Incidental Mutation 'IGL01284:Gp5'
| ID |
72655 |
| 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 # |
IGL01284
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
30126503-30129597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30128028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 215
(S215R)
|
| 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: S215R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000051895
Gene: ENSMUSG00000047953
AA Change: S215R
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
T |
6: 86,827,035 (GRCm39) |
M1L |
possibly damaging |
Het |
| Agr2 |
A |
G |
12: 36,045,580 (GRCm39) |
D22G |
possibly damaging |
Het |
| C9orf72 |
A |
T |
4: 35,218,808 (GRCm39) |
I17N |
probably damaging |
Het |
| Cck |
G |
T |
9: 121,319,236 (GRCm39) |
N82K |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,301,876 (GRCm39) |
I402N |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,671,491 (GRCm39) |
D105G |
possibly damaging |
Het |
| Dhx9 |
C |
A |
1: 153,340,644 (GRCm39) |
L665F |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,196,265 (GRCm39) |
E1621G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,009 (GRCm39) |
Y713C |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,988,099 (GRCm39) |
S271G |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,056,928 (GRCm39) |
M647T |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,698,464 (GRCm39) |
E515G |
probably damaging |
Het |
| Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,851,854 (GRCm39) |
P219S |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,326 (GRCm39) |
S26P |
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,467,482 (GRCm39) |
R293K |
possibly damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,259,494 (GRCm39) |
Y165D |
possibly damaging |
Het |
| Pik3ca |
C |
T |
3: 32,516,733 (GRCm39) |
A987V |
probably damaging |
Het |
| Pomp |
T |
A |
5: 147,797,491 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
G |
5: 28,615,707 (GRCm39) |
T17A |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,058,664 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,277,532 (GRCm39) |
A334T |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,256,916 (GRCm39) |
F1587L |
probably damaging |
Het |
| Tex29 |
C |
A |
8: 11,894,231 (GRCm39) |
Y46* |
probably null |
Het |
| Tgm5 |
A |
G |
2: 120,883,028 (GRCm39) |
S410P |
possibly damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,107,372 (GRCm39) |
Y714H |
possibly damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,994,258 (GRCm39) |
R468Q |
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 |
|
IGL00833:Gp5
|
APN |
16 |
30,128,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
2013-10-07 |
Incidental Mutation