Incidental Mutation 'IGL01800:Cspg5'
| ID |
155506 |
| 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 # |
IGL01800
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110072851-110091644 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 110080218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035058]
[ENSMUST00000196060]
[ENSMUST00000197850]
[ENSMUST00000199736]
|
| AlphaFold |
Q71M36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035058
|
| SMART Domains |
Protein: ENSMUSP00000035058
Gene: ENSMUSG00000032482
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143164
Gene: ENSMUSG00000032482
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143005
Gene: ENSMUSG00000032482
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142845
Gene: ENSMUSG00000032482
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200140
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,772,734 (GRCm39) |
Y48C |
possibly damaging |
Het |
| Acsm3 |
T |
C |
7: 119,373,866 (GRCm39) |
S251P |
possibly damaging |
Het |
| Ano5 |
G |
A |
7: 51,222,823 (GRCm39) |
|
probably null |
Het |
| Ccdc65 |
C |
T |
15: 98,606,946 (GRCm39) |
A51V |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,914,581 (GRCm39) |
V935A |
possibly damaging |
Het |
| Disp3 |
T |
A |
4: 148,334,258 (GRCm39) |
K1012* |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,647,100 (GRCm39) |
N18S |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,301,173 (GRCm39) |
I1180F |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,750,548 (GRCm39) |
Y295C |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,935,122 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,035,878 (GRCm39) |
T3177A |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,746,462 (GRCm39) |
I267F |
probably damaging |
Het |
| Gm5611 |
T |
G |
9: 16,941,767 (GRCm39) |
|
noncoding transcript |
Het |
| Gstcd |
A |
G |
3: 132,790,335 (GRCm39) |
|
probably null |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,104 (GRCm39) |
M476V |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,263,693 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,778,137 (GRCm39) |
F85S |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,427,528 (GRCm39) |
V282M |
probably damaging |
Het |
| Lancl1 |
T |
G |
1: 67,060,029 (GRCm39) |
E132A |
probably benign |
Het |
| Or4g7 |
T |
C |
2: 111,309,209 (GRCm39) |
F27L |
probably benign |
Het |
| Or5b106 |
A |
G |
19: 13,123,993 (GRCm39) |
F10S |
probably damaging |
Het |
| Pigm |
G |
A |
1: 172,204,770 (GRCm39) |
A169T |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,652,063 (GRCm39) |
Y212H |
probably damaging |
Het |
| Ppp1r13l |
A |
T |
7: 19,111,936 (GRCm39) |
|
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,145,650 (GRCm39) |
L373P |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,804,182 (GRCm39) |
I554T |
probably damaging |
Het |
| Sbno1 |
G |
A |
5: 124,519,568 (GRCm39) |
|
probably benign |
Het |
| Sesn2 |
G |
T |
4: 132,226,418 (GRCm39) |
L194I |
probably damaging |
Het |
| Slc26a2 |
A |
T |
18: 61,334,801 (GRCm39) |
Y217* |
probably null |
Het |
| Sptbn5 |
G |
T |
2: 119,886,908 (GRCm39) |
|
probably benign |
Het |
| Tmem184a |
A |
T |
5: 139,798,899 (GRCm39) |
S17T |
possibly damaging |
Het |
| Trhr |
T |
C |
15: 44,092,603 (GRCm39) |
M280T |
possibly damaging |
Het |
| Ube2j1 |
A |
T |
4: 33,045,115 (GRCm39) |
E129D |
probably benign |
Het |
| Ube4b |
A |
T |
4: 149,415,951 (GRCm39) |
S3T |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,601 (GRCm39) |
C710* |
probably null |
Het |
| Vmn2r82 |
C |
T |
10: 79,192,581 (GRCm39) |
R53C |
probably benign |
Het |
| Zdhhc2 |
T |
C |
8: 40,917,284 (GRCm39) |
L227P |
probably damaging |
Het |
| Zfp995 |
A |
C |
17: 22,099,972 (GRCm39) |
H87Q |
possibly damaging |
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 |
|
IGL01516:Cspg5
|
APN |
9 |
110,075,761 (GRCm39) |
missense |
probably benign |
0.37 |
|
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 |
2014-02-04 |
Incidental Mutation