Incidental Mutation 'IGL02210:Sstr4'
ID284650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sstr4
Ensembl Gene ENSMUSG00000037014
Gene Namesomatostatin receptor 4
SynonymsSmstr4, sst4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL02210
Quality Score
Status
Chromosome2
Chromosomal Location148395344-148396767 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 148396309 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 280 (L280Q)
Ref Sequence ENSEMBL: ENSMUSP00000105588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109962]
Predicted Effect probably damaging
Transcript: ENSMUST00000109962
AA Change: L280Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105588
Gene: ENSMUSG00000037014
AA Change: L280Q

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,687,371 F215S probably damaging Het
Acvr2a A T 2: 48,898,526 H422L probably damaging Het
Adcy6 T C 15: 98,594,971 Y908C possibly damaging Het
Alyref A C 11: 120,597,673 S110A possibly damaging Het
Ankrd1 T C 19: 36,118,314 D86G probably damaging Het
Anpep T A 7: 79,826,904 Y29F probably benign Het
Appl1 T C 14: 26,925,952 probably benign Het
Arrdc5 T C 17: 56,300,026 D73G probably damaging Het
Atp12a T A 14: 56,371,744 Y142* probably null Het
Clec4a3 T A 6: 122,954,108 I52N probably damaging Het
Cmya5 G A 13: 93,092,734 P1949S probably benign Het
Crybb2 T A 5: 113,058,387 Q194L probably damaging Het
Dmxl2 A C 9: 54,404,049 L1796R probably damaging Het
Ecm1 A G 3: 95,735,977 F337S probably damaging Het
F5 T C 1: 164,190,141 S596P probably benign Het
Fat4 A G 3: 38,891,853 T1632A probably benign Het
Gm5070 T G 3: 95,410,625 noncoding transcript Het
Hps5 T C 7: 46,786,570 Y184C probably benign Het
Letmd1 T C 15: 100,469,247 probably null Het
Lipo5 A T 19: 33,467,877 N97K unknown Het
Mis18bp1 A T 12: 65,136,831 Y922* probably null Het
Mob3c C A 4: 115,833,755 H181N probably damaging Het
Muc4 A T 16: 32,752,254 T711S probably benign Het
Nav3 T C 10: 109,766,990 T1233A probably benign Het
Olfr1120 T A 2: 87,358,003 D186E probably damaging Het
Olfr361 G T 2: 37,085,619 T43N possibly damaging Het
Pcnt T C 10: 76,389,219 E1817G possibly damaging Het
Pdzd3 T G 9: 44,248,317 T461P probably benign Het
Phc3 A G 3: 30,936,709 V420A probably damaging Het
Plekhn1 A T 4: 156,223,649 C316S probably damaging Het
Ppp1cb T A 5: 32,483,474 probably benign Het
Slc29a4 T C 5: 142,718,779 Y359H probably damaging Het
Sspo T C 6: 48,500,492 I4982T probably damaging Het
Stap1 G A 5: 86,078,061 probably null Het
Szt2 A G 4: 118,389,823 V865A possibly damaging Het
Tmem246 A G 4: 49,586,686 Y161H probably benign Het
Tnr T A 1: 159,852,101 V215D probably benign Het
Trpm1 T C 7: 64,210,865 L288P probably damaging Het
Ttll5 T A 12: 85,912,545 probably benign Het
Usp8 T C 2: 126,718,056 probably benign Het
Uxs1 T C 1: 43,750,286 Y403C possibly damaging Het
Wnk2 T C 13: 49,090,869 E497G probably damaging Het
Xdh T C 17: 73,943,895 K21E probably benign Het
Other mutations in Sstr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Sstr4 APN 2 148395552 missense probably benign 0.00
IGL01536:Sstr4 APN 2 148395880 missense probably damaging 1.00
IGL02670:Sstr4 APN 2 148396533 nonsense probably null
R0396:Sstr4 UTSW 2 148396261 missense probably damaging 1.00
R1428:Sstr4 UTSW 2 148396359 missense probably benign 0.01
R1839:Sstr4 UTSW 2 148395533 missense probably benign 0.21
R2332:Sstr4 UTSW 2 148396410 missense probably damaging 1.00
R2943:Sstr4 UTSW 2 148396165 missense probably damaging 0.96
R3700:Sstr4 UTSW 2 148396353 missense possibly damaging 0.57
R5502:Sstr4 UTSW 2 148395551 small insertion probably benign
R5503:Sstr4 UTSW 2 148395551 small insertion probably benign
R5596:Sstr4 UTSW 2 148395732 missense possibly damaging 0.65
R5726:Sstr4 UTSW 2 148396083 missense probably damaging 1.00
R6985:Sstr4 UTSW 2 148396249 missense probably damaging 0.97
X0022:Sstr4 UTSW 2 148395532 missense probably benign 0.00
Posted On2015-04-16