Incidental Mutation 'R6247:Sstr3'
ID 505731
Institutional Source Beutler Lab
Gene Symbol Sstr3
Ensembl Gene ENSMUSG00000044933
Gene Name somatostatin receptor 3
Synonyms Smstr-3, Smstr3, sst3
MMRRC Submission 044366-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6247 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 78421208-78428885 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78423788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 320 (I320F)
Ref Sequence ENSEMBL: ENSMUSP00000058040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053239] [ENSMUST00000230400]
AlphaFold P30935
Predicted Effect probably damaging
Transcript: ENSMUST00000053239
AA Change: I320F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058040
Gene: ENSMUSG00000044933
AA Change: I320F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 53 291 1.9e-8 PFAM
Pfam:7TM_GPCR_Srsx 56 337 3.5e-15 PFAM
Pfam:7tm_1 62 322 6.3e-60 PFAM
Pfam:7TM_GPCR_Srv 121 337 9.5e-8 PFAM
coiled coil region 355 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000230400
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the somatostatin receptor protein family. 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. 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 protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,049,768 (GRCm39) D871G probably benign Het
A4galt G T 15: 83,112,020 (GRCm39) H254Q probably damaging Het
AA986860 C A 1: 130,670,780 (GRCm39) T334K possibly damaging Het
Abca13 T C 11: 9,353,874 (GRCm39) I3732T probably benign Het
Abcf1 C T 17: 36,271,956 (GRCm39) D353N probably damaging Het
Adss1 A G 12: 112,594,790 (GRCm39) H83R probably damaging Het
Amer2 C A 14: 60,616,321 (GRCm39) A172E probably damaging Het
Ankhd1 A G 18: 36,787,199 (GRCm39) T2300A probably benign Het
Ano5 G A 7: 51,215,879 (GRCm39) probably null Het
Apob G A 12: 8,051,801 (GRCm39) G1109D probably damaging Het
Arhgef26 A T 3: 62,288,381 (GRCm39) N484Y probably damaging Het
C6 A G 15: 4,793,023 (GRCm39) D376G probably damaging Het
Caml T C 13: 55,772,986 (GRCm39) probably null Het
Capn12 T C 7: 28,588,077 (GRCm39) L473S probably benign Het
Cdk6 G A 5: 3,394,553 (GRCm39) probably null Het
Cers5 A T 15: 99,643,805 (GRCm39) C153S probably benign Het
Cfap206 T C 4: 34,692,530 (GRCm39) M499V probably benign Het
Chd6 A G 2: 160,791,968 (GRCm39) M2463T probably damaging Het
Chn1 T C 2: 73,537,350 (GRCm39) E58G possibly damaging Het
Clec4a1 T C 6: 122,905,001 (GRCm39) V100A probably benign Het
Col7a1 G C 9: 108,810,130 (GRCm39) probably benign Het
Csmd1 A G 8: 16,246,249 (GRCm39) V1050A possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd5a A T 7: 109,497,889 (GRCm39) C1044S probably damaging Het
Dnah7b A G 1: 46,265,048 (GRCm39) T2181A probably benign Het
Dnai1 T C 4: 41,605,775 (GRCm39) V255A probably benign Het
Dync2h1 A G 9: 7,135,078 (GRCm39) C1518R probably damaging Het
Dysf T C 6: 84,043,981 (GRCm39) V273A probably damaging Het
Eif1 C T 11: 100,211,223 (GRCm39) probably benign Het
Eml3 T C 19: 8,908,313 (GRCm39) I58T probably benign Het
Fam171b T A 2: 83,709,552 (GRCm39) I408N probably damaging Het
Fchsd2 A G 7: 100,902,747 (GRCm39) E351G probably benign Het
Focad G A 4: 88,325,377 (GRCm39) A81T possibly damaging Het
Fpr-rs4 G A 17: 18,242,748 (GRCm39) V252I probably benign Het
Fryl A G 5: 73,222,824 (GRCm39) L1919P probably damaging Het
Gm12185 C T 11: 48,806,735 (GRCm39) R152H probably damaging Het
Gm14410 C T 2: 176,885,517 (GRCm39) G249E probably damaging Het
Gm6685 A T 11: 28,289,706 (GRCm39) S37T possibly damaging Het
Greb1 G A 12: 16,766,676 (GRCm39) P374L probably damaging Het
Hdac4 A T 1: 91,940,560 (GRCm39) probably null Het
Hecw1 A T 13: 14,409,010 (GRCm39) L1099* probably null Het
Hivep1 T C 13: 42,310,966 (GRCm39) S1069P probably benign Het
Itgad T C 7: 127,784,959 (GRCm39) I288T possibly damaging Het
Kif9 A G 9: 110,317,612 (GRCm39) M96V possibly damaging Het
Kncn T A 4: 115,741,987 (GRCm39) V18E probably damaging Het
Lrrc74a G A 12: 86,805,330 (GRCm39) G384D probably damaging Het
Ltb4r2 T C 14: 56,000,108 (GRCm39) V243A probably damaging Het
Mtnr1b T A 9: 15,774,082 (GRCm39) I326L probably benign Het
Mylip C T 13: 45,561,957 (GRCm39) T253I probably damaging Het
Necap1 T A 6: 122,857,611 (GRCm39) probably null Het
Nedd4 C T 9: 72,633,720 (GRCm39) P409S probably damaging Het
Npat A T 9: 53,456,538 (GRCm39) E36D probably damaging Het
Ovch2 C T 7: 107,384,648 (GRCm39) V490M probably damaging Het
Pax9 T C 12: 56,756,480 (GRCm39) S273P probably benign Het
Plce1 A G 19: 38,734,289 (GRCm39) E1563G probably damaging Het
Podxl2 C A 6: 88,826,299 (GRCm39) G336* probably null Het
Prdm1 A G 10: 44,322,782 (GRCm39) probably null Het
Psme4 T C 11: 30,803,245 (GRCm39) I29T possibly damaging Het
Ptprd A T 4: 75,984,528 (GRCm39) D780E probably benign Het
Retsat T C 6: 72,581,918 (GRCm39) M294T probably benign Het
Robo2 A T 16: 73,764,672 (GRCm39) V652D probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Serpinb3d G T 1: 107,010,490 (GRCm39) T66K probably benign Het
Setd1b A T 5: 123,296,461 (GRCm39) probably benign Het
Slc7a10 G T 7: 34,886,012 (GRCm39) A36S possibly damaging Het
Syne1 G T 10: 5,299,071 (GRCm39) A1005E probably damaging Het
Syngap1 C A 17: 27,181,931 (GRCm39) S975* probably null Het
Tinagl1 C T 4: 130,066,725 (GRCm39) C124Y probably null Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Tmed2 T A 5: 124,685,055 (GRCm39) I68K possibly damaging Het
Tmem104 A G 11: 115,134,819 (GRCm39) T451A probably benign Het
Tmem141 T C 2: 25,511,693 (GRCm39) probably null Het
Tmem184a C A 5: 139,798,827 (GRCm39) V41L probably benign Het
Tmem39b C T 4: 129,580,584 (GRCm39) V303I possibly damaging Het
Tsn T C 1: 118,232,939 (GRCm39) I122V probably benign Het
Ttc41 G T 10: 86,612,527 (GRCm39) V1267L probably benign Het
Uggt1 A T 1: 36,202,309 (GRCm39) L1096Q probably damaging Het
Usp50 A T 2: 126,617,713 (GRCm39) I244N probably benign Het
Vil1 A G 1: 74,471,498 (GRCm39) S760G probably benign Het
Wasf1 T A 10: 40,813,741 (GRCm39) V541E unknown Het
Zc3h13 G T 14: 75,581,176 (GRCm39) S1721I probably benign Het
Zfp180 G T 7: 23,804,530 (GRCm39) K316N probably damaging Het
Zfp582 T C 7: 6,356,945 (GRCm39) C253R probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp759 A G 13: 67,288,524 (GRCm39) T692A probably benign Het
Zfyve26 A G 12: 79,329,758 (GRCm39) V476A probably benign Het
Other mutations in Sstr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Sstr3 APN 15 78,424,667 (GRCm39) missense probably benign 0.00
R0442:Sstr3 UTSW 15 78,424,597 (GRCm39) missense probably damaging 0.99
R1714:Sstr3 UTSW 15 78,424,473 (GRCm39) missense probably damaging 1.00
R1865:Sstr3 UTSW 15 78,424,168 (GRCm39) missense probably damaging 1.00
R2008:Sstr3 UTSW 15 78,424,711 (GRCm39) missense probably benign 0.14
R2351:Sstr3 UTSW 15 78,424,121 (GRCm39) missense probably benign 0.01
R3023:Sstr3 UTSW 15 78,424,187 (GRCm39) missense probably damaging 0.99
R3024:Sstr3 UTSW 15 78,424,187 (GRCm39) missense probably damaging 0.99
R3770:Sstr3 UTSW 15 78,424,577 (GRCm39) missense probably damaging 1.00
R4399:Sstr3 UTSW 15 78,424,324 (GRCm39) missense probably damaging 1.00
R4724:Sstr3 UTSW 15 78,423,897 (GRCm39) nonsense probably null
R6181:Sstr3 UTSW 15 78,423,661 (GRCm39) missense probably benign
R7450:Sstr3 UTSW 15 78,424,043 (GRCm39) missense probably damaging 1.00
R7578:Sstr3 UTSW 15 78,424,717 (GRCm39) missense probably benign
R7793:Sstr3 UTSW 15 78,424,588 (GRCm39) missense probably damaging 1.00
R8336:Sstr3 UTSW 15 78,424,693 (GRCm39) missense probably damaging 1.00
R9263:Sstr3 UTSW 15 78,423,792 (GRCm39) missense probably damaging 1.00
R9264:Sstr3 UTSW 15 78,423,792 (GRCm39) missense probably damaging 1.00
R9265:Sstr3 UTSW 15 78,423,792 (GRCm39) missense probably damaging 1.00
X0026:Sstr3 UTSW 15 78,423,574 (GRCm39) missense possibly damaging 0.57
Z1177:Sstr3 UTSW 15 78,423,503 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGCTGTTGTCCACTAGTGC -3'
(R):5'- CTCATTGTGGTAAAGGTGCG -3'

Sequencing Primer
(F):5'- TGTGCGATCTGACTGAGCCTC -3'
(R):5'- TAAAGGTGCGGTCGACCAC -3'
Posted On 2018-02-28