Incidental Mutation 'R1181:Gp1ba'
| ID |
101599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gp1ba
|
| Ensembl Gene |
ENSMUSG00000050675 |
| Gene Name |
glycoprotein 1b, alpha polypeptide |
| Synonyms |
GPIba, GP Ib-alpha, GPIb-alpha |
| MMRRC Submission |
039253-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R1181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70529948-70532862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70532253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 673
(P673L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000055184]
[ENSMUST00000108551]
[ENSMUST00000136383]
[ENSMUST00000139638]
|
| AlphaFold |
O35930 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014750
|
| SMART Domains |
Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
18 |
112 |
1.3e-22 |
PFAM |
|
Pfam:Mito_carr
|
115 |
213 |
2.6e-19 |
PFAM |
|
Pfam:Mito_carr
|
216 |
311 |
5.2e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055184
AA Change: P673L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000057563
Gene: ENSMUSG00000050675
AA Change: P673L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
LRRNT
|
19 |
51 |
1.66e-1 |
SMART |
|
LRR
|
70 |
91 |
2.54e2 |
SMART |
|
LRR
|
92 |
114 |
9.96e-1 |
SMART |
|
LRR_TYP
|
115 |
138 |
1.56e-2 |
SMART |
|
LRR_TYP
|
139 |
162 |
1.47e-3 |
SMART |
|
LRR
|
163 |
186 |
1.89e-1 |
SMART |
|
LRR
|
187 |
210 |
8.09e-1 |
SMART |
|
LRRCT
|
221 |
281 |
2.53e-12 |
SMART |
|
low complexity region
|
403 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
579 |
N/A |
INTRINSIC |
|
transmembrane domain
|
612 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
PDB:2BP3|T
|
680 |
701 |
2e-6 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108551
AA Change: P673L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104191
Gene: ENSMUSG00000050675
AA Change: P673L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
LRRNT
|
19 |
51 |
1.66e-1 |
SMART |
|
LRR
|
70 |
91 |
2.54e2 |
SMART |
|
LRR
|
92 |
114 |
9.96e-1 |
SMART |
|
LRR_TYP
|
115 |
138 |
1.56e-2 |
SMART |
|
LRR_TYP
|
139 |
162 |
1.47e-3 |
SMART |
|
LRR
|
163 |
186 |
1.89e-1 |
SMART |
|
LRR
|
187 |
210 |
8.09e-1 |
SMART |
|
LRRCT
|
221 |
281 |
2.53e-12 |
SMART |
|
low complexity region
|
403 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
579 |
N/A |
INTRINSIC |
|
transmembrane domain
|
612 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
PDB:2BP3|T
|
680 |
701 |
2e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134804
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136383
|
| SMART Domains |
Protein: ENSMUSP00000120900
Gene: ENSMUSG00000014606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
75 |
9.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139638
|
| SMART Domains |
Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
80 |
7.4e-17 |
PFAM |
|
Pfam:Mito_carr
|
83 |
181 |
1.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
| Meta Mutation Damage Score |
0.2301 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.9%
- 10x: 93.9%
- 20x: 84.2%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit prolonged bleeding times and reduced numbers of enlarged platelets. Heterozygotes have intermediate numbers of platelets. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
A |
19: 4,922,638 (GRCm39) |
Q64L |
probably benign |
Het |
| Ankrd12 |
T |
C |
17: 66,349,569 (GRCm39) |
N88S |
probably benign |
Het |
| Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
| Bnipl |
C |
A |
3: 95,152,960 (GRCm39) |
|
probably null |
Het |
| Bod1 |
T |
C |
11: 31,616,943 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
G |
T |
10: 79,971,328 (GRCm39) |
H166N |
probably damaging |
Het |
| Cdr2l |
T |
A |
11: 115,285,005 (GRCm39) |
I447N |
probably damaging |
Het |
| Cped1 |
T |
G |
6: 22,215,561 (GRCm39) |
I698M |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,642,662 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,012,831 (GRCm39) |
V902I |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
| Fastk |
C |
T |
5: 24,646,729 (GRCm39) |
|
probably null |
Het |
| Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
| Hgf |
G |
C |
5: 16,823,923 (GRCm39) |
G707R |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,320,228 (GRCm39) |
M594T |
probably damaging |
Het |
| Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
| Mettl14 |
C |
T |
3: 123,167,651 (GRCm39) |
G236S |
probably damaging |
Het |
| Nob1 |
G |
A |
8: 108,148,122 (GRCm39) |
P107S |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
T |
A |
6: 42,932,492 (GRCm39) |
L20Q |
probably benign |
Het |
| Or52e7 |
T |
A |
7: 104,685,021 (GRCm39) |
N205K |
probably damaging |
Het |
| Or52n4b |
C |
A |
7: 108,144,509 (GRCm39) |
T257N |
probably benign |
Het |
| Or5b109 |
C |
A |
19: 13,212,195 (GRCm39) |
H194N |
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Or6c65 |
A |
G |
10: 129,604,033 (GRCm39) |
I223V |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,183,366 (GRCm39) |
|
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,784,545 (GRCm39) |
|
probably null |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plekha2 |
A |
C |
8: 25,549,218 (GRCm39) |
S189A |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
| Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
| Serinc3 |
T |
C |
2: 163,467,446 (GRCm39) |
K445R |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,907,571 (GRCm39) |
E324G |
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
| Tas2r121 |
A |
T |
6: 132,677,132 (GRCm39) |
I280N |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,306,615 (GRCm39) |
I242M |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
| Trim66 |
C |
T |
7: 109,083,784 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Tulp3 |
A |
T |
6: 128,302,915 (GRCm39) |
H301Q |
possibly damaging |
Het |
| Ubqln5 |
T |
A |
7: 103,777,948 (GRCm39) |
Q292L |
probably damaging |
Het |
| Zfp454 |
T |
C |
11: 50,764,413 (GRCm39) |
K229E |
probably damaging |
Het |
|
| Other mutations in Gp1ba |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Gp1ba
|
APN |
11 |
70,531,478 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00715:Gp1ba
|
APN |
11 |
70,530,744 (GRCm39) |
unclassified |
probably benign |
|
|
R0126:Gp1ba
|
UTSW |
11 |
70,531,859 (GRCm39) |
unclassified |
probably benign |
|
|
R0329:Gp1ba
|
UTSW |
11 |
70,531,235 (GRCm39) |
unclassified |
probably benign |
|
|
R0360:Gp1ba
|
UTSW |
11 |
70,531,284 (GRCm39) |
unclassified |
probably benign |
|
|
R0364:Gp1ba
|
UTSW |
11 |
70,531,284 (GRCm39) |
unclassified |
probably benign |
|
|
R0561:Gp1ba
|
UTSW |
11 |
70,530,416 (GRCm39) |
unclassified |
probably benign |
|
|
R0693:Gp1ba
|
UTSW |
11 |
70,531,284 (GRCm39) |
unclassified |
probably benign |
|
|
R0715:Gp1ba
|
UTSW |
11 |
70,531,614 (GRCm39) |
unclassified |
probably benign |
|
|
R0762:Gp1ba
|
UTSW |
11 |
70,532,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0766:Gp1ba
|
UTSW |
11 |
70,532,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1178:Gp1ba
|
UTSW |
11 |
70,532,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Gp1ba
|
UTSW |
11 |
70,532,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Gp1ba
|
UTSW |
11 |
70,531,715 (GRCm39) |
unclassified |
probably benign |
|
|
R2317:Gp1ba
|
UTSW |
11 |
70,531,473 (GRCm39) |
unclassified |
probably benign |
|
|
R5101:Gp1ba
|
UTSW |
11 |
70,532,225 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6243:Gp1ba
|
UTSW |
11 |
70,530,963 (GRCm39) |
unclassified |
probably benign |
|
|
R7020:Gp1ba
|
UTSW |
11 |
70,531,139 (GRCm39) |
unclassified |
probably benign |
|
|
R7340:Gp1ba
|
UTSW |
11 |
70,531,119 (GRCm39) |
missense |
unknown |
|
|
R7571:Gp1ba
|
UTSW |
11 |
70,530,920 (GRCm39) |
missense |
unknown |
|
|
R8224:Gp1ba
|
UTSW |
11 |
70,530,683 (GRCm39) |
missense |
unknown |
|
|
R8958:Gp1ba
|
UTSW |
11 |
70,531,730 (GRCm39) |
unclassified |
probably benign |
|
|
R9164:Gp1ba
|
UTSW |
11 |
70,531,283 (GRCm39) |
missense |
unknown |
|
|
R9393:Gp1ba
|
UTSW |
11 |
70,531,293 (GRCm39) |
missense |
unknown |
|
|
X0025:Gp1ba
|
UTSW |
11 |
70,531,728 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Gp1ba
|
UTSW |
11 |
70,530,233 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGAACAGCTTTCTCAATCTCCC -3'
(R):5'- AATGCCCACTGTGCCCAATAGG -3'
Sequencing Primer
(F):5'- TCTCCCAGAGGTAGCTCTAGTAAG -3'
(R):5'- TGTGCCCAATAGGTCCTGAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation