Incidental Mutation 'R2429:Itgb3'
| ID |
250353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb3
|
| Ensembl Gene |
ENSMUSG00000020689 |
| Gene Name |
integrin beta 3 |
| Synonyms |
platelet glycoprotein IIIa (GP3A), CD61 |
| MMRRC Submission |
040391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R2429 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
104498826-104561302 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104527914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 216
(K216N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021028]
|
| AlphaFold |
O54890 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021028
AA Change: K216N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: K216N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
PSI
|
29 |
75 |
4.43e-5 |
SMART |
|
INB
|
37 |
460 |
3.16e-276 |
SMART |
|
VWA
|
136 |
395 |
8.65e-2 |
SMART |
|
Pfam:EGF_2
|
511 |
546 |
6.8e-7 |
PFAM |
|
Pfam:EGF_2
|
553 |
583 |
8.1e-7 |
PFAM |
|
Integrin_B_tail
|
633 |
717 |
1.07e-28 |
SMART |
|
Integrin_b_cyt
|
741 |
787 |
1.78e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127140
|
| Meta Mutation Damage Score |
0.8388 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit platelet defects, extended bleeding times, cutaneous and gastrointestinal bleeding, anemia, increased bone mass, hypocalcemia, reduced survival, and placental defects associated with some fetal loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
A |
T |
2: 170,421,745 (GRCm39) |
M45K |
unknown |
Het |
| Abcd3 |
A |
G |
3: 121,586,512 (GRCm39) |
F63L |
probably damaging |
Het |
| Acsm3 |
A |
T |
7: 119,367,223 (GRCm39) |
M19L |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,597,496 (GRCm39) |
K41E |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,362,728 (GRCm39) |
I677L |
probably benign |
Het |
| Auh |
C |
T |
13: 53,073,052 (GRCm39) |
G110R |
probably damaging |
Het |
| Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
| Cntn6 |
T |
C |
6: 104,627,526 (GRCm39) |
Y120H |
possibly damaging |
Het |
| Gnpat |
T |
C |
8: 125,603,758 (GRCm39) |
F212S |
probably damaging |
Het |
| Gpd1 |
A |
G |
15: 99,618,488 (GRCm39) |
M181V |
probably benign |
Het |
| Kif21a |
G |
A |
15: 90,882,208 (GRCm39) |
T32M |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,377 (GRCm39) |
V3477A |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,373,894 (GRCm39) |
L119* |
probably null |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,194,723 (GRCm39) |
N1645D |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,210,583 (GRCm39) |
|
probably null |
Het |
| Npffr2 |
A |
T |
5: 89,731,006 (GRCm39) |
Y312F |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,345,312 (GRCm39) |
C348F |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,362 (GRCm39) |
N590S |
probably damaging |
Het |
| Prpsap1 |
G |
A |
11: 116,363,061 (GRCm39) |
T314M |
probably damaging |
Het |
| Prss35 |
T |
C |
9: 86,637,398 (GRCm39) |
V56A |
probably benign |
Het |
| Setx |
T |
C |
2: 29,069,910 (GRCm39) |
S2572P |
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,055,960 (GRCm39) |
D93G |
possibly damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,506,399 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
G |
2: 14,409,897 (GRCm39) |
S298A |
probably benign |
Het |
| Sorl1 |
G |
T |
9: 41,948,366 (GRCm39) |
D806E |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,526,781 (GRCm39) |
K43E |
possibly damaging |
Het |
| Trmt1l |
T |
A |
1: 151,309,581 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp334 |
G |
A |
2: 165,222,432 (GRCm39) |
T537I |
probably damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,482 (GRCm39) |
L168* |
probably null |
Het |
|
| Other mutations in Itgb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Itgb3
|
APN |
11 |
104,524,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01460:Itgb3
|
APN |
11 |
104,553,220 (GRCm39) |
nonsense |
probably null |
|
|
IGL01615:Itgb3
|
APN |
11 |
104,534,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01669:Itgb3
|
APN |
11 |
104,524,216 (GRCm39) |
splice site |
probably benign |
|
|
IGL02057:Itgb3
|
APN |
11 |
104,523,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Itgb3
|
APN |
11 |
104,534,765 (GRCm39) |
missense |
probably benign |
|
|
IGL02604:Itgb3
|
APN |
11 |
104,553,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02708:Itgb3
|
APN |
11 |
104,528,655 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02901:Itgb3
|
APN |
11 |
104,528,772 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03288:Itgb3
|
APN |
11 |
104,524,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Itgb3
|
UTSW |
11 |
104,557,966 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0042:Itgb3
|
UTSW |
11 |
104,557,966 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0123:Itgb3
|
UTSW |
11 |
104,527,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Itgb3
|
UTSW |
11 |
104,534,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Itgb3
|
UTSW |
11 |
104,549,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2017:Itgb3
|
UTSW |
11 |
104,528,788 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2045:Itgb3
|
UTSW |
11 |
104,514,239 (GRCm39) |
missense |
probably benign |
|
|
R2200:Itgb3
|
UTSW |
11 |
104,531,812 (GRCm39) |
splice site |
probably null |
|
|
R2225:Itgb3
|
UTSW |
11 |
104,556,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3820:Itgb3
|
UTSW |
11 |
104,524,438 (GRCm39) |
nonsense |
probably null |
|
|
R4863:Itgb3
|
UTSW |
11 |
104,556,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Itgb3
|
UTSW |
11 |
104,531,903 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5301:Itgb3
|
UTSW |
11 |
104,524,480 (GRCm39) |
splice site |
probably null |
|
|
R5933:Itgb3
|
UTSW |
11 |
104,528,805 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6361:Itgb3
|
UTSW |
11 |
104,556,408 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6436:Itgb3
|
UTSW |
11 |
104,524,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6452:Itgb3
|
UTSW |
11 |
104,524,290 (GRCm39) |
nonsense |
probably null |
|
|
R7196:Itgb3
|
UTSW |
11 |
104,524,438 (GRCm39) |
nonsense |
probably null |
|
|
R7438:Itgb3
|
UTSW |
11 |
104,534,403 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8006:Itgb3
|
UTSW |
11 |
104,556,322 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8068:Itgb3
|
UTSW |
11 |
104,556,337 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8378:Itgb3
|
UTSW |
11 |
104,533,142 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9052:Itgb3
|
UTSW |
11 |
104,524,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Itgb3
|
UTSW |
11 |
104,556,451 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Itgb3
|
UTSW |
11 |
104,534,449 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACACAGGTACACACAGAGAT -3'
(R):5'- CAAAGTCCCGTGTGGTTCCC -3'
Sequencing Primer
(F):5'- GACACACATTCAGAGACACAGAG -3'
(R):5'- GGAAACCCCCAAGTGAACTGTTTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation