Incidental Mutation 'IGL01975:Sstr1'
ID182627
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sstr1
Ensembl Gene ENSMUSG00000035431
Gene Namesomatostatin receptor 1
SynonymsSmstr-1, sst1, Smstr1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01975
Quality Score
Status
Chromosome12
Chromosomal Location58211772-58214444 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58213626 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 345 (N345S)
Ref Sequence ENSEMBL: ENSMUSP00000106299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044299] [ENSMUST00000110671]
Predicted Effect probably benign
Transcript: ENSMUST00000044299
AA Change: N345S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000037045
Gene: ENSMUSG00000035431
AA Change: N345S

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 benign
Transcript: ENSMUST00000110671
AA Change: N345S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000106299
Gene: ENSMUSG00000035431
AA Change: N345S

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
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C T 5: 8,167,396 C133Y probably damaging Het
Akap3 G T 6: 126,874,000 S827I probably damaging Het
Arhgap20 C T 9: 51,849,797 Q947* probably null Het
Csf2rb2 A G 15: 78,288,886 I258T probably benign Het
Egln2 T C 7: 27,160,320 I323V possibly damaging Het
Erlin1 C A 19: 44,036,931 G348V probably damaging Het
Fbxo38 C T 18: 62,515,413 A685T probably damaging Het
Gm10272 G A 10: 77,706,774 C50Y probably damaging Het
Gm11559 G T 11: 99,864,856 Q110H unknown Het
Gpr75 T C 11: 30,891,835 S247P probably benign Het
Grid1 A T 14: 35,323,426 M409L probably benign Het
Herc3 A C 6: 58,916,576 D941A possibly damaging Het
Ilf3 T A 9: 21,392,379 S166T probably benign Het
Kcnu1 A C 8: 25,934,497 E273D probably benign Het
Kdm8 A G 7: 125,452,357 S41G probably benign Het
Ldlr G A 9: 21,733,697 V174I probably benign Het
Lpar5 T C 6: 125,081,787 L157P probably damaging Het
Mcrs1 A G 15: 99,243,678 probably null Het
Ndst3 T A 3: 123,601,514 Y489F possibly damaging Het
Olfr822 A G 10: 130,075,270 I287V probably damaging Het
Palmd A T 3: 116,923,634 S405T probably benign Het
Ptger1 T C 8: 83,669,520 probably benign Het
Rbp3 A T 14: 33,958,645 K1068M probably damaging Het
Rimbp2 T C 5: 128,797,648 D293G probably benign Het
Rnf20 T A 4: 49,654,473 D843E probably benign Het
Rxfp1 A G 3: 79,660,078 S322P possibly damaging Het
Slc22a8 T A 19: 8,605,411 I152N probably damaging Het
Slc6a21 T A 7: 45,287,851 D268E probably benign Het
Stx17 T C 4: 48,180,670 S172P probably damaging Het
Syne1 A G 10: 5,068,908 probably benign Het
Tpte A G 8: 22,349,337 T467A probably damaging Het
Trappc12 A G 12: 28,692,492 probably null Het
Trav13-2 A T 14: 53,635,366 T100S possibly damaging Het
Trip12 A G 1: 84,814,813 probably benign Het
Wdr36 A G 18: 32,852,488 H486R probably damaging Het
Zswim5 T C 4: 116,965,692 I453T probably benign Het
Other mutations in Sstr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Sstr1 APN 12 58212750 missense probably benign
R0019:Sstr1 UTSW 12 58213149 missense probably damaging 1.00
R0019:Sstr1 UTSW 12 58213149 missense probably damaging 1.00
R0026:Sstr1 UTSW 12 58212858 missense probably damaging 1.00
R0083:Sstr1 UTSW 12 58213742 missense possibly damaging 0.85
R1218:Sstr1 UTSW 12 58213620 missense possibly damaging 0.68
R1254:Sstr1 UTSW 12 58213322 missense possibly damaging 0.93
R1815:Sstr1 UTSW 12 58213478 missense possibly damaging 0.81
R2318:Sstr1 UTSW 12 58212776 missense possibly damaging 0.77
R4588:Sstr1 UTSW 12 58213631 missense probably benign 0.00
R5041:Sstr1 UTSW 12 58213155 missense possibly damaging 0.94
R6556:Sstr1 UTSW 12 58213692 missense possibly damaging 0.94
R7332:Sstr1 UTSW 12 58213386 missense probably damaging 1.00
R7342:Sstr1 UTSW 12 58213670 missense possibly damaging 0.95
R7380:Sstr1 UTSW 12 58213280 missense probably benign 0.01
R7452:Sstr1 UTSW 12 58213356 missense probably damaging 1.00
R7873:Sstr1 UTSW 12 58213527 missense probably damaging 1.00
R7956:Sstr1 UTSW 12 58213527 missense probably damaging 1.00
Z1176:Sstr1 UTSW 12 58213526 missense possibly damaging 0.72
Posted On2014-05-07