Incidental Mutation 'R4177:Gpc2'
| ID |
319554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpc2
|
| Ensembl Gene |
ENSMUSG00000029510 |
| Gene Name |
glypican 2 cerebroglycan |
| Synonyms |
2410016G05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4177 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138271917-138278267 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 138275621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014089]
[ENSMUST00000048028]
[ENSMUST00000100530]
[ENSMUST00000159067]
[ENSMUST00000161665]
[ENSMUST00000162245]
[ENSMUST00000160729]
[ENSMUST00000161827]
[ENSMUST00000161647]
[ENSMUST00000161279]
[ENSMUST00000161691]
[ENSMUST00000161984]
|
| AlphaFold |
Q8BKV1 |
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000161055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161113
|
| 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: 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 |
probably benign
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: 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: 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: 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (46/46) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aicda |
A |
T |
6: 122,538,043 (GRCm39) |
D67V |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,158,510 (GRCm39) |
R182G |
probably null |
Het |
| Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
| Bscl2 |
A |
G |
19: 8,817,120 (GRCm39) |
D16G |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,294 (GRCm39) |
V506A |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,400,816 (GRCm39) |
Q441L |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,937,663 (GRCm39) |
M700K |
possibly damaging |
Het |
| Dhcr7 |
A |
G |
7: 143,394,910 (GRCm39) |
Y142C |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,962,394 (GRCm39) |
M602T |
probably benign |
Het |
| Dysf |
C |
T |
6: 84,044,013 (GRCm39) |
R254* |
probably null |
Het |
| Ednra |
A |
C |
8: 78,401,677 (GRCm39) |
I204M |
possibly damaging |
Het |
| Fabp2 |
A |
G |
3: 122,690,547 (GRCm39) |
T77A |
possibly damaging |
Het |
| Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
| Gnb1 |
T |
C |
4: 155,625,113 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,732,280 (GRCm39) |
|
probably benign |
Het |
| Lypla2 |
T |
C |
4: 135,696,403 (GRCm39) |
|
probably benign |
Het |
| Maf |
A |
T |
8: 116,433,210 (GRCm39) |
Y131* |
probably null |
Het |
| Mfsd4a |
T |
A |
1: 131,968,295 (GRCm39) |
H335L |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,302 (GRCm39) |
Y122H |
probably damaging |
Het |
| Myo10 |
A |
T |
15: 25,734,137 (GRCm39) |
Q342L |
possibly damaging |
Het |
| N4bp2 |
A |
G |
5: 65,955,513 (GRCm39) |
|
probably null |
Het |
| Or5t15 |
A |
T |
2: 86,681,745 (GRCm39) |
M99K |
possibly damaging |
Het |
| Pomt1 |
A |
G |
2: 32,138,689 (GRCm39) |
N435S |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,860,203 (GRCm39) |
I257V |
probably benign |
Het |
| Rab9 |
G |
T |
X: 165,241,296 (GRCm39) |
S5* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,327,083 (GRCm39) |
Y59N |
probably damaging |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,532,616 (GRCm39) |
T462M |
possibly damaging |
Het |
| Selenoo |
C |
T |
15: 88,983,662 (GRCm39) |
|
probably benign |
Het |
| Sptb |
G |
C |
12: 76,659,953 (GRCm39) |
D982E |
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
| Ubald1 |
A |
G |
16: 4,693,745 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
T |
C |
10: 71,094,033 (GRCm39) |
K101R |
probably damaging |
Het |
| Unc5cl |
A |
G |
17: 48,769,298 (GRCm39) |
T261A |
probably benign |
Het |
| Zcwpw1 |
G |
T |
5: 137,798,395 (GRCm39) |
K197N |
probably damaging |
Het |
| Zfp268 |
T |
C |
4: 145,347,225 (GRCm39) |
L43S |
probably damaging |
Het |
| Zfyve19 |
A |
G |
2: 119,046,693 (GRCm39) |
T296A |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGGGTTCACTCCAATCTC -3'
(R):5'- TGTATCACCCAACAGTGTACCC -3'
Sequencing Primer
(F):5'- GGGGTTCACTCCAATCTCAAACTG -3'
(R):5'- AGTGTACCCTCCCCAAGTTAATC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation