Incidental Mutation 'IGL02033:Pgr'
ID184431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgr
Ensembl Gene ENSMUSG00000031870
Gene Nameprogesterone receptor
Synonyms9930019P03Rik, ENSMUSG00000074510, PR-A, PR-B, PR, NR3C3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.508) question?
Stock #IGL02033
Quality Score
Status
Chromosome9
Chromosomal Location8899833-8968611 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 8965110 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 753 (V753E)
Ref Sequence ENSEMBL: ENSMUSP00000096584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070463] [ENSMUST00000098986] [ENSMUST00000189181]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070463
AA Change: V918E

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: V918E

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
low complexity region 108 120 N/A INTRINSIC
low complexity region 244 265 N/A INTRINSIC
low complexity region 337 354 N/A INTRINSIC
low complexity region 418 431 N/A INTRINSIC
low complexity region 434 454 N/A INTRINSIC
low complexity region 493 503 N/A INTRINSIC
low complexity region 505 519 N/A INTRINSIC
ZnF_C4 557 628 1.29e-29 SMART
low complexity region 703 711 N/A INTRINSIC
HOLI 713 877 3.21e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098986
AA Change: V753E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: V753E

DomainStartEndE-ValueType
low complexity region 79 100 N/A INTRINSIC
low complexity region 172 189 N/A INTRINSIC
low complexity region 253 266 N/A INTRINSIC
low complexity region 269 289 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
low complexity region 340 354 N/A INTRINSIC
ZnF_C4 392 463 1.29e-29 SMART
low complexity region 538 546 N/A INTRINSIC
HOLI 548 712 3.21e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000189181
AA Change: V918E

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: V918E

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
low complexity region 108 120 N/A INTRINSIC
low complexity region 244 265 N/A INTRINSIC
low complexity region 337 354 N/A INTRINSIC
low complexity region 418 431 N/A INTRINSIC
low complexity region 434 454 N/A INTRINSIC
low complexity region 493 503 N/A INTRINSIC
low complexity region 505 519 N/A INTRINSIC
ZnF_C4 557 628 1.29e-29 SMART
low complexity region 703 711 N/A INTRINSIC
HOLI 713 877 3.21e-34 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Null female mice are sterile and exhibit ovulatory defects, uterine hyperplasia, and impaired mammary development. Females lacking only isoform A are infertile but show normal mammary development, while females lacking only isoform B are fertile but present with mammary developmental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,259,876 F107L possibly damaging Het
Adam30 G T 3: 98,161,471 V79F probably benign Het
Akap8l T C 17: 32,338,272 R122G probably damaging Het
Apc T A 18: 34,310,719 S570R probably damaging Het
BC027072 T A 17: 71,751,081 I534F probably damaging Het
Btnl10 A G 11: 58,919,315 E94G probably damaging Het
Col25a1 A T 3: 130,388,948 probably benign Het
Cubn A C 2: 13,339,846 I2208S probably damaging Het
Cyp17a1 A T 19: 46,672,607 Y79* probably null Het
Dach1 T A 14: 97,901,429 H474L possibly damaging Het
Dscaml1 A T 9: 45,683,782 I728F probably damaging Het
Erp29 G T 5: 121,452,242 S33R probably benign Het
Fat3 A C 9: 15,915,352 S4435A possibly damaging Het
Fbxw13 T C 9: 109,181,416 I385V probably damaging Het
Hspg2 T C 4: 137,552,254 M3160T probably benign Het
Lrrc28 C T 7: 67,559,857 probably null Het
Myh15 T C 16: 49,145,344 V1204A probably benign Het
Olfr1457 T C 19: 13,094,857 S91G possibly damaging Het
Pde5a G A 3: 122,803,061 E434K possibly damaging Het
Pik3c3 T A 18: 30,312,650 S563R possibly damaging Het
Ppt2 A G 17: 34,625,754 probably benign Het
Prg4 T A 1: 150,455,868 probably benign Het
Pygo1 G T 9: 72,945,401 S290I possibly damaging Het
Ralgapa1 G T 12: 55,642,477 H1946N possibly damaging Het
Rap1gds1 A G 3: 138,955,471 probably benign Het
Sema4g G A 19: 44,997,415 R256H probably damaging Het
Slc22a12 T G 19: 6,537,814 D370A probably benign Het
Spata16 G A 3: 26,913,334 probably null Het
Trim44 A G 2: 102,400,176 M170T possibly damaging Het
Trpv6 A T 6: 41,627,617 probably benign Het
Vwa8 T G 14: 78,984,209 L535R possibly damaging Het
Wdr78 G T 4: 103,066,293 N123K possibly damaging Het
Other mutations in Pgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Pgr APN 9 8903691 missense possibly damaging 0.71
IGL01772:Pgr APN 9 8946636 splice site probably benign
IGL01963:Pgr APN 9 8922668 missense probably damaging 0.97
IGL02837:Pgr APN 9 8946638 splice site probably benign
IGL03070:Pgr APN 9 8903664 missense possibly damaging 0.86
IGL03300:Pgr APN 9 8961539 missense probably damaging 1.00
R0152:Pgr UTSW 9 8965022 missense probably benign 0.45
R0305:Pgr UTSW 9 8902087 splice site probably benign
R0317:Pgr UTSW 9 8965022 missense probably benign 0.45
R0467:Pgr UTSW 9 8900778 missense possibly damaging 0.92
R1673:Pgr UTSW 9 8902068 missense possibly damaging 0.71
R1711:Pgr UTSW 9 8922714 splice site probably null
R1928:Pgr UTSW 9 8903629 nonsense probably null
R1951:Pgr UTSW 9 8946953 splice site probably benign
R2023:Pgr UTSW 9 8958398 missense probably damaging 0.99
R2426:Pgr UTSW 9 8900717 missense probably damaging 0.98
R2967:Pgr UTSW 9 8901818 missense possibly damaging 0.86
R3105:Pgr UTSW 9 8958396 missense probably benign 0.02
R3440:Pgr UTSW 9 8922629 missense probably damaging 0.98
R3735:Pgr UTSW 9 8901533 missense probably damaging 0.99
R3947:Pgr UTSW 9 8961452 missense probably benign 0.25
R4398:Pgr UTSW 9 8903749 critical splice donor site probably null
R4497:Pgr UTSW 9 8958419 missense probably damaging 0.99
R4811:Pgr UTSW 9 8900843 nonsense probably null
R4907:Pgr UTSW 9 8947043 intron probably benign
R4996:Pgr UTSW 9 8900913 missense probably damaging 0.99
R5448:Pgr UTSW 9 8922637 missense probably benign 0.06
R5449:Pgr UTSW 9 8956343 missense possibly damaging 0.95
R5699:Pgr UTSW 9 8900599 start gained probably benign
R5764:Pgr UTSW 9 8900537 missense probably benign 0.00
R6057:Pgr UTSW 9 8902005 missense probably damaging 0.98
R6134:Pgr UTSW 9 8900739 missense possibly damaging 0.51
R6242:Pgr UTSW 9 8900979 missense probably benign
R6476:Pgr UTSW 9 8964838 intron probably null
R6508:Pgr UTSW 9 8956289 missense probably damaging 1.00
R6604:Pgr UTSW 9 8946866 missense possibly damaging 0.73
R6715:Pgr UTSW 9 8964999 missense possibly damaging 0.93
X0066:Pgr UTSW 9 8900834 missense possibly damaging 0.86
Posted On2014-05-07