Incidental Mutation 'IGL02040:Gpc2'
| ID |
184716 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpc2
|
| Ensembl Gene |
ENSMUSG00000029510 |
| Gene Name |
glypican 2 cerebroglycan |
| Synonyms |
2410016G05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02040
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
138271917-138278267 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 138274844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014089]
[ENSMUST00000014089]
[ENSMUST00000014089]
[ENSMUST00000048028]
[ENSMUST00000100530]
[ENSMUST00000159067]
[ENSMUST00000161827]
[ENSMUST00000161827]
[ENSMUST00000161827]
[ENSMUST00000161984]
[ENSMUST00000160729]
[ENSMUST00000161647]
[ENSMUST00000161665]
[ENSMUST00000161691]
[ENSMUST00000161279]
[ENSMUST00000162245]
|
| 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 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 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 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 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: ENSMUST00000161984
|
| SMART Domains |
Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
342 |
3.7e-134 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161113
|
| 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 |
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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
T |
G |
5: 3,630,405 (GRCm39) |
F107C |
probably damaging |
Het |
| 4930590J08Rik |
T |
C |
6: 91,895,091 (GRCm39) |
V262A |
probably benign |
Het |
| A830018L16Rik |
T |
A |
1: 12,003,822 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,413,424 (GRCm39) |
V536A |
possibly damaging |
Het |
| Ano6 |
T |
G |
15: 95,853,825 (GRCm39) |
I667R |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
| Azin2 |
G |
T |
4: 128,844,451 (GRCm39) |
L37M |
possibly damaging |
Het |
| Caap1 |
A |
G |
4: 94,438,667 (GRCm39) |
I174T |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,616,585 (GRCm39) |
V46A |
probably benign |
Het |
| Chrna6 |
T |
C |
8: 27,897,289 (GRCm39) |
D196G |
probably damaging |
Het |
| Col19a1 |
A |
G |
1: 24,351,126 (GRCm39) |
|
probably null |
Het |
| Defb22 |
G |
T |
2: 152,331,976 (GRCm39) |
T19K |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,603,558 (GRCm39) |
I2211V |
probably benign |
Het |
| Ecel1 |
A |
C |
1: 87,082,645 (GRCm39) |
C23G |
probably benign |
Het |
| Elmod2 |
A |
G |
8: 84,048,126 (GRCm39) |
V112A |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,531,754 (GRCm39) |
K510E |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,081,694 (GRCm39) |
S1113R |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,971,181 (GRCm39) |
D653E |
possibly damaging |
Het |
| Exd1 |
A |
G |
2: 119,370,546 (GRCm39) |
V54A |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,963,004 (GRCm39) |
|
probably benign |
Het |
| Fnbp1l |
A |
G |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
| Foxf1 |
A |
G |
8: 121,812,084 (GRCm39) |
N316S |
probably damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,218,495 (GRCm39) |
V426A |
probably benign |
Het |
| Hnrnpab |
A |
G |
11: 51,492,622 (GRCm39) |
|
probably benign |
Het |
| Hsf4 |
T |
G |
8: 106,002,299 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
G |
T |
1: 37,435,166 (GRCm39) |
R179L |
probably damaging |
Het |
| Jakmip2 |
T |
A |
18: 43,704,919 (GRCm39) |
M361L |
probably benign |
Het |
| Kif15 |
A |
C |
9: 122,846,450 (GRCm39) |
Y117S |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,765,167 (GRCm39) |
H761R |
probably benign |
Het |
| Masp2 |
G |
T |
4: 148,688,270 (GRCm39) |
C180F |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,910,613 (GRCm39) |
E261G |
probably damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,013,926 (GRCm39) |
I211V |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,024,915 (GRCm39) |
|
probably benign |
Het |
| Or4c121 |
A |
G |
2: 89,023,907 (GRCm39) |
I157T |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,652,614 (GRCm39) |
N44S |
probably damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,910 (GRCm39) |
|
probably benign |
Het |
| Or8j3c |
A |
G |
2: 86,253,336 (GRCm39) |
I228T |
probably damaging |
Het |
| Oxct1 |
G |
A |
15: 4,056,250 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,824,516 (GRCm39) |
|
probably benign |
Het |
| Plbd2 |
C |
T |
5: 120,625,507 (GRCm39) |
S430N |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,270,110 (GRCm39) |
K63R |
probably benign |
Het |
| Pramel19 |
G |
A |
4: 101,798,331 (GRCm39) |
V101I |
possibly damaging |
Het |
| Proc |
A |
T |
18: 32,267,913 (GRCm39) |
V75E |
probably benign |
Het |
| Ptprt |
T |
C |
2: 162,079,992 (GRCm39) |
Y269C |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,447,902 (GRCm39) |
V476A |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,823,623 (GRCm39) |
V41A |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 51,992,018 (GRCm39) |
I1402F |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,358,476 (GRCm39) |
T194I |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,119,452 (GRCm39) |
|
probably benign |
Het |
| Skint4 |
T |
C |
4: 112,003,679 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
A |
2: 29,903,725 (GRCm39) |
S1545T |
probably benign |
Het |
| Tpra1 |
A |
T |
6: 88,887,164 (GRCm39) |
H168L |
possibly damaging |
Het |
| Trim47 |
T |
C |
11: 115,998,734 (GRCm39) |
E295G |
probably damaging |
Het |
| Ttc28 |
T |
A |
5: 111,040,802 (GRCm39) |
C63* |
probably null |
Het |
| Usp45 |
G |
A |
4: 21,830,433 (GRCm39) |
R696H |
probably benign |
Het |
| Zfyve27 |
G |
A |
19: 42,167,830 (GRCm39) |
R124Q |
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 |
|
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 |
|
R6548:Gpc2
|
UTSW |
5 |
138,275,533 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation