Incidental Mutation 'R9734:Scamp2'
| ID |
731614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scamp2
|
| Ensembl Gene |
ENSMUSG00000040188 |
| Gene Name |
secretory carrier membrane protein 2 |
| Synonyms |
Sc2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57468226-57496078 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 57490175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 225
(F225V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045791]
[ENSMUST00000216986]
|
| AlphaFold |
Q9ERN0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045791
AA Change: F225V
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188
AA Change: F225V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
Pfam:SCAMP
|
117 |
293 |
2.6e-68 |
PFAM |
|
low complexity region
|
309 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216986
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
A |
4: 152,345,474 (GRCm39) |
V348E |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,763,199 (GRCm39) |
L1270P |
probably damaging |
Het |
| Akap12 |
C |
T |
10: 4,305,929 (GRCm39) |
T1018M |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Bod1l |
A |
T |
5: 41,962,573 (GRCm39) |
D2721E |
possibly damaging |
Het |
| Bri3bp |
G |
T |
5: 125,518,736 (GRCm39) |
R4L |
unknown |
Het |
| Cnbd2 |
T |
A |
2: 156,180,540 (GRCm39) |
N241K |
possibly damaging |
Het |
| Cpne2 |
A |
G |
8: 95,295,228 (GRCm39) |
I438V |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,962 (GRCm39) |
T732A |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dbt |
T |
C |
3: 116,339,704 (GRCm39) |
V364A |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fsip1 |
T |
A |
2: 118,070,916 (GRCm39) |
Q258L |
probably benign |
Het |
| Gabrg3 |
A |
G |
7: 56,634,908 (GRCm39) |
Y92H |
probably damaging |
Het |
| Grid1 |
C |
A |
14: 35,302,742 (GRCm39) |
D1002E |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,726,605 (GRCm39) |
C565* |
probably null |
Het |
| Iqce |
G |
T |
5: 140,678,564 (GRCm39) |
R127S |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,682,320 (GRCm39) |
E1095D |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Mmp25 |
C |
T |
17: 23,850,834 (GRCm39) |
V367M |
possibly damaging |
Het |
| Mucl3 |
T |
A |
17: 35,949,233 (GRCm39) |
D122V |
probably benign |
Het |
| Or10d4c |
T |
C |
9: 39,558,202 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,239 (GRCm39) |
I167N |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,057,737 (GRCm39) |
M115V |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 88,996,496 (GRCm39) |
S696T |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,064,560 (GRCm39) |
H210R |
possibly damaging |
Het |
| Vil1 |
T |
C |
1: 74,454,309 (GRCm39) |
I24T |
possibly damaging |
Het |
| Vmn1r218 |
T |
A |
13: 23,321,034 (GRCm39) |
L127H |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,492 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,757 (GRCm39) |
T332S |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
probably damaging |
Het |
|
| Other mutations in Scamp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01817:Scamp2
|
APN |
9 |
57,488,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL01932:Scamp2
|
APN |
9 |
57,468,399 (GRCm39) |
splice site |
probably benign |
|
|
IGL02661:Scamp2
|
APN |
9 |
57,494,697 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02982:Scamp2
|
APN |
9 |
57,488,832 (GRCm39) |
missense |
probably benign |
|
|
IGL03081:Scamp2
|
APN |
9 |
57,494,410 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL03299:Scamp2
|
APN |
9 |
57,485,023 (GRCm39) |
splice site |
probably null |
|
|
PIT4280001:Scamp2
|
UTSW |
9 |
57,488,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1114:Scamp2
|
UTSW |
9 |
57,488,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Scamp2
|
UTSW |
9 |
57,484,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4062:Scamp2
|
UTSW |
9 |
57,484,545 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4573:Scamp2
|
UTSW |
9 |
57,484,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Scamp2
|
UTSW |
9 |
57,488,934 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5449:Scamp2
|
UTSW |
9 |
57,488,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6923:Scamp2
|
UTSW |
9 |
57,488,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7123:Scamp2
|
UTSW |
9 |
57,494,385 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8220:Scamp2
|
UTSW |
9 |
57,484,953 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATCTTCAGCTTGTGTGT -3'
(R):5'- CCAGGAGAGAGGCATTGCAT -3'
Sequencing Primer
(F):5'- TGTGTATACATGGTACCACAGGGC -3'
(R):5'- GAGCTATACCCTATCTGAGCTGAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation