Incidental Mutation 'R6604:Pgr'
ID |
525545 |
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 |
044727-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.460)
|
Stock # |
R6604 (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 C
at 8946867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 703
(T703P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140124
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070463]
[ENSMUST00000098986]
[ENSMUST00000189181]
|
AlphaFold |
Q00175 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070463
AA Change: T703P
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063562 Gene: ENSMUSG00000031870 AA Change: T703P
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: T538P
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000096584 Gene: ENSMUSG00000031870 AA Change: T538P
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 |
possibly damaging
Transcript: ENSMUST00000189181
AA Change: T703P
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140124 Gene: ENSMUSG00000031870 AA Change: T703P
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: 98.1%
- 20x: 94.4%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
A |
G |
15: 37,439,823 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
G |
11: 9,328,384 (GRCm39) |
F3486V |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,122,271 (GRCm39) |
L830P |
probably damaging |
Het |
Aurkb |
T |
A |
11: 68,939,388 (GRCm39) |
L157* |
probably null |
Het |
Bbs10 |
T |
G |
10: 111,136,965 (GRCm39) |
L693V |
possibly damaging |
Het |
Dna2 |
G |
T |
10: 62,803,522 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
A |
11: 104,589,772 (GRCm39) |
L123* |
probably null |
Het |
Ext1 |
A |
G |
15: 52,946,555 (GRCm39) |
F550L |
probably damaging |
Het |
Gm5129 |
A |
G |
5: 29,940,765 (GRCm39) |
|
probably benign |
Het |
Golm1 |
A |
G |
13: 59,786,197 (GRCm39) |
Y332H |
probably damaging |
Het |
Gpbp1l1 |
C |
T |
4: 116,430,702 (GRCm39) |
P58S |
probably benign |
Het |
Grk4 |
A |
T |
5: 34,877,208 (GRCm39) |
D301V |
probably damaging |
Het |
Haus1 |
T |
C |
18: 77,851,797 (GRCm39) |
E106G |
probably damaging |
Het |
Hpd |
T |
C |
5: 123,318,964 (GRCm39) |
|
probably null |
Het |
Kcnj6 |
C |
A |
16: 94,563,504 (GRCm39) |
E313D |
probably damaging |
Het |
Lmna |
A |
G |
3: 88,395,589 (GRCm39) |
V57A |
probably damaging |
Het |
Lrrtm1 |
T |
C |
6: 77,221,221 (GRCm39) |
F226S |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,657,895 (GRCm39) |
|
probably null |
Het |
Ppig |
T |
C |
2: 69,571,925 (GRCm39) |
S215P |
unknown |
Het |
Pramel28 |
T |
C |
4: 143,692,567 (GRCm39) |
R145G |
probably benign |
Het |
Rasgrp3 |
A |
C |
17: 75,810,110 (GRCm39) |
N270T |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,089,351 (GRCm39) |
K1305N |
unknown |
Het |
Shc1 |
A |
G |
3: 89,329,186 (GRCm39) |
Y10C |
probably damaging |
Het |
Slc12a1 |
G |
T |
2: 125,026,735 (GRCm39) |
D457Y |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,038,918 (GRCm39) |
Q544R |
possibly damaging |
Het |
Socs5 |
T |
C |
17: 87,442,553 (GRCm39) |
Y498H |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,242,671 (GRCm39) |
D1472G |
probably benign |
Het |
Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
Tmem236 |
A |
G |
2: 14,179,512 (GRCm39) |
T38A |
probably benign |
Het |
Vmn2r29 |
A |
T |
7: 7,234,858 (GRCm39) |
V676E |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,907,694 (GRCm39) |
V56A |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,189 (GRCm39) |
I810T |
possibly damaging |
Het |
Zfp958 |
T |
C |
8: 4,678,245 (GRCm39) |
L90P |
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 |
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'- TGAGAACCCTTGACGGTGTTG -3'
(R):5'- ACAGGAGATTCACCAAGCATTTTG -3'
Sequencing Primer
(F):5'- GACGGTGTTGCTCTCCC -3'
(R):5'- ACATATGGTGCTCTTTACATGGTAG -3'
|
Posted On |
2018-06-22 |