Incidental Mutation 'R5699:Pgr'
| ID |
446576 |
| 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 |
043327-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R5699 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
8899834-8968612 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 8900600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070463]
[ENSMUST00000098986]
[ENSMUST00000189181]
|
| AlphaFold |
Q00175 |
| Predicted Effect |
silent
Transcript: ENSMUST00000070463
|
| SMART Domains |
Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
| 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
|
| SMART Domains |
Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
| 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 |
noncoding transcript
Transcript: ENSMUST00000151080
|
| Predicted Effect |
silent
Transcript: ENSMUST00000189181
|
| SMART Domains |
Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
A |
G |
9: 8,225,320 (GRCm39) |
|
noncoding transcript |
Het |
| 4930486L24Rik |
A |
G |
13: 61,001,410 (GRCm39) |
F106L |
possibly damaging |
Het |
| Adam11 |
A |
T |
11: 102,664,466 (GRCm39) |
M385L |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,788,007 (GRCm39) |
P925S |
probably benign |
Het |
| Adh7 |
G |
A |
3: 137,932,087 (GRCm39) |
A234T |
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,849,703 (GRCm39) |
E475G |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,385 (GRCm39) |
V254A |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,715,749 (GRCm39) |
Y89C |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,057,728 (GRCm39) |
K100R |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,361,175 (GRCm39) |
I721T |
probably damaging |
Het |
| Cdh2 |
G |
A |
18: 16,779,579 (GRCm39) |
Q161* |
probably null |
Het |
| Clk1 |
T |
C |
1: 58,459,354 (GRCm39) |
K135R |
probably damaging |
Het |
| Col5a1 |
G |
A |
2: 27,887,611 (GRCm39) |
G961R |
unknown |
Het |
| Cpt1b |
T |
A |
15: 89,308,476 (GRCm39) |
I151F |
probably benign |
Het |
| Cyp51 |
A |
G |
5: 4,151,213 (GRCm39) |
F139L |
probably damaging |
Het |
| Disp1 |
TTGA |
T |
1: 182,870,119 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 31,029,298 (GRCm39) |
I4089T |
probably benign |
Het |
| Dnali1 |
C |
T |
4: 124,952,843 (GRCm39) |
V227M |
possibly damaging |
Het |
| Eml4 |
T |
G |
17: 83,717,514 (GRCm39) |
S29A |
probably benign |
Het |
| Eps8l3 |
C |
A |
3: 107,786,895 (GRCm39) |
P24T |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,478,446 (GRCm39) |
|
probably null |
Het |
| Firrm |
A |
T |
1: 163,785,120 (GRCm39) |
V753D |
probably benign |
Het |
| Grid2 |
G |
A |
6: 63,885,975 (GRCm39) |
A124T |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,204,204 (GRCm39) |
|
probably null |
Het |
| Kyat1 |
G |
A |
2: 30,076,662 (GRCm39) |
A284V |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmbrd2 |
G |
T |
15: 9,175,269 (GRCm39) |
L393F |
probably benign |
Het |
| Lrrc26 |
T |
A |
2: 25,180,536 (GRCm39) |
L179Q |
probably damaging |
Het |
| Mlx |
A |
G |
11: 100,979,520 (GRCm39) |
D113G |
possibly damaging |
Het |
| Myod1 |
A |
G |
7: 46,026,407 (GRCm39) |
K104R |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,429,602 (GRCm39) |
|
probably null |
Het |
| Or56b2j |
T |
G |
7: 104,353,200 (GRCm39) |
V142G |
probably damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,336 (GRCm39) |
M1V |
probably null |
Het |
| Or6c3 |
A |
C |
10: 129,308,746 (GRCm39) |
N62H |
probably damaging |
Het |
| Pacsin3 |
A |
T |
2: 91,093,126 (GRCm39) |
Y206F |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,864,970 (GRCm39) |
V255E |
probably damaging |
Het |
| Pdp1 |
T |
C |
4: 11,960,907 (GRCm39) |
D468G |
possibly damaging |
Het |
| Prrt2 |
T |
A |
7: 126,617,899 (GRCm39) |
Y345F |
probably benign |
Het |
| Rbbp8nl |
T |
C |
2: 179,920,461 (GRCm39) |
T515A |
probably damaging |
Het |
| Rc3h1 |
G |
T |
1: 160,757,823 (GRCm39) |
R47L |
probably damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,697,281 (GRCm39) |
I107F |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,801 (GRCm39) |
F754S |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,337,608 (GRCm39) |
T630A |
possibly damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slco1a5 |
C |
A |
6: 142,194,542 (GRCm39) |
C367F |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,613,959 (GRCm39) |
|
probably null |
Het |
| Slit2 |
G |
A |
5: 48,378,333 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
| Stk16 |
T |
A |
1: 75,190,248 (GRCm39) |
M111K |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,616,298 (GRCm39) |
I477V |
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,570,974 (GRCm39) |
E199D |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,424,407 (GRCm39) |
D459E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,541,881 (GRCm39) |
R25375G |
possibly damaging |
Het |
| Tubgcp2 |
A |
T |
7: 139,578,701 (GRCm39) |
M757K |
possibly damaging |
Het |
| Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
| Ubqln5 |
A |
G |
7: 103,778,632 (GRCm39) |
V64A |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,709,204 (GRCm39) |
M1337V |
probably benign |
Het |
| Vmn1r201 |
T |
A |
13: 22,659,409 (GRCm39) |
Y208N |
probably damaging |
Het |
| Xkr8 |
C |
T |
4: 132,455,368 (GRCm39) |
R335H |
probably damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,373,870 (GRCm39) |
C25S |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,887,800 (GRCm39) |
N404I |
probably 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 |
|
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'- TCTCAGACCAGACCAGCTTG -3'
(R):5'- GGCTCTGGAATTTCTGCCTC -3'
Sequencing Primer
(F):5'- GACCAGCTTGCTCCAGCTAC -3'
(R):5'- GCCTCCTTCCCTATGAGTGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation