Incidental Mutation 'R5263:Sucnr1'
| ID |
401543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sucnr1
|
| Ensembl Gene |
ENSMUSG00000027762 |
| Gene Name |
succinate receptor 1 |
| Synonyms |
Gpr91 |
| MMRRC Submission |
042831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5263 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59989290-59994987 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59994190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 239
(I239M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029326]
|
| AlphaFold |
Q99MT6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029326
AA Change: I239M
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029326
Gene: ENSMUSG00000027762
AA Change: I239M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
36 |
290 |
9.3e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195544
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased renin plasma and kidney levels upon high-glucose stimulation in a diabetic or non-diabetic model. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
G |
T |
3: 138,133,816 (GRCm39) |
V309L |
probably benign |
Het |
| Agmo |
T |
C |
12: 37,407,680 (GRCm39) |
V188A |
probably benign |
Het |
| Aqr |
A |
G |
2: 113,947,059 (GRCm39) |
M1041T |
probably damaging |
Het |
| Arhgef4 |
T |
A |
1: 34,764,078 (GRCm39) |
S1111R |
possibly damaging |
Het |
| Ascc3 |
A |
C |
10: 50,592,757 (GRCm39) |
E1144D |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,228,672 (GRCm39) |
|
probably null |
Het |
| Cd209f |
T |
C |
8: 4,154,506 (GRCm39) |
T114A |
probably benign |
Het |
| Cgnl1 |
G |
A |
9: 71,539,936 (GRCm39) |
Q1103* |
probably null |
Het |
| Cop1 |
G |
A |
1: 159,152,507 (GRCm39) |
D586N |
probably damaging |
Het |
| Dcaf5 |
A |
G |
12: 80,395,120 (GRCm39) |
S350P |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,084,755 (GRCm39) |
C658R |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,969,446 (GRCm39) |
V424I |
possibly damaging |
Het |
| Gfap |
C |
T |
11: 102,787,756 (GRCm39) |
R63Q |
probably damaging |
Het |
| Gm10563 |
CTTT |
CTTTATTT |
4: 155,698,940 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
C |
A |
10: 51,502,900 (GRCm39) |
G321V |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Izumo1r |
A |
G |
9: 14,812,976 (GRCm39) |
C99R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,850,691 (GRCm39) |
D102G |
probably damaging |
Het |
| Mettl4 |
G |
A |
17: 95,047,937 (GRCm39) |
Q235* |
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,121,541 (GRCm39) |
T804A |
probably benign |
Het |
| Mrgprb5 |
A |
G |
7: 47,817,937 (GRCm39) |
V266A |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,188 (GRCm39) |
D195G |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,731,465 (GRCm39) |
L206P |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Prkd1 |
A |
G |
12: 50,435,089 (GRCm39) |
L546P |
probably damaging |
Het |
| Rhob |
A |
T |
12: 8,549,232 (GRCm39) |
M134K |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,548,347 (GRCm39) |
S3087P |
possibly damaging |
Het |
| Sema6c |
T |
C |
3: 95,080,463 (GRCm39) |
L887P |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,492,081 (GRCm39) |
S648P |
unknown |
Het |
| Tgtp2 |
T |
A |
11: 48,950,090 (GRCm39) |
M161L |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,663,137 (GRCm39) |
V1037A |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,321,841 (GRCm39) |
H285Q |
probably benign |
Het |
| Zfp971 |
T |
A |
2: 177,675,555 (GRCm39) |
C385S |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,791 (GRCm39) |
V283E |
probably benign |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sucnr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Sucnr1
|
APN |
3 |
59,994,053 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01656:Sucnr1
|
APN |
3 |
59,993,832 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02096:Sucnr1
|
APN |
3 |
59,994,371 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0727:Sucnr1
|
UTSW |
3 |
59,994,081 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4110:Sucnr1
|
UTSW |
3 |
59,994,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4112:Sucnr1
|
UTSW |
3 |
59,994,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Sucnr1
|
UTSW |
3 |
59,994,190 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4831:Sucnr1
|
UTSW |
3 |
59,994,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Sucnr1
|
UTSW |
3 |
59,994,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Sucnr1
|
UTSW |
3 |
59,993,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Sucnr1
|
UTSW |
3 |
59,994,144 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6574:Sucnr1
|
UTSW |
3 |
59,994,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Sucnr1
|
UTSW |
3 |
59,993,699 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7072:Sucnr1
|
UTSW |
3 |
59,993,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Sucnr1
|
UTSW |
3 |
59,994,117 (GRCm39) |
missense |
probably benign |
|
|
R7918:Sucnr1
|
UTSW |
3 |
59,993,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Sucnr1
|
UTSW |
3 |
59,994,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Sucnr1
|
UTSW |
3 |
59,994,155 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8891:Sucnr1
|
UTSW |
3 |
59,994,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTACAGCCTCTGCCTGAC -3'
(R):5'- AGCAGCTCATGTCCTGAAGG -3'
Sequencing Primer
(F):5'- GACTTTGTTGGGCTTCCTAATTC -3'
(R):5'- AATCAGCATCTCTCTGTAATGGTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation