Incidental Mutation 'IGL02382:Ptgr2'
ID291426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptgr2
Ensembl Gene ENSMUSG00000072946
Gene Nameprostaglandin reductase 2
SynonymsPGR-2, Zadh1, B830026H24Rik, 9630002F03Rik, 1810016I24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #IGL02382
Quality Score
Status
Chromosome12
Chromosomal Location84285232-84315832 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84313948 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 331 (S331P)
Ref Sequence ENSEMBL: ENSMUSP00000119981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045931] [ENSMUST00000123614] [ENSMUST00000123693] [ENSMUST00000135001] [ENSMUST00000146377] [ENSMUST00000147363] [ENSMUST00000220931] [ENSMUST00000221656] [ENSMUST00000222258] [ENSMUST00000222606] [ENSMUST00000222832]
Predicted Effect probably benign
Transcript: ENSMUST00000045931
SMART Domains Protein: ENSMUSP00000045550
Gene: ENSMUSG00000042472

DomainStartEndE-ValueType
ZnF_C2H2 219 243 1.04e-3 SMART
ZnF_C2H2 249 273 6.88e-4 SMART
ZnF_C2H2 279 303 1.13e-4 SMART
ZnF_C2H2 309 333 1.45e-2 SMART
ZnF_C2H2 339 361 5.59e-4 SMART
low complexity region 400 417 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123614
AA Change: S331P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115704
Gene: ENSMUSG00000072946
AA Change: S331P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:ADH_N_2 4 56 1.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135001
SMART Domains Protein: ENSMUSP00000114559
Gene: ENSMUSG00000072946

DomainStartEndE-ValueType
Pfam:ADH_zinc_N 166 283 7.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146377
AA Change: S331P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119981
Gene: ENSMUSG00000072946
AA Change: S331P

DomainStartEndE-ValueType
Pfam:ADH_zinc_N 166 283 1.4e-16 PFAM
Pfam:ADH_zinc_N_2 200 343 6.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147363
SMART Domains Protein: ENSMUSP00000114766
Gene: ENSMUSG00000072946

DomainStartEndE-ValueType
Pfam:ADH_zinc_N 166 283 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221490
Predicted Effect probably benign
Transcript: ENSMUST00000221656
Predicted Effect probably benign
Transcript: ENSMUST00000222258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222431
Predicted Effect probably benign
Transcript: ENSMUST00000222606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222984
Predicted Effect probably benign
Transcript: ENSMUST00000222832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222773
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,459,749 probably null Het
Aoc2 T C 11: 101,326,672 L527P probably damaging Het
Arhgef15 C A 11: 68,954,030 R247L probably damaging Het
Armcx2 T C X: 134,805,667 T406A probably benign Het
Armcx5 T C X: 135,746,828 F551S probably damaging Het
Ccrl2 T C 9: 111,055,879 K184E probably benign Het
Cenpe A G 3: 135,247,386 I1534V probably benign Het
Cflar T A 1: 58,752,681 I381K probably benign Het
Crb1 T A 1: 139,237,614 N924I probably damaging Het
Crebbp A G 16: 4,108,070 V729A probably damaging Het
Dab2 T A 15: 6,436,987 V615D possibly damaging Het
Edrf1 T C 7: 133,650,615 probably benign Het
Ep400 G A 5: 110,701,728 T1409I unknown Het
Gm14406 C A 2: 177,569,195 probably benign Het
Kptn T A 7: 16,124,020 S258T probably benign Het
Mbnl1 G T 3: 60,625,142 E291* probably null Het
Mcm4 A T 16: 15,624,738 L843Q probably damaging Het
Mgrn1 A G 16: 4,922,618 N274D probably damaging Het
Olfr26 G A 9: 38,855,068 G2D probably benign Het
Olfr532 T A 7: 140,419,603 T57S possibly damaging Het
Phactr4 A T 4: 132,370,841 V335E probably damaging Het
Ranbp9 T C 13: 43,436,146 probably null Het
Setd5 A G 6: 113,143,640 T937A probably benign Het
Slc27a4 C T 2: 29,809,843 R265C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tenm3 A G 8: 48,235,476 Y2359H probably damaging Het
Tnip3 T C 6: 65,614,795 probably null Het
Zfc3h1 C T 10: 115,416,876 Q1365* probably null Het
Other mutations in Ptgr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03176:Ptgr2 APN 12 84307894 missense probably damaging 1.00
R1914:Ptgr2 UTSW 12 84302322 missense probably benign 0.11
R1915:Ptgr2 UTSW 12 84302322 missense probably benign 0.11
R4624:Ptgr2 UTSW 12 84308354 missense possibly damaging 0.70
R5827:Ptgr2 UTSW 12 84295336 critical splice donor site probably null
R5978:Ptgr2 UTSW 12 84295258 nonsense probably null
R5986:Ptgr2 UTSW 12 84308346 missense possibly damaging 0.85
R6019:Ptgr2 UTSW 12 84298146 missense probably damaging 1.00
R6320:Ptgr2 UTSW 12 84302337 missense probably benign 0.05
R6526:Ptgr2 UTSW 12 84313952 missense probably damaging 1.00
R7369:Ptgr2 UTSW 12 84292306 start gained probably benign
R7401:Ptgr2 UTSW 12 84292329 start gained probably benign
R7463:Ptgr2 UTSW 12 84292298 start gained probably benign
R7583:Ptgr2 UTSW 12 84308405 missense probably damaging 1.00
R7793:Ptgr2 UTSW 12 84307801 missense probably damaging 1.00
R8172:Ptgr2 UTSW 12 84314009 missense possibly damaging 0.93
Posted On2015-04-16