Incidental Mutation 'R1004:Gpc2'
| ID |
97940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpc2
|
| Ensembl Gene |
ENSMUSG00000029510 |
| Gene Name |
glypican 2 cerebroglycan |
| Synonyms |
2410016G05Rik |
| MMRRC Submission |
039114-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1004 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138271917-138278267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138276487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 213
(L213P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014089]
[ENSMUST00000048028]
[ENSMUST00000159067]
[ENSMUST00000160729]
[ENSMUST00000161827]
[ENSMUST00000161984]
[ENSMUST00000162245]
[ENSMUST00000161691]
|
| AlphaFold |
Q8BKV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014089
AA Change: L213P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510
AA Change: L213P
| 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 |
possibly damaging
Transcript: ENSMUST00000159067
AA Change: L213P
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247
AA Change: L213P
| 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 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 |
possibly damaging
Transcript: ENSMUST00000161827
AA Change: L213P
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510
AA Change: L213P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
11 |
566 |
3.1e-199 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161984
AA Change: L213P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510
AA Change: L213P
| 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: ENSMUST00000161113
|
| 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: ENSMUST00000161691
|
| SMART Domains |
Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8831 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,042,780 (GRCm39) |
I423T |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,780,386 (GRCm39) |
E453V |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,063,421 (GRCm39) |
M108V |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,337,034 (GRCm39) |
I831T |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,586 (GRCm39) |
M1215T |
unknown |
Het |
| Cd163 |
G |
T |
6: 124,302,306 (GRCm39) |
D957Y |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,370 (GRCm39) |
D200G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,558 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,888,671 (GRCm39) |
|
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
| Dpp4 |
T |
A |
2: 62,162,984 (GRCm39) |
Q754L |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,653,550 (GRCm39) |
T100A |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,677,544 (GRCm39) |
V779M |
possibly damaging |
Het |
| Gatm |
C |
T |
2: 122,440,141 (GRCm39) |
|
probably benign |
Het |
| Hook1 |
A |
C |
4: 95,910,524 (GRCm39) |
N713H |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,516,642 (GRCm39) |
I178K |
possibly damaging |
Het |
| Mettl9 |
G |
A |
7: 120,675,460 (GRCm39) |
V287I |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,378,353 (GRCm39) |
T3774I |
probably benign |
Het |
| Nup58 |
C |
A |
14: 60,484,930 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
A |
T |
19: 8,741,681 (GRCm39) |
T119S |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,342,350 (GRCm39) |
H102L |
probably damaging |
Het |
| Or8g2b |
T |
C |
9: 39,751,276 (GRCm39) |
F182S |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,789 (GRCm39) |
Q680L |
probably benign |
Het |
| Poli |
T |
A |
18: 70,658,509 (GRCm39) |
Q75L |
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,075,829 (GRCm39) |
|
probably null |
Het |
| Prr30 |
A |
G |
14: 101,436,529 (GRCm39) |
L11P |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,688,493 (GRCm39) |
Y345F |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,579,757 (GRCm39) |
N1233S |
probably benign |
Het |
| Serpinb9f |
TA |
"TTTNA,T" |
13: 33,518,225 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
G |
C |
11: 52,128,207 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,320,786 (GRCm39) |
K528R |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,763 (GRCm39) |
N35S |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,558 (GRCm39) |
D132E |
probably benign |
Het |
| Xrcc5 |
A |
G |
1: 72,422,937 (GRCm39) |
|
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,169 (GRCm39) |
L266Q |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,103 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGAGATGGGGATCACCAAGTC -3'
(R):5'- CCAGCACGCCGTCATCTTCAATAG -3'
Sequencing Primer
(F):5'- ATCACCAAGTCAGAGAAGGC -3'
(R):5'- CTACTATGAGAAGTCTGGCGAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation