Incidental Mutation 'IGL01347:Scg2'
ID 75084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scg2
Ensembl Gene ENSMUSG00000050711
Gene Name secretogranin II
Synonyms SgII, Chgc
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01347
Quality Score
Status
Chromosome 1
Chromosomal Location 79412386-79417837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79414538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 62 (I62L)
Ref Sequence ENSEMBL: ENSMUSP00000062556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049972] [ENSMUST00000185234]
AlphaFold Q03517
Predicted Effect probably benign
Transcript: ENSMUST00000049972
AA Change: I62L

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000062556
Gene: ENSMUSG00000050711
AA Change: I62L

DomainStartEndE-ValueType
Pfam:Granin 27 614 7.2e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185234
AA Change: I62L

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139740
Gene: ENSMUSG00000050711
AA Change: I62L

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null Het
Other mutations in Scg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02083:Scg2 APN 1 79,413,941 (GRCm39) missense probably benign 0.00
IGL02316:Scg2 APN 1 79,413,398 (GRCm39) missense probably damaging 1.00
IGL02338:Scg2 APN 1 79,414,210 (GRCm39) missense possibly damaging 0.93
R0281:Scg2 UTSW 1 79,413,229 (GRCm39) missense possibly damaging 0.95
R0384:Scg2 UTSW 1 79,413,266 (GRCm39) missense probably benign 0.42
R0501:Scg2 UTSW 1 79,413,320 (GRCm39) missense probably damaging 1.00
R0909:Scg2 UTSW 1 79,413,499 (GRCm39) missense possibly damaging 0.74
R1773:Scg2 UTSW 1 79,413,352 (GRCm39) missense probably benign 0.04
R2254:Scg2 UTSW 1 79,414,217 (GRCm39) missense probably damaging 1.00
R4074:Scg2 UTSW 1 79,414,574 (GRCm39) missense probably damaging 0.97
R4076:Scg2 UTSW 1 79,414,574 (GRCm39) missense probably damaging 0.97
R4097:Scg2 UTSW 1 79,413,538 (GRCm39) missense probably damaging 0.99
R4560:Scg2 UTSW 1 79,412,898 (GRCm39) missense probably damaging 1.00
R4621:Scg2 UTSW 1 79,414,381 (GRCm39) missense probably benign 0.08
R4876:Scg2 UTSW 1 79,413,636 (GRCm39) missense probably damaging 1.00
R4944:Scg2 UTSW 1 79,414,193 (GRCm39) nonsense probably null
R5829:Scg2 UTSW 1 79,414,637 (GRCm39) missense probably damaging 1.00
R6158:Scg2 UTSW 1 79,413,117 (GRCm39) missense probably damaging 1.00
R6248:Scg2 UTSW 1 79,414,023 (GRCm39) missense probably benign 0.29
R6365:Scg2 UTSW 1 79,413,017 (GRCm39) missense probably benign
R6459:Scg2 UTSW 1 79,414,007 (GRCm39) missense probably damaging 1.00
R6676:Scg2 UTSW 1 79,413,499 (GRCm39) missense possibly damaging 0.74
R6693:Scg2 UTSW 1 79,413,737 (GRCm39) missense probably benign 0.01
R7259:Scg2 UTSW 1 79,414,702 (GRCm39) missense probably benign
R7393:Scg2 UTSW 1 79,412,948 (GRCm39) missense probably damaging 1.00
R7578:Scg2 UTSW 1 79,414,612 (GRCm39) missense probably damaging 0.99
R7608:Scg2 UTSW 1 79,413,898 (GRCm39) missense probably benign 0.00
R8166:Scg2 UTSW 1 79,413,300 (GRCm39) missense possibly damaging 0.56
R8247:Scg2 UTSW 1 79,414,236 (GRCm39) missense possibly damaging 0.92
R8296:Scg2 UTSW 1 79,413,222 (GRCm39) missense probably benign 0.13
R8308:Scg2 UTSW 1 79,414,576 (GRCm39) missense probably benign 0.18
R8789:Scg2 UTSW 1 79,413,500 (GRCm39) missense probably benign 0.05
R9252:Scg2 UTSW 1 79,414,069 (GRCm39) missense probably damaging 0.98
R9286:Scg2 UTSW 1 79,413,653 (GRCm39) missense probably damaging 1.00
R9489:Scg2 UTSW 1 79,412,936 (GRCm39) missense probably damaging 1.00
R9605:Scg2 UTSW 1 79,412,936 (GRCm39) missense probably damaging 1.00
Z1176:Scg2 UTSW 1 79,414,506 (GRCm39) missense probably benign 0.17
Posted On 2013-10-07