Incidental Mutation 'R3947:Pgr'
ID 307756
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 040927-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # R3947 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 8899834-8968612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8961453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 842 (I842V)
Ref Sequence ENSEMBL: ENSMUSP00000140124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070463] [ENSMUST00000098986] [ENSMUST00000189181]
AlphaFold Q00175
Predicted Effect probably benign
Transcript: ENSMUST00000070463
AA Change: I842V

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: I842V

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
AA Change: I677V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: I677V

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 probably benign
Transcript: ENSMUST00000189181
AA Change: I842V

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: I842V

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (32/33)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T A 14: 54,916,790 (GRCm39) Q133L possibly damaging Het
Adgrg4 C T X: 55,963,114 (GRCm39) T1561I probably benign Het
Avl9 T C 6: 56,705,650 (GRCm39) probably null Het
C87436 T A 6: 86,423,168 (GRCm39) H247Q probably damaging Het
Cfap43 G T 19: 47,754,418 (GRCm39) H969N probably benign Het
Chst15 T A 7: 131,849,604 (GRCm39) N446Y probably damaging Het
Col4a3 T A 1: 82,693,053 (GRCm39) I1446N probably damaging Het
Disc1 A G 8: 125,814,874 (GRCm39) E246G probably damaging Het
Dyrk4 A G 6: 126,862,268 (GRCm39) I408T probably damaging Het
Fnbp1l G T 3: 122,338,228 (GRCm39) A481D possibly damaging Het
Gm10608 TACACACACACACACACACACACACACACACACACACACACACACACACACACACA TACACACACACACACACACACACACACACACACACACACACACACACACA 9: 118,989,730 (GRCm39) probably benign Het
Grk2 G A 19: 4,342,445 (GRCm39) T129M possibly damaging Het
Ino80d G T 1: 63,113,662 (GRCm39) Q263K probably benign Het
Iqsec3 A T 6: 121,364,783 (GRCm39) Y835* probably null Het
Irak3 T A 10: 120,006,278 (GRCm39) M213L probably benign Het
Macf1 T C 4: 123,274,213 (GRCm39) R6388G probably damaging Het
Mtnr1a T C 8: 45,540,557 (GRCm39) Y173H probably damaging Het
Myo5b C T 18: 74,828,474 (GRCm39) R709W probably damaging Het
Nebl A T 2: 17,382,917 (GRCm39) probably null Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or2g1 A T 17: 38,107,006 (GRCm39) I224L probably benign Het
Pex11g G A 8: 3,515,787 (GRCm39) T82I probably benign Het
Pkd1 T A 17: 24,797,011 (GRCm39) probably benign Het
Rbm20 T C 19: 53,801,768 (GRCm39) I92T probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Ssh2 A G 11: 77,289,082 (GRCm39) D88G probably damaging Het
Suclg2 G T 6: 95,556,219 (GRCm39) probably null Het
Tdrd3 A T 14: 87,744,035 (GRCm39) D655V probably damaging Het
Tex2 C T 11: 106,410,829 (GRCm39) D896N unknown Het
Tmem168 C A 6: 13,583,051 (GRCm39) R610L probably damaging Het
Ttc17 A G 2: 94,206,491 (GRCm39) probably benign Het
Vmn2r99 T C 17: 19,599,252 (GRCm39) M312T probably benign Het
Wdfy3 T C 5: 102,017,902 (GRCm39) E2546G probably damaging 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
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
R6134:Pgr UTSW 9 8,900,740 (GRCm39) missense possibly damaging 0.51
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'- CAAGACCTCTTTGGAGCAAATGC -3'
(R):5'- TTATAACAGTTGCCGTGGTCATGG -3'

Sequencing Primer
(F):5'- AAAAGTCTGAAATGTAAGTTGTTCAC -3'
(R):5'- TCATGGTGCCCCCTCACAG -3'
Posted On 2015-04-17