Incidental Mutation 'R6134:Pgr'
ID 487284
Institutional Source Beutler Lab
Gene Symbol Pgr
Ensembl Gene ENSMUSG00000031870
Gene Name progesterone receptor
Synonyms NR3C3, 9930019P03Rik, PR-A, PR, ENSMUSG00000074510, PR-B
MMRRC Submission 044281-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # R6134 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 8899834-8968612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8900740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 91 (V91A)
Ref Sequence ENSEMBL: ENSMUSP00000140124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070463] [ENSMUST00000098986] [ENSMUST00000189181]
AlphaFold Q00175
Predicted Effect possibly damaging
Transcript: ENSMUST00000070463
AA Change: V91A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: V91A

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 benign
Transcript: ENSMUST00000098986
SMART Domains Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870

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 noncoding transcript
Transcript: ENSMUST00000151080
Predicted Effect possibly damaging
Transcript: ENSMUST00000189181
AA Change: V91A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: V91A

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 94% (51/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,767,619 (GRCm39) E39K probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aktip T A 8: 91,856,388 (GRCm39) S30C probably damaging Het
Anxa10 G T 8: 62,530,977 (GRCm39) H78N probably damaging Het
Aoah C T 13: 21,095,293 (GRCm39) R196W probably damaging Het
Arl4c A T 1: 88,629,152 (GRCm39) W79R probably damaging Het
Brd2 A T 17: 34,332,669 (GRCm39) D178E probably benign Het
Cacna1e G A 1: 154,577,037 (GRCm39) P120L probably damaging Het
Cdh16 A T 8: 105,342,697 (GRCm39) M17K probably benign Het
Cdhr17 A T 5: 17,029,683 (GRCm39) D473V probably damaging Het
Chit1 A G 1: 134,071,798 (GRCm39) T103A possibly damaging Het
Clcn3 T C 8: 61,387,607 (GRCm39) Y214C probably damaging Het
Coch T A 12: 51,649,536 (GRCm39) D282E probably damaging Het
Col1a2 C A 6: 4,538,035 (GRCm39) S1181R unknown Het
Col6a2 T C 10: 76,442,978 (GRCm39) D506G probably damaging Het
Crx A T 7: 15,602,032 (GRCm39) Y215* probably null Het
Fasn A T 11: 120,713,012 (GRCm39) S58T probably benign Het
Fhip1a T C 3: 85,580,651 (GRCm39) E518G possibly damaging Het
Garem1 A T 18: 21,262,881 (GRCm39) D644E probably benign Het
H2-Q2 A C 17: 35,562,217 (GRCm39) T155P probably damaging Het
Insr A T 8: 3,242,572 (GRCm39) I49N probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lnpep A G 17: 17,773,454 (GRCm39) M639T probably benign Het
Lypd11 G A 7: 24,425,481 (GRCm39) A3V probably damaging Het
Map3k20 C T 2: 72,240,503 (GRCm39) S333F probably damaging Het
Miga2 A G 2: 30,261,229 (GRCm39) S175G probably benign Het
Muc3a A T 5: 137,244,579 (GRCm39) I191N probably damaging Het
Ncoa2 A G 1: 13,244,595 (GRCm39) V701A probably damaging Het
Nid2 T C 14: 19,828,851 (GRCm39) V565A probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Numbl G C 7: 26,980,739 (GRCm39) A574P probably damaging Het
Oas3 A G 5: 120,907,113 (GRCm39) V508A unknown Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pcdhb21 T A 18: 37,647,461 (GRCm39) S197T probably benign Het
Pck2 T A 14: 55,781,419 (GRCm39) M180K probably damaging Het
Phtf1 A T 3: 103,911,721 (GRCm39) M643L probably damaging Het
Prokr1 T C 6: 87,565,837 (GRCm39) T3A possibly damaging Het
Ptgs1 T C 2: 36,141,190 (GRCm39) Y546H probably damaging Het
Rasa1 A G 13: 85,374,745 (GRCm39) L742P probably benign Het
Rbbp6 T C 7: 122,596,534 (GRCm39) probably null Het
Rgs22 A G 15: 36,107,194 (GRCm39) L64P probably damaging Het
Rnf213 A T 11: 119,302,296 (GRCm39) I407F probably damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Scin G A 12: 40,110,578 (GRCm39) P690L probably damaging Het
Septin9 T C 11: 117,242,987 (GRCm39) L58P probably damaging Het
Slc1a7 A G 4: 107,869,633 (GRCm39) E566G probably damaging Het
Speer4f1 G A 5: 17,681,140 (GRCm39) R6Q probably benign Het
Tnxb A T 17: 34,890,986 (GRCm39) Y443F probably damaging Het
Trpv1 A G 11: 73,135,143 (GRCm39) I79V probably benign Het
Ttll6 C T 11: 96,030,568 (GRCm39) T245I possibly damaging Het
Vmn2r26 T C 6: 124,038,444 (GRCm39) I673T probably damaging Het
Zfp60 T C 7: 27,449,323 (GRCm39) F664L probably benign Het
Other mutations in Pgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Pgr APN 9 8,903,692 (GRCm39) missense possibly damaging 0.71
IGL01772:Pgr APN 9 8,946,637 (GRCm39) splice site probably benign
IGL01963:Pgr APN 9 8,922,669 (GRCm39) missense probably damaging 0.97
IGL02033:Pgr APN 9 8,965,111 (GRCm39) missense probably damaging 1.00
IGL02837:Pgr APN 9 8,946,639 (GRCm39) splice site probably benign
IGL03070:Pgr APN 9 8,903,665 (GRCm39) missense possibly damaging 0.86
IGL03300:Pgr APN 9 8,961,540 (GRCm39) missense probably damaging 1.00
R0152:Pgr UTSW 9 8,965,023 (GRCm39) missense probably benign 0.45
R0305:Pgr UTSW 9 8,902,088 (GRCm39) splice site probably benign
R0317:Pgr UTSW 9 8,965,023 (GRCm39) missense probably benign 0.45
R0467:Pgr UTSW 9 8,900,779 (GRCm39) missense possibly damaging 0.92
R1673:Pgr UTSW 9 8,902,069 (GRCm39) missense possibly damaging 0.71
R1711:Pgr UTSW 9 8,922,715 (GRCm39) splice site probably null
R1928:Pgr UTSW 9 8,903,630 (GRCm39) nonsense probably null
R1951:Pgr UTSW 9 8,946,954 (GRCm39) splice site probably benign
R2023:Pgr UTSW 9 8,958,399 (GRCm39) missense probably damaging 0.99
R2426:Pgr UTSW 9 8,900,718 (GRCm39) missense probably damaging 0.98
R2967:Pgr UTSW 9 8,901,819 (GRCm39) missense possibly damaging 0.86
R3105:Pgr UTSW 9 8,958,397 (GRCm39) missense probably benign 0.02
R3440:Pgr UTSW 9 8,922,630 (GRCm39) missense probably damaging 0.98
R3735:Pgr UTSW 9 8,901,534 (GRCm39) missense probably damaging 0.99
R3947:Pgr UTSW 9 8,961,453 (GRCm39) missense probably benign 0.25
R4398:Pgr UTSW 9 8,903,750 (GRCm39) critical splice donor site probably null
R4497:Pgr UTSW 9 8,958,420 (GRCm39) missense probably damaging 0.99
R4811:Pgr UTSW 9 8,900,844 (GRCm39) nonsense probably null
R4907:Pgr UTSW 9 8,947,044 (GRCm39) intron probably benign
R4996:Pgr UTSW 9 8,900,914 (GRCm39) missense probably damaging 0.99
R5448:Pgr UTSW 9 8,922,638 (GRCm39) missense probably benign 0.06
R5449:Pgr UTSW 9 8,956,344 (GRCm39) missense possibly damaging 0.95
R5699:Pgr UTSW 9 8,900,600 (GRCm39) start gained probably benign
R5764:Pgr UTSW 9 8,900,538 (GRCm39) missense probably benign 0.00
R6057:Pgr UTSW 9 8,902,006 (GRCm39) missense probably damaging 0.98
R6242:Pgr UTSW 9 8,900,980 (GRCm39) missense probably benign
R6476:Pgr UTSW 9 8,964,839 (GRCm39) splice site probably null
R6508:Pgr UTSW 9 8,956,290 (GRCm39) missense probably damaging 1.00
R6604:Pgr UTSW 9 8,946,867 (GRCm39) missense possibly damaging 0.73
R6715:Pgr UTSW 9 8,965,000 (GRCm39) missense possibly damaging 0.93
R7444:Pgr UTSW 9 8,946,883 (GRCm39) missense probably damaging 1.00
R7769:Pgr UTSW 9 8,946,856 (GRCm39) missense possibly damaging 0.88
R7899:Pgr UTSW 9 8,903,743 (GRCm39) missense probably benign 0.11
R8139:Pgr UTSW 9 8,956,341 (GRCm39) missense possibly damaging 0.61
R8198:Pgr UTSW 9 8,958,411 (GRCm39) missense possibly damaging 0.84
R8348:Pgr UTSW 9 8,922,602 (GRCm39) missense probably benign 0.32
R8713:Pgr UTSW 9 8,900,818 (GRCm39) missense possibly damaging 0.92
R8725:Pgr UTSW 9 8,901,544 (GRCm39) missense probably damaging 0.99
R8727:Pgr UTSW 9 8,901,544 (GRCm39) missense probably damaging 0.99
R8748:Pgr UTSW 9 8,958,449 (GRCm39) missense probably benign 0.19
R9518:Pgr UTSW 9 8,922,645 (GRCm39) missense probably damaging 0.99
R9542:Pgr UTSW 9 8,901,532 (GRCm39) missense possibly damaging 0.86
R9631:Pgr UTSW 9 8,900,847 (GRCm39) missense probably benign 0.32
R9639:Pgr UTSW 9 8,900,994 (GRCm39) missense possibly damaging 0.95
R9750:Pgr UTSW 9 8,901,918 (GRCm39) missense possibly damaging 0.86
X0066:Pgr UTSW 9 8,900,835 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TTGCTTGCACGCTTGGACTC -3'
(R):5'- TGATCTCTGGCCGACTCATGAG -3'

Sequencing Primer
(F):5'- ACTCAGGTCCCTTCCAAGG -3'
(R):5'- CGGGGACAACAACCCTTTG -3'
Posted On 2017-10-10