Incidental Mutation 'R0019:Sstr1'
ID 15516
Institutional Source Beutler Lab
Gene Symbol Sstr1
Ensembl Gene ENSMUSG00000035431
Gene Name somatostatin receptor 1
Synonyms Smstr1, Smstr-1, sst1
MMRRC Submission 038314-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0019 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 58258558-58261230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58259935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 186 (L186S)
Ref Sequence ENSEMBL: ENSMUSP00000106299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044299] [ENSMUST00000110671]
AlphaFold P30873
Predicted Effect probably damaging
Transcript: ENSMUST00000044299
AA Change: L186S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037045
Gene: ENSMUSG00000035431
AA Change: L186S

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:7TM_GPCR_Srx 66 297 4.9e-8 PFAM
Pfam:7TM_GPCR_Srsx 69 338 2.7e-14 PFAM
Pfam:7tm_1 75 323 2.2e-65 PFAM
Pfam:7TM_GPCR_Srv 131 339 1.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110671
AA Change: L186S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106299
Gene: ENSMUSG00000035431
AA Change: L186S

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:7TM_GPCR_Srx 66 299 4.8e-8 PFAM
Pfam:7TM_GPCR_Srsx 69 338 2.7e-14 PFAM
Pfam:7tm_1 75 323 4.1e-70 PFAM
Pfam:7TM_GPCR_Srv 131 339 1.8e-11 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 83.5%
  • 3x: 78.2%
  • 10x: 64.4%
  • 20x: 48.4%
Validation Efficiency 91% (93/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. The protein encoded by this gene is a member of the superfamily of somatostatin receptors having seven transmembrane segments. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This somatostatin receptor has greater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous null mice display abnormal eye electrophysiology. Mice homozygous for a second targeted mutation display hypoactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13a T A 5: 114,924,142 (GRCm39) probably benign Het
Arhgef12 A T 9: 42,889,529 (GRCm39) W1029R probably damaging Het
Aunip T A 4: 134,250,823 (GRCm39) L256* probably null Het
Bahcc1 T A 11: 120,180,597 (GRCm39) M2607K probably damaging Het
Bltp3b A G 10: 89,611,831 (GRCm39) T5A probably damaging Het
Cacng6 G T 7: 3,480,384 (GRCm39) M152I possibly damaging Het
Cep120 A G 18: 53,842,119 (GRCm39) probably benign Het
D130043K22Rik T A 13: 25,064,795 (GRCm39) V737D probably damaging Het
Dock10 A G 1: 80,583,642 (GRCm39) S187P probably damaging Het
Eogt C T 6: 97,111,234 (GRCm39) probably benign Het
Fasn A T 11: 120,698,824 (GRCm39) probably benign Het
Frem2 C T 3: 53,431,099 (GRCm39) V2745M probably damaging Het
Fshb T C 2: 106,887,690 (GRCm39) S110G probably benign Het
Gpi1 A G 7: 33,920,324 (GRCm39) Y144H probably damaging Het
Gsap T C 5: 21,475,620 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc3 T C 6: 58,862,050 (GRCm39) probably benign Het
Il1r2 C T 1: 40,164,210 (GRCm39) T359M probably damaging Het
Il6st T C 13: 112,637,682 (GRCm39) C563R possibly damaging Het
Irs1 T A 1: 82,264,977 (GRCm39) K1080* probably null Het
Itpr1 T C 6: 108,331,587 (GRCm39) V182A probably damaging Het
Kalrn C T 16: 34,018,884 (GRCm39) probably benign Het
Kcnj11 G A 7: 45,748,363 (GRCm39) A320V probably benign Het
Lrig1 T A 6: 94,584,330 (GRCm39) R905* probably null Het
Lrrc43 T C 5: 123,639,378 (GRCm39) L469P probably damaging Het
Med29 A T 7: 28,090,501 (GRCm39) probably benign Het
Mroh7 T C 4: 106,578,623 (GRCm39) I18M probably benign Het
Nalcn A C 14: 123,744,901 (GRCm39) C376G probably benign Het
Ncor2 C T 5: 125,196,545 (GRCm39) probably null Het
Nek1 T A 8: 61,542,768 (GRCm39) M786K probably benign Het
Nrxn2 A G 19: 6,559,987 (GRCm39) probably benign Het
Nxpe2 T C 9: 48,231,080 (GRCm39) I430V probably benign Het
Pcolce2 A G 9: 95,577,017 (GRCm39) probably null Het
Pdcl A T 2: 37,241,932 (GRCm39) L273M probably damaging Het
Pml A T 9: 58,127,776 (GRCm39) S610R probably damaging Het
Polk C A 13: 96,641,124 (GRCm39) R144S probably damaging Het
Rlf A G 4: 121,003,769 (GRCm39) V1737A possibly damaging Het
Rubcnl T A 14: 75,285,703 (GRCm39) probably benign Het
Scn3a A T 2: 65,292,045 (GRCm39) V1567E probably damaging Het
Scyl2 A G 10: 89,495,183 (GRCm39) I296T probably benign Het
Slc15a3 A G 19: 10,833,404 (GRCm39) I474V probably damaging Het
Tmem108 A T 9: 103,366,539 (GRCm39) V484D possibly damaging Het
Trim69 A T 2: 122,004,958 (GRCm39) probably null Het
Trim80 T G 11: 115,338,768 (GRCm39) Y533D probably damaging Het
Unc13b T C 4: 43,096,990 (GRCm39) I121T possibly damaging Het
Usp40 T C 1: 87,906,133 (GRCm39) T701A probably benign Het
Xpr1 A G 1: 155,208,145 (GRCm39) probably benign Het
Ywhab T A 2: 163,858,090 (GRCm39) I219N probably damaging Het
Zfp219 G T 14: 52,246,485 (GRCm39) T169K probably damaging Het
Other mutations in Sstr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Sstr1 APN 12 58,259,536 (GRCm39) missense probably benign
IGL01975:Sstr1 APN 12 58,260,412 (GRCm39) missense probably benign 0.01
R0019:Sstr1 UTSW 12 58,259,935 (GRCm39) missense probably damaging 1.00
R0026:Sstr1 UTSW 12 58,259,644 (GRCm39) missense probably damaging 1.00
R0083:Sstr1 UTSW 12 58,260,528 (GRCm39) missense possibly damaging 0.85
R1218:Sstr1 UTSW 12 58,260,406 (GRCm39) missense possibly damaging 0.68
R1254:Sstr1 UTSW 12 58,260,108 (GRCm39) missense possibly damaging 0.93
R1815:Sstr1 UTSW 12 58,260,264 (GRCm39) missense possibly damaging 0.81
R2318:Sstr1 UTSW 12 58,259,562 (GRCm39) missense possibly damaging 0.77
R4588:Sstr1 UTSW 12 58,260,417 (GRCm39) missense probably benign 0.00
R5041:Sstr1 UTSW 12 58,259,941 (GRCm39) missense possibly damaging 0.94
R6556:Sstr1 UTSW 12 58,260,478 (GRCm39) missense possibly damaging 0.94
R7332:Sstr1 UTSW 12 58,260,172 (GRCm39) missense probably damaging 1.00
R7342:Sstr1 UTSW 12 58,260,456 (GRCm39) missense possibly damaging 0.95
R7380:Sstr1 UTSW 12 58,260,066 (GRCm39) missense probably benign 0.01
R7452:Sstr1 UTSW 12 58,260,142 (GRCm39) missense probably damaging 1.00
R7873:Sstr1 UTSW 12 58,260,313 (GRCm39) missense probably damaging 1.00
R9036:Sstr1 UTSW 12 58,259,569 (GRCm39) missense possibly damaging 0.92
R9095:Sstr1 UTSW 12 58,259,620 (GRCm39) missense probably damaging 1.00
R9726:Sstr1 UTSW 12 58,259,484 (GRCm39) missense probably benign 0.03
Z1176:Sstr1 UTSW 12 58,260,312 (GRCm39) missense possibly damaging 0.72
Posted On 2012-12-21