Incidental Mutation 'IGL00833:Gp5'
| ID |
11072 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gp5
|
| Ensembl Gene |
ENSMUSG00000047953 |
| Gene Name |
glycoprotein 5 platelet |
| Synonyms |
GPV, GP V |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
30126503-30129597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30128284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 130
(D130G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061190]
[ENSMUST00000061350]
[ENSMUST00000100013]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061190
AA Change: D130G
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051895
Gene: ENSMUSG00000047953
AA Change: D130G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Blast:LRRNT
|
20 |
54 |
3e-17 |
BLAST |
|
LRR
|
73 |
96 |
2.14e0 |
SMART |
|
LRR_TYP
|
97 |
120 |
3.11e-2 |
SMART |
|
LRR_TYP
|
121 |
144 |
8.81e-2 |
SMART |
|
LRR_TYP
|
145 |
168 |
1.28e-3 |
SMART |
|
LRR_TYP
|
169 |
192 |
1.38e-3 |
SMART |
|
LRR
|
194 |
216 |
2.14e1 |
SMART |
|
LRR_TYP
|
217 |
240 |
1.12e-3 |
SMART |
|
LRR_TYP
|
241 |
264 |
2.95e-3 |
SMART |
|
LRR
|
265 |
288 |
3.76e1 |
SMART |
|
LRR_TYP
|
289 |
312 |
3.83e-2 |
SMART |
|
LRR
|
313 |
337 |
2.29e0 |
SMART |
|
LRR_TYP
|
338 |
361 |
8.22e-2 |
SMART |
|
LRR_TYP
|
362 |
385 |
9.08e-4 |
SMART |
|
LRR_TYP
|
386 |
409 |
2.75e-3 |
SMART |
|
LRRCT
|
421 |
473 |
8.98e-4 |
SMART |
|
transmembrane domain
|
519 |
541 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061350
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
13 |
139 |
4.9e-30 |
PFAM |
|
Cation_ATPase_N
|
154 |
227 |
7.24e0 |
SMART |
|
Pfam:E1-E2_ATPase
|
232 |
483 |
5.1e-36 |
PFAM |
|
Pfam:HAD
|
491 |
888 |
7.5e-28 |
PFAM |
|
Pfam:Hydrolase_like2
|
607 |
661 |
6.8e-8 |
PFAM |
|
Pfam:Hydrolase
|
612 |
790 |
6.5e-11 |
PFAM |
|
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
|
transmembrane domain
|
963 |
985 |
N/A |
INTRINSIC |
|
transmembrane domain
|
997 |
1019 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1068 |
1085 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1098 |
1120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1135 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100013
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
13 |
146 |
2.9e-38 |
PFAM |
|
Cation_ATPase_N
|
154 |
227 |
7.24e0 |
SMART |
|
Pfam:E1-E2_ATPase
|
232 |
483 |
7.3e-41 |
PFAM |
|
Pfam:Hydrolase
|
488 |
784 |
1.3e-12 |
PFAM |
|
Pfam:HAD
|
491 |
888 |
1.3e-31 |
PFAM |
|
Pfam:Cation_ATPase
|
612 |
660 |
4.5e-7 |
PFAM |
|
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
|
transmembrane domain
|
963 |
985 |
N/A |
INTRINSIC |
|
transmembrane domain
|
997 |
1019 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1068 |
1085 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1098 |
1120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1135 |
1157 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygotes for one null allele develop normally with no spontaneous bleeding while their platelets show normal thrombin responsiveness and lack a Bernard-Soulier phenotype. In contrast, homozygotes for a second null allele show a shorter bleeding time and platelet hyperresponsiveness to thrombin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
A |
G |
11: 61,108,006 (GRCm39) |
E350G |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,060,101 (GRCm39) |
V2861A |
probably benign |
Het |
| Bpifb9a |
C |
T |
2: 154,106,195 (GRCm39) |
Q358* |
probably null |
Het |
| Cbfa2t2 |
T |
A |
2: 154,370,795 (GRCm39) |
Y423N |
probably damaging |
Het |
| Cd209e |
A |
C |
8: 3,902,800 (GRCm39) |
M102R |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,122,004 (GRCm39) |
V173D |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 118,143,315 (GRCm39) |
F443L |
probably damaging |
Het |
| Exoc4 |
G |
A |
6: 33,948,859 (GRCm39) |
E901K |
probably damaging |
Het |
| H2-T3 |
T |
G |
17: 36,497,933 (GRCm39) |
S327R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,246,060 (GRCm39) |
I417T |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,459,933 (GRCm39) |
V377A |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,964,320 (GRCm39) |
I132V |
probably benign |
Het |
| Nckap5 |
C |
A |
1: 125,954,889 (GRCm39) |
K622N |
probably damaging |
Het |
| Nlrp4e |
G |
A |
7: 23,039,896 (GRCm39) |
V740I |
probably benign |
Het |
| Polr3gl |
T |
G |
3: 96,485,876 (GRCm39) |
D130A |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,006,230 (GRCm39) |
K784R |
possibly damaging |
Het |
| Sycp1 |
A |
G |
3: 102,783,617 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
T |
15: 66,560,650 (GRCm39) |
T1004I |
probably benign |
Het |
| Tmco5b |
T |
A |
2: 113,127,194 (GRCm39) |
I255N |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
| Zeb1 |
A |
G |
18: 5,767,774 (GRCm39) |
T762A |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,649 (GRCm39) |
E296G |
probably damaging |
Het |
|
| Other mutations in Gp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Gp5
|
APN |
16 |
30,127,640 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01284:Gp5
|
APN |
16 |
30,128,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01739:Gp5
|
APN |
16 |
30,127,459 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02009:Gp5
|
APN |
16 |
30,128,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02339:Gp5
|
APN |
16 |
30,128,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03120:Gp5
|
APN |
16 |
30,127,016 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0677:Gp5
|
UTSW |
16 |
30,127,193 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4944:Gp5
|
UTSW |
16 |
30,128,326 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7365:Gp5
|
UTSW |
16 |
30,127,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8923:Gp5
|
UTSW |
16 |
30,128,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Gp5
|
UTSW |
16 |
30,127,976 (GRCm39) |
missense |
|
|
|
R9284:Gp5
|
UTSW |
16 |
30,127,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Gp5
|
UTSW |
16 |
30,127,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9582:Gp5
|
UTSW |
16 |
30,127,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9614:Gp5
|
UTSW |
16 |
30,128,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Gp5
|
UTSW |
16 |
30,128,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Gp5
|
UTSW |
16 |
30,128,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Gp5
|
UTSW |
16 |
30,128,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation