Incidental Mutation 'R7342:Sstr1'
ID 569954
Institutional Source Beutler Lab
Gene Symbol Sstr1
Ensembl Gene ENSMUSG00000035431
Gene Name somatostatin receptor 1
Synonyms Smstr1, Smstr-1, sst1
MMRRC Submission 045432-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 58258558-58261230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58260456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 360 (S360G)
Ref Sequence ENSEMBL: ENSMUSP00000037045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044299] [ENSMUST00000110671]
AlphaFold P30873
Predicted Effect possibly damaging
Transcript: ENSMUST00000044299
AA Change: S360G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037045
Gene: ENSMUSG00000035431
AA Change: S360G

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: S360G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106299
Gene: ENSMUSG00000035431
AA Change: S360G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T G 11: 101,308,018 (GRCm39) T28P probably benign Het
Abcc1 C A 16: 14,283,033 (GRCm39) R1170S probably damaging Het
Adam8 T C 7: 139,566,304 (GRCm39) N568S probably benign Het
Arhgap17 T C 7: 122,926,467 (GRCm39) R65G probably damaging Het
Arid4b A C 13: 14,310,804 (GRCm39) I136L probably benign Het
Ash1l G T 3: 88,873,304 (GRCm39) G29V possibly damaging Het
Atp6v0a2 A G 5: 124,784,676 (GRCm39) T320A probably damaging Het
B4gat1 G A 19: 5,089,686 (GRCm39) V228M probably benign Het
Calcr T A 6: 3,691,536 (GRCm39) H450L probably benign Het
Cand1 A T 10: 119,047,692 (GRCm39) N599K possibly damaging Het
Cblif A T 19: 11,740,587 (GRCm39) H407L probably benign Het
Cel A T 2: 28,450,649 (GRCm39) Y125* probably null Het
Cfi T A 3: 129,668,781 (GRCm39) N602K probably damaging Het
Clstn1 G A 4: 149,713,887 (GRCm39) A190T probably damaging Het
Cmklr1 C T 5: 113,752,354 (GRCm39) V216M probably benign Het
Cntnap5a A G 1: 115,987,852 (GRCm39) T128A probably benign Het
Creld2 A G 15: 88,710,610 (GRCm39) T342A probably benign Het
Ctbp2 T C 7: 132,616,041 (GRCm39) E298G probably damaging Het
Ctsh A T 9: 89,957,040 (GRCm39) E307V probably benign Het
Cxcl10 T A 5: 92,496,029 (GRCm39) D36V probably benign Het
Dgkb A G 12: 38,150,432 (GRCm39) T73A probably benign Het
Dnah3 T G 7: 119,629,208 (GRCm39) E1449A probably damaging Het
Dpp6 T C 5: 27,919,552 (GRCm39) M683T probably benign Het
Foxn4 C A 5: 114,396,760 (GRCm39) W241L probably damaging Het
Gosr1 T C 11: 76,621,033 (GRCm39) I219V probably benign Het
Gtf2f2 T C 14: 76,144,317 (GRCm39) D179G probably damaging Het
Ighg2b A G 12: 113,270,050 (GRCm39) Y323H Het
Itpr2 A T 6: 146,228,685 (GRCm39) H1303Q probably damaging Het
Kif1b A C 4: 149,298,547 (GRCm39) Y1040D possibly damaging Het
Lbr C T 1: 181,653,186 (GRCm39) probably null Het
Lrp2 A G 2: 69,309,634 (GRCm39) V2755A possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Lrrcc1 T A 3: 14,619,431 (GRCm39) C606S probably benign Het
Macf1 T C 4: 123,275,917 (GRCm39) E6217G probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo9b T C 8: 71,808,418 (GRCm39) V1687A probably damaging Het
Naip2 A T 13: 100,325,864 (GRCm39) F15I probably benign Het
Neb A T 2: 52,171,679 (GRCm39) S1605T probably damaging Het
Nuak1 T C 10: 84,210,831 (GRCm39) E419G probably damaging Het
Or14a260 G A 7: 85,985,295 (GRCm39) T103I probably benign Het
Or8c18 A G 9: 38,203,574 (GRCm39) Y111C probably damaging Het
Paip2b T A 6: 83,791,808 (GRCm39) S25C probably damaging Het
Pgbd5 G A 8: 125,160,709 (GRCm39) R53C probably benign Het
Plin4 T C 17: 56,411,608 (GRCm39) T808A probably benign Het
Pramel11 A T 4: 143,623,520 (GRCm39) I218K probably benign Het
Prex2 A G 1: 11,232,549 (GRCm39) D872G probably benign Het
Ptf1a A G 2: 19,451,977 (GRCm39) *325W probably null Het
Ptprg T C 14: 12,237,151 (GRCm38) V1390A possibly damaging Het
Rhpn2 A G 7: 35,033,771 (GRCm39) T2A probably damaging Het
Rpl18a T C 8: 71,348,042 (GRCm39) N214D unknown Het
Scp2 T A 4: 107,948,518 (GRCm39) Y197F probably benign Het
Sftpb G A 6: 72,286,858 (GRCm39) R254H probably benign Het
Slc17a9 T C 2: 180,378,555 (GRCm39) L246P probably damaging Het
Slc38a9 G T 13: 112,806,125 (GRCm39) probably benign Het
Slc4a1ap C T 5: 31,693,634 (GRCm39) L523F possibly damaging Het
Spats2l C A 1: 57,925,106 (GRCm39) T168K possibly damaging Het
Taf1b A T 12: 24,608,343 (GRCm39) K581* probably null Het
Tfip11 T A 5: 112,475,838 (GRCm39) M1K probably null Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Ttc23l G A 15: 10,551,583 (GRCm39) H48Y probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Unc13b T C 4: 43,258,703 (GRCm39) L1346P probably damaging Het
Vmac T C 17: 57,022,644 (GRCm39) E122G probably benign Het
Vmn2r125 T C 4: 156,703,138 (GRCm39) V172A probably damaging Het
Zfp54 A G 17: 21,648,014 (GRCm39) probably benign 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
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
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'- TTTCTACGTGGTACAGCTGGTC -3'
(R):5'- CTGGTGTCGGGTTACCATTC -3'

Sequencing Primer
(F):5'- ACAGCTGGTCAACGTGTTC -3'
(R):5'- GTGTCGGGTTACCATTCCCTCC -3'
Posted On 2019-09-13