Incidental Mutation 'R0677:Gp5'
| ID |
61690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gp5
|
| Ensembl Gene |
ENSMUSG00000047953 |
| Gene Name |
glycoprotein 5 platelet |
| Synonyms |
GPV, GP V |
| MMRRC Submission |
038862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0677 (G1)
|
| Quality Score |
123 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
30126503-30129597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30127193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 494
(S494P)
|
| 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: S494P
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000051895
Gene: ENSMUSG00000047953
AA Change: S494P
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
G |
A |
6: 132,603,520 (GRCm39) |
Q79* |
probably null |
Het |
| Apol8 |
A |
C |
15: 77,634,051 (GRCm39) |
I175S |
probably damaging |
Het |
| BC004004 |
T |
C |
17: 29,517,638 (GRCm39) |
F284S |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,414,191 (GRCm39) |
R875C |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,058,814 (GRCm39) |
N261T |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,544 (GRCm39) |
C334* |
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,888,992 (GRCm39) |
Y197* |
probably null |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,945 (GRCm39) |
D460E |
possibly damaging |
Het |
| Mrgpra4 |
C |
T |
7: 47,630,728 (GRCm39) |
S291N |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,585,004 (GRCm39) |
P367S |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,261 (GRCm39) |
V43F |
probably benign |
Het |
| Ndst2 |
G |
A |
14: 20,779,647 (GRCm39) |
R198W |
probably benign |
Het |
| Ogdhl |
A |
T |
14: 32,061,882 (GRCm39) |
H500L |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or6c2b |
T |
A |
10: 128,947,947 (GRCm39) |
M116L |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,594,454 (GRCm39) |
G1220S |
probably benign |
Het |
| Slc26a4 |
A |
G |
12: 31,599,910 (GRCm39) |
|
probably null |
Het |
| Spata31g1 |
T |
A |
4: 42,970,952 (GRCm39) |
L59* |
probably null |
Het |
| Sytl1 |
A |
T |
4: 132,980,536 (GRCm39) |
C551S |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,664,925 (GRCm39) |
N256D |
probably benign |
Het |
| Vmn2r114 |
T |
G |
17: 23,529,568 (GRCm39) |
D178A |
probably damaging |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,221,577 (GRCm39) |
L685P |
probably damaging |
Het |
| Wipi2 |
A |
T |
5: 142,643,989 (GRCm39) |
I124F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCCAGCATCCTGACTGCATTC -3'
(R):5'- AGCGTGCAGCTAGAGCACAACC -3'
Sequencing Primer
(F):5'- CATTGCCTCTAACAAGAGCTTC -3'
(R):5'- GTCCTGCTGGGTCACAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation