Incidental Mutation 'R0019:Sstr1'
| ID |
201355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sstr1
|
| Ensembl Gene |
ENSMUSG00000035431 |
| Gene Name |
somatostatin receptor 1 |
| Synonyms |
Smstr1, Smstr-1, sst1 |
| MMRRC Submission |
038314-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0019 (G1)
|
| Quality Score |
64 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
58258558-58261230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58259935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 186
(L186S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044299]
[ENSMUST00000110671]
|
| AlphaFold |
P30873 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044299
AA Change: L186S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037045
Gene: ENSMUSG00000035431
AA Change: L186S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srx
|
66 |
297 |
4.9e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
69 |
338 |
2.7e-14 |
PFAM |
|
Pfam:7tm_1
|
75 |
323 |
2.2e-65 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
131 |
339 |
1.9e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110671
AA Change: L186S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106299
Gene: ENSMUSG00000035431
AA Change: L186S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srx
|
66 |
299 |
4.8e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
69 |
338 |
2.7e-14 |
PFAM |
|
Pfam:7tm_1
|
75 |
323 |
4.1e-70 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
131 |
339 |
1.8e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. The protein encoded by this gene is a member of the superfamily of somatostatin receptors having seven transmembrane segments. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This somatostatin receptor has greater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous null mice display abnormal eye electrophysiology. Mice homozygous for a second targeted mutation display hypoactivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
T |
A |
8: 46,974,287 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
A |
5: 114,924,142 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,064,795 (GRCm39) |
V737D |
probably damaging |
Het |
| Dhx37 |
C |
A |
5: 125,507,098 (GRCm39) |
G133C |
probably benign |
Het |
| Espl1 |
A |
C |
15: 102,214,754 (GRCm39) |
Q765P |
probably null |
Het |
| Fasn |
A |
T |
11: 120,698,824 (GRCm39) |
|
probably benign |
Het |
| Fshb |
T |
C |
2: 106,887,690 (GRCm39) |
S110G |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,475,620 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,862,050 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
C |
T |
1: 40,164,210 (GRCm39) |
T359M |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,584,330 (GRCm39) |
R905* |
probably null |
Het |
| Myh7 |
T |
A |
14: 55,221,191 (GRCm39) |
N911Y |
possibly damaging |
Het |
| Nfatc1 |
C |
A |
18: 80,678,719 (GRCm39) |
V890L |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,577,017 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,241,932 (GRCm39) |
L273M |
probably damaging |
Het |
| Pycr3 |
A |
G |
15: 75,791,155 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,003,769 (GRCm39) |
V1737A |
possibly damaging |
Het |
| Trim69 |
A |
T |
2: 122,004,958 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,768 (GRCm39) |
Y533D |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,096,990 (GRCm39) |
I121T |
possibly damaging |
Het |
| Vinac1 |
G |
T |
2: 128,880,946 (GRCm39) |
H327N |
probably benign |
Het |
| Ywhab |
T |
A |
2: 163,858,090 (GRCm39) |
I219N |
probably damaging |
Het |
| Zfp560 |
G |
A |
9: 20,259,656 (GRCm39) |
S402L |
probably benign |
Het |
| Zfp943 |
C |
T |
17: 22,211,070 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sstr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Sstr1
|
APN |
12 |
58,259,536 (GRCm39) |
missense |
probably benign |
|
|
IGL01975:Sstr1
|
APN |
12 |
58,260,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0019:Sstr1
|
UTSW |
12 |
58,259,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Sstr1
|
UTSW |
12 |
58,259,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Sstr1
|
UTSW |
12 |
58,260,528 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1218:Sstr1
|
UTSW |
12 |
58,260,406 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1254:Sstr1
|
UTSW |
12 |
58,260,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1815:Sstr1
|
UTSW |
12 |
58,260,264 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2318:Sstr1
|
UTSW |
12 |
58,259,562 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4588:Sstr1
|
UTSW |
12 |
58,260,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5041:Sstr1
|
UTSW |
12 |
58,259,941 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6556:Sstr1
|
UTSW |
12 |
58,260,478 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7332:Sstr1
|
UTSW |
12 |
58,260,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Sstr1
|
UTSW |
12 |
58,260,456 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7380:Sstr1
|
UTSW |
12 |
58,260,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7452:Sstr1
|
UTSW |
12 |
58,260,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Sstr1
|
UTSW |
12 |
58,260,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Sstr1
|
UTSW |
12 |
58,259,569 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9095:Sstr1
|
UTSW |
12 |
58,259,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9726:Sstr1
|
UTSW |
12 |
58,259,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Sstr1
|
UTSW |
12 |
58,260,312 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAAACGCTTCCCAGAATGGGAC -3'
(R):5'- TGAGCACATAACACAGGCAAATGGC -3'
Sequencing Primer
(F):5'- CTAAACCTGGCTATTGCTGATGAG -3'
(R):5'- AGGCAAATGGCCCCGAC -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation