Incidental Mutation 'R6508:Pgr'
| ID |
524001 |
| 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 |
044638-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R6508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
8899834-8968612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8956290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 746
(Y746C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070463]
[ENSMUST00000098986]
[ENSMUST00000189181]
|
| AlphaFold |
Q00175 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070463
AA Change: Y746C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: Y746C
| 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 damaging
Transcript: ENSMUST00000098986
AA Change: Y581C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: Y581C
| 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 damaging
Transcript: ENSMUST00000189181
AA Change: Y746C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: Y746C
| 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: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
G |
A |
4: 144,291,590 (GRCm39) |
R39* |
probably null |
Het |
| Brca2 |
A |
T |
5: 150,460,058 (GRCm39) |
E444D |
possibly damaging |
Het |
| Camkk2 |
G |
T |
5: 122,884,382 (GRCm39) |
N346K |
probably damaging |
Het |
| Car4 |
C |
A |
11: 84,856,469 (GRCm39) |
D252E |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,958,895 (GRCm39) |
K649R |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,557,231 (GRCm39) |
Y1966H |
probably damaging |
Het |
| Crppa |
C |
T |
12: 36,476,298 (GRCm39) |
A180V |
possibly damaging |
Het |
| Cts6 |
T |
A |
13: 61,344,221 (GRCm39) |
H277L |
probably damaging |
Het |
| Dcc |
G |
T |
18: 71,439,144 (GRCm39) |
P1246Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,188,774 (GRCm39) |
T1739I |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,525 (GRCm39) |
R26H |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,093,516 (GRCm39) |
K1008E |
probably damaging |
Het |
| Htr2b |
T |
C |
1: 86,030,186 (GRCm39) |
T170A |
possibly damaging |
Het |
| Irgm2 |
A |
G |
11: 58,110,327 (GRCm39) |
E18G |
probably benign |
Het |
| Kdm1a |
A |
T |
4: 136,281,621 (GRCm39) |
V630E |
probably damaging |
Het |
| Keap1 |
G |
A |
9: 21,143,010 (GRCm39) |
T501I |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,194,325 (GRCm39) |
H424L |
unknown |
Het |
| Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,363,535 (GRCm39) |
D3364V |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,272,253 (GRCm39) |
G794S |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,433,452 (GRCm39) |
Q34R |
probably benign |
Het |
| Mettl4 |
T |
C |
17: 95,051,373 (GRCm39) |
E148G |
probably damaging |
Het |
| Mgat3 |
T |
C |
15: 80,096,225 (GRCm39) |
S351P |
possibly damaging |
Het |
| Mllt1 |
A |
T |
17: 57,234,054 (GRCm39) |
I44N |
probably damaging |
Het |
| Mlxipl |
G |
T |
5: 135,157,474 (GRCm39) |
A337S |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,572,973 (GRCm39) |
F254L |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,944,973 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
C |
T |
19: 13,726,718 (GRCm39) |
P83S |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,414,390 (GRCm39) |
R912* |
probably null |
Het |
| Pcdh17 |
A |
G |
14: 84,685,419 (GRCm39) |
N629D |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,959,479 (GRCm39) |
I170T |
probably damaging |
Het |
| Pramel29 |
A |
T |
4: 143,934,171 (GRCm39) |
L312* |
probably null |
Het |
| Pum2 |
T |
C |
12: 8,798,861 (GRCm39) |
Y991H |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,198,077 (GRCm39) |
V185D |
probably damaging |
Het |
| Scarb1 |
A |
T |
5: 125,381,389 (GRCm39) |
S52T |
possibly damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,053,887 (GRCm39) |
S18P |
probably benign |
Het |
| Stard13 |
G |
A |
5: 150,986,754 (GRCm39) |
T134I |
probably benign |
Het |
| Tbc1d32 |
C |
T |
10: 56,100,786 (GRCm39) |
C64Y |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,551,494 (GRCm39) |
I296L |
probably damaging |
Het |
| Tmem229b |
T |
G |
12: 79,011,680 (GRCm39) |
T84P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,757 (GRCm39) |
T32782A |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,631 (GRCm39) |
V150I |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,290 (GRCm39) |
F705L |
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 |
|
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 |
|
|
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'- CTCCTTATAGGCTGTTGTGAGC -3'
(R):5'- GGCACCCAAAGGTCTCTTAGTC -3'
Sequencing Primer
(F):5'- CCTTATAGGCTGTTGTGAGCATTTTC -3'
(R):5'- GAGACCTTACATCAATGGATATTGCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation