Incidental Mutation 'R1673:Pgr'
ID 187816
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 039709-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # R1673 (G1)
Quality Score 196
Status Not validated
Chromosome 9
Chromosomal Location 8899834-8968612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8902069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 534 (Y534F)
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: Y534F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: Y534F

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 possibly damaging
Transcript: ENSMUST00000098986
AA Change: Y369F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: Y369F

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: Y534F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: Y534F

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,165 (GRCm39) S809G probably benign Het
Ap4b1 T A 3: 103,725,161 (GRCm39) probably null Het
Aqp12 A G 1: 92,934,606 (GRCm39) Q161R possibly damaging Het
Atp8a2 A G 14: 60,028,689 (GRCm39) I926T probably benign Het
Cacna2d1 A T 5: 16,504,988 (GRCm39) N314I probably damaging Het
Cd209d A G 8: 3,927,113 (GRCm39) S81P probably damaging Het
Cdcp1 T A 9: 123,007,086 (GRCm39) K554* probably null Het
Celsr1 A G 15: 85,816,658 (GRCm39) Y1762H probably benign Het
Cklf A G 8: 104,983,983 (GRCm39) T49A possibly damaging Het
Col12a1 T G 9: 79,600,820 (GRCm39) I755L probably benign Het
Cts3 G A 13: 61,715,368 (GRCm39) Q140* probably null Het
Ddx1 A T 12: 13,294,967 (GRCm39) probably null Het
Dnah3 C A 7: 119,570,402 (GRCm39) E2262* probably null Het
Dnah5 A G 15: 28,290,294 (GRCm39) N1228S probably benign Het
Dsg1a G A 18: 20,464,561 (GRCm39) R352Q probably damaging Het
Efcab5 A G 11: 77,042,679 (GRCm39) F25L probably damaging Het
Efhd1 T A 1: 87,192,404 (GRCm39) V78D probably damaging Het
Eif5a2 T C 3: 28,847,967 (GRCm39) probably null Het
Elp2 T A 18: 24,744,983 (GRCm39) V101D possibly damaging Het
Enpp2 A T 15: 54,773,592 (GRCm39) probably null Het
F5 A G 1: 164,007,089 (GRCm39) T298A probably damaging Het
Fbxo21 G T 5: 118,146,129 (GRCm39) R584L probably benign Het
Fbxw22 G T 9: 109,211,196 (GRCm39) F368L possibly damaging Het
Gcn1 T C 5: 115,720,356 (GRCm39) I409T probably benign Het
Gm12887 T C 4: 121,473,655 (GRCm39) Y65C probably damaging Het
Gria4 G A 9: 4,537,637 (GRCm39) Q224* probably null Het
Hdac5 C T 11: 102,089,631 (GRCm39) V860M probably damaging Het
Ino80 G A 2: 119,212,417 (GRCm39) R1302C probably damaging Het
Kcns2 A T 15: 34,838,966 (GRCm39) I110F probably damaging Het
Lrig3 A G 10: 125,846,036 (GRCm39) T822A probably damaging Het
Mapk6 T C 9: 75,302,851 (GRCm39) D214G probably damaging Het
Mcm2 A T 6: 88,869,060 (GRCm39) L264Q probably benign Het
Mpnd A T 17: 56,317,455 (GRCm39) Y64F probably damaging Het
Muc1 T A 3: 89,139,079 (GRCm39) M520K possibly damaging Het
Muc4 T A 16: 32,577,276 (GRCm39) S189T probably benign Het
Myh13 T C 11: 67,242,945 (GRCm39) S953P possibly damaging Het
