Incidental Mutation 'R5469:Sstr5'
ID 433431
Institutional Source Beutler Lab
Gene Symbol Sstr5
Ensembl Gene ENSMUSG00000050824
Gene Name somatostatin receptor 5
Synonyms sst5, Smstr5
MMRRC Submission 043030-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R5469 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 25708849-25716262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25711043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 62 (V62G)
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: V62G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051085
Gene: ENSMUSG00000050824
AA Change: V62G

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: V62G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128787
Gene: ENSMUSG00000050824
AA Change: V62G

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
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc A T 12: 28,605,305 (GRCm39) N331K probably benign Het
Anapc1 G T 2: 128,517,621 (GRCm39) S341* probably null Het
Cacna1e T C 1: 154,319,683 (GRCm39) E1339G probably damaging Het
Cacna2d1 T A 5: 16,557,676 (GRCm39) I702N probably damaging Het
Casp2 C A 6: 42,246,268 (GRCm39) H209N probably benign Het
Casr A G 16: 36,330,392 (GRCm39) V314A probably benign Het
Ccne2 A T 4: 11,201,353 (GRCm39) R294* probably null Het
Cd180 T A 13: 102,841,342 (GRCm39) H129Q probably benign Het
Chst10 A T 1: 38,904,608 (GRCm39) Y362N probably damaging Het
Ctnna1 T A 18: 35,372,573 (GRCm39) D509E probably benign Het
Ctsh G T 9: 89,942,564 (GRCm39) probably null Het
Dhx29 C T 13: 113,081,073 (GRCm39) A369V possibly damaging Het
Enox1 A G 14: 77,830,414 (GRCm39) T340A probably benign Het
Fam135b T A 15: 71,317,892 (GRCm39) T1357S probably benign Het
Flt3 A T 5: 147,291,893 (GRCm39) S544T possibly damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gsap A T 5: 21,495,542 (GRCm39) Y831F possibly damaging Het
Hnrnpr C T 4: 136,046,745 (GRCm39) T142M probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Ktn1 A T 14: 47,928,377 (GRCm39) E579D probably damaging Het
Lama2 G A 10: 26,917,185 (GRCm39) P2247S possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Mphosph10 A T 7: 64,039,193 (GRCm39) probably null Het
Pappa C T 4: 65,123,389 (GRCm39) T908M probably benign Het
Pdcd10 T A 3: 75,428,364 (GRCm39) K150* probably null Het
Piezo2 A T 18: 63,160,935 (GRCm39) I2275N probably damaging Het
Pmvk T C 3: 89,374,989 (GRCm39) probably null Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Prtg A T 9: 72,799,247 (GRCm39) Q759L probably damaging Het
Rad51ap1 C T 6: 126,905,190 (GRCm39) S107N probably damaging Het
Rfk T A 19: 17,372,566 (GRCm39) N29K probably damaging Het
Ror2 T C 13: 53,271,375 (GRCm39) M315V probably benign Het
Rrn3 A G 16: 13,630,964 (GRCm39) E600G probably benign Het
Ryk A G 9: 102,784,153 (GRCm39) Y593C possibly damaging Het
Slc30a3 T A 5: 31,246,004 (GRCm39) D193V probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Srbd1 C A 17: 86,427,370 (GRCm39) C421F possibly damaging Het
Tfip11 G A 5: 112,482,191 (GRCm39) W483* probably null Het
Tlk1 T C 2: 70,552,012 (GRCm39) H553R probably benign Het
Tnc T C 4: 63,932,162 (GRCm39) probably null Het
Trav12-1 A G 14: 53,775,930 (GRCm39) T27A probably damaging Het
Usp9y G A Y: 1,364,714 (GRCm39) T1033I probably benign Het
V1ra8 C T 6: 90,180,186 (GRCm39) H130Y probably benign Het
Vmn2r77 A T 7: 86,451,271 (GRCm39) M386L probably benign Het
Other mutations in Sstr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Sstr5 APN 17 25,710,305 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GACCATCAGGCAGAAGATACTG -3'
(R):5'- ATCCTGAACCTGACAGCATGG -3'

Sequencing Primer
(F):5'- AAGATACTGGTGAACTGGTTGATGC -3'
(R):5'- GCATGGAGCCCCTCTCTTTG -3'
Posted On 2016-10-06