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 |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02083
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
79412386-79417837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79413941 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
C |
11: 69,780,336 (GRCm39) |
L36V |
possibly damaging |
Het |
| Aoc1l1 |
G |
A |
6: 48,953,194 (GRCm39) |
G373D |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,166,524 (GRCm39) |
T540A |
possibly damaging |
Het |
| Bend5 |
A |
C |
4: 111,316,964 (GRCm39) |
I376L |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,380,736 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
T |
A |
15: 18,986,975 (GRCm39) |
I402N |
possibly damaging |
Het |
| Cfap44 |
T |
C |
16: 44,257,525 (GRCm39) |
V1020A |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,816 (GRCm39) |
S749T |
possibly damaging |
Het |
| Enpp3 |
T |
A |
10: 24,652,692 (GRCm39) |
D755V |
probably damaging |
Het |
| Fmo6 |
T |
A |
1: 162,748,033 (GRCm39) |
K344* |
probably null |
Het |
| Gabbr1 |
A |
G |
17: 37,380,957 (GRCm39) |
T767A |
possibly damaging |
Het |
| Gjd3 |
A |
G |
11: 98,873,587 (GRCm39) |
S86P |
probably damaging |
Het |
| Grin1 |
A |
G |
2: 25,188,513 (GRCm39) |
V432A |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,912,079 (GRCm39) |
C1849* |
probably null |
Het |
| Jcad |
G |
T |
18: 4,680,266 (GRCm39) |
|
probably benign |
Het |
| Mrgpra4 |
A |
T |
7: 47,630,808 (GRCm39) |
C264* |
probably null |
Het |
| Naa80 |
G |
T |
9: 107,460,798 (GRCm39) |
R231L |
probably benign |
Het |
| Napepld |
T |
C |
5: 21,881,065 (GRCm39) |
Y110C |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,963,117 (GRCm39) |
E474G |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,271,451 (GRCm39) |
D3034V |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,758,587 (GRCm39) |
T370A |
possibly damaging |
Het |
| Ptger4 |
C |
T |
15: 5,272,655 (GRCm39) |
R13H |
probably benign |
Het |
| Sfswap |
T |
C |
5: 129,616,855 (GRCm39) |
V433A |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,086,686 (GRCm39) |
Y635H |
probably damaging |
Het |
| Sp5 |
C |
A |
2: 70,306,758 (GRCm39) |
P148T |
possibly damaging |
Het |
| Tlr5 |
A |
G |
1: 182,801,449 (GRCm39) |
N251S |
possibly damaging |
Het |
| Tmem87a |
A |
T |
2: 120,227,861 (GRCm39) |
N95K |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,813,745 (GRCm39) |
T384M |
probably damaging |
Het |
| Unc5c |
T |
C |
3: 141,420,408 (GRCm39) |
L117P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,873,684 (GRCm39) |
N57D |
probably damaging |
Het |
| Zcchc8 |
G |
T |
5: 123,838,981 (GRCm39) |
T519K |
probably damaging |
Het |
| Zfp729b |
G |
A |
13: 67,743,349 (GRCm39) |
T72I |
probably benign |
Het |
|
| Other mutations in Scg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Scg2
|
APN |
1 |
79,414,538 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
2015-04-16 |
Incidental Mutation