Incidental Mutation 'R9750:Pgr'
| ID |
732469 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R9750 (G1)
|
| Quality Score |
147.008 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
8899834-8968612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8901918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 484
(S484P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070463]
[ENSMUST00000098986]
[ENSMUST00000189181]
|
| AlphaFold |
Q00175 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070463
AA Change: S484P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: S484P
| 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 |
possibly damaging
Transcript: ENSMUST00000098986
AA Change: S319P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: S319P
| 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 |
possibly damaging
Transcript: ENSMUST00000189181
AA Change: S484P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: S484P
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
G |
T |
11: 50,494,333 (GRCm39) |
V136L |
probably benign |
Het |
| Adamtsl3 |
G |
T |
7: 82,244,589 (GRCm39) |
L1348F |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,504,102 (GRCm39) |
T369S |
probably benign |
Het |
| Anapc2 |
T |
G |
2: 25,174,982 (GRCm39) |
V700G |
possibly damaging |
Het |
| Aox3 |
C |
T |
1: 58,215,648 (GRCm39) |
Q1027* |
probably null |
Het |
| Ap5m1 |
A |
G |
14: 49,317,756 (GRCm39) |
T338A |
probably benign |
Het |
| Carf |
T |
A |
1: 60,171,158 (GRCm39) |
Y240* |
probably null |
Het |
| Ccl21a |
G |
A |
4: 42,773,875 (GRCm39) |
A15V |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,261,462 (GRCm39) |
I429N |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,594,510 (GRCm39) |
S259P |
probably benign |
Het |
| Esp15 |
A |
G |
17: 39,955,603 (GRCm39) |
M57V |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,915,157 (GRCm39) |
I1597T |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,674,061 (GRCm39) |
S7G |
probably benign |
Het |
| Gm11562 |
G |
A |
11: 99,510,856 (GRCm39) |
P115S |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Kansl1l |
G |
C |
1: 66,817,150 (GRCm39) |
I403M |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,747,499 (GRCm39) |
H1505R |
unknown |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lpgat1 |
T |
A |
1: 191,510,587 (GRCm39) |
F391I |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Mon1a |
T |
A |
9: 107,778,778 (GRCm39) |
V334E |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,117,659 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
A |
11: 59,024,682 (GRCm39) |
R453W |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,255,858 (GRCm39) |
D121G |
possibly damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,289,684 (GRCm39) |
V572A |
probably benign |
Het |
| Pygl |
G |
T |
12: 70,245,303 (GRCm39) |
S473R |
possibly damaging |
Het |
| Samd1 |
T |
C |
8: 84,725,989 (GRCm39) |
V410A |
probably damaging |
Het |
| Serpina3j |
T |
G |
12: 104,280,942 (GRCm39) |
H38Q |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,040,204 (GRCm39) |
Y559C |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,727,866 (GRCm39) |
D426V |
unknown |
Het |
| Slc25a21 |
T |
C |
12: 56,785,382 (GRCm39) |
K158R |
probably benign |
Het |
| Smc1b |
A |
T |
15: 85,016,106 (GRCm39) |
N11K |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tcap |
A |
G |
11: 98,275,228 (GRCm39) |
T121A |
probably benign |
Het |
| Tgs1 |
C |
A |
4: 3,585,869 (GRCm39) |
Q249K |
probably damaging |
Het |
| Tiam1 |
A |
T |
16: 89,695,394 (GRCm39) |
L21Q |
probably damaging |
Het |
| Tmem131l |
G |
A |
3: 83,831,358 (GRCm39) |
A858V |
probably damaging |
Het |
| Trpm3 |
G |
A |
19: 22,903,495 (GRCm39) |
R927H |
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,077,960 (GRCm39) |
H870L |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,903,889 (GRCm39) |
C1273S |
possibly damaging |
Het |
| Zfp960 |
A |
T |
17: 17,307,898 (GRCm39) |
H204L |
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 |
|
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 |
|
X0066:Pgr
|
UTSW |
9 |
8,900,835 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACGCCTGGCTTGAAGATC -3'
(R):5'- TGCTCACCTCAGGTAGTTAAGGTATG -3'
Sequencing Primer
(F):5'- AGACTTCCCGCTGGCAC -3'
(R):5'- TTAAGGTATGGCGGGTAGACC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation