Incidental Mutation 'R6548:Gpc2'
| ID |
521353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpc2
|
| Ensembl Gene |
ENSMUSG00000029510 |
| Gene Name |
glypican 2 cerebroglycan |
| Synonyms |
2410016G05Rik |
| MMRRC Submission |
044673-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6548 (G1)
|
| Quality Score |
166.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138271917-138278267 bp(-) (GRCm39) |
| Type of Mutation |
splice site (136 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 138275533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014089]
[ENSMUST00000048028]
[ENSMUST00000100530]
[ENSMUST00000159067]
[ENSMUST00000161827]
[ENSMUST00000162245]
[ENSMUST00000160729]
[ENSMUST00000161279]
[ENSMUST00000161665]
[ENSMUST00000161647]
[ENSMUST00000161691]
[ENSMUST00000161984]
|
| AlphaFold |
Q8BKV1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014089
|
| SMART Domains |
Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
560 |
2.8e-186 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048028
|
| SMART Domains |
Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
188 |
301 |
3.1e-38 |
PFAM |
|
low complexity region
|
633 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1114 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1151 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100530
|
| SMART Domains |
Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
2 |
231 |
1.1e-57 |
PFAM |
|
Pfam:Gal-3-0_sulfotr
|
270 |
463 |
1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159067
|
| SMART Domains |
Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
250 |
1e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159689
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161827
|
| SMART Domains |
Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
11 |
566 |
3.1e-199 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162245
|
| SMART Domains |
Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
185 |
304 |
4e-50 |
PFAM |
|
low complexity region
|
633 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1114 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1151 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160729
|
| SMART Domains |
Protein: ENSMUSP00000124170
Gene: ENSMUSG00000036928
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161279
|
| SMART Domains |
Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
2 |
231 |
1.1e-57 |
PFAM |
|
Pfam:Gal-3-0_sulfotr
|
270 |
463 |
1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161665
|
| SMART Domains |
Protein: ENSMUSP00000124682
Gene: ENSMUSG00000075593
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161647
|
| SMART Domains |
Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
4 |
226 |
5.3e-58 |
PFAM |
|
Pfam:Gal-3-0_sulfotr
|
265 |
458 |
3.8e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161691
|
| SMART Domains |
Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161984
|
| SMART Domains |
Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
342 |
3.7e-134 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
93% (38/41) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
C |
10: 43,050,769 (GRCm39) |
L21P |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,728,240 (GRCm39) |
A642V |
probably damaging |
Het |
| Bap1 |
A |
G |
14: 30,978,182 (GRCm39) |
N349S |
probably benign |
Het |
| Brca1 |
G |
T |
11: 101,415,591 (GRCm39) |
Q32K |
probably damaging |
Het |
| Ccdc39 |
A |
T |
3: 33,892,108 (GRCm39) |
N121K |
probably benign |
Het |
| Champ1 |
A |
T |
8: 13,930,002 (GRCm39) |
N720I |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,252,886 (GRCm39) |
R216* |
probably null |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,619 (GRCm39) |
|
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,010,047 (GRCm39) |
V804E |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,791,343 (GRCm39) |
N868S |
probably benign |
Het |
| Gm10376 |
T |
C |
14: 42,873,025 (GRCm39) |
M1V |
probably null |
Het |
| Gpr37 |
G |
A |
6: 25,688,812 (GRCm39) |
T95I |
probably benign |
Het |
| Ints3 |
G |
A |
3: 90,299,431 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,839 (GRCm39) |
E334G |
probably damaging |
Het |
| Lrrc75a |
T |
A |
11: 62,496,921 (GRCm39) |
T214S |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,385,202 (GRCm39) |
I81V |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,871,998 (GRCm39) |
L342Q |
probably damaging |
Het |
| Mug2 |
C |
T |
6: 122,024,401 (GRCm39) |
A491V |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
| Net1 |
C |
T |
13: 3,936,074 (GRCm39) |
|
probably null |
Het |
| Or52s1 |
T |
A |
7: 102,861,111 (GRCm39) |
Y4N |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,122,423 (GRCm39) |
T245A |
probably benign |
Het |
| Platr25 |
A |
T |
13: 62,821,623 (GRCm39) |
I110N |
possibly damaging |
Het |
| Plk5 |
T |
A |
10: 80,198,879 (GRCm39) |
L412H |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,812,790 (GRCm39) |
T605S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,683,707 (GRCm39) |
D3119V |
probably damaging |
Het |
| Serpina1a |
G |
T |
12: 103,820,017 (GRCm39) |
H387N |
probably benign |
Het |
| Serpina1d |
G |
T |
12: 103,733,811 (GRCm39) |
N164K |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,836,307 (GRCm39) |
Y69H |
probably damaging |
Het |
| Sod2 |
A |
G |
17: 13,227,250 (GRCm39) |
K68R |
probably benign |
Het |
| Ssbp2 |
A |
G |
13: 91,687,470 (GRCm39) |
N51S |
possibly damaging |
Het |
| Tcl1b1 |
A |
G |
12: 105,130,663 (GRCm39) |
R49G |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,350 (GRCm39) |
I214M |
probably benign |
Het |
| Tln1 |
A |
G |
4: 43,547,525 (GRCm39) |
I812T |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,577,419 (GRCm39) |
C110S |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,930,867 (GRCm39) |
F393L |
probably damaging |
Het |
| Vmn1r62 |
G |
A |
7: 5,678,769 (GRCm39) |
G150D |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,046,899 (GRCm39) |
Q651K |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,911,322 (GRCm39) |
T905A |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,285,109 (GRCm39) |
F2382S |
probably damaging |
Het |
|
| Other mutations in Gpc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Gpc2
|
APN |
5 |
138,272,571 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00938:Gpc2
|
APN |
5 |
138,277,169 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01315:Gpc2
|
APN |
5 |
138,274,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01583:Gpc2
|
APN |
5 |
138,273,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01590:Gpc2
|
APN |
5 |
138,272,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02040:Gpc2
|
APN |
5 |
138,274,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02322:Gpc2
|
APN |
5 |
138,274,499 (GRCm39) |
splice site |
probably null |
|
|
IGL02655:Gpc2
|
APN |
5 |
138,277,187 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0638:Gpc2
|
UTSW |
5 |
138,276,796 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1004:Gpc2
|
UTSW |
5 |
138,276,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Gpc2
|
UTSW |
5 |
138,276,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4177:Gpc2
|
UTSW |
5 |
138,275,621 (GRCm39) |
unclassified |
probably benign |
|
|
R4361:Gpc2
|
UTSW |
5 |
138,276,552 (GRCm39) |
nonsense |
probably null |
|
|
R5178:Gpc2
|
UTSW |
5 |
138,273,867 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5250:Gpc2
|
UTSW |
5 |
138,277,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5365:Gpc2
|
UTSW |
5 |
138,273,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Gpc2
|
UTSW |
5 |
138,276,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6985:Gpc2
|
UTSW |
5 |
138,276,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:Gpc2
|
UTSW |
5 |
138,277,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7821:Gpc2
|
UTSW |
5 |
138,274,559 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8460:Gpc2
|
UTSW |
5 |
138,274,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9043:Gpc2
|
UTSW |
5 |
138,277,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9124:Gpc2
|
UTSW |
5 |
138,274,784 (GRCm39) |
unclassified |
probably benign |
|
|
R9287:Gpc2
|
UTSW |
5 |
138,272,586 (GRCm39) |
missense |
unknown |
|
|
R9439:Gpc2
|
UTSW |
5 |
138,277,248 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCAGGGCCAAGAGTGAGC -3'
(R):5'- TTCCTCCAGATATCCAGGGCAC -3'
Sequencing Primer
(F):5'- GCCAAGAGTGAGCTTAGGC -3'
(R):5'- GCCTTGGTCCAGGGTCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation