Incidental Mutation 'IGL00160:Sstr1'
ID 1082
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sstr1
Ensembl Gene ENSMUSG00000035431
Gene Name somatostatin receptor 1
Synonyms Smstr1, Smstr-1, sst1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00160
Quality Score
Status
Chromosome 12
Chromosomal Location 58258558-58261230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58259536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 53 (E53G)
Ref Sequence ENSEMBL: ENSMUSP00000106299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044299] [ENSMUST00000110671]
AlphaFold P30873
Predicted Effect probably benign
Transcript: ENSMUST00000044299
AA Change: E53G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037045
Gene: ENSMUSG00000035431
AA Change: E53G

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: E53G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106299
Gene: ENSMUSG00000035431
AA Change: E53G

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,563,219 (GRCm39) A387V probably benign Het
Adamts3 C T 5: 90,009,184 (GRCm39) V160I probably damaging Het
Arhgef26 T C 3: 62,247,804 (GRCm39) V296A probably benign Het
Bdp1 A T 13: 100,197,706 (GRCm39) M893K probably benign Het
Camk2d T A 3: 126,631,921 (GRCm39) C407* probably null Het
Ces1h T C 8: 94,084,091 (GRCm39) D373G probably benign Het
Ces2f A T 8: 105,676,605 (GRCm39) N100Y probably damaging Het
Ces2f A T 8: 105,676,604 (GRCm39) Q99H probably damaging Het
Dlg5 T C 14: 24,241,229 (GRCm39) T223A probably damaging Het
Dnai7 T A 6: 145,121,016 (GRCm39) H601L probably benign Het
Dnmt3l A G 10: 77,893,189 (GRCm39) D322G probably damaging Het
Fam243 T C 16: 92,117,890 (GRCm39) K133E possibly damaging Het
Fbxl20 C T 11: 97,981,500 (GRCm39) G396D possibly damaging Het
Garre1 G A 7: 33,938,431 (GRCm39) H1035Y possibly damaging Het
Gldc T C 19: 30,092,640 (GRCm39) T760A probably damaging Het
Gm6483 T A 8: 19,741,663 (GRCm39) noncoding transcript Het
Hcrtr2 A T 9: 76,135,437 (GRCm39) V460D possibly damaging Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mrgpra2a A T 7: 47,076,286 (GRCm39) M324K probably damaging Het
N4bp3 C T 11: 51,536,143 (GRCm39) A230T probably benign Het
Nphs1 T G 7: 30,181,976 (GRCm39) W1204G possibly damaging Het
Obscn C A 11: 58,892,883 (GRCm39) A6788S probably benign Het
Ofcc1 T C 13: 40,296,280 (GRCm39) D518G probably damaging Het
Optc T C 1: 133,829,846 (GRCm39) Y188C probably damaging Het
Prss45 C A 9: 110,670,073 (GRCm39) A285E probably damaging Het
Rcan2 C T 17: 44,347,960 (GRCm39) T223I possibly damaging Het
Snrnp70 A G 7: 45,026,778 (GRCm39) probably null Het
Sorbs1 T A 19: 40,306,473 (GRCm39) T1064S probably damaging Het
Sptb T C 12: 76,669,943 (GRCm39) K462E probably damaging Het
Stxbp2 A T 8: 3,686,354 (GRCm39) probably null Het
Tex35 G A 1: 156,927,326 (GRCm39) probably benign Het
Thnsl1 T C 2: 21,217,260 (GRCm39) F338S possibly damaging Het
Trpv1 C T 11: 73,151,188 (GRCm39) A424V probably damaging Het
Unc80 A T 1: 66,693,554 (GRCm39) H2535L possibly damaging Het
Usp46 T C 5: 74,163,347 (GRCm39) E333G probably null Het
Vmn1r27 T C 6: 58,192,119 (GRCm39) Y245C probably benign Het
Zfp488 T C 14: 33,693,026 (GRCm39) M46V probably benign Het
Zfp566 G T 7: 29,777,936 (GRCm39) Q82K probably benign Het
Znhit6 T C 3: 145,283,915 (GRCm39) S62P probably damaging Het
Znrf3 T C 11: 5,239,039 (GRCm39) H108R probably damaging Het
Other mutations in Sstr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2011-07-12