Incidental Mutation 'R2023:Pgr'
| ID |
220137 |
| 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 |
040032-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R2023 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8899834-8968612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8958399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 802
(V802D)
|
| 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: V802D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: V802D
| 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: V637D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: V637D
| 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: V802D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: V802D
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,247 (GRCm39) |
S447P |
possibly damaging |
Het |
| 9930111J21Rik2 |
A |
G |
11: 48,911,144 (GRCm39) |
F430L |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,938,233 (GRCm39) |
V297A |
probably damaging |
Het |
| Adam3 |
G |
A |
8: 25,179,479 (GRCm39) |
R613C |
possibly damaging |
Het |
| Akt1 |
C |
T |
12: 112,626,071 (GRCm39) |
R67Q |
probably benign |
Het |
| Ambp |
T |
C |
4: 63,069,702 (GRCm39) |
Y108C |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,090 (GRCm39) |
I3158V |
probably benign |
Het |
| Bank1 |
T |
C |
3: 136,031,679 (GRCm39) |
T8A |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
| Ccdc88a |
G |
T |
11: 29,413,546 (GRCm39) |
E695* |
probably null |
Het |
| Cep68 |
A |
C |
11: 20,189,888 (GRCm39) |
S375A |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,236,375 (GRCm39) |
I417V |
probably benign |
Het |
| Chrna2 |
T |
A |
14: 66,379,677 (GRCm39) |
H5Q |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,536,193 (GRCm39) |
I549K |
probably damaging |
Het |
| Col28a1 |
C |
A |
6: 8,083,783 (GRCm39) |
S558I |
possibly damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,505 (GRCm39) |
I385T |
probably damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
| Erap1 |
T |
A |
13: 74,814,627 (GRCm39) |
V451E |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm5616 |
A |
G |
9: 48,361,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5709 |
T |
C |
3: 59,543,142 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,321,785 (GRCm39) |
M1054K |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,728,484 (GRCm39) |
N200S |
probably benign |
Het |
| Kdm2a |
C |
A |
19: 4,372,492 (GRCm39) |
R951L |
probably damaging |
Het |
| Ldhd |
T |
A |
8: 112,356,578 (GRCm39) |
H61L |
probably damaging |
Het |
| Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,703,266 (GRCm39) |
V190A |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,195,883 (GRCm39) |
V627E |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,806,502 (GRCm39) |
L1813P |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,744,296 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
G |
T |
2: 89,969,200 (GRCm39) |
C94* |
probably null |
Het |
| Or5p63 |
A |
G |
7: 107,811,049 (GRCm39) |
L229P |
probably damaging |
Het |
| Or6c1b |
T |
A |
10: 129,273,451 (GRCm39) |
Y257N |
probably damaging |
Het |
| Osbpl2 |
C |
A |
2: 179,791,969 (GRCm39) |
|
probably null |
Het |
| Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
| Pgs1 |
A |
G |
11: 117,893,228 (GRCm39) |
E55G |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,614,744 (GRCm39) |
|
probably null |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
| Ptprd |
C |
T |
4: 75,875,341 (GRCm39) |
E1240K |
probably damaging |
Het |
| Recql5 |
G |
A |
11: 115,784,466 (GRCm39) |
T878I |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,669,036 (GRCm39) |
D233G |
possibly damaging |
Het |
| Sectm1a |
A |
G |
11: 120,960,408 (GRCm39) |
|
probably benign |
Het |
| Smo |
A |
G |
6: 29,754,715 (GRCm39) |
N262D |
possibly damaging |
Het |
| Srcin1 |
A |
G |
11: 97,416,872 (GRCm39) |
S931P |
probably benign |
Het |
| Tcof1 |
C |
T |
18: 60,966,605 (GRCm39) |
G329R |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,327,535 (GRCm39) |
H1446Y |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,026 (GRCm39) |
T671A |
probably damaging |
Het |
| Tmem171 |
C |
A |
13: 98,828,733 (GRCm39) |
W139L |
probably damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,810,368 (GRCm39) |
R385* |
probably null |
Het |
| Vps13c |
A |
T |
9: 67,843,567 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
G |
T |
7: 29,230,959 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp287 |
A |
C |
11: 62,605,808 (GRCm39) |
Y366* |
probably null |
Het |
| Zfp456 |
A |
T |
13: 67,514,616 (GRCm39) |
C363* |
probably null |
Het |
| Zfp523 |
A |
G |
17: 28,419,978 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
C |
7: 6,308,416 (GRCm39) |
K361N |
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 |
|
|
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'- TGAACTCCTATTCACTGACACG -3'
(R):5'- GCTCGAGTTCCTATTAACTGGC -3'
Sequencing Primer
(F):5'- GACACGTTGTATCACTGCCTGG -3'
(R):5'- GGAAATTCCTCCTTCACAGTTAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation