Incidental Mutation 'R2943:Sstr4'
ID |
255815 |
Institutional Source |
Beutler Lab
|
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 # |
R2943 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
148237297-148238684 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 148238085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 232
(V232A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109962]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109962
AA Change: V232A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105588 Gene: ENSMUSG00000037014 AA Change: V232A
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anln |
A |
G |
9: 22,267,342 (GRCm39) |
|
probably null |
Het |
Aqp12 |
A |
T |
1: 92,934,387 (GRCm39) |
D88V |
probably damaging |
Het |
Armc5 |
A |
C |
7: 127,839,752 (GRCm39) |
N357H |
probably damaging |
Het |
Atad2b |
C |
A |
12: 4,992,067 (GRCm39) |
T222K |
probably damaging |
Het |
Carmil2 |
C |
T |
8: 106,419,564 (GRCm39) |
H815Y |
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,134,438 (GRCm39) |
Y430H |
probably damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,288,004 (GRCm39) |
D83G |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,499,870 (GRCm39) |
D203G |
probably damaging |
Het |
Galnt6 |
G |
T |
15: 100,612,160 (GRCm39) |
|
probably null |
Het |
Gsdmc |
C |
T |
15: 63,675,501 (GRCm39) |
V105I |
possibly damaging |
Het |
Kntc1 |
A |
G |
5: 123,935,847 (GRCm39) |
D1509G |
possibly damaging |
Het |
Lrp10 |
C |
T |
14: 54,707,302 (GRCm39) |
|
probably benign |
Het |
Mcmbp |
A |
T |
7: 128,325,697 (GRCm39) |
L97H |
probably damaging |
Het |
Mfsd2a |
A |
G |
4: 122,842,382 (GRCm39) |
L495P |
possibly damaging |
Het |
Or52s19 |
A |
G |
7: 103,007,658 (GRCm39) |
C248R |
probably damaging |
Het |
Pank4 |
G |
A |
4: 155,055,931 (GRCm39) |
V319I |
probably benign |
Het |
Pde7a |
T |
C |
3: 19,284,489 (GRCm39) |
N365D |
probably damaging |
Het |
Pot1b |
A |
T |
17: 55,981,058 (GRCm39) |
S319T |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,707,415 (GRCm39) |
I276T |
probably damaging |
Het |
Reg1 |
T |
A |
6: 78,405,128 (GRCm39) |
L117Q |
possibly damaging |
Het |
Ripor3 |
T |
C |
2: 167,825,681 (GRCm39) |
H759R |
possibly damaging |
Het |
Rph3al |
A |
T |
11: 75,725,714 (GRCm39) |
|
probably null |
Het |
S1pr4 |
A |
C |
10: 81,334,706 (GRCm39) |
L256R |
probably damaging |
Het |
Tor3a |
G |
A |
1: 156,501,665 (GRCm39) |
P71S |
probably benign |
Het |
Zfp804a |
C |
A |
2: 82,066,223 (GRCm39) |
Q65K |
probably damaging |
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 |
IGL02670:Sstr4
|
APN |
2 |
148,238,453 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCAAGCTAATCAACCTG -3'
(R):5'- ACATGGTTGACAGTGGCATC -3'
Sequencing Primer
(F):5'- CTAATCAACCTGGGAGTGTGGC -3'
(R):5'- TTGACAGTGGCATCGAGGC -3'
|
Posted On |
2014-12-29 |