Incidental Mutation 'IGL01738:Sstr5'
ID 105757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sstr5
Ensembl Gene ENSMUSG00000050824
Gene Name somatostatin receptor 5
Synonyms sst5, Smstr5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # IGL01738
Quality Score
Status
Chromosome 17
Chromosomal Location 25708849-25716262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25710584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 215 (I215N)
Ref Sequence ENSEMBL: ENSMUSP00000128787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051864] [ENSMUST00000165183]
AlphaFold O08858
Predicted Effect probably damaging
Transcript: ENSMUST00000051864
AA Change: I215N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051085
Gene: ENSMUSG00000050824
AA Change: I215N

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
Pfam:7TM_GPCR_Srv 44 320 1.3e-9 PFAM
Pfam:7TM_GPCR_Srx 45 317 5.5e-10 PFAM
Pfam:7TM_GPCR_Srsx 48 318 1.3e-19 PFAM
Pfam:7tm_1 54 303 3.1e-64 PFAM
Pfam:7TM_GPCR_Srw 195 321 1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165183
AA Change: I215N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128787
Gene: ENSMUSG00000050824
AA Change: I215N

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
Pfam:7TM_GPCR_Srv 44 320 1.9e-9 PFAM
Pfam:7TM_GPCR_Srx 45 317 3.5e-10 PFAM
Pfam:7TM_GPCR_Srsx 48 318 1.3e-19 PFAM
Pfam:7tm_1 54 303 1.9e-71 PFAM
Pfam:7TM_GPCR_Srw 195 321 1e-8 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 and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygotes for one null allele display decreased numbers of insulin positive cells in the pancreas. Homozygotes for a second null allele have normal pancreatic islet morphology but increased insulin secretion, decreased blood insulin and glucose levels,and improved glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,436,668 (GRCm39) D288V probably damaging Het
Agtr1a G A 13: 30,565,021 (GRCm39) V29I probably benign Het
Akap6 G T 12: 52,933,600 (GRCm39) C364F probably damaging Het
Calcrl T G 2: 84,200,793 (GRCm39) M84L probably benign Het
Cep128 C A 12: 91,197,616 (GRCm39) G402C probably damaging Het
Cfap43 A G 19: 47,785,624 (GRCm39) L422P probably damaging Het
Cnbd2 C A 2: 156,217,537 (GRCm39) probably benign Het
Col27a1 A G 4: 63,182,016 (GRCm39) probably benign Het
Cyp3a44 A G 5: 145,731,745 (GRCm39) S134P probably damaging Het
Dync2h1 A C 9: 7,114,922 (GRCm39) L179R possibly damaging Het
Ell T A 8: 71,034,331 (GRCm39) probably benign Het
Gfm1 A G 3: 67,363,994 (GRCm39) E490G probably benign Het
Glt1d1 T G 5: 127,709,419 (GRCm39) probably benign Het
Gm10267 A T 18: 44,292,342 (GRCm39) I10K possibly damaging Het
Htra4 A G 8: 25,515,727 (GRCm39) V437A probably damaging Het
Ighv1-69 T C 12: 115,587,061 (GRCm39) Q24R possibly damaging Het
Igkv14-111 G A 6: 68,233,443 (GRCm39) probably benign Het
Ipcef1 A T 10: 6,840,575 (GRCm39) I374N probably damaging Het
Iqgap1 T C 7: 80,373,648 (GRCm39) D1447G possibly damaging Het
Mast4 A G 13: 102,873,749 (GRCm39) F1681S probably damaging Het
Mmp3 A T 9: 7,446,946 (GRCm39) N42I possibly damaging Het
Mybpc1 G T 10: 88,406,507 (GRCm39) F126L probably damaging Het
Myo1e A G 9: 70,266,652 (GRCm39) K631E probably damaging Het
Or8b43 A C 9: 38,360,942 (GRCm39) Y258S probably damaging Het
Pcsk5 T A 19: 17,411,144 (GRCm39) probably benign Het
Serpina3b T G 12: 104,097,091 (GRCm39) L124R probably damaging Het
Srgap2 T C 1: 131,224,164 (GRCm39) I95V probably benign Het
Top3b G A 16: 16,698,468 (GRCm39) V104M probably benign Het
Tspan8 G A 10: 115,653,570 (GRCm39) probably null Het
Vmn2r102 A G 17: 19,898,020 (GRCm39) Y345C probably damaging Het
Vmn2r17 G A 5: 109,577,364 (GRCm39) G472S probably damaging Het
Zmpste24 A T 4: 120,918,308 (GRCm39) L438Q probably damaging Het
Other mutations in Sstr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Sstr5 APN 17 25,710,305 (GRCm39) missense probably damaging 1.00
IGL02212:Sstr5 APN 17 25,710,647 (GRCm39) missense possibly damaging 0.93
IGL03098:Sstr5 UTSW 17 25,710,251 (GRCm39) missense probably benign 0.00
R0402:Sstr5 UTSW 17 25,711,008 (GRCm39) missense probably benign 0.15
R1576:Sstr5 UTSW 17 25,710,272 (GRCm39) missense possibly damaging 0.94
R2354:Sstr5 UTSW 17 25,710,875 (GRCm39) missense probably benign 0.29
R4392:Sstr5 UTSW 17 25,710,198 (GRCm39) missense probably benign
R5339:Sstr5 UTSW 17 25,710,173 (GRCm39) missense probably benign 0.00
R5469:Sstr5 UTSW 17 25,711,043 (GRCm39) missense probably damaging 1.00
R5865:Sstr5 UTSW 17 25,710,218 (GRCm39) missense probably benign 0.30
R9163:Sstr5 UTSW 17 25,710,584 (GRCm39) missense probably damaging 1.00
R9469:Sstr5 UTSW 17 25,710,941 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21