Incidental Mutation 'R8348:Pgr'
ID |
660441 |
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 |
067732-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.460)
|
Stock # |
R8348 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
8899834-8968612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 8922602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 591
(Q591K)
|
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: Q591K
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000063562 Gene: ENSMUSG00000031870 AA Change: Q591K
Domain | Start | End | E-Value | Type |
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: Q426K
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000096584 Gene: ENSMUSG00000031870 AA Change: Q426K
Domain | Start | End | E-Value | Type |
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: Q591K
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140124 Gene: ENSMUSG00000031870 AA Change: Q591K
Domain | Start | End | E-Value | Type |
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: 99.4%
|
Validation Efficiency |
100% (59/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C10Rik |
A |
G |
7: 37,894,384 (GRCm39) |
Y139C |
possibly damaging |
Het |
A430033K04Rik |
A |
G |
5: 138,634,514 (GRCm39) |
D43G |
probably damaging |
Het |
Actn3 |
C |
A |
19: 4,915,361 (GRCm39) |
V464L |
possibly damaging |
Het |
Adamts15 |
C |
T |
9: 30,813,846 (GRCm39) |
R773Q |
probably benign |
Het |
Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
Arhgef28 |
G |
T |
13: 98,190,375 (GRCm39) |
P195T |
possibly damaging |
Het |
Axdnd1 |
A |
T |
1: 156,245,854 (GRCm39) |
D107E |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,167,507 (GRCm39) |
V1828M |
probably benign |
Het |
Cep95 |
A |
G |
11: 106,704,593 (GRCm39) |
T440A |
possibly damaging |
Het |
Ctdp1 |
G |
A |
18: 80,493,325 (GRCm39) |
A390V |
probably benign |
Het |
Desi2 |
T |
A |
1: 178,083,906 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,320,273 (GRCm39) |
M3932K |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,955,121 (GRCm39) |
Q2050L |
probably damaging |
Het |
Etnppl |
T |
A |
3: 130,423,141 (GRCm39) |
M274K |
probably benign |
Het |
Farp2 |
G |
T |
1: 93,504,614 (GRCm39) |
|
probably null |
Het |
Fbxo46 |
G |
A |
7: 18,870,469 (GRCm39) |
G363R |
probably damaging |
Het |
Fiz1 |
A |
G |
7: 5,015,909 (GRCm39) |
V27A |
probably benign |
Het |
Fndc3b |
T |
A |
3: 27,494,144 (GRCm39) |
M994L |
probably benign |
Het |
G3bp1 |
T |
G |
11: 55,389,457 (GRCm39) |
D384E |
possibly damaging |
Het |
Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
Gle1 |
T |
C |
2: 29,832,556 (GRCm39) |
Y304H |
possibly damaging |
Het |
Gm3415 |
G |
A |
5: 146,493,407 (GRCm39) |
R84H |
probably benign |
Het |
Gm7694 |
A |
C |
1: 170,129,209 (GRCm39) |
S107A |
possibly damaging |
Het |
Gpc6 |
A |
G |
14: 117,673,232 (GRCm39) |
D163G |
probably damaging |
Het |
Gtpbp6 |
G |
A |
5: 110,251,892 (GRCm39) |
H514Y |
possibly damaging |
Het |
Hdgfl2 |
A |
G |
17: 56,406,370 (GRCm39) |
E595G |
possibly damaging |
Het |
Hoxc11 |
G |
A |
15: 102,863,186 (GRCm39) |
G76S |
possibly damaging |
Het |
Hoxc4 |
T |
C |
15: 102,943,440 (GRCm39) |
C98R |
possibly damaging |
Het |
Hydin |
A |
T |
8: 111,329,878 (GRCm39) |
I4871F |
possibly damaging |
Het |
Ifnar1 |
A |
G |
16: 91,292,187 (GRCm39) |
D176G |
probably benign |
Het |
Inafm1 |
A |
G |
7: 16,007,055 (GRCm39) |
I54T |
probably damaging |
Het |
Inpp5b |
G |
A |
4: 124,678,967 (GRCm39) |
G458D |
probably damaging |
Het |
Irs2 |
A |
T |
8: 11,054,974 (GRCm39) |
S1153T |
probably damaging |
Het |
Kcnj15 |
A |
G |
16: 95,096,609 (GRCm39) |
Y77C |
probably damaging |
Het |
Klhl35 |
C |
A |
7: 99,121,062 (GRCm39) |
D10E |
probably damaging |
Het |
Lef1 |
A |
T |
3: 130,906,461 (GRCm39) |
M1L |
probably benign |
Het |
Lima1 |
T |
C |
15: 99,678,753 (GRCm39) |
T403A |
probably benign |
Het |
Magi3 |
T |
A |
3: 103,958,531 (GRCm39) |
N518I |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,836,974 (GRCm39) |
C269R |
probably damaging |
Het |
Mis18a |
A |
T |
16: 90,523,919 (GRCm39) |
L81* |
probably null |
Het |
Mug2 |
A |
T |
6: 122,049,192 (GRCm39) |
K903* |
probably null |
Het |
Nhsl3 |
G |
A |
4: 129,117,699 (GRCm39) |
R322C |
probably damaging |
Het |
Pex6 |
T |
C |
17: 47,034,039 (GRCm39) |
S656P |
probably benign |
Het |
Phactr3 |
T |
C |
2: 177,897,935 (GRCm39) |
S50P |
probably benign |
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Sipa1l1 |
T |
A |
12: 82,443,045 (GRCm39) |
N778K |
probably benign |
Het |
Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
Slc5a7 |
A |
G |
17: 54,583,655 (GRCm39) |
V545A |
possibly damaging |
Het |
Snf8 |
A |
G |
11: 95,925,877 (GRCm39) |
K13R |
probably benign |
Het |
St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
Tacc2 |
A |
C |
7: 130,225,019 (GRCm39) |
K568T |
possibly damaging |
Het |
Tnxb |
C |
A |
17: 34,929,102 (GRCm39) |
T2715K |
possibly damaging |
Het |
Vegfb |
T |
C |
19: 6,962,856 (GRCm39) |
I140V |
probably benign |
Het |
Vmn2r89 |
A |
C |
14: 51,692,548 (GRCm39) |
D117A |
possibly damaging |
Het |
Vps13c |
C |
T |
9: 67,786,385 (GRCm39) |
T284I |
possibly damaging |
Het |
Wnk1 |
T |
C |
6: 119,906,960 (GRCm39) |
|
probably null |
Het |
Wscd2 |
T |
A |
5: 113,710,371 (GRCm39) |
H298Q |
possibly damaging |
Het |
Zfp69 |
A |
T |
4: 120,787,834 (GRCm39) |
C494S |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,949,361 (GRCm39) |
T200A |
possibly damaging |
Het |
|
Other mutations in Pgr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- GGACTACCCAGCTCTTTACCTG -3'
(R):5'- CTCAGTGTTATAGTAAAGTGCAAGCC -3'
Sequencing Primer
(F):5'- AGCACTCACTATTATCTCATTCAGAC -3'
(R):5'- GTGCAAGCCACACTATACTATTG -3'
|
Posted On |
2021-01-18 |