Incidental Mutation 'IGL00338:Gp5'
ID |
332329 |
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 # |
IGL00338
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
30126503-30129597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 30127640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 345
(A345S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061190]
[ENSMUST00000061350]
[ENSMUST00000100013]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061190
AA Change: A345S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000051895 Gene: ENSMUSG00000047953 AA Change: A345S
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd11 |
A |
G |
5: 135,040,839 (GRCm39) |
D217G |
probably benign |
Het |
Ankar |
T |
A |
1: 72,729,290 (GRCm39) |
Y285F |
probably damaging |
Het |
Ano8 |
C |
A |
8: 71,936,902 (GRCm39) |
|
probably benign |
Het |
Bche |
A |
G |
3: 73,608,640 (GRCm39) |
V262A |
probably benign |
Het |
Car13 |
T |
C |
3: 14,721,964 (GRCm39) |
|
probably benign |
Het |
Cd244a |
T |
A |
1: 171,401,938 (GRCm39) |
|
probably null |
Het |
Cfap157 |
T |
C |
2: 32,671,395 (GRCm39) |
D137G |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,325,813 (GRCm39) |
R119G |
possibly damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gp2 |
A |
G |
7: 119,053,613 (GRCm39) |
M116T |
probably damaging |
Het |
Gphn |
A |
T |
12: 78,551,406 (GRCm39) |
I285F |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,867,040 (GRCm39) |
|
probably benign |
Het |
Hydin |
C |
A |
8: 111,296,434 (GRCm39) |
N3654K |
possibly damaging |
Het |
Inpp5b |
A |
G |
4: 124,678,168 (GRCm39) |
Y440C |
possibly damaging |
Het |
Or4a47 |
A |
T |
2: 89,665,802 (GRCm39) |
Y162* |
probably null |
Het |
Pphln1 |
A |
G |
15: 93,363,091 (GRCm39) |
K306E |
probably damaging |
Het |
Rnf26 |
A |
C |
9: 44,024,156 (GRCm39) |
S31A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,001,907 (GRCm39) |
S1072T |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,065,643 (GRCm39) |
W304R |
probably damaging |
Het |
Slc22a14 |
A |
G |
9: 119,007,579 (GRCm39) |
F277L |
possibly damaging |
Het |
Slc22a26 |
A |
T |
19: 7,760,340 (GRCm39) |
L468I |
probably benign |
Het |
Tchh |
C |
T |
3: 93,354,951 (GRCm39) |
L1464F |
unknown |
Het |
Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,804,409 (GRCm39) |
S288P |
probably damaging |
Het |
Usp17lc |
A |
G |
7: 103,068,148 (GRCm39) |
H481R |
possibly damaging |
Het |
Vps50 |
C |
T |
6: 3,602,670 (GRCm39) |
T929M |
probably benign |
Het |
Zdhhc8 |
A |
G |
16: 18,043,060 (GRCm39) |
L380P |
possibly damaging |
Het |
|
Other mutations in Gp5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00833:Gp5
|
APN |
16 |
30,128,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
2015-08-05 |