Incidental Mutation 'R1218:Sstr1'
ID 99842
Institutional Source Beutler Lab
Gene Symbol Sstr1
Ensembl Gene ENSMUSG00000035431
Gene Name somatostatin receptor 1
Synonyms Smstr1, Smstr-1, sst1
MMRRC Submission 039287-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1218 (G1)
Quality Score 210
Status Not validated
Chromosome 12
Chromosomal Location 58258558-58261230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58260406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 343 (M343K)
Ref Sequence ENSEMBL: ENSMUSP00000106299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044299] [ENSMUST00000110671]
AlphaFold P30873
Predicted Effect possibly damaging
Transcript: ENSMUST00000044299
AA Change: M343K

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037045
Gene: ENSMUSG00000035431
AA Change: M343K

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 possibly damaging
Transcript: ENSMUST00000110671
AA Change: M343K

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106299
Gene: ENSMUSG00000035431
AA Change: M343K

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
  • 1x: 99.2%
  • 3x: 97.9%
  • 10x: 93.3%
  • 20x: 80.5%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C T 15: 81,948,353 (GRCm39) T750I probably benign Het
5330417H12Rik T C 7: 107,224,024 (GRCm39) probably benign Het
9230109A22Rik C T 15: 25,139,024 (GRCm39) noncoding transcript Het
Ahnak A G 19: 8,992,983 (GRCm39) K4756E probably damaging Het
Ano5 A T 7: 51,220,169 (GRCm39) probably null Het
Bmp6 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 13: 38,530,226 (GRCm39) probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cbfa2t2 A T 2: 154,365,839 (GRCm39) M350L probably benign Het
Ceacam20 A T 7: 19,710,022 (GRCm39) M349L probably benign Het
Cfap91 A G 16: 38,118,495 (GRCm39) V768A probably benign Het
Chd1 G T 17: 15,945,574 (GRCm39) G33C probably damaging Het
Dhx40 A G 11: 86,690,310 (GRCm39) V237A probably benign Het
Dlst G T 12: 85,170,638 (GRCm39) D256Y probably damaging Het
Dmxl1 T A 18: 50,026,678 (GRCm39) S1929T probably damaging Het
Exosc10 T A 4: 148,654,858 (GRCm39) I551N probably damaging Het
Faap100 T C 11: 120,269,166 (GRCm39) D91G probably benign Het
Fbn1 T G 2: 125,254,669 (GRCm39) Q198P possibly damaging Het
Flrt2 A G 12: 95,745,727 (GRCm39) I22V probably benign Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
H2bc3 A G 13: 23,931,142 (GRCm39) Y122C probably benign Het
Inava A T 1: 136,142,140 (GRCm39) V653E probably damaging Het
Kcnn1 T C 8: 71,305,332 (GRCm39) I293V probably benign Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Mcpt9 G T 14: 56,266,125 (GRCm39) Y34* probably null Het
Mepe A T 5: 104,474,939 (GRCm39) M7L probably benign Het
Mprip A G 11: 59,634,640 (GRCm39) Y383C probably damaging Het
Mtrex G A 13: 113,054,156 (GRCm39) A159V probably damaging Het
Myh2 A T 11: 67,083,351 (GRCm39) D1438V probably damaging Het
Napb T C 2: 148,542,345 (GRCm39) Y205C probably damaging Het
Odf2l A G 3: 144,854,693 (GRCm39) D510G probably damaging Het
Olfml2b A G 1: 170,477,351 (GRCm39) D162G probably damaging Het
Oscp1 T C 4: 125,952,532 (GRCm39) V20A probably benign Het
Pcdhb10 T C 18: 37,546,214 (GRCm39) L430P probably damaging Het
Polq A G 16: 36,849,808 (GRCm39) D354G possibly damaging Het
Rims1 C A 1: 22,522,256 (GRCm39) V481F probably damaging Het
Ryr1 A G 7: 28,785,534 (GRCm39) I1719T possibly damaging Het
Smtn T C 11: 3,480,021 (GRCm39) H400R probably benign Het
Snx33 A G 9: 56,833,269 (GRCm39) Y267H probably damaging Het
Stx6 T C 1: 155,077,737 (GRCm39) V248A probably benign Het
Tbx5 C T 5: 119,976,785 (GRCm39) L58F probably damaging Het
Tmem241 A G 18: 12,197,271 (GRCm39) Y186H probably damaging Het
Tnfaip8l3 T C 9: 53,934,760 (GRCm39) K72E probably damaging Het
Trrap T A 5: 144,753,219 (GRCm39) I1848N probably damaging Het
Xrcc6 G A 15: 81,907,142 (GRCm39) V155I probably benign Het
Zfp458 T C 13: 67,404,273 (GRCm39) E722G probably damaging Het
Zfyve1 G T 12: 83,594,825 (GRCm39) H722Q possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TAGCCTGCAACATGCTCATGCC -3'
(R):5'- TGTCATGCACTATGACTTCAGCACC -3'

Sequencing Primer
(F):5'- GCTCATCATTGCCAAGATGCG -3'
(R):5'- GGTGTCGGGTTACCATTCC -3'
Posted On 2014-01-15