Incidental Mutation 'R8725:Pgr'
ID 662360
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 068574-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # R8725 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 8899834-8968612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 8901544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 359 (P359Q)
Ref Sequence ENSEMBL: ENSMUSP00000063562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070463] [ENSMUST00000098986] [ENSMUST00000189181]
AlphaFold Q00175
Predicted Effect probably damaging
Transcript: ENSMUST00000070463
AA Change: P359Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: P359Q

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: P194Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: P194Q

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 damaging
Transcript: ENSMUST00000189181
AA Change: P359Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: P359Q

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik C T 16: 97,867,651 (GRCm39) A104T probably damaging Het
Abhd18 T A 3: 40,884,627 (GRCm39) L222Q probably damaging Het
Adam30 C T 3: 98,070,348 (GRCm39) T727M possibly damaging Het
Adh6b A T 3: 138,058,729 (GRCm39) Q137L probably damaging Het
Alpl C T 4: 137,475,127 (GRCm39) V269I probably benign Het
Ang2 C T 14: 51,432,996 (GRCm39) G129S probably benign Het
Atp6v0a1 A T 11: 100,920,015 (GRCm39) H216L possibly damaging Het
BC030500 C T 8: 59,366,049 (GRCm39) T61I unknown Het
Brpf1 T G 6: 113,293,491 (GRCm39) L520R probably damaging Het
Btbd10 A G 7: 112,927,626 (GRCm39) I243T possibly damaging Het
Bub1 C A 2: 127,646,139 (GRCm39) C947F probably damaging Het
C4b T C 17: 34,953,459 (GRCm39) E1008G probably damaging Het
Ccdc40 A G 11: 119,155,323 (GRCm39) T1188A probably benign Het
Cdcp3 A G 7: 130,875,485 (GRCm39) T1770A unknown Het
Cnn1 G T 9: 22,010,557 (GRCm39) probably benign Het
Colgalt2 T C 1: 152,360,662 (GRCm39) M233T probably damaging Het
Cox15 A T 19: 43,735,181 (GRCm39) C195* probably null Het
Cped1 A T 6: 22,059,941 (GRCm39) R202S possibly damaging Het
Dact2 A T 17: 14,417,146 (GRCm39) C351* probably null Het
Dbnl A G 11: 5,738,582 (GRCm39) N8S probably benign Het
Depdc1a T A 3: 159,228,356 (GRCm39) N369K probably benign Het
Dnah2 A T 11: 69,415,005 (GRCm39) L243Q probably damaging Het
Dscaml1 T A 9: 45,341,759 (GRCm39) Y57N probably benign Het
Eif2b3 A G 4: 116,927,944 (GRCm39) T388A probably benign Het
Eif4h A C 5: 134,654,393 (GRCm39) probably null Het
Elf1 C T 14: 79,810,667 (GRCm39) Q288* probably null Het
Fgl2 C T 5: 21,580,677 (GRCm39) R340* probably null Het
Fut4 T C 9: 14,662,082 (GRCm39) D404G probably damaging Het
Glmn G A 5: 107,718,152 (GRCm39) P255L probably benign Het
Gm14322 C T 2: 177,411,481 (GRCm39) T97I probably benign Het
Gm44511 C A 6: 128,797,997 (GRCm39) C32F probably damaging Het
Gm5478 A G 15: 101,553,871 (GRCm39) F247S probably damaging Het
Golgb1 T A 16: 36,739,563 (GRCm39) M2675K probably damaging Het
Hectd1 T C 12: 51,849,000 (GRCm39) D368G possibly damaging Het
Hnrnpul2 A G 19: 8,798,064 (GRCm39) N140S probably benign Het
Htr4 A T 18: 62,561,209 (GRCm39) I157L probably damaging Het
Kcnma1 T G 14: 23,436,332 (GRCm39) M790L probably benign Het
Kcnv1 G A 15: 44,977,999 (GRCm39) S13L unknown Het
Kctd20 C T 17: 29,184,025 (GRCm39) R312* probably null Het
Kdm3b T A 18: 34,960,435 (GRCm39) I1340N probably damaging Het
Kdm6b A G 11: 69,292,919 (GRCm39) F1286L unknown Het
Knl1 T A 2: 118,899,524 (GRCm39) F408L probably benign Het
Lypd5 G T 7: 24,053,101 (GRCm39) G253W probably damaging Het
Mea1 A G 17: 46,992,614 (GRCm39) T21A probably benign Het
Metrnl A G 11: 121,606,842 (GRCm39) E299G possibly damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nbn G A 4: 15,963,911 (GRCm39) S104N probably damaging Het
Nxpe2 A T 9: 48,238,073 (GRCm39) F61I probably benign Het
Or6c1b T C 10: 129,273,334 (GRCm39) Y218H probably benign Het
Or6c70 T A 10: 129,710,092 (GRCm39) D178V probably damaging Het
Pi4k2b G A 5: 52,908,031 (GRCm39) V157I probably benign Het
Plekhm1 A C 11: 103,258,444 (GRCm39) F1031L probably damaging Het
Pltp A G 2: 164,696,301 (GRCm39) S124P probably damaging Het
Polr3gl T A 3: 96,487,154 (GRCm39) E177V probably benign Het
Pstk G T 7: 130,973,024 (GRCm39) R41L possibly damaging Het
Rasgrp1 T C 2: 117,119,158 (GRCm39) E493G probably benign Het
Rtn3 A G 19: 7,434,726 (GRCm39) L422P probably benign Het
Rusc2 C T 4: 43,401,351 (GRCm39) probably benign Het
Sbno2 A G 10: 79,911,090 (GRCm39) F6S probably benign Het
Sh2d4a A G 8: 68,798,695 (GRCm39) Y348C probably damaging Het
Sh3rf3 A G 10: 58,939,992 (GRCm39) probably null Het
Sipa1l2 T C 8: 126,177,125 (GRCm39) E1163G probably benign Het
Strip1 G C 3: 107,521,964 (GRCm39) A738G probably damaging Het
Tdrkh C T 3: 94,333,299 (GRCm39) R255C probably benign Het
Tln1 A T 4: 43,555,911 (GRCm39) M101K possibly damaging Het
Trav6-2 A C 14: 52,905,028 (GRCm39) probably benign Het
Tspan11 A T 6: 127,900,674 (GRCm39) I82F possibly damaging Het
Ttn T C 2: 76,779,320 (GRCm39) K1233E unknown Het
Usp29 A T 7: 6,965,917 (GRCm39) S587C probably damaging Het
Vmn1r235 A T 17: 21,482,056 (GRCm39) Q127L probably damaging Het
Vmn1r65 C A 7: 6,011,503 (GRCm39) A244S probably damaging Het
Vmn2r18 A G 5: 151,508,462 (GRCm39) S221P probably damaging Het
Zfp229 T C 17: 21,964,828 (GRCm39) S353P probably damaging Het
Zpld2 T C 4: 133,930,150 (GRCm39) K52E 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
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
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'- GAGCAAGACTCTCCCATTGC -3'
(R):5'- GCTTTGTACAGGATGCACTCC -3'

Sequencing Primer
(F):5'- CACTGGCCACCACAGTG -3'
(R):5'- TGCCAGCGGGAAGTCTG -3'
Posted On 2021-03-08