Incidental Mutation 'IGL00778:Prg3'
| ID |
10350 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prg3
|
| Ensembl Gene |
ENSMUSG00000027072 |
| Gene Name |
proteoglycan 3 |
| Synonyms |
major basic protein 2, MBP2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00778
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
84818559-84824230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84824076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 212
(C212Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028465]
[ENSMUST00000028466]
[ENSMUST00000111613]
|
| AlphaFold |
Q9JL95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028465
|
| SMART Domains |
Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
8 |
367 |
1.6e-151 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028466
AA Change: C212Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028466
Gene: ENSMUSG00000027072
AA Change: C212Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
CLECT
|
90 |
221 |
2.29e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111613
|
| SMART Domains |
Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
8 |
372 |
4.7e-162 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135939
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
G |
A |
14: 44,401,391 (GRCm39) |
H152Y |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,086,132 (GRCm39) |
D457G |
probably benign |
Het |
| Atp8a1 |
T |
G |
5: 67,817,246 (GRCm39) |
K913N |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,841,917 (GRCm39) |
S321N |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,363,470 (GRCm39) |
N264D |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,387,109 (GRCm39) |
C1724S |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,109,113 (GRCm39) |
S397P |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Csgalnact2 |
A |
T |
6: 118,103,233 (GRCm39) |
M1K |
probably null |
Het |
| Enpp3 |
C |
A |
10: 24,674,160 (GRCm39) |
C380F |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,266,546 (GRCm39) |
R967W |
probably damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,066,856 (GRCm39) |
D472E |
unknown |
Het |
| Klhl28 |
A |
T |
12: 64,996,840 (GRCm39) |
D500E |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,148,321 (GRCm39) |
|
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,911,900 (GRCm39) |
I308V |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,190,868 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
C |
T |
4: 6,435,056 (GRCm39) |
|
probably null |
Het |
| Padi6 |
T |
A |
4: 140,454,934 (GRCm39) |
I668L |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,768,150 (GRCm39) |
I393T |
possibly damaging |
Het |
| Pwp1 |
T |
C |
10: 85,715,752 (GRCm39) |
V267A |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,953,468 (GRCm39) |
Q79K |
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,745,697 (GRCm39) |
S270P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,818 (GRCm39) |
E39G |
probably damaging |
Het |
| Strada |
A |
G |
11: 106,061,976 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,855,500 (GRCm39) |
|
probably benign |
Het |
| Zic3 |
A |
G |
X: 57,079,779 (GRCm39) |
Y424C |
probably damaging |
Het |
|
| Other mutations in Prg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Prg3
|
APN |
2 |
84,819,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03352:Prg3
|
APN |
2 |
84,823,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3763:Prg3
|
UTSW |
2 |
84,823,334 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4721:Prg3
|
UTSW |
2 |
84,821,750 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7104:Prg3
|
UTSW |
2 |
84,819,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7183:Prg3
|
UTSW |
2 |
84,823,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Prg3
|
UTSW |
2 |
84,821,848 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7574:Prg3
|
UTSW |
2 |
84,819,746 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8308:Prg3
|
UTSW |
2 |
84,819,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8559:Prg3
|
UTSW |
2 |
84,819,680 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2012-12-06 |
Incidental Mutation