Incidental Mutation 'IGL01536:Sstr4'
ID 89948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sstr4
Ensembl Gene ENSMUSG00000037014
Gene Name somatostatin receptor 4
Synonyms Smstr4, sst4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # IGL01536
Quality Score
Status
Chromosome 2
Chromosomal Location 148237297-148238684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148237800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 137 (L137P)
Ref Sequence ENSEMBL: ENSMUSP00000105588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109962]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000109962
AA Change: L137P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105588
Gene: ENSMUSG00000037014
AA Change: L137P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 55 323 4.7e-16 PFAM
Pfam:7tm_1 61 308 2.2e-61 PFAM
Pfam:7TM_GPCR_Srv 117 325 1.8e-10 PFAM
Pfam:7TM_GPCR_Srw 203 326 8.1e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygote null mice have increased susceptibility to inflammation, delayed type hypersensitivity, hyperalgesia and airway hypersensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5f1a T C 18: 77,868,012 (GRCm39) probably benign Het
Ccnc A G 4: 21,732,505 (GRCm39) I81V probably benign Het
Cep112 A G 11: 108,422,237 (GRCm39) D560G probably null Het
Dis3 A G 14: 99,316,859 (GRCm39) Y826H probably damaging Het
Dtx2 A G 5: 136,038,940 (GRCm39) probably benign Het
Enpp4 T C 17: 44,410,494 (GRCm39) K361E possibly damaging Het
Erap1 A T 13: 74,810,542 (GRCm39) K294* probably null Het
Erbb4 T A 1: 68,329,441 (GRCm39) Y636F probably benign Het
Fads1 C A 19: 10,171,394 (GRCm39) Q342K probably benign Het
Fntb A T 12: 76,966,904 (GRCm39) T447S probably benign Het
Hdac4 A G 1: 91,857,868 (GRCm39) probably benign Het
Kcnh2 A G 5: 24,531,522 (GRCm39) I463T probably damaging Het
Kif13a G T 13: 46,905,765 (GRCm39) T726K probably damaging Het
Lcmt1 T C 7: 123,021,966 (GRCm39) S275P possibly damaging Het
Lmnb1 T C 18: 56,873,868 (GRCm39) S425P probably benign Het
Lrp1b T C 2: 41,000,895 (GRCm39) I2224V probably benign Het
Lrrc45 A T 11: 120,606,410 (GRCm39) T173S probably benign Het
Muc4 T C 16: 32,584,340 (GRCm39) Y2590H possibly damaging Het
Myo18a C T 11: 77,711,677 (GRCm39) P676L probably damaging Het
Or5m10 T C 2: 85,717,944 (GRCm39) S267P probably damaging Het
Pcdhb15 T C 18: 37,608,046 (GRCm39) M426T probably benign Het
Pik3cd A G 4: 149,737,123 (GRCm39) V891A probably damaging Het
Polr1b A G 2: 128,967,475 (GRCm39) N956S probably benign Het
Ppil3 T C 1: 58,483,750 (GRCm39) M1V probably null Het
Rad1 T A 15: 10,493,286 (GRCm39) S238T possibly damaging Het
Shc3 A C 13: 51,670,595 (GRCm39) S51A probably damaging Het
Slc9c1 T C 16: 45,409,992 (GRCm39) probably null Het
Smg5 A G 3: 88,256,552 (GRCm39) K273E possibly damaging Het
Sntg1 C T 1: 8,653,424 (GRCm39) probably null Het
Taar8b C T 10: 23,967,493 (GRCm39) V234I probably benign Het
Tbc1d9 A G 8: 83,987,621 (GRCm39) Y860C probably damaging Het
Tll1 A T 8: 64,527,323 (GRCm39) S399R probably damaging Het
Tns1 T C 1: 73,958,807 (GRCm39) probably benign Het
Trim10 T A 17: 37,188,180 (GRCm39) probably null Het
Ttn C T 2: 76,562,695 (GRCm39) probably null Het
Usp43 T C 11: 67,746,764 (GRCm39) D981G probably benign Het
Vmn2r108 A T 17: 20,683,543 (GRCm39) C554S probably damaging Het
Vmn2r112 T A 17: 22,824,136 (GRCm39) Y464N probably damaging Het
Vmn2r31 T C 7: 7,387,847 (GRCm39) K575E probably damaging Het
Vmn2r50 C T 7: 9,771,610 (GRCm39) C697Y probably damaging Het
Zcchc8 A C 5: 123,858,782 (GRCm39) probably null Het
Other mutations in Sstr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Sstr4 APN 2 148,237,472 (GRCm39) missense probably benign 0.00
IGL02210:Sstr4 APN 2 148,238,229 (GRCm39) missense probably damaging 1.00
IGL02670:Sstr4 APN 2 148,238,453 (GRCm39) nonsense probably null
R0396:Sstr4 UTSW 2 148,238,181 (GRCm39) missense probably damaging 1.00
R1428:Sstr4 UTSW 2 148,238,279 (GRCm39) missense probably benign 0.01
R1839:Sstr4 UTSW 2 148,237,453 (GRCm39) missense probably benign 0.21
R2332:Sstr4 UTSW 2 148,238,330 (GRCm39) missense probably damaging 1.00
R2943:Sstr4 UTSW 2 148,238,085 (GRCm39) missense probably damaging 0.96
R3700:Sstr4 UTSW 2 148,238,273 (GRCm39) missense possibly damaging 0.57
R5502:Sstr4 UTSW 2 148,237,471 (GRCm39) small insertion probably benign
R5503:Sstr4 UTSW 2 148,237,471 (GRCm39) small insertion probably benign
R5596:Sstr4 UTSW 2 148,237,652 (GRCm39) missense possibly damaging 0.65
R5726:Sstr4 UTSW 2 148,238,003 (GRCm39) missense probably damaging 1.00
R6985:Sstr4 UTSW 2 148,238,169 (GRCm39) missense probably damaging 0.97
R8939:Sstr4 UTSW 2 148,238,228 (GRCm39) missense probably damaging 1.00
R8943:Sstr4 UTSW 2 148,237,782 (GRCm39) missense possibly damaging 0.94
X0022:Sstr4 UTSW 2 148,237,452 (GRCm39) missense probably benign 0.00
Posted On 2013-12-03