Incidental Mutation 'R4361:Gpc2'
| ID |
324904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpc2
|
| Ensembl Gene |
ENSMUSG00000029510 |
| Gene Name |
glypican 2 cerebroglycan |
| Synonyms |
2410016G05Rik |
| MMRRC Submission |
041112-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4361 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138271917-138278267 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 138276552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 191
(C191*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014089]
[ENSMUST00000048028]
[ENSMUST00000159067]
[ENSMUST00000160729]
[ENSMUST00000161827]
[ENSMUST00000161984]
[ENSMUST00000161691]
[ENSMUST00000162245]
|
| AlphaFold |
Q8BKV1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014089
AA Change: C191*
|
| SMART Domains |
Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510
AA Change: C191*
| 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 null
Transcript: ENSMUST00000159067
AA Change: C191*
|
| SMART Domains |
Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247
AA Change: C191*
| 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 |
probably null
Transcript: ENSMUST00000161827
AA Change: C191*
|
| SMART Domains |
Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510
AA Change: C191*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
11 |
566 |
3.1e-199 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161984
AA Change: C191*
|
| SMART Domains |
Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510
AA Change: C191*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
342 |
3.7e-134 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161055
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (61/61) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,688 (GRCm39) |
T538A |
probably damaging |
Het |
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Aadac |
T |
A |
3: 59,947,182 (GRCm39) |
S293R |
probably benign |
Het |
| Cc2d1b |
G |
A |
4: 108,481,947 (GRCm39) |
|
probably benign |
Het |
| Ccdc157 |
C |
T |
11: 4,096,550 (GRCm39) |
A400T |
probably damaging |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,779 (GRCm39) |
V3A |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,865 (GRCm39) |
M232L |
possibly damaging |
Het |
| Dhrs2 |
G |
A |
14: 55,478,646 (GRCm39) |
D264N |
probably damaging |
Het |
| Dram2 |
T |
C |
3: 106,473,531 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
C |
A |
19: 12,462,660 (GRCm39) |
S373I |
probably benign |
Het |
| Eif4a1 |
G |
A |
11: 69,558,290 (GRCm39) |
|
probably benign |
Het |
| Eps15 |
T |
C |
4: 109,237,228 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,362,676 (GRCm39) |
Q235L |
probably damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,880,676 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
C |
T |
5: 71,790,888 (GRCm39) |
|
probably null |
Het |
| Gins1 |
A |
G |
2: 150,767,821 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gm12253 |
T |
A |
11: 58,325,687 (GRCm39) |
S53T |
probably benign |
Het |
| Gne |
C |
A |
4: 44,059,947 (GRCm39) |
A149S |
possibly damaging |
Het |
| Has2 |
G |
T |
15: 56,545,344 (GRCm39) |
A86E |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,870,982 (GRCm39) |
S205T |
probably damaging |
Het |
| Irx5 |
G |
T |
8: 93,085,025 (GRCm39) |
A72S |
probably damaging |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
| Kcnt1 |
A |
T |
2: 25,768,044 (GRCm39) |
Q51L |
probably benign |
Het |
| Klk1b11 |
A |
G |
7: 43,645,378 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
G |
15: 98,761,551 (GRCm39) |
M600L |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,084,482 (GRCm39) |
S172R |
probably damaging |
Het |
| Lrrc37 |
CTTTT |
CTTTTT |
11: 103,508,327 (GRCm39) |
|
probably null |
Het |
| Lrrc46 |
G |
A |
11: 96,925,496 (GRCm39) |
|
probably benign |
Het |
| Mab21l2 |
C |
T |
3: 86,454,497 (GRCm39) |
V168M |
probably damaging |
Het |
| Magea3 |
A |
C |
X: 153,731,850 (GRCm39) |
C218G |
possibly damaging |
Het |
| Magea3 |
C |
A |
X: 153,731,849 (GRCm39) |
C218F |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,563,358 (GRCm39) |
K96E |
probably benign |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Myf6 |
GGGGGCAG |
GG |
10: 107,330,293 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nav1 |
G |
A |
1: 135,535,175 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,688,847 (GRCm39) |
K477E |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,794,921 (GRCm39) |
H862L |
probably damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,495,037 (GRCm39) |
S1608* |
probably null |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Ren1 |
A |
G |
1: 133,286,779 (GRCm39) |
I303V |
probably benign |
Het |
| Retreg3 |
T |
A |
11: 100,994,713 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
C |
A |
5: 146,148,089 (GRCm39) |
V310F |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,923,064 (GRCm39) |
A169V |
probably null |
Het |
| Slc4a10 |
T |
C |
2: 62,073,729 (GRCm39) |
S264P |
probably benign |
Het |
| Tex26 |
A |
T |
5: 149,384,388 (GRCm39) |
Q102L |
probably benign |
Het |
| Tex38 |
A |
G |
4: 115,637,420 (GRCm39) |
S128P |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,311,626 (GRCm39) |
|
probably benign |
Het |
| Tyr |
G |
T |
7: 87,078,284 (GRCm39) |
H525Q |
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,066,737 (GRCm39) |
N417S |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,683,764 (GRCm39) |
S331T |
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 |
|
|
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'- TCACCAAGTCAGAGAAGGCC -3'
(R):5'- ATGGTCGCCTGTATTCCCAG -3'
Sequencing Primer
(F):5'- CCAAGATAGAGGCCATGAGGTC -3'
(R):5'- GCACGCCGTCATCTTCAATAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation