Incidental Mutation 'IGL01516:Cspg5'
| ID |
90401 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cspg5
|
| Ensembl Gene |
ENSMUSG00000032482 |
| Gene Name |
chondroitin sulfate proteoglycan 5 |
| Synonyms |
CALEB, NGC, neuroglycan C |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
IGL01516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110072851-110091644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110075761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 166
(K166E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035058]
[ENSMUST00000196060]
[ENSMUST00000197850]
[ENSMUST00000199736]
|
| AlphaFold |
Q71M36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035058
AA Change: K166E
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035058
Gene: ENSMUSG00000032482
AA Change: K166E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
31 |
N/A |
INTRINSIC |
|
Pfam:Chon_Sulph_att
|
33 |
278 |
2.5e-123 |
PFAM |
|
low complexity region
|
290 |
302 |
N/A |
INTRINSIC |
|
EGF
|
373 |
413 |
1.99e1 |
SMART |
|
transmembrane domain
|
421 |
443 |
N/A |
INTRINSIC |
|
Pfam:Neural_ProG_Cyt
|
447 |
565 |
5.8e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196060
AA Change: K166E
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143164
Gene: ENSMUSG00000032482
AA Change: K166E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chon_Sulph_att
|
31 |
278 |
1e-126 |
PFAM |
|
low complexity region
|
290 |
302 |
N/A |
INTRINSIC |
|
EGF
|
373 |
413 |
1.99e1 |
SMART |
|
transmembrane domain
|
421 |
443 |
N/A |
INTRINSIC |
|
Pfam:Neural_ProG_Cyt
|
447 |
487 |
8.9e-26 |
PFAM |
|
Pfam:Neural_ProG_Cyt
|
486 |
539 |
1.3e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196176
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197850
AA Change: K166E
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143005
Gene: ENSMUSG00000032482
AA Change: K166E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chon_Sulph_att
|
31 |
278 |
1.1e-126 |
PFAM |
|
low complexity region
|
290 |
302 |
N/A |
INTRINSIC |
|
EGF
|
373 |
413 |
1.99e1 |
SMART |
|
transmembrane domain
|
421 |
443 |
N/A |
INTRINSIC |
|
Pfam:Neural_ProG_Cyt
|
447 |
520 |
1.5e-45 |
PFAM |
|
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199736
AA Change: K85E
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142845
Gene: ENSMUSG00000032482
AA Change: K85E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chon_Sulph_att
|
1 |
197 |
1.6e-99 |
PFAM |
|
low complexity region
|
209 |
221 |
N/A |
INTRINSIC |
|
EGF
|
292 |
332 |
9.5e-2 |
SMART |
|
transmembrane domain
|
340 |
362 |
N/A |
INTRINSIC |
|
Pfam:Neural_ProG_Cyt
|
366 |
406 |
1.2e-22 |
PFAM |
|
Pfam:Neural_ProG_Cyt
|
405 |
458 |
1.7e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a chondroitin sulfate proteoglycan. The encoded protein has been termed a 'part-time' proteoglycan, as chondroitin sulfate chains appear to be attached to the protein in the developing but not the adult cerebellum and retina. It is thought that this protein plays roles in dendrite branching and synapse formation. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice display decreased spontaneous postsynaptic currents, increased paired-pulse ratios, and reduced long term depression during early postnatal developmental stages. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,838,548 (GRCm39) |
S95P |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,109,043 (GRCm39) |
H709L |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,060,172 (GRCm39) |
Y455C |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,453,563 (GRCm39) |
T341I |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,611,830 (GRCm39) |
Y77* |
probably null |
Het |
| Cps1 |
C |
T |
1: 67,269,443 (GRCm39) |
R1481C |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,616,584 (GRCm39) |
|
probably null |
Het |
| Epha5 |
C |
A |
5: 84,534,135 (GRCm39) |
L65F |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,367,404 (GRCm39) |
K438* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,076,432 (GRCm39) |
C1005S |
probably damaging |
Het |
| Hs3st5 |
C |
T |
10: 36,709,047 (GRCm39) |
T194I |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,816,108 (GRCm39) |
D45V |
probably benign |
Het |
| Il1rn |
C |
T |
2: 24,239,551 (GRCm39) |
T130I |
probably damaging |
Het |
| Klk1b22 |
G |
T |
7: 43,765,732 (GRCm39) |
C196F |
probably damaging |
Het |
| Lamp1 |
C |
T |
8: 13,223,863 (GRCm39) |
H332Y |
probably damaging |
Het |
| Limd2 |
T |
C |
11: 106,049,870 (GRCm39) |
T40A |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
T |
C |
6: 115,826,491 (GRCm39) |
T167A |
probably damaging |
Het |
| Mitf |
T |
A |
6: 97,987,351 (GRCm39) |
|
probably null |
Het |
| Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,132 (GRCm39) |
L201Q |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,760,266 (GRCm39) |
I261F |
probably damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,165 (GRCm39) |
I91F |
probably benign |
Het |
| Paics |
T |
A |
5: 77,104,578 (GRCm39) |
L68I |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,104,337 (GRCm39) |
V56A |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,852,428 (GRCm39) |
V102M |
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,681,448 (GRCm39) |
T62I |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,266,728 (GRCm39) |
E212V |
probably damaging |
Het |
| Rufy2 |
A |
C |
10: 62,847,212 (GRCm39) |
K539Q |
possibly damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
T |
C |
15: 99,610,094 (GRCm39) |
F442L |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,576 (GRCm39) |
V125A |
probably damaging |
Het |
| Tmem154 |
C |
T |
3: 84,591,897 (GRCm39) |
H120Y |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,823 (GRCm39) |
K1321E |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,383,459 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,668,234 (GRCm39) |
D168G |
possibly damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,857 (GRCm39) |
F137L |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,632 (GRCm39) |
T262S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,370 (GRCm39) |
V793A |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,038 (GRCm39) |
N300S |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,426,127 (GRCm39) |
|
probably null |
Het |
| Zfp784 |
G |
A |
7: 5,039,036 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
G |
T |
12: 79,334,625 (GRCm39) |
P131Q |
probably benign |
Het |
|
| Other mutations in Cspg5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Cspg5
|
APN |
9 |
110,085,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01800:Cspg5
|
APN |
9 |
110,080,218 (GRCm39) |
splice site |
probably benign |
|
|
IGL01927:Cspg5
|
APN |
9 |
110,091,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02164:Cspg5
|
APN |
9 |
110,080,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02338:Cspg5
|
APN |
9 |
110,085,335 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02421:Cspg5
|
APN |
9 |
110,076,460 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0106:Cspg5
|
UTSW |
9 |
110,075,600 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0540:Cspg5
|
UTSW |
9 |
110,076,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0905:Cspg5
|
UTSW |
9 |
110,075,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1772:Cspg5
|
UTSW |
9 |
110,091,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Cspg5
|
UTSW |
9 |
110,080,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4356:Cspg5
|
UTSW |
9 |
110,085,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Cspg5
|
UTSW |
9 |
110,080,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:Cspg5
|
UTSW |
9 |
110,075,698 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5441:Cspg5
|
UTSW |
9 |
110,075,711 (GRCm39) |
missense |
probably benign |
|
|
R5474:Cspg5
|
UTSW |
9 |
110,080,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Cspg5
|
UTSW |
9 |
110,080,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6890:Cspg5
|
UTSW |
9 |
110,075,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7028:Cspg5
|
UTSW |
9 |
110,075,959 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7286:Cspg5
|
UTSW |
9 |
110,076,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Cspg5
|
UTSW |
9 |
110,085,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7858:Cspg5
|
UTSW |
9 |
110,080,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Cspg5
|
UTSW |
9 |
110,085,502 (GRCm39) |
missense |
unknown |
|
|
R9034:Cspg5
|
UTSW |
9 |
110,080,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0020:Cspg5
|
UTSW |
9 |
110,076,241 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Cspg5
|
UTSW |
9 |
110,080,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation