Incidental Mutation 'R8308:Scg2'
ID |
641171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scg2
|
Ensembl Gene |
ENSMUSG00000050711 |
Gene Name |
secretogranin II |
Synonyms |
SgII, Chgc |
MMRRC Submission |
067793-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8308 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
79412386-79417837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 79414576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 49
(K49T)
|
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: K49T
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000062556 Gene: ENSMUSG00000050711 AA Change: K49T
Domain | Start | End | E-Value | Type |
Pfam:Granin
|
27 |
614 |
7.2e-235 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185234
AA Change: K49T
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000139740 Gene: ENSMUSG00000050711 AA Change: K49T
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
G |
3: 59,659,570 (GRCm39) |
D341G |
probably damaging |
Het |
Abca17 |
T |
C |
17: 24,486,657 (GRCm39) |
T1457A |
probably damaging |
Het |
Acot8 |
A |
T |
2: 164,646,663 (GRCm39) |
S25R |
probably benign |
Het |
Ap2a2 |
T |
C |
7: 141,210,212 (GRCm39) |
V850A |
probably benign |
Het |
Baiap2l1 |
T |
A |
5: 144,214,487 (GRCm39) |
E402D |
probably benign |
Het |
Bptf |
T |
C |
11: 106,943,815 (GRCm39) |
K2689E |
probably damaging |
Het |
Cdh22 |
C |
A |
2: 164,954,098 (GRCm39) |
D808Y |
probably damaging |
Het |
Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
Cipc |
A |
G |
12: 87,008,809 (GRCm39) |
T223A |
probably benign |
Het |
Crem |
G |
T |
18: 3,295,397 (GRCm39) |
T57K |
possibly damaging |
Het |
Cyp17a1 |
T |
A |
19: 46,656,516 (GRCm39) |
I393F |
probably benign |
Het |
Dgcr2 |
C |
T |
16: 17,676,242 (GRCm39) |
G176D |
probably benign |
Het |
Dock3 |
C |
A |
9: 106,790,371 (GRCm39) |
V1451L |
probably benign |
Het |
Dsg2 |
C |
T |
18: 20,708,121 (GRCm39) |
P74L |
probably benign |
Het |
Ece1 |
T |
C |
4: 137,664,075 (GRCm39) |
V224A |
probably damaging |
Het |
Flg |
A |
T |
3: 93,190,586 (GRCm39) |
S152C |
unknown |
Het |
Gcsam |
A |
T |
16: 45,430,902 (GRCm39) |
N3I |
probably damaging |
Het |
Gm10188 |
C |
T |
1: 132,157,310 (GRCm39) |
V19I |
unknown |
Het |
Gpr27 |
T |
C |
6: 99,670,217 (GRCm39) |
L193P |
probably damaging |
Het |
Grin2b |
A |
T |
6: 135,900,074 (GRCm39) |
V269E |
probably damaging |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Kif14 |
A |
G |
1: 136,443,651 (GRCm39) |
I1275V |
possibly damaging |
Het |
Krt27 |
T |
C |
11: 99,239,862 (GRCm39) |
E234G |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
Matk |
T |
G |
10: 81,094,121 (GRCm39) |
S18A |
probably benign |
Het |
Mbd3l1 |
A |
G |
9: 18,395,886 (GRCm39) |
T4A |
probably benign |
Het |
Mettl23 |
G |
A |
11: 116,739,185 (GRCm39) |
|
probably null |
Het |
Ncam1 |
A |
T |
9: 49,479,817 (GRCm39) |
W54R |
probably damaging |
Het |
Olfm5 |
A |
G |
7: 103,803,606 (GRCm39) |
Y286H |
probably damaging |
Het |
Or10d5j |
T |
A |
9: 39,868,265 (GRCm39) |
M1L |
probably benign |
Het |
Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
Or4q3 |
T |
C |
14: 50,582,922 (GRCm39) |
I326V |
probably benign |
Het |
Or5ac15 |
C |
T |
16: 58,939,899 (GRCm39) |
C178Y |
probably damaging |
Het |
Pmch |
A |
G |
10: 87,927,614 (GRCm39) |
Y105C |
probably damaging |
Het |
Prg3 |
A |
G |
2: 84,819,676 (GRCm39) |
T57A |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,688,838 (GRCm39) |
E877G |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,769,566 (GRCm39) |
V433A |
probably benign |
Het |
Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
Scara5 |
C |
T |
14: 65,927,234 (GRCm39) |
R44W |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,950,180 (GRCm39) |
I424T |
probably benign |
Het |
Slc4a8 |
T |
A |
15: 100,693,735 (GRCm39) |
S479T |
probably damaging |
Het |
Sorl1 |
T |
C |
9: 41,929,456 (GRCm39) |
D1139G |
probably damaging |
Het |
Srcap |
A |
G |
7: 127,152,353 (GRCm39) |
I2206V |
possibly damaging |
Het |
Tpk1 |
T |
C |
6: 43,642,711 (GRCm39) |
E9G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,642,645 (GRCm39) |
V13297I |
possibly damaging |
Het |
Uchl3 |
T |
C |
14: 101,932,655 (GRCm39) |
|
probably null |
Het |
Usp12 |
T |
C |
5: 146,688,751 (GRCm39) |
D201G |
probably damaging |
Het |
Vmn1r193 |
C |
T |
13: 22,403,146 (GRCm39) |
R282H |
probably benign |
Het |
Vmn2r104 |
T |
C |
17: 20,261,040 (GRCm39) |
D461G |
possibly damaging |
Het |
Zfp131 |
A |
G |
13: 120,244,440 (GRCm39) |
M80T |
possibly damaging |
Het |
Zfp457 |
A |
G |
13: 67,441,663 (GRCm39) |
L304P |
probably benign |
Het |
Zswim3 |
A |
G |
2: 164,663,566 (GRCm39) |
E682G |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTCGAGTATTATCCGCATCC -3'
(R):5'- CGTGCCTTCAAGCTCGTATC -3'
Sequencing Primer
(F):5'- GAGTATTATCCGCATCCACTCG -3'
(R):5'- GTGCCTTCAAGCTCGTATCATCTG -3'
|
Posted On |
2020-07-28 |