Ncf2 A T 1: 152,706,230 (GRCm39) M281L probably benign Het
Nipal2 A G 15: 34,648,841 (GRCm39) I116T probably damaging Het
Nptn T C 9: 58,531,015 (GRCm39) L46P probably benign Het
Or2b6 A T 13: 21,823,214 (GRCm39) S160T probably damaging Het
Or4k77 A G 2: 111,199,552 (GRCm39) T192A probably benign Het
Or51ag1 C A 7: 103,155,896 (GRCm39) V86F probably damaging Het
Or5ae1 T A 7: 84,565,325 (GRCm39) F113I probably damaging Het
Pip4k2a A T 2: 18,877,093 (GRCm39) probably null Het
Pkd1l2 C G 8: 117,767,514 (GRCm39) V1259L probably benign Het
Ppp1r12a A G 10: 108,085,426 (GRCm39) E457G probably damaging Het
Rasa4 T A 5: 136,133,491 (GRCm39) V650D probably benign Het
Rem2 C T 14: 54,713,766 (GRCm39) probably benign Het
Rps18-ps6 A T 13: 97,896,868 (GRCm39) Y77N possibly damaging Het
Sdc1 G A 12: 8,840,409 (GRCm39) R62Q possibly damaging Het
Sdk1 A G 5: 141,934,261 (GRCm39) E366G possibly damaging Het
Setd2 T A 9: 110,433,248 (GRCm39) H2406Q probably damaging Het
Slc30a5 A G 13: 100,949,891 (GRCm39) V397A probably benign Het
Slc36a2 A T 11: 55,075,739 (GRCm39) L16H possibly damaging Het
Slc44a1 T C 4: 53,542,468 (GRCm39) V334A probably benign Het
Sox8 A T 17: 25,786,456 (GRCm39) Y416N possibly damaging Het
Speg T C 1: 75,387,807 (GRCm39) V1416A possibly damaging Het
Stimate T C 14: 30,586,391 (GRCm39) L72S possibly damaging Het
Stk24 T A 14: 121,574,983 (GRCm39) I42F probably damaging Het
Tasor2 A G 13: 3,634,498 (GRCm39) probably null Het
Tcerg1 T A 18: 42,685,646 (GRCm39) L661Q possibly damaging Het
Tpp1 G A 7: 105,396,880 (GRCm39) R417W probably damaging Het
Trim12a T A 7: 103,955,264 (GRCm39) D153V possibly damaging Het
Trpm2 T C 10: 77,778,778 (GRCm39) N396S probably benign Het
Ttn T C 2: 76,637,427 (GRCm39) K5695R probably damaging Het
Ttn G A 2: 76,640,631 (GRCm39) R11960C probably damaging Het
Tulp3 A C 6: 128,310,906 (GRCm39) probably null Het
Uaca T A 9: 60,779,438 (GRCm39) L1273H probably damaging Het
Usp33 A G 3: 152,073,919 (GRCm39) E255G probably damaging Het
Vmn2r54 T G 7: 12,350,138 (GRCm39) probably null Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Wnt5b A T 6: 119,423,315 (GRCm39) F116L probably benign Het
Zbtb12 CTTCAT CTTCATTCAT 17: 35,115,284 (GRCm39) probably null Het
Zbtb12 TCATC TCATCCATC 17: 35,115,286 (GRCm39) probably null Het
Zfp408 G A 2: 91,476,353 (GRCm39) T367I probably damaging Het
Zfp512b G A 2: 181,230,286 (GRCm39) A480V possibly damaging Het
Zfp560 T C 9: 20,258,949 (GRCm39) T638A probably benign Het
Zfp932 G T 5: 110,156,854 (GRCm39) G151V probably damaging Het
Zpbp T C 11: 11,302,696 (GRCm39) K320E probably damaging Het
Zranb2 C T 3: 157,243,277 (GRCm39) P91L 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
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
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'- AGTGCATCCTGTACAAAGCGGAGG -3'
(R):5'- GTTCTGAAGCCACAGTTAAGCCCC -3'

Sequencing Primer
(F):5'- CCACGCAGGGTTCGTTC -3'
(R):5'- Aacacacacacacacacacac -3'
Posted On 2014-05-09