Incidental Mutation 'R6134:Pgr'
ID |
487284 |
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 |
044281-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.460)
|
Stock # |
R6134 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
8899834-8968612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8900740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 91
(V91A)
|
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: V91A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000063562 Gene: ENSMUSG00000031870 AA Change: V91A
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 |
possibly damaging
Transcript: ENSMUST00000189181
AA Change: V91A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140124 Gene: ENSMUSG00000031870 AA Change: V91A
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
94% (51/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
G |
A |
11: 58,767,619 (GRCm39) |
E39K |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Aktip |
T |
A |
8: 91,856,388 (GRCm39) |
S30C |
probably damaging |
Het |
Anxa10 |
G |
T |
8: 62,530,977 (GRCm39) |
H78N |
probably damaging |
Het |
Aoah |
C |
T |
13: 21,095,293 (GRCm39) |
R196W |
probably damaging |
Het |
Arl4c |
A |
T |
1: 88,629,152 (GRCm39) |
W79R |
probably damaging |
Het |
Brd2 |
A |
T |
17: 34,332,669 (GRCm39) |
D178E |
probably benign |
Het |
Cacna1e |
G |
A |
1: 154,577,037 (GRCm39) |
P120L |
probably damaging |
Het |
Cdh16 |
A |
T |
8: 105,342,697 (GRCm39) |
M17K |
probably benign |
Het |
Cdhr17 |
A |
T |
5: 17,029,683 (GRCm39) |
D473V |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,071,798 (GRCm39) |
T103A |
possibly damaging |
Het |
Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
Coch |
T |
A |
12: 51,649,536 (GRCm39) |
D282E |
probably damaging |
Het |
Col1a2 |
C |
A |
6: 4,538,035 (GRCm39) |
S1181R |
unknown |
Het |
Col6a2 |
T |
C |
10: 76,442,978 (GRCm39) |
D506G |
probably damaging |
Het |
Crx |
A |
T |
7: 15,602,032 (GRCm39) |
Y215* |
probably null |
Het |
Fasn |
A |
T |
11: 120,713,012 (GRCm39) |
S58T |
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,580,651 (GRCm39) |
E518G |
possibly damaging |
Het |
Garem1 |
A |
T |
18: 21,262,881 (GRCm39) |
D644E |
probably benign |
Het |
H2-Q2 |
A |
C |
17: 35,562,217 (GRCm39) |
T155P |
probably damaging |
Het |
Insr |
A |
T |
8: 3,242,572 (GRCm39) |
I49N |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Lnpep |
A |
G |
17: 17,773,454 (GRCm39) |
M639T |
probably benign |
Het |
Lypd11 |
G |
A |
7: 24,425,481 (GRCm39) |
A3V |
probably damaging |
Het |
Map3k20 |
C |
T |
2: 72,240,503 (GRCm39) |
S333F |
probably damaging |
Het |
Miga2 |
A |
G |
2: 30,261,229 (GRCm39) |
S175G |
probably benign |
Het |
Muc3a |
A |
T |
5: 137,244,579 (GRCm39) |
I191N |
probably damaging |
Het |
Ncoa2 |
A |
G |
1: 13,244,595 (GRCm39) |
V701A |
probably damaging |
Het |
Nid2 |
T |
C |
14: 19,828,851 (GRCm39) |
V565A |
probably damaging |
Het |
Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
Numbl |
G |
C |
7: 26,980,739 (GRCm39) |
A574P |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,907,113 (GRCm39) |
V508A |
unknown |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,647,461 (GRCm39) |
S197T |
probably benign |
Het |
Pck2 |
T |
A |
14: 55,781,419 (GRCm39) |
M180K |
probably damaging |
Het |
Phtf1 |
A |
T |
3: 103,911,721 (GRCm39) |
M643L |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,837 (GRCm39) |
T3A |
possibly damaging |
Het |
Ptgs1 |
T |
C |
2: 36,141,190 (GRCm39) |
Y546H |
probably damaging |
Het |
Rasa1 |
A |
G |
13: 85,374,745 (GRCm39) |
L742P |
probably benign |
Het |
Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
Rgs22 |
A |
G |
15: 36,107,194 (GRCm39) |
L64P |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,302,296 (GRCm39) |
I407F |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
Scin |
G |
A |
12: 40,110,578 (GRCm39) |
P690L |
probably damaging |
Het |
Septin9 |
T |
C |
11: 117,242,987 (GRCm39) |
L58P |
probably damaging |
Het |
Slc1a7 |
A |
G |
4: 107,869,633 (GRCm39) |
E566G |
probably damaging |
Het |
Speer4f1 |
G |
A |
5: 17,681,140 (GRCm39) |
R6Q |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,890,986 (GRCm39) |
Y443F |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,135,143 (GRCm39) |
I79V |
probably benign |
Het |
Ttll6 |
C |
T |
11: 96,030,568 (GRCm39) |
T245I |
possibly damaging |
Het |
Vmn2r26 |
T |
C |
6: 124,038,444 (GRCm39) |
I673T |
probably damaging |
Het |
Zfp60 |
T |
C |
7: 27,449,323 (GRCm39) |
F664L |
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 |
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'- TTGCTTGCACGCTTGGACTC -3'
(R):5'- TGATCTCTGGCCGACTCATGAG -3'
Sequencing Primer
(F):5'- ACTCAGGTCCCTTCCAAGG -3'
(R):5'- CGGGGACAACAACCCTTTG -3'
|
Posted On |
2017-10-10 |