Incidental Mutation 'R3827:Gper1'
| ID |
273800 |
| 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 |
040775-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R3827 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139408906-139413555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139412755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 367
(S367P)
|
| 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 benign
Transcript: ENSMUST00000066211
AA Change: S367P
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000080370
Gene: ENSMUSG00000053647
AA Change: S367P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
A |
G |
16: 35,110,467 (GRCm39) |
N878S |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,045,409 (GRCm39) |
D342N |
probably benign |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Dpp10 |
G |
A |
1: 123,339,519 (GRCm39) |
T336I |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,125,741 (GRCm39) |
S625P |
possibly damaging |
Het |
| Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gab2 |
T |
A |
7: 96,872,948 (GRCm39) |
I117N |
probably damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| H2-Q6 |
A |
T |
17: 35,644,655 (GRCm39) |
N148I |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,090,732 (GRCm39) |
|
probably null |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,009 (GRCm39) |
I27N |
probably benign |
Het |
| Paip1 |
T |
A |
13: 119,566,768 (GRCm39) |
M1K |
probably null |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
| Skint6 |
G |
T |
4: 112,794,634 (GRCm39) |
L712I |
probably benign |
Het |
| Slc35a4 |
C |
A |
18: 36,816,041 (GRCm39) |
N290K |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,198,975 (GRCm39) |
D230V |
probably damaging |
Het |
| Sox21 |
C |
T |
14: 118,472,870 (GRCm39) |
E60K |
possibly damaging |
Het |
| Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
G |
A |
1: 12,887,656 (GRCm39) |
V277I |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,033,805 (GRCm39) |
R3685G |
probably benign |
Het |
| Tmem203 |
T |
A |
2: 25,146,018 (GRCm39) |
W113R |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,914,787 (GRCm39) |
V784E |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,814,548 (GRCm39) |
T56A |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
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 |
|
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 |
|
R5171:Gper1
|
UTSW |
5 |
139,412,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTGCAGCCTTCTCCAACAGC -3'
(R):5'- GCCTTGGGACCTTGAATCTG -3'
Sequencing Primer
(F):5'- TCTCCAACAGCTGCCTGAATC -3'
(R):5'- CCTTGAATCTGGATGGCAGCATC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation