Incidental Mutation 'R0305:Pgr'
| ID |
24900 |
| 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 |
038516-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R0305 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8899834-8968612 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 8902088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070463]
[ENSMUST00000098986]
[ENSMUST00000189181]
|
| AlphaFold |
Q00175 |
| Predicted Effect |
probably benign
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 |
probably benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
G |
A |
7: 27,274,061 (GRCm39) |
R183Q |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,164,137 (GRCm39) |
|
probably benign |
Het |
| Ada |
T |
C |
2: 163,570,077 (GRCm39) |
K312R |
probably benign |
Het |
| Adam21 |
C |
A |
12: 81,607,059 (GRCm39) |
K234N |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,108,776 (GRCm39) |
|
probably null |
Het |
| Aimp1 |
T |
G |
3: 132,379,747 (GRCm39) |
K132Q |
possibly damaging |
Het |
| Aldh16a1 |
C |
T |
7: 44,797,403 (GRCm39) |
R135Q |
probably damaging |
Het |
| Alox12b |
A |
T |
11: 69,058,205 (GRCm39) |
Y519F |
probably benign |
Het |
| Alppl2 |
T |
C |
1: 87,017,324 (GRCm39) |
E25G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,062,210 (GRCm39) |
N3531I |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,391,935 (GRCm39) |
L321P |
probably damaging |
Het |
| Cab39l |
C |
T |
14: 59,757,028 (GRCm39) |
Q137* |
probably null |
Het |
| Cenpo |
A |
T |
12: 4,266,660 (GRCm39) |
H149Q |
possibly damaging |
Het |
| Cpt1a |
A |
G |
19: 3,428,455 (GRCm39) |
T610A |
probably benign |
Het |
| Dcbld2 |
A |
G |
16: 58,269,302 (GRCm39) |
T271A |
probably damaging |
Het |
| Dcps |
A |
G |
9: 35,087,065 (GRCm39) |
|
probably null |
Het |
| Dnai2 |
A |
G |
11: 114,643,720 (GRCm39) |
D462G |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,715,752 (GRCm39) |
|
probably benign |
Het |
| Eomes |
A |
T |
9: 118,313,825 (GRCm39) |
E623D |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,744,747 (GRCm39) |
H594L |
probably benign |
Het |
| Gad1-ps |
T |
G |
10: 99,280,665 (GRCm39) |
|
noncoding transcript |
Het |
| Galk2 |
A |
G |
2: 125,729,808 (GRCm39) |
Y63C |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,430,260 (GRCm39) |
L227P |
probably damaging |
Het |
| Itgb4 |
T |
G |
11: 115,870,238 (GRCm39) |
C73G |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,212,601 (GRCm39) |
H1472R |
possibly damaging |
Het |
| Kcnh5 |
C |
T |
12: 75,161,171 (GRCm39) |
A246T |
probably benign |
Het |
| Kpna6 |
G |
T |
4: 129,543,042 (GRCm39) |
R458S |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,206,982 (GRCm39) |
T498A |
probably damaging |
Het |
| Lrrd1 |
T |
G |
5: 3,915,707 (GRCm39) |
I768S |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,452,253 (GRCm39) |
V223A |
probably benign |
Het |
| Nod2 |
G |
A |
8: 89,391,951 (GRCm39) |
A731T |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,569,313 (GRCm39) |
C1403Y |
probably damaging |
Het |
| Nxph1 |
A |
T |
6: 9,247,754 (GRCm39) |
I242F |
probably damaging |
Het |
| Or5p79 |
G |
A |
7: 108,221,792 (GRCm39) |
V258I |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,946,129 (GRCm39) |
S566P |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,866,764 (GRCm39) |
Y242C |
probably damaging |
Het |
| Sftpc |
T |
A |
14: 70,761,518 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
T |
G |
5: 35,881,343 (GRCm39) |
E33D |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,464,819 (GRCm39) |
L344P |
probably benign |
Het |
| Slc39a5 |
T |
A |
10: 128,234,265 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
C |
A |
4: 19,839,401 (GRCm39) |
H335N |
probably benign |
Het |
| Slco1a4 |
A |
C |
6: 141,763,479 (GRCm39) |
N412K |
possibly damaging |
Het |
| Sox1 |
A |
T |
8: 12,446,736 (GRCm39) |
T126S |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,081,663 (GRCm39) |
V353E |
probably damaging |
Het |
| Stat5b |
T |
C |
11: 100,693,329 (GRCm39) |
E104G |
probably benign |
Het |
| Sult4a1 |
A |
G |
15: 83,970,868 (GRCm39) |
V179A |
probably damaging |
Het |
| Tafa5 |
T |
A |
15: 87,604,709 (GRCm39) |
I83N |
probably damaging |
Het |
| Tbl3 |
G |
A |
17: 24,924,435 (GRCm39) |
R134C |
probably damaging |
Het |
| Tmem256 |
T |
A |
11: 69,729,737 (GRCm39) |
|
probably benign |
Het |
| Tmigd1 |
A |
G |
11: 76,797,960 (GRCm39) |
T101A |
probably damaging |
Het |
| Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,079,459 (GRCm39) |
S1679T |
probably benign |
Het |
| Vmn2r1 |
T |
G |
3: 63,997,087 (GRCm39) |
C248G |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,076,967 (GRCm39) |
I400V |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,246,713 (GRCm39) |
L685H |
probably damaging |
Het |
| Yeats4 |
A |
G |
10: 117,051,741 (GRCm39) |
F172S |
probably damaging |
Het |
| Zfpm2 |
T |
G |
15: 40,637,431 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
2013-04-16 |
Incidental Mutation