Incidental Mutation 'IGL01532:Sstr5'
ID 89801
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 # IGL01532
Quality Score
Status
Chromosome 17
Chromosomal Location 25708849-25716262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25710305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 308 (D308G)
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: D308G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051085
Gene: ENSMUSG00000050824
AA Change: D308G

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: D308G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128787
Gene: ENSMUSG00000050824
AA Change: D308G

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,558,349 (GRCm39) N264K probably damaging Het
Adgrl3 C T 5: 81,842,416 (GRCm39) T260I probably damaging Het
Ambra1 G T 2: 91,715,977 (GRCm39) K769N probably damaging Het
Arel1 A G 12: 84,980,936 (GRCm39) V357A possibly damaging Het
Atp11b T A 3: 35,903,651 (GRCm39) C76* probably null Het
AW112010 C A 19: 11,025,433 (GRCm39) noncoding transcript Het
Bfar A T 16: 13,505,251 (GRCm39) probably benign Het
Ccdc70 T G 8: 22,463,299 (GRCm39) L30V probably damaging Het
Cep20 A G 16: 14,122,375 (GRCm39) S130P probably benign Het
Chrm5 C T 2: 112,309,577 (GRCm39) R513Q probably benign Het
Crem G A 18: 3,276,732 (GRCm39) T7I probably benign Het
Cyp4f39 C T 17: 32,689,928 (GRCm39) probably benign Het
Dlg5 T C 14: 24,208,660 (GRCm39) T849A probably benign Het
Dock8 G T 19: 25,146,805 (GRCm39) G1428V probably damaging Het
Eomes T C 9: 118,311,317 (GRCm39) I380T probably damaging Het
Fam13a T C 6: 58,917,280 (GRCm39) D532G probably damaging Het
Gm10061 G T 16: 88,948,190 (GRCm39) *55L probably null Het
Gm27438 T G 2: 87,083,269 (GRCm39) probably benign Het
Gpalpp1 T C 14: 76,339,942 (GRCm39) K124E probably benign Het
Hgs T A 11: 120,368,335 (GRCm39) probably null Het
Hpn T A 7: 30,802,938 (GRCm39) M121L possibly damaging Het
Il1r1 T C 1: 40,334,088 (GRCm39) probably null Het
Jag2 A T 12: 112,877,983 (GRCm39) C583S probably damaging Het
Katnal2 T C 18: 77,099,696 (GRCm39) H146R probably benign Het
Ldah T C 12: 8,270,596 (GRCm39) probably benign Het
Lvrn T A 18: 47,033,551 (GRCm39) Y921N probably damaging Het
Muc5b A G 7: 141,423,743 (GRCm39) Y4572C possibly damaging Het
Myo16 A G 8: 10,450,551 (GRCm39) S518G probably benign Het
Ncf1 T C 5: 134,255,447 (GRCm39) N148S probably benign Het
Nes T G 3: 87,885,654 (GRCm39) D1260E possibly damaging Het
Nup210 C A 6: 91,062,981 (GRCm39) probably benign Het
Or52b4i T C 7: 102,191,863 (GRCm39) L240P probably damaging Het
Rnf31 C A 14: 55,840,080 (GRCm39) Q968K probably damaging Het
Ros1 A G 10: 51,967,034 (GRCm39) probably benign Het
Ryk T C 9: 102,774,465 (GRCm39) Y400H probably benign Het
Slc4a5 T A 6: 83,250,022 (GRCm39) probably null Het
Sptssb A G 3: 69,728,202 (GRCm39) probably benign Het
Taf2 A G 15: 54,912,882 (GRCm39) W493R possibly damaging Het
Vmn2r28 T A 7: 5,489,463 (GRCm39) I459L probably benign Het
Vti1b A C 12: 79,211,912 (GRCm39) L1W probably null Het
Wdr1 T C 5: 38,692,530 (GRCm39) Y125C probably damaging Het
Other mutations in Sstr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01738:Sstr5 APN 17 25,710,584 (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 2013-12-03