Incidental Mutation 'R5171:Gper1'
| ID |
398705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gper1
|
| Ensembl Gene |
ENSMUSG00000053647 |
| Gene Name |
G protein-coupled estrogen receptor 1 |
| Synonyms |
CMKRL2, 6330420K13Rik, FEG-1, GPCR-Br, Gpr30, Ceprl, Gper |
| MMRRC Submission |
042751-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R5171 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139408906-139413555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 139412413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 253
(R253C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066052]
[ENSMUST00000066211]
[ENSMUST00000198474]
|
| AlphaFold |
Q8BMP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066052
|
| SMART Domains |
Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
77 |
N/A |
INTRINSIC |
|
Pfam:DUF2373
|
103 |
165 |
3e-26 |
PFAM |
|
low complexity region
|
184 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066211
AA Change: R253C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080370
Gene: ENSMUSG00000053647
AA Change: R253C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
76 |
324 |
2e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197512
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198474
|
| SMART Domains |
Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
77 |
N/A |
INTRINSIC |
|
Pfam:DUF2373
|
102 |
141 |
9e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum. The protein binds estrogen, resulting in intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. Alternate transcriptional splice variants which encode the same protein have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased thymic atrophy, insulin, and glucagon responses following treatment with PGE2. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
A |
1: 130,670,584 (GRCm39) |
Q269K |
probably benign |
Het |
| Acad9 |
T |
A |
3: 36,128,547 (GRCm39) |
I136N |
possibly damaging |
Het |
| Adtrp |
A |
G |
13: 41,931,039 (GRCm39) |
S183P |
probably damaging |
Het |
| Atp11b |
C |
T |
3: 35,887,086 (GRCm39) |
T690I |
probably damaging |
Het |
| Bcl2l12 |
G |
A |
7: 44,640,818 (GRCm39) |
|
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,752,503 (GRCm39) |
|
noncoding transcript |
Het |
| Ccl12 |
T |
C |
11: 81,993,460 (GRCm39) |
C33R |
probably damaging |
Het |
| Cdc25a |
T |
A |
9: 109,706,229 (GRCm39) |
S57R |
probably benign |
Het |
| Coro2a |
T |
A |
4: 46,542,372 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,749,605 (GRCm39) |
V55A |
possibly damaging |
Het |
| Ddn |
A |
G |
15: 98,704,207 (GRCm39) |
S362P |
possibly damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Donson |
A |
G |
16: 91,478,181 (GRCm39) |
V258A |
possibly damaging |
Het |
| Gm3336 |
G |
A |
8: 71,174,524 (GRCm39) |
V163I |
probably benign |
Het |
| Gpsm1 |
T |
A |
2: 26,217,476 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
A |
G |
5: 135,469,156 (GRCm39) |
S251P |
probably damaging |
Het |
| Ifi214 |
A |
G |
1: 173,354,200 (GRCm39) |
S157P |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,937,907 (GRCm39) |
V1535A |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,396,430 (GRCm39) |
N185S |
probably benign |
Het |
| Mnx1 |
T |
C |
5: 29,679,851 (GRCm39) |
Q252R |
unknown |
Het |
| Mroh3 |
A |
T |
1: 136,119,394 (GRCm39) |
L463Q |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,406,967 (GRCm39) |
V1030A |
possibly damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,640 (GRCm39) |
T257A |
probably benign |
Het |
| Or5ak20 |
T |
C |
2: 85,184,114 (GRCm39) |
D52G |
probably benign |
Het |
| Or5w1 |
T |
G |
2: 87,486,888 (GRCm39) |
I126L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,167,419 (GRCm39) |
Y1015H |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,801,829 (GRCm39) |
T256I |
probably benign |
Het |
| Rexo5 |
T |
A |
7: 119,423,002 (GRCm39) |
I278N |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,300,499 (GRCm39) |
S77T |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,741,808 (GRCm39) |
A804T |
probably benign |
Het |
| Slc24a2 |
T |
A |
4: 86,914,871 (GRCm39) |
I589F |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,951,181 (GRCm39) |
I217K |
probably benign |
Het |
| Slc5a7 |
T |
C |
17: 54,583,704 (GRCm39) |
T529A |
probably benign |
Het |
| Spata22 |
T |
A |
11: 73,227,034 (GRCm39) |
S83T |
probably damaging |
Het |
| Spata31e4 |
A |
T |
13: 50,854,414 (GRCm39) |
T91S |
possibly damaging |
Het |
| Stac2 |
A |
T |
11: 97,934,324 (GRCm39) |
C127S |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,062,259 (GRCm39) |
H2531R |
probably benign |
Het |
| Tmem151a |
G |
T |
19: 5,132,061 (GRCm39) |
R382S |
probably damaging |
Het |
| Trim60 |
T |
C |
8: 65,453,176 (GRCm39) |
T358A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,665,236 (GRCm39) |
M1048L |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,965,074 (GRCm39) |
S306P |
probably damaging |
Het |
| Zfp26 |
T |
C |
9: 20,356,203 (GRCm39) |
K35R |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,016,986 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gper1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
P0040:Gper1
|
UTSW |
5 |
139,412,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1233:Gper1
|
UTSW |
5 |
139,412,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Gper1
|
UTSW |
5 |
139,412,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Gper1
|
UTSW |
5 |
139,412,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2078:Gper1
|
UTSW |
5 |
139,411,888 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3827:Gper1
|
UTSW |
5 |
139,412,755 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4604:Gper1
|
UTSW |
5 |
139,412,480 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4914:Gper1
|
UTSW |
5 |
139,412,623 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6836:Gper1
|
UTSW |
5 |
139,412,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7801:Gper1
|
UTSW |
5 |
139,412,443 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8302:Gper1
|
UTSW |
5 |
139,412,030 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8708:Gper1
|
UTSW |
5 |
139,411,690 (GRCm39) |
missense |
probably benign |
|
|
R9142:Gper1
|
UTSW |
5 |
139,412,312 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9354:Gper1
|
UTSW |
5 |
139,412,029 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9511:Gper1
|
UTSW |
5 |
139,412,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCTGGATGGCCTCAGTG -3'
(R):5'- AGGCTGCAAGGTTGACTATG -3'
Sequencing Primer
(F):5'- CTTCACAGCGGTGCACCTG -3'
(R):5'- CTGCAAGGTTGACTATGTGGCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation