Incidental Mutation 'R7608:Scg2'
| ID |
588411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scg2
|
| Ensembl Gene |
ENSMUSG00000050711 |
| Gene Name |
secretogranin II |
| Synonyms |
SgII, Chgc |
| MMRRC Submission |
045678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7608 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
79412386-79417837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79413898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 275
(E275G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049972]
[ENSMUST00000185234]
|
| AlphaFold |
Q03517 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049972
AA Change: E275G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062556
Gene: ENSMUSG00000050711
AA Change: E275G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Granin
|
27 |
614 |
7.2e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185234
AA Change: E275G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139740
Gene: ENSMUSG00000050711
AA Change: E275G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,154,347 (GRCm39) |
F311S |
probably benign |
Het |
| Adamts7 |
C |
A |
9: 90,055,826 (GRCm39) |
T193N |
possibly damaging |
Het |
| Akr1b7 |
A |
G |
6: 34,397,457 (GRCm39) |
N273S |
probably damaging |
Het |
| Asz1 |
G |
A |
6: 18,077,252 (GRCm39) |
T151M |
probably damaging |
Het |
| Atosb |
A |
G |
4: 43,036,533 (GRCm39) |
L66P |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,703,119 (GRCm39) |
Y1046N |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,564,022 (GRCm39) |
S902P |
probably damaging |
Het |
| Casp3 |
T |
A |
8: 47,087,368 (GRCm39) |
I105K |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,506,450 (GRCm39) |
V664I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,805,451 (GRCm39) |
C267Y |
possibly damaging |
Het |
| Dgkz |
A |
T |
2: 91,764,399 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
T |
12: 118,104,505 (GRCm39) |
|
probably null |
Het |
| Duox1 |
C |
A |
2: 122,156,616 (GRCm39) |
Y514* |
probably null |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,003,979 (GRCm39) |
|
probably null |
Het |
| Fgfrl1 |
A |
T |
5: 108,853,211 (GRCm39) |
K278M |
probably damaging |
Het |
| Fign |
T |
C |
2: 63,809,063 (GRCm39) |
I736V |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,318,184 (GRCm39) |
F410S |
probably benign |
Het |
| Hspbp1 |
C |
A |
7: 4,663,821 (GRCm39) |
K341N |
possibly damaging |
Het |
| Idh3b |
A |
T |
2: 130,122,900 (GRCm39) |
S296R |
probably damaging |
Het |
| Ifi44 |
A |
G |
3: 151,438,045 (GRCm39) |
F414S |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,577,731 (GRCm39) |
M690L |
probably benign |
Het |
| Ldaf1 |
A |
G |
7: 119,704,011 (GRCm39) |
K19E |
probably damaging |
Het |
| Lrrc49 |
C |
T |
9: 60,510,005 (GRCm39) |
G488S |
probably null |
Het |
| Mcc |
T |
C |
18: 44,624,294 (GRCm39) |
N417S |
possibly damaging |
Het |
| Melk |
T |
A |
4: 44,325,571 (GRCm39) |
|
probably null |
Het |
| Mtcl1 |
T |
C |
17: 66,650,300 (GRCm39) |
R1722G |
probably damaging |
Het |
| Or4a79 |
A |
G |
2: 89,551,642 (GRCm39) |
V271A |
probably benign |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,132 (GRCm39) |
I150V |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,456,956 (GRCm39) |
T202I |
possibly damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,806 (GRCm39) |
V132D |
possibly damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,713 (GRCm39) |
E651G |
probably damaging |
Het |
| Pop5 |
A |
G |
5: 115,375,931 (GRCm39) |
|
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,885,642 (GRCm39) |
M602L |
probably benign |
Het |
| Prpf39 |
G |
A |
12: 65,100,220 (GRCm39) |
A298T |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,644,379 (GRCm39) |
|
probably null |
Het |
| Slc16a4 |
A |
T |
3: 107,210,443 (GRCm39) |
Y371F |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,693,533 (GRCm39) |
M489K |
possibly damaging |
Het |
| Spata13 |
A |
G |
14: 60,929,956 (GRCm39) |
N505D |
possibly damaging |
Het |
| Tas2r129 |
A |
G |
6: 132,928,156 (GRCm39) |
N31S |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,915,984 (GRCm39) |
Y1508* |
probably null |
Het |
| Trim23 |
T |
C |
13: 104,328,541 (GRCm39) |
V354A |
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,548,748 (GRCm39) |
T18S |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,691,146 (GRCm39) |
K232R |
probably damaging |
Het |
| Vmn1r53 |
C |
T |
6: 90,201,104 (GRCm39) |
M73I |
probably benign |
Het |
| Vmn1r67 |
G |
A |
7: 10,181,290 (GRCm39) |
V185M |
possibly damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,276 (GRCm39) |
I99T |
probably benign |
Het |
| Zfp318 |
T |
G |
17: 46,710,935 (GRCm39) |
V886G |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,941,797 (GRCm39) |
N324S |
probably benign |
Het |
| Zfp819 |
T |
C |
7: 43,266,357 (GRCm39) |
V280A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTGGCCCACTCTGTGAC -3'
(R):5'- GGAGTCTGTGTTCCAAGAGC -3'
Sequencing Primer
(F):5'- ACTCTGTGACCTCCCACTG -3'
(R):5'- CTTGGGAAACTGACAGGGCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation