Incidental Mutation 'IGL02339:Gp5'
| ID |
289009 |
| 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 # |
IGL02339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
30126503-30129597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30128008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 222
(E222G)
|
| 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 damaging
Transcript: ENSMUST00000061190
AA Change: E222G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000051895
Gene: ENSMUSG00000047953
AA Change: E222G
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
C |
A |
6: 23,093,965 (GRCm39) |
V119F |
probably damaging |
Het |
| Abcg5 |
T |
C |
17: 84,981,032 (GRCm39) |
I186V |
possibly damaging |
Het |
| B4gat1 |
G |
A |
19: 5,089,446 (GRCm39) |
E148K |
probably benign |
Het |
| Ccr6 |
A |
T |
17: 8,475,085 (GRCm39) |
T97S |
probably benign |
Het |
| Cd209f |
A |
C |
8: 4,154,483 (GRCm39) |
|
probably null |
Het |
| Chst1 |
T |
A |
2: 92,443,922 (GRCm39) |
D131E |
possibly damaging |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Dnaaf9 |
A |
G |
2: 130,581,385 (GRCm39) |
S546P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,078,881 (GRCm39) |
Y2361H |
probably benign |
Het |
| Dpp6 |
C |
T |
5: 27,857,228 (GRCm39) |
T333I |
probably damaging |
Het |
| Glt8d1 |
C |
A |
14: 30,730,767 (GRCm39) |
T91K |
probably damaging |
Het |
| Gm4952 |
G |
A |
19: 12,604,275 (GRCm39) |
R229Q |
probably damaging |
Het |
| Gm5117 |
T |
C |
8: 32,228,254 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
T |
A |
7: 55,771,470 (GRCm39) |
D1077E |
probably benign |
Het |
| Hfe |
T |
C |
13: 23,888,373 (GRCm39) |
E171G |
probably damaging |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,678 (GRCm39) |
V209A |
probably damaging |
Het |
| Ktn1 |
A |
T |
14: 47,920,835 (GRCm39) |
|
probably benign |
Het |
| Med13 |
T |
C |
11: 86,179,765 (GRCm39) |
I1394M |
probably benign |
Het |
| Meioc |
T |
G |
11: 102,559,274 (GRCm39) |
S65R |
probably benign |
Het |
| Myof |
T |
C |
19: 37,960,661 (GRCm39) |
Y460C |
possibly damaging |
Het |
| Or4f53 |
A |
T |
2: 111,087,588 (GRCm39) |
T43S |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,314,324 (GRCm39) |
Y74H |
possibly damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,685,724 (GRCm39) |
Q61P |
probably damaging |
Het |
| Rab29 |
A |
G |
1: 131,799,880 (GRCm39) |
T152A |
probably benign |
Het |
| Rest |
A |
G |
5: 77,423,135 (GRCm39) |
H313R |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,085,091 (GRCm39) |
Y531H |
probably damaging |
Het |
| St3gal3 |
T |
C |
4: 117,815,759 (GRCm39) |
T148A |
probably damaging |
Het |
| Stxbp5 |
C |
T |
10: 9,692,041 (GRCm39) |
V368I |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 120,331,019 (GRCm39) |
D33G |
probably damaging |
Het |
| Trim38 |
G |
A |
13: 23,972,213 (GRCm39) |
R178Q |
probably damaging |
Het |
| Uvssa |
A |
T |
5: 33,572,193 (GRCm39) |
K704N |
probably damaging |
Het |
| Vmn1r69 |
G |
A |
7: 10,314,645 (GRCm39) |
Q29* |
probably null |
Het |
| Ypel2 |
T |
C |
11: 86,831,429 (GRCm39) |
D119G |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation