Incidental Mutation 'IGL02670:Sstr4'
ID |
302886 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sstr4
|
Ensembl Gene |
ENSMUSG00000037014 |
Gene Name |
somatostatin receptor 4 |
Synonyms |
Smstr4, sst4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
IGL02670
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
148237297-148238684 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 148238453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 355
(G355*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109962]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000109962
AA Change: G355*
|
SMART Domains |
Protein: ENSMUSP00000105588 Gene: ENSMUSG00000037014 AA Change: G355*
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
55 |
323 |
4.7e-16 |
PFAM |
Pfam:7tm_1
|
61 |
308 |
2.2e-61 |
PFAM |
Pfam:7TM_GPCR_Srv
|
117 |
325 |
1.8e-10 |
PFAM |
Pfam:7TM_GPCR_Srw
|
203 |
326 |
8.1e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygote null mice have increased susceptibility to inflammation, delayed type hypersensitivity, hyperalgesia and airway hypersensitivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb1 |
T |
C |
1: 91,474,640 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
C |
T |
3: 37,021,454 (GRCm39) |
Q2193* |
probably null |
Het |
Cnot6 |
G |
A |
11: 49,575,941 (GRCm39) |
Q178* |
probably null |
Het |
Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
Cyp27b1 |
T |
C |
10: 126,886,227 (GRCm39) |
S303P |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,409,442 (GRCm39) |
L3620P |
probably damaging |
Het |
Dock7 |
A |
T |
4: 98,854,523 (GRCm39) |
|
probably null |
Het |
Fam161b |
T |
C |
12: 84,404,368 (GRCm39) |
D104G |
probably benign |
Het |
Fam8a1 |
A |
G |
13: 46,827,080 (GRCm39) |
M284V |
possibly damaging |
Het |
Fkbp3 |
T |
A |
12: 65,115,877 (GRCm39) |
K65* |
probably null |
Het |
Gatb |
A |
G |
3: 85,520,858 (GRCm39) |
|
probably null |
Het |
Gm572 |
A |
T |
4: 148,735,685 (GRCm39) |
H38L |
probably benign |
Het |
Gm6576 |
A |
C |
15: 27,025,598 (GRCm39) |
|
noncoding transcript |
Het |
L2hgdh |
G |
A |
12: 69,739,254 (GRCm39) |
R406W |
possibly damaging |
Het |
Lmo7 |
A |
T |
14: 102,118,416 (GRCm39) |
T214S |
probably damaging |
Het |
Map3k12 |
T |
C |
15: 102,411,981 (GRCm39) |
H361R |
probably benign |
Het |
Mios |
T |
C |
6: 8,235,378 (GRCm39) |
|
probably benign |
Het |
Mta1 |
T |
C |
12: 113,093,741 (GRCm39) |
L315P |
probably damaging |
Het |
Pask |
A |
C |
1: 93,238,540 (GRCm39) |
V1315G |
probably damaging |
Het |
Pias4 |
A |
T |
10: 80,999,904 (GRCm39) |
C50S |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Sgk1 |
T |
A |
10: 21,804,445 (GRCm39) |
C92S |
probably benign |
Het |
Slc2a13 |
C |
T |
15: 91,381,712 (GRCm39) |
G259E |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,910,934 (GRCm39) |
C301R |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,770,535 (GRCm39) |
L775Q |
possibly damaging |
Het |
Vmn1r218 |
A |
G |
13: 23,321,174 (GRCm39) |
I94V |
probably benign |
Het |
Xpa |
A |
G |
4: 46,185,682 (GRCm39) |
F99L |
probably benign |
Het |
|
Other mutations in Sstr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01325:Sstr4
|
APN |
2 |
148,237,472 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01536:Sstr4
|
APN |
2 |
148,237,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02210:Sstr4
|
APN |
2 |
148,238,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R0396:Sstr4
|
UTSW |
2 |
148,238,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R1428:Sstr4
|
UTSW |
2 |
148,238,279 (GRCm39) |
missense |
probably benign |
0.01 |
R1839:Sstr4
|
UTSW |
2 |
148,237,453 (GRCm39) |
missense |
probably benign |
0.21 |
R2332:Sstr4
|
UTSW |
2 |
148,238,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R2943:Sstr4
|
UTSW |
2 |
148,238,085 (GRCm39) |
missense |
probably damaging |
0.96 |
R3700:Sstr4
|
UTSW |
2 |
148,238,273 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5502:Sstr4
|
UTSW |
2 |
148,237,471 (GRCm39) |
small insertion |
probably benign |
|
R5503:Sstr4
|
UTSW |
2 |
148,237,471 (GRCm39) |
small insertion |
probably benign |
|
R5596:Sstr4
|
UTSW |
2 |
148,237,652 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5726:Sstr4
|
UTSW |
2 |
148,238,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R6985:Sstr4
|
UTSW |
2 |
148,238,169 (GRCm39) |
missense |
probably damaging |
0.97 |
R8939:Sstr4
|
UTSW |
2 |
148,238,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R8943:Sstr4
|
UTSW |
2 |
148,237,782 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0022:Sstr4
|
UTSW |
2 |
148,237,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |