Incidental Mutation 'R8789:Scg2'
| ID |
670794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scg2
|
| Ensembl Gene |
ENSMUSG00000050711 |
| Gene Name |
secretogranin II |
| Synonyms |
SgII, Chgc |
| MMRRC Submission |
068608-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
79412386-79417837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 79413500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 368
(Q368K)
|
| 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: Q408K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000062556
Gene: ENSMUSG00000050711
AA Change: Q408K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Granin
|
27 |
614 |
7.2e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185234
AA Change: Q368K
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139740
Gene: ENSMUSG00000050711
AA Change: Q368K
| 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: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
T |
2: 158,478,604 (GRCm39) |
Q485* |
probably null |
Het |
| Arsa |
C |
T |
15: 89,358,260 (GRCm39) |
V350I |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cav2 |
T |
C |
6: 17,281,996 (GRCm39) |
Y85H |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,424,784 (GRCm39) |
Q570R |
probably damaging |
Het |
| Cd72 |
A |
G |
4: 43,452,628 (GRCm39) |
S122P |
probably damaging |
Het |
| Cep72 |
A |
G |
13: 74,186,367 (GRCm39) |
M619T |
possibly damaging |
Het |
| Cers5 |
C |
A |
15: 99,637,551 (GRCm39) |
V233F |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,673,292 (GRCm39) |
Y803H |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,554 (GRCm39) |
S596P |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,375,359 (GRCm39) |
E251G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,266,722 (GRCm39) |
N68I |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,642,933 (GRCm39) |
N466S |
possibly damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,007,106 (GRCm39) |
I71N |
probably damaging |
Het |
| Cyp2j11 |
C |
T |
4: 96,227,405 (GRCm39) |
E204K |
probably damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,848 (GRCm39) |
F469S |
probably damaging |
Het |
| Dmac2 |
T |
A |
7: 25,320,495 (GRCm39) |
S65T |
probably benign |
Het |
| Duxf1 |
T |
C |
10: 58,059,426 (GRCm39) |
N443D |
unknown |
Het |
| Elp3 |
G |
A |
14: 65,802,870 (GRCm39) |
P243S |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,143 (GRCm39) |
M292K |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,822 (GRCm39) |
S3852P |
possibly damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm10912 |
A |
C |
2: 103,897,046 (GRCm39) |
K62Q |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Hapstr1 |
T |
C |
16: 8,660,865 (GRCm39) |
I114T |
probably benign |
Het |
| Hoxc12 |
T |
C |
15: 102,846,732 (GRCm39) |
I208T |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,836,602 (GRCm39) |
P30L |
unknown |
Het |
| Itgal |
A |
G |
7: 126,904,421 (GRCm39) |
H298R |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
| Or13c7d |
A |
T |
4: 43,770,793 (GRCm39) |
C73S |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,135 (GRCm39) |
F177S |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,836,581 (GRCm39) |
D284E |
unknown |
Het |
| Pmp2 |
T |
A |
3: 10,247,564 (GRCm39) |
I42F |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,216,494 (GRCm39) |
D115G |
probably damaging |
Het |
| Pym1 |
T |
C |
10: 128,601,073 (GRCm39) |
V32A |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,588,546 (GRCm39) |
H1105R |
probably benign |
Het |
| Rimkla |
T |
C |
4: 119,349,607 (GRCm39) |
Y17C |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,391,924 (GRCm39) |
R623K |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,999,328 (GRCm39) |
N1207K |
probably damaging |
Het |
| Serpinb6e |
G |
A |
13: 34,017,213 (GRCm39) |
T269I |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,367,438 (GRCm39) |
K663* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,137,494 (GRCm39) |
N1026K |
possibly damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,321,609 (GRCm39) |
D379G |
unknown |
Het |
| Vps13d |
T |
C |
4: 144,795,743 (GRCm39) |
M3700V |
|
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,288 (GRCm39) |
L136P |
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 |
|
R8308:Scg2
|
UTSW |
1 |
79,414,576 (GRCm39) |
missense |
probably benign |
0.18 |
|
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'- AGATTTCCCAGGACCATAAGGG -3'
(R):5'- AGAAGCCCCTTGATTCTCAGTC -3'
Sequencing Primer
(F):5'- GGACCATAAGGGAGCCTCATC -3'
(R):5'- TTGATTCTCAGTCTATTTATCAGCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation