Incidental Mutation 'R0026:Sstr1'
ID 64502
Institutional Source Beutler Lab
Gene Symbol Sstr1
Ensembl Gene ENSMUSG00000035431
Gene Name somatostatin receptor 1
Synonyms Smstr-1, sst1, Smstr1
MMRRC Submission 038321-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0026 (G1)
Quality Score 86
Status Validated
Chromosome 12
Chromosomal Location 58211772-58214444 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58212858 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 89 (M89K)
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: M89K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037045
Gene: ENSMUSG00000035431
AA Change: M89K

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: M89K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106299
Gene: ENSMUSG00000035431
AA Change: M89K

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 0.5499 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 93% (70/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 138,066,805 (GRCm38) I585N possibly damaging Het
4931408C20Rik T A 1: 26,683,369 (GRCm38) D910V probably benign Het
A830005F24Rik C T 13: 48,514,372 (GRCm38) probably benign Het
Abca16 C T 7: 120,477,923 (GRCm38) probably benign Het
Acot10 G A 15: 20,666,236 (GRCm38) L140F probably benign Het
Adam19 G T 11: 46,136,259 (GRCm38) C573F probably damaging Het
Aff3 A G 1: 38,203,893 (GRCm38) S948P probably benign Het
Anxa3 T A 5: 96,838,401 (GRCm38) Y300N probably benign Het
BC016579 T C 16: 45,640,367 (GRCm38) T113A probably benign Het
Bmpr1b A G 3: 141,870,733 (GRCm38) L113P probably benign Het
Casq1 T C 1: 172,219,400 (GRCm38) probably benign Het
Cdc16 T A 8: 13,759,130 (GRCm38) probably null Het
Cep135 C T 5: 76,606,734 (GRCm38) R353* probably null Het
Cma1 A T 14: 55,942,164 (GRCm38) C188S probably damaging Het
Csf3r A G 4: 126,031,884 (GRCm38) T151A probably benign Het
Cyp4b1 C T 4: 115,647,521 (GRCm38) G56D possibly damaging Het
Dbn1 T C 13: 55,477,784 (GRCm38) E275G probably damaging Het
Dlgap2 C T 8: 14,727,363 (GRCm38) Q203* probably null Het
Ephb3 A G 16: 21,214,917 (GRCm38) D251G probably damaging Het
Fancd2os G T 6: 113,597,691 (GRCm38) T118N probably damaging Het
Gm10801 T C 2: 98,663,909 (GRCm38) probably benign Het
Got1l1 C T 8: 27,200,248 (GRCm38) V132I probably benign Het
H2-M9 T C 17: 36,641,527 (GRCm38) probably benign Het
Ibtk A G 9: 85,690,303 (GRCm38) V1278A probably benign Het
Kctd3 T C 1: 188,976,621 (GRCm38) T519A probably damaging Het
Lgsn T A 1: 31,203,443 (GRCm38) V202D probably damaging Het
Madd A G 2: 91,175,708 (GRCm38) F381L possibly damaging Het
Map1s G A 8: 70,914,638 (GRCm38) G729D probably damaging Het
Mlycd A G 8: 119,410,435 (GRCm38) I465V probably benign Het
Mrgprb1 T C 7: 48,447,204 (GRCm38) R108G possibly damaging Het
Mrgprx2 T A 7: 48,482,023 (GRCm38) H106L possibly damaging Het
Ncor1 T C 11: 62,438,429 (GRCm38) Y6C probably damaging Het
Nfkb1 T C 3: 135,591,573 (GRCm38) D773G probably damaging Het
Nxnl1 A G 8: 71,566,573 (GRCm38) S3P probably damaging Het
Olfr109 T A 17: 37,466,803 (GRCm38) V199D probably damaging Het
Olfr921 G A 9: 38,775,596 (GRCm38) V114I probably benign Het
Otud7a T C 7: 63,735,801 (GRCm38) F338L probably benign Het
Pdcl3 T A 1: 38,991,280 (GRCm38) L14Q probably damaging Het
Pla2g7 T A 17: 43,594,930 (GRCm38) probably benign Het
Prpf31 T A 7: 3,639,668 (GRCm38) N413K probably benign Het
Rapgef5 T C 12: 117,689,161 (GRCm38) S307P probably benign Het
Relt C A 7: 100,850,221 (GRCm38) E164* probably null Het
Rnf185 T C 11: 3,426,617 (GRCm38) D86G probably damaging Het
Rrm2b T C 15: 37,953,741 (GRCm38) E21G probably benign Het
Scn5a A G 9: 119,522,566 (GRCm38) I783T probably damaging Het
Senp1 T C 15: 98,076,668 (GRCm38) R88G probably damaging Het
Skint5 A T 4: 113,546,468 (GRCm38) probably benign Het
Slc35b1 T C 11: 95,390,642 (GRCm38) S294P probably benign Het
Slc5a2 T A 7: 128,270,053 (GRCm38) I335N probably damaging Het
Szt2 A T 4: 118,384,772 (GRCm38) S1612R possibly damaging Het
Taf1c T C 8: 119,604,236 (GRCm38) probably null Het
Taf1d T A 9: 15,308,648 (GRCm38) S64R probably damaging Het
Tmem125 A G 4: 118,542,073 (GRCm38) S54P possibly damaging Het
Ttf1 T A 2: 29,071,349 (GRCm38) I583N possibly damaging Het
Uchl4 A T 9: 64,235,371 (GRCm38) probably null Het
Unc5b A T 10: 60,774,592 (GRCm38) I482N possibly damaging Het
Unc80 C A 1: 66,521,584 (GRCm38) Q824K probably benign Het
Utrn T C 10: 12,726,196 (GRCm38) probably benign Het
Vmn2r61 T G 7: 42,275,474 (GRCm38) I484R possibly damaging Het
Vps13b T C 15: 35,923,301 (GRCm38) I3774T possibly damaging Het
Yipf1 T A 4: 107,345,160 (GRCm38) L240* probably null Het
Other mutations in Sstr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Sstr1 APN 12 58,212,750 (GRCm38) missense probably benign
IGL01975:Sstr1 APN 12 58,213,626 (GRCm38) missense probably benign 0.01
R0019:Sstr1 UTSW 12 58,213,149 (GRCm38) missense probably damaging 1.00
R0019:Sstr1 UTSW 12 58,213,149 (GRCm38) missense probably damaging 1.00
R0083:Sstr1 UTSW 12 58,213,742 (GRCm38) missense possibly damaging 0.85
R1218:Sstr1 UTSW 12 58,213,620 (GRCm38) missense possibly damaging 0.68
R1254:Sstr1 UTSW 12 58,213,322 (GRCm38) missense possibly damaging 0.93
R1815:Sstr1 UTSW 12 58,213,478 (GRCm38) missense possibly damaging 0.81
R2318:Sstr1 UTSW 12 58,212,776 (GRCm38) missense possibly damaging 0.77
R4588:Sstr1 UTSW 12 58,213,631 (GRCm38) missense probably benign 0.00
R5041:Sstr1 UTSW 12 58,213,155 (GRCm38) missense possibly damaging 0.94
R6556:Sstr1 UTSW 12 58,213,692 (GRCm38) missense possibly damaging 0.94
R7332:Sstr1 UTSW 12 58,213,386 (GRCm38) missense probably damaging 1.00
R7342:Sstr1 UTSW 12 58,213,670 (GRCm38) missense possibly damaging 0.95
R7380:Sstr1 UTSW 12 58,213,280 (GRCm38) missense probably benign 0.01
R7452:Sstr1 UTSW 12 58,213,356 (GRCm38) missense probably damaging 1.00
R7873:Sstr1 UTSW 12 58,213,527 (GRCm38) missense probably damaging 1.00
R9036:Sstr1 UTSW 12 58,212,783 (GRCm38) missense possibly damaging 0.92
R9095:Sstr1 UTSW 12 58,212,834 (GRCm38) missense probably damaging 1.00
R9726:Sstr1 UTSW 12 58,212,698 (GRCm38) missense probably benign 0.03
Z1176:Sstr1 UTSW 12 58,213,526 (GRCm38) missense possibly damaging 0.72
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-08-06