Incidental Mutation 'R5474:Cspg5'
| ID |
433978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cspg5
|
| Ensembl Gene |
ENSMUSG00000032482 |
| Gene Name |
chondroitin sulfate proteoglycan 5 |
| Synonyms |
CALEB, NGC, neuroglycan C |
| MMRRC Submission |
043035-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
R5474 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110072851-110091644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110080076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 334
(I334F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035058]
[ENSMUST00000196060]
[ENSMUST00000197850]
[ENSMUST00000199736]
|
| AlphaFold |
Q71M36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035058
AA Change: I415F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035058
Gene: ENSMUSG00000032482
AA Change: I415F
| 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 damaging
Transcript: ENSMUST00000196060
AA Change: I415F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143164
Gene: ENSMUSG00000032482
AA Change: I415F
| 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 damaging
Transcript: ENSMUST00000197850
AA Change: I415F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143005
Gene: ENSMUSG00000032482
AA Change: I415F
| 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 damaging
Transcript: ENSMUST00000199736
AA Change: I334F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142845
Gene: ENSMUSG00000032482
AA Change: I334F
| 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 |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 90.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
T |
12: 118,904,425 (GRCm39) |
G122S |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,926 (GRCm39) |
D461G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,725,634 (GRCm39) |
I2119T |
probably benign |
Het |
| Bud13 |
G |
C |
9: 46,199,251 (GRCm39) |
R204T |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,989,706 (GRCm39) |
S116P |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,536 (GRCm39) |
Y326C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,313,436 (GRCm39) |
A350T |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,797,009 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,873,641 (GRCm39) |
W98R |
probably damaging |
Het |
| Duox1 |
A |
T |
2: 122,177,106 (GRCm39) |
Q1511L |
probably benign |
Het |
| Gtdc1 |
A |
T |
2: 44,646,379 (GRCm39) |
L83Q |
probably damaging |
Het |
| H2-T3 |
G |
A |
17: 36,500,999 (GRCm39) |
P6S |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,546 (GRCm39) |
C92R |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,249,583 (GRCm39) |
V923A |
unknown |
Het |
| Kcnc4 |
A |
T |
3: 107,355,207 (GRCm39) |
S414T |
possibly damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,571 (GRCm39) |
M278K |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,783,943 (GRCm39) |
S424T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,581,635 (GRCm39) |
S2500N |
unknown |
Het |
| Ncs1 |
A |
T |
2: 31,170,796 (GRCm39) |
N70Y |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,363,109 (GRCm39) |
R923L |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,963,170 (GRCm39) |
I246M |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,523,401 (GRCm39) |
S275F |
probably damaging |
Het |
| Or6a2 |
T |
A |
7: 106,600,296 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or8g51 |
T |
A |
9: 38,609,609 (GRCm39) |
T18S |
possibly damaging |
Het |
| Polb |
A |
G |
8: 23,120,386 (GRCm39) |
Y296H |
probably benign |
Het |
| Prrc2a |
A |
T |
17: 35,378,189 (GRCm39) |
F440L |
unknown |
Het |
| Prrc2c |
T |
C |
1: 162,537,213 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,409,158 (GRCm39) |
L247* |
probably null |
Het |
| Scfd2 |
C |
T |
5: 74,692,025 (GRCm39) |
V86I |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,996,382 (GRCm39) |
T443A |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,195,221 (GRCm39) |
V138A |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,950 (GRCm39) |
D524G |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,571,737 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,582,150 (GRCm39) |
S513N |
probably damaging |
Het |
| Zfp84 |
C |
T |
7: 29,476,514 (GRCm39) |
S402L |
probably damaging |
Het |
| Zfta |
A |
T |
19: 7,397,524 (GRCm39) |
R24W |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGGTCTGTTCAGACTGG -3'
(R):5'- AACTTTTAGCATGAGCCAAAGG -3'
Sequencing Primer
(F):5'- CTGTTCAGACTGGGGCTGC -3'
(R):5'- CTAGAGAACAGGTGCCAGACC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation