Incidental Mutation 'IGL01610:Pgr'
| ID |
91984 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pgr
|
| Ensembl Gene |
ENSMUSG00000031870 |
| Gene Name |
progesterone receptor |
| Synonyms |
NR3C3, 9930019P03Rik, PR-A, PR, ENSMUSG00000074510, PR-B |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
IGL01610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
8899834-8968612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8903692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 571
(H571L)
|
| 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: H571L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: H571L
| 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: H406L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: H406L
| 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: H571L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: H571L
| 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 |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018A14Rik |
T |
C |
18: 46,332,633 (GRCm39) |
|
probably benign |
Het |
| 4921524J17Rik |
T |
C |
8: 86,138,871 (GRCm39) |
I73V |
probably benign |
Het |
| 4930562C15Rik |
T |
A |
16: 4,669,429 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,939,867 (GRCm39) |
V323D |
probably damaging |
Het |
| Acot10 |
T |
C |
15: 20,665,781 (GRCm39) |
Y320C |
probably damaging |
Het |
| Acp6 |
T |
A |
3: 97,083,036 (GRCm39) |
V349D |
possibly damaging |
Het |
| Adcy9 |
G |
T |
16: 4,235,978 (GRCm39) |
Q478K |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,369,928 (GRCm39) |
I1843V |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,397,353 (GRCm39) |
I2528F |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,082,839 (GRCm39) |
A1988T |
possibly damaging |
Het |
| Alox5 |
C |
T |
6: 116,390,508 (GRCm39) |
V490M |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,417,408 (GRCm39) |
R1537* |
probably null |
Het |
| Bmf |
G |
A |
2: 118,379,639 (GRCm39) |
P46S |
probably benign |
Het |
| Brf1 |
T |
A |
12: 112,951,703 (GRCm39) |
H92L |
probably benign |
Het |
| Chchd1 |
A |
G |
14: 20,753,245 (GRCm39) |
N35S |
probably benign |
Het |
| Cntnap3 |
C |
T |
13: 64,905,115 (GRCm39) |
G889S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,924,906 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,816,949 (GRCm39) |
|
probably null |
Het |
| Ddx27 |
T |
C |
2: 166,863,964 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,097,504 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,814,166 (GRCm39) |
V1461A |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,804,430 (GRCm39) |
R843W |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,742 (GRCm39) |
E13G |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,499,909 (GRCm39) |
|
probably benign |
Het |
| Hpse2 |
T |
C |
19: 43,373,228 (GRCm39) |
S134G |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,284,345 (GRCm39) |
T3206A |
probably benign |
Het |
| Ier5l |
T |
A |
2: 30,363,966 (GRCm39) |
S20C |
probably damaging |
Het |
| Il1r1 |
A |
G |
1: 40,341,560 (GRCm39) |
E324G |
probably benign |
Het |
| Kdm4b |
C |
T |
17: 56,660,522 (GRCm39) |
|
probably benign |
Het |
| Lztfl1 |
T |
A |
9: 123,529,156 (GRCm39) |
E298D |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,815,405 (GRCm39) |
M647K |
probably damaging |
Het |
| Or13a25 |
C |
T |
7: 140,247,584 (GRCm39) |
A128V |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,274 (GRCm39) |
T138S |
probably benign |
Het |
| Or5j1 |
G |
T |
2: 86,878,632 (GRCm39) |
|
probably benign |
Het |
| Parvb |
A |
T |
15: 84,187,666 (GRCm39) |
K258M |
probably damaging |
Het |
| Pcdhb11 |
T |
G |
18: 37,556,412 (GRCm39) |
S581A |
probably benign |
Het |
| Pcnx2 |
C |
A |
8: 126,566,372 (GRCm39) |
A1024S |
possibly damaging |
Het |
| Pde4a |
T |
C |
9: 21,122,646 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
G |
T |
2: 156,144,809 (GRCm39) |
E806* |
probably null |
Het |
| Pilra |
T |
A |
5: 137,833,803 (GRCm39) |
I85F |
probably damaging |
Het |
| Pla2g2f |
C |
T |
4: 138,480,622 (GRCm39) |
V125M |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,705 (GRCm39) |
N708S |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,230,449 (GRCm39) |
T1165M |
probably benign |
Het |
| Rnase4 |
A |
T |
14: 51,342,378 (GRCm39) |
Y34F |
probably damaging |
Het |
| Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
| Rpl9-ps6 |
T |
A |
19: 32,443,699 (GRCm39) |
T85S |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,246,124 (GRCm39) |
P738S |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,550,217 (GRCm39) |
|
probably benign |
Het |
| Sel1l |
C |
T |
12: 91,784,064 (GRCm39) |
V459I |
probably damaging |
Het |
| Senp7 |
A |
T |
16: 55,996,186 (GRCm39) |
D755V |
possibly damaging |
Het |
| Serpinb9d |
A |
T |
13: 33,381,985 (GRCm39) |
K151N |
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,362,576 (GRCm39) |
F81S |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,083,502 (GRCm39) |
L162Q |
probably damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,216 (GRCm39) |
I264T |
possibly damaging |
Het |
| Tbl3 |
A |
T |
17: 24,923,018 (GRCm39) |
V379D |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,707,512 (GRCm39) |
L1762Q |
probably damaging |
Het |
| Trerf1 |
A |
T |
17: 47,630,501 (GRCm39) |
|
noncoding transcript |
Het |
| Ttc13 |
T |
C |
8: 125,403,083 (GRCm39) |
D552G |
probably damaging |
Het |
| Tuba3a |
G |
T |
6: 125,255,529 (GRCm39) |
T382K |
possibly damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,977 (GRCm39) |
V103E |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,307 (GRCm39) |
H139R |
possibly damaging |
Het |
| Xpo7 |
A |
T |
14: 70,940,670 (GRCm39) |
F141Y |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,673,333 (GRCm39) |
Y143* |
probably null |
Het |
| Zfp207 |
T |
A |
11: 80,276,796 (GRCm39) |
C26S |
probably damaging |
Het |
|
| Other mutations in Pgr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation