Incidental Mutation 'R3024:Sstr3'
| ID |
265781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sstr3
|
| Ensembl Gene |
ENSMUSG00000044933 |
| Gene Name |
somatostatin receptor 3 |
| Synonyms |
Smstr-3, Smstr3, sst3 |
| MMRRC Submission |
040540-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3024 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78421208-78428885 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78424187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 187
(R187W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053239]
[ENSMUST00000230400]
|
| AlphaFold |
P30935 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053239
AA Change: R187W
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058040
Gene: ENSMUSG00000044933
AA Change: R187W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
53 |
291 |
1.9e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
56 |
337 |
3.5e-15 |
PFAM |
|
Pfam:7tm_1
|
62 |
322 |
6.3e-60 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
121 |
337 |
9.5e-8 |
PFAM |
|
coiled coil region
|
355 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230400
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the somatostatin receptor protein family. 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. 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 protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef37 |
T |
C |
18: 61,634,959 (GRCm39) |
E461G |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,687,879 (GRCm39) |
V182D |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Chil6 |
T |
C |
3: 106,296,086 (GRCm39) |
D383G |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,081,808 (GRCm39) |
A175V |
probably benign |
Het |
| Kcnh7 |
G |
T |
2: 62,595,007 (GRCm39) |
R688S |
probably damaging |
Het |
| Krt6a |
A |
T |
15: 101,599,724 (GRCm39) |
C463S |
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,693,125 (GRCm39) |
I191N |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,833,272 (GRCm39) |
V1698A |
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,647,918 (GRCm39) |
D68E |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,833,584 (GRCm39) |
N278I |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,763,795 (GRCm39) |
R572Q |
probably benign |
Het |
| Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,129,787 (GRCm39) |
H453R |
probably damaging |
Het |
| Prex1 |
G |
T |
2: 166,430,956 (GRCm39) |
H615Q |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 108,987,982 (GRCm39) |
I41N |
probably damaging |
Het |
| Slc35f5 |
A |
G |
1: 125,496,335 (GRCm39) |
S157G |
probably benign |
Het |
| Trim41 |
T |
C |
11: 48,698,985 (GRCm39) |
K420E |
possibly damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,375 (GRCm39) |
Y353C |
probably damaging |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,305 (GRCm39) |
I36M |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,147,883 (GRCm39) |
V149D |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,966,355 (GRCm39) |
E815K |
probably benign |
Het |
|
| Other mutations in Sstr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Sstr3
|
APN |
15 |
78,424,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0442:Sstr3
|
UTSW |
15 |
78,424,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1714:Sstr3
|
UTSW |
15 |
78,424,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Sstr3
|
UTSW |
15 |
78,424,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Sstr3
|
UTSW |
15 |
78,424,711 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2351:Sstr3
|
UTSW |
15 |
78,424,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3023:Sstr3
|
UTSW |
15 |
78,424,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3770:Sstr3
|
UTSW |
15 |
78,424,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4399:Sstr3
|
UTSW |
15 |
78,424,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Sstr3
|
UTSW |
15 |
78,423,897 (GRCm39) |
nonsense |
probably null |
|
|
R6181:Sstr3
|
UTSW |
15 |
78,423,661 (GRCm39) |
missense |
probably benign |
|
|
R6247:Sstr3
|
UTSW |
15 |
78,423,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7450:Sstr3
|
UTSW |
15 |
78,424,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Sstr3
|
UTSW |
15 |
78,424,717 (GRCm39) |
missense |
probably benign |
|
|
R7793:Sstr3
|
UTSW |
15 |
78,424,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Sstr3
|
UTSW |
15 |
78,424,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9263:Sstr3
|
UTSW |
15 |
78,423,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Sstr3
|
UTSW |
15 |
78,423,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9265:Sstr3
|
UTSW |
15 |
78,423,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Sstr3
|
UTSW |
15 |
78,423,574 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
Z1177:Sstr3
|
UTSW |
15 |
78,423,503 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGCAGATAGAAAGGCATCC -3'
(R):5'- TGGCATCAACCAGTTCACCAG -3'
Sequencing Primer
(F):5'- TGTACCCACTGACACGAGG -3'
(R):5'- AACCAGTTCACCAGCATCTTCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation