Incidental Mutation 'R9639:Pgr'
| ID |
725878 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R9639 (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 T
at 8900994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 176
(S176C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070463]
[ENSMUST00000098986]
[ENSMUST00000189181]
|
| AlphaFold |
Q00175 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070463
AA Change: S176C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: S176C
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: S11C
| 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 |
possibly damaging
Transcript: ENSMUST00000189181
AA Change: S176C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: S176C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,893,345 (GRCm39) |
D1265G |
probably benign |
Het |
| Baz2b |
T |
A |
2: 59,731,828 (GRCm39) |
N2070I |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,760,840 (GRCm39) |
E2195V |
probably null |
Het |
| Cracd |
T |
C |
5: 77,005,997 (GRCm39) |
V786A |
unknown |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Ddx11 |
A |
G |
17: 66,437,012 (GRCm39) |
D102G |
|
Het |
| Egf |
T |
C |
3: 129,513,949 (GRCm39) |
T421A |
possibly damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,316,107 (GRCm39) |
V365A |
|
Het |
| Gmps |
T |
A |
3: 63,922,938 (GRCm39) |
S634T |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Lyplal1 |
A |
T |
1: 185,849,409 (GRCm39) |
C13* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,433,817 (GRCm39) |
W2255R |
probably damaging |
Het |
| Myo5c |
C |
A |
9: 75,165,477 (GRCm39) |
H428Q |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,333,948 (GRCm39) |
T1005A |
possibly damaging |
Het |
| Or2bd2 |
A |
T |
7: 6,443,290 (GRCm39) |
R130S |
probably benign |
Het |
| Pcdh12 |
C |
T |
18: 38,402,032 (GRCm39) |
M1123I |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,146,172 (GRCm39) |
S393P |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,022,713 (GRCm39) |
N312S |
probably benign |
Het |
| Qrich2 |
G |
A |
11: 116,346,924 (GRCm39) |
P1300L |
probably benign |
Het |
| Sap130 |
T |
C |
18: 31,844,789 (GRCm39) |
|
probably null |
Het |
| Slc15a3 |
T |
A |
19: 10,820,717 (GRCm39) |
Y111* |
probably null |
Het |
| Slc26a9 |
A |
G |
1: 131,678,409 (GRCm39) |
E25G |
probably damaging |
Het |
| Slc2a3 |
A |
G |
6: 122,714,199 (GRCm39) |
F110L |
probably benign |
Het |
| Spesp1 |
A |
T |
9: 62,180,238 (GRCm39) |
D223E |
possibly damaging |
Het |
| St18 |
T |
C |
1: 6,929,246 (GRCm39) |
I46T |
|
Het |
| Trmt6 |
T |
A |
2: 132,650,862 (GRCm39) |
K249* |
probably null |
Het |
| Ttll10 |
A |
T |
4: 156,119,503 (GRCm39) |
I632K |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,518 (GRCm39) |
N67S |
probably benign |
Het |
| Vmn1r28 |
C |
T |
6: 58,242,996 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r38 |
T |
G |
7: 9,078,063 (GRCm39) |
D773A |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,372,352 (GRCm39) |
Y54C |
probably damaging |
Het |
| Ywhae |
G |
A |
11: 75,650,248 (GRCm39) |
G237S |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,714 (GRCm39) |
E666G |
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 |
|
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 |
|
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'- TAGACAGTGTCTTAGACTCGTTG -3'
(R):5'- CTTCCAGTGCTCGAGGTTTG -3'
Sequencing Primer
(F):5'- ACAGTGTCTTAGACTCGTTGTTGAC -3'
(R):5'- CTCGAGGTTTGCTCTTTAGAAGC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation