Incidental Mutation 'IGL02083:Scg2'
ID 283415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scg2
Ensembl Gene ENSMUSG00000050711
Gene Name secretogranin II
Synonyms SgII, Chgc
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02083
Quality Score
Status
Chromosome 1
Chromosomal Location 79434669-79440120 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79436224 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 261 (T261S)
Ref Sequence ENSEMBL: ENSMUSP00000139740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049972] [ENSMUST00000185234]
AlphaFold Q03517
Predicted Effect probably benign
Transcript: ENSMUST00000049972
AA Change: T261S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062556
Gene: ENSMUSG00000050711
AA Change: T261S

DomainStartEndE-ValueType
Pfam:Granin 27 614 7.2e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185234
AA Change: T261S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139740
Gene: ENSMUSG00000050711
AA Change: T261S

DomainStartEndE-ValueType
Pfam:Granin 27 319 1.4e-123 PFAM
Pfam:Granin 316 574 7.1e-91 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A C 11: 69,889,510 L36V possibly damaging Het
Atp13a3 T C 16: 30,347,706 T540A possibly damaging Het
Bend5 A C 4: 111,459,767 I376L probably benign Het
Ccdc138 T C 10: 58,544,914 probably benign Het
Cdh10 T A 15: 18,986,889 I402N possibly damaging Het
Cfap44 T C 16: 44,437,162 V1020A probably damaging Het
Chd2 A T 7: 73,481,068 S749T possibly damaging Het
Doxl2 G A 6: 48,976,260 G373D probably damaging Het
Enpp3 T A 10: 24,776,794 D755V probably damaging Het
Fmo6 T A 1: 162,920,464 K344* probably null Het
Gabbr1 A G 17: 37,070,065 T767A possibly damaging Het
Gjd3 A G 11: 98,982,761 S86P probably damaging Het
Grin1 A G 2: 25,298,501 V432A possibly damaging Het
Igf2r A T 17: 12,693,192 C1849* probably null Het
Jcad G T 18: 4,680,266 probably benign Het
Mrgpra4 A T 7: 47,981,060 C264* probably null Het
Napepld T C 5: 21,676,067 Y110C probably damaging Het
Nat6 G T 9: 107,583,599 R231L probably benign Het
Ncapd3 A G 9: 27,051,821 E474G probably damaging Het
Pkhd1 T A 1: 20,201,227 D3034V probably damaging Het
Plxnc1 T C 10: 94,922,725 T370A possibly damaging Het
Ptger4 C T 15: 5,243,174 R13H probably benign Het
Sfswap T C 5: 129,539,791 V433A probably benign Het
Sipa1l3 A G 7: 29,387,261 Y635H probably damaging Het
Sp5 C A 2: 70,476,414 P148T possibly damaging Het
Tlr5 A G 1: 182,973,884 N251S possibly damaging Het
Tmem87a A T 2: 120,397,380 N95K probably damaging Het
Unc45b C T 11: 82,922,919 T384M probably damaging Het
Unc5c T C 3: 141,714,647 L117P probably damaging Het
Vcan T C 13: 89,725,565 N57D probably damaging Het
Zcchc8 G T 5: 123,700,918 T519K probably damaging Het
Zfp729b G A 13: 67,595,230 T72I probably benign Het
Other mutations in Scg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Scg2 APN 1 79436821 missense probably benign 0.16
IGL02316:Scg2 APN 1 79435681 missense probably damaging 1.00
IGL02338:Scg2 APN 1 79436493 missense possibly damaging 0.93
R0281:Scg2 UTSW 1 79435512 missense possibly damaging 0.95
R0384:Scg2 UTSW 1 79435549 missense probably benign 0.42
R0501:Scg2 UTSW 1 79435603 missense probably damaging 1.00
R0909:Scg2 UTSW 1 79435782 missense possibly damaging 0.74
R1773:Scg2 UTSW 1 79435635 missense probably benign 0.04
R2254:Scg2 UTSW 1 79436500 missense probably damaging 1.00
R4074:Scg2 UTSW 1 79436857 missense probably damaging 0.97
R4076:Scg2 UTSW 1 79436857 missense probably damaging 0.97
R4097:Scg2 UTSW 1 79435821 missense probably damaging 0.99
R4560:Scg2 UTSW 1 79435181 missense probably damaging 1.00
R4621:Scg2 UTSW 1 79436664 missense probably benign 0.08
R4876:Scg2 UTSW 1 79435919 missense probably damaging 1.00
R4944:Scg2 UTSW 1 79436476 nonsense probably null
R5829:Scg2 UTSW 1 79436920 missense probably damaging 1.00
R6158:Scg2 UTSW 1 79435400 missense probably damaging 1.00
R6248:Scg2 UTSW 1 79436306 missense probably benign 0.29
R6365:Scg2 UTSW 1 79435300 missense probably benign
R6459:Scg2 UTSW 1 79436290 missense probably damaging 1.00
R6676:Scg2 UTSW 1 79435782 missense possibly damaging 0.74
R6693:Scg2 UTSW 1 79436020 missense probably benign 0.01
R7259:Scg2 UTSW 1 79436985 missense probably benign
R7393:Scg2 UTSW 1 79435231 missense probably damaging 1.00
R7578:Scg2 UTSW 1 79436895 missense probably damaging 0.99
R7608:Scg2 UTSW 1 79436181 missense probably benign 0.00
R8166:Scg2 UTSW 1 79435583 missense possibly damaging 0.56
R8247:Scg2 UTSW 1 79436519 missense possibly damaging 0.92
R8296:Scg2 UTSW 1 79435505 missense probably benign 0.13
R8308:Scg2 UTSW 1 79436859 missense probably benign 0.18
R8789:Scg2 UTSW 1 79435783 missense probably benign 0.05
R9252:Scg2 UTSW 1 79436352 missense probably damaging 0.98
R9286:Scg2 UTSW 1 79435936 missense probably damaging 1.00
R9489:Scg2 UTSW 1 79435219 missense probably damaging 1.00
Z1176:Scg2 UTSW 1 79436789 missense probably benign 0.17
Posted On 2015-04-16