Incidental Mutation 'IGL03013:Sdcbp2'
| ID |
407831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sdcbp2
|
| Ensembl Gene |
ENSMUSG00000027456 |
| Gene Name |
syndecan binding protein (syntenin) 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.646)
|
| Stock # |
IGL03013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
151414542-151431925 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151429255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 192
(T192A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028950]
[ENSMUST00000028951]
[ENSMUST00000094456]
[ENSMUST00000109875]
[ENSMUST00000109877]
|
| AlphaFold |
Q99JZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028950
AA Change: T192A
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028950
Gene: ENSMUSG00000027456
AA Change: T192A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
PDZ
|
117 |
188 |
2.13e-9 |
SMART |
|
PDZ
|
201 |
267 |
1.99e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028951
|
| SMART Domains |
Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
Pfam:Syntaphilin
|
50 |
367 |
9.3e-141 |
PFAM |
|
low complexity region
|
436 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094456
|
| SMART Domains |
Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaphilin
|
17 |
334 |
7.7e-141 |
PFAM |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109875
|
| SMART Domains |
Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
Pfam:Syntaphilin
|
51 |
366 |
1.7e-145 |
PFAM |
|
low complexity region
|
436 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109877
|
| SMART Domains |
Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaphilin
|
2 |
298 |
3.2e-125 |
PFAM |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
| 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 contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| B3galt6 |
G |
A |
4: 156,076,215 (GRCm39) |
Q287* |
probably null |
Het |
| C2 |
A |
G |
17: 35,091,435 (GRCm39) |
V353A |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 47,072,483 (GRCm39) |
Y1017F |
possibly damaging |
Het |
| Copz1 |
T |
A |
15: 103,204,995 (GRCm39) |
M118K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,226,296 (GRCm39) |
N298D |
probably benign |
Het |
| Exog |
T |
C |
9: 119,291,679 (GRCm39) |
S295P |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,537,571 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,632 (GRCm39) |
L360S |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,399,023 (GRCm39) |
I70V |
unknown |
Het |
| Krt5 |
T |
A |
15: 101,620,103 (GRCm39) |
I205L |
probably benign |
Het |
| Leng9 |
A |
G |
7: 4,151,737 (GRCm39) |
V313A |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 141,357,147 (GRCm39) |
I148V |
probably benign |
Het |
| Mapk14 |
G |
T |
17: 28,947,323 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,891 (GRCm39) |
M123K |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,561,690 (GRCm39) |
D205G |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,417,665 (GRCm39) |
H3537L |
possibly damaging |
Het |
| Nde1 |
C |
T |
16: 14,009,611 (GRCm39) |
P324L |
probably benign |
Het |
| Nlrp9b |
A |
T |
7: 19,782,750 (GRCm39) |
H888L |
probably damaging |
Het |
| Npy2r |
A |
G |
3: 82,447,819 (GRCm39) |
F319L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,361 (GRCm39) |
V156A |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,289,945 (GRCm39) |
I99T |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,975,840 (GRCm39) |
I91T |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,432,003 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pramel12 |
A |
G |
4: 143,144,037 (GRCm39) |
T128A |
possibly damaging |
Het |
| Pramel33 |
A |
T |
5: 93,630,391 (GRCm39) |
S394T |
probably damaging |
Het |
| Prkcb |
C |
A |
7: 122,226,905 (GRCm39) |
D630E |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,383,349 (GRCm39) |
V5A |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,646,446 (GRCm39) |
S100P |
probably damaging |
Het |
| Sema6a |
C |
T |
18: 47,381,461 (GRCm39) |
A1046T |
probably benign |
Het |
| Serpinb3a |
A |
G |
1: 106,973,813 (GRCm39) |
F366S |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,380,521 (GRCm39) |
W136R |
probably damaging |
Het |
| Smc2 |
G |
T |
4: 52,442,280 (GRCm39) |
V66F |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,976,111 (GRCm39) |
A1187V |
probably benign |
Het |
| Unc5cl |
G |
A |
17: 48,772,049 (GRCm39) |
M442I |
possibly damaging |
Het |
|
| Other mutations in Sdcbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01830:Sdcbp2
|
APN |
2 |
151,431,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Sdcbp2
|
UTSW |
2 |
151,425,884 (GRCm39) |
missense |
probably benign |
|
|
R0102:Sdcbp2
|
UTSW |
2 |
151,425,884 (GRCm39) |
missense |
probably benign |
|
|
R0105:Sdcbp2
|
UTSW |
2 |
151,431,478 (GRCm39) |
missense |
probably benign |
|
|
R5270:Sdcbp2
|
UTSW |
2 |
151,426,812 (GRCm39) |
missense |
probably benign |
|
|
R5396:Sdcbp2
|
UTSW |
2 |
151,429,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Sdcbp2
|
UTSW |
2 |
151,431,135 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5994:Sdcbp2
|
UTSW |
2 |
151,429,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6042:Sdcbp2
|
UTSW |
2 |
151,424,646 (GRCm39) |
nonsense |
probably null |
|
|
R7295:Sdcbp2
|
UTSW |
2 |
151,429,321 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8708:Sdcbp2
|
UTSW |
2 |
151,431,457 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8986:Sdcbp2
|
UTSW |
2 |
151,429,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9003:Sdcbp2
|
UTSW |
2 |
151,429,113 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9767:Sdcbp2
|
UTSW |
2 |
151,429,057 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation