363]
|
| AlphaFold |
Q8VDQ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000123614
AA Change: E27*
|
| SMART Domains |
Protein: ENSMUSP00000115704
Gene: ENSMUSG00000072946
AA Change: E27*
| 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 null
Transcript: ENSMUST00000123693
AA Change: E27*
|
| SMART Domains |
Protein: ENSMUSP00000115506
Gene: ENSMUSG00000072946
AA Change: E27*
| 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
AA Change: E27*
|
| SMART Domains |
Protein: ENSMUSP00000114559
Gene: ENSMUSG00000072946
AA Change: E27*
| 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
AA Change: E27*
|
| SMART Domains |
Protein: ENSMUSP00000119981
Gene: ENSMUSG00000072946
AA Change: E27*
| 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
AA Change: E27*
|
| SMART Domains |
Protein: ENSMUSP00000114766
Gene: ENSMUSG00000072946
AA Change: E27*
| 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: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks6 |
T |
A |
4: 47,049,252 (GRCm39) |
S218C |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,476,614 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
G |
5: 21,521,966 (GRCm39) |
I353L |
probably benign |
Het |
| Cst3 |
A |
T |
2: 148,714,741 (GRCm39) |
M112K |
probably benign |
Het |
| Cst3 |
T |
G |
2: 148,714,742 (GRCm39) |
M112L |
probably benign |
Het |
| Cyp2j11 |
A |
C |
4: 96,207,589 (GRCm39) |
L242R |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,037,361 (GRCm39) |
|
probably null |
Het |
| Espl1 |
A |
G |
15: 102,224,209 (GRCm39) |
I1253M |
possibly damaging |
Het |
| Fstl5 |
C |
T |
3: 76,052,392 (GRCm39) |
H41Y |
probably damaging |
Het |
| Gm11011 |
T |
C |
2: 169,426,361 (GRCm39) |
K84R |
unknown |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,113,465 (GRCm39) |
V923F |
probably damaging |
Het |
| Hnrnpll |
G |
A |
17: 80,341,620 (GRCm39) |
T473M |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,876,469 (GRCm39) |
Y845N |
probably damaging |
Het |
| Il34 |
T |
A |
8: 111,469,317 (GRCm39) |
D166V |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,664,979 (GRCm39) |
H595L |
probably benign |
Het |
| Krt77 |
T |
C |
15: 101,771,363 (GRCm39) |
I313M |
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,438,665 (GRCm39) |
E274G |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,739,936 (GRCm39) |
Y818C |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,320,204 (GRCm39) |
Y1046F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,424,438 (GRCm39) |
D1429V |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,388,291 (GRCm39) |
M325T |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,431,245 (GRCm39) |
I1902N |
probably damaging |
Het |
| Nkain3 |
A |
T |
4: 20,485,026 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
A |
T |
8: 95,215,221 (GRCm39) |
N940Y |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,256,703 (GRCm39) |
I107K |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,343,437 (GRCm39) |
S328P |
possibly damaging |
Het |
| Or1j17 |
A |
C |
2: 36,578,694 (GRCm39) |
K227Q |
probably benign |
Het |
| Parp8 |
A |
C |
13: 117,032,268 (GRCm39) |
S302A |
probably benign |
Het |
| Rnf115 |
T |
A |
3: 96,695,982 (GRCm39) |
I256N |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,502,614 (GRCm39) |
H3515L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,766,690 (GRCm39) |
|
probably null |
Het |
| Slc4a5 |
T |
A |
6: 83,254,518 (GRCm39) |
S572T |
probably benign |
Het |
| Slc4a9 |
T |
G |
18: 36,668,456 (GRCm39) |
I705S |
probably damaging |
Het |
| Spint4 |
C |
T |
2: 164,542,252 (GRCm39) |
P101L |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,620 (GRCm39) |
D212E |
probably benign |
Het |
| Tmem39a |
T |
A |
16: 38,411,392 (GRCm39) |
M449K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,639,143 (GRCm39) |
T13877A |
possibly damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,394,991 (GRCm39) |
N20S |
probably benign |
Het |
| Vmn1r14 |
C |
T |
6: 57,210,929 (GRCm39) |
S169F |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,849,181 (GRCm39) |
H2410R |
probably benign |
Het |
| Wdr81 |
G |
A |
11: 75,335,224 (GRCm39) |
L1781F |
probably damaging |
Het |
| Zfp91 |
A |
G |
19: 12,747,515 (GRCm39) |
I536T |
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 |
|
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 |
|
R5827:Ptgr2
|
UTSW |
12 |
84,342,110 (GRCm39) |
critical splice donor site |
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'- GGAGTACTTTAAATCCTAGGGGAAC -3'
(R):5'- CACTTGGAAGAACTTCATTAACCAC -3'
Sequencing Primer
(F):5'- GTGTACACCTTTAATCCCAGAATGG -3'
(R):5'- TCCTGGAGCTATGTAGACCAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation