Incidental Mutation 'R2518:Itga2'
| ID |
254114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga2
|
| Ensembl Gene |
ENSMUSG00000015533 |
| Gene Name |
integrin alpha 2 |
| Synonyms |
DX5, VLA-2 receptor, alpha 2 subunit, CD49B |
| MMRRC Submission |
040422-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2518 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
114969617-115068636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115017578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 111
(C111S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056117]
[ENSMUST00000224204]
|
| AlphaFold |
Q62469 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056117
AA Change: C128S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053891
Gene: ENSMUSG00000015533
AA Change: C128S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Int_alpha
|
41 |
96 |
4.91e-4 |
SMART |
|
VWA
|
169 |
359 |
2.42e-39 |
SMART |
|
Blast:VWA
|
364 |
424 |
4e-26 |
BLAST |
|
Int_alpha
|
430 |
481 |
2.59e-3 |
SMART |
|
Int_alpha
|
484 |
541 |
3.5e-9 |
SMART |
|
Int_alpha
|
547 |
602 |
3.11e-15 |
SMART |
|
Int_alpha
|
611 |
669 |
2.52e-1 |
SMART |
|
low complexity region
|
890 |
910 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1129 |
1151 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1152 |
1166 |
9e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224204
AA Change: C111S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygotes for targeted null mutations were viable, fertile, showed no overt anatomical defects, and exhibited no bleeding anomalies. Platelet, primary fibroblast and keratinocytes from homozygous mutant mice show less efficient adhesion to collagens in vitro. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted(6)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
G |
8: 25,127,157 (GRCm39) |
C480R |
probably damaging |
Het |
| Aftph |
G |
T |
11: 20,675,797 (GRCm39) |
T604K |
probably damaging |
Het |
| Bivm |
T |
C |
1: 44,168,775 (GRCm39) |
V279A |
probably damaging |
Het |
| C2cd2 |
G |
A |
16: 97,723,286 (GRCm39) |
T77I |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,510,526 (GRCm39) |
H527R |
probably benign |
Het |
| Cd226 |
A |
G |
18: 89,225,451 (GRCm39) |
N116S |
probably benign |
Het |
| Cit |
A |
G |
5: 116,125,105 (GRCm39) |
K1612E |
probably damaging |
Het |
| Cmtr1 |
T |
A |
17: 29,900,954 (GRCm39) |
Y663* |
probably null |
Het |
| Col3a1 |
T |
A |
1: 45,376,672 (GRCm39) |
|
probably benign |
Het |
| Copa |
A |
G |
1: 171,947,468 (GRCm39) |
N1095D |
probably benign |
Het |
| Cpne1 |
G |
T |
2: 155,915,891 (GRCm39) |
A433E |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,578,032 (GRCm39) |
L1181F |
probably damaging |
Het |
| Dnajc6 |
T |
A |
4: 101,470,127 (GRCm39) |
I220N |
probably damaging |
Het |
| Duxbl1 |
G |
C |
14: 25,988,172 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
C |
T |
15: 71,335,760 (GRCm39) |
R478H |
probably benign |
Het |
| Fam91a1 |
T |
A |
15: 58,322,449 (GRCm39) |
S734T |
possibly damaging |
Het |
| Fut10 |
T |
G |
8: 31,726,495 (GRCm39) |
S417A |
probably benign |
Het |
| Gm9945 |
C |
T |
11: 53,371,163 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,680 (GRCm39) |
E934G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Hdac5 |
A |
G |
11: 102,087,962 (GRCm39) |
V949A |
probably damaging |
Het |
| Hdgfl1 |
G |
T |
13: 26,953,732 (GRCm39) |
L114I |
probably benign |
Het |
| Ifi27l2b |
T |
A |
12: 103,422,083 (GRCm39) |
M94L |
unknown |
Het |
| Irs2 |
C |
A |
8: 11,055,352 (GRCm39) |
A1027S |
probably benign |
Het |
| Khdrbs1 |
T |
C |
4: 129,614,540 (GRCm39) |
T338A |
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,870,161 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
T |
C |
7: 30,275,493 (GRCm39) |
N1822S |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,830,310 (GRCm39) |
I136T |
probably benign |
Het |
| Lyar |
T |
A |
5: 38,385,276 (GRCm39) |
D105E |
probably benign |
Het |
| Mat1a |
T |
A |
14: 40,844,469 (GRCm39) |
D366E |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Neb |
T |
A |
2: 52,139,523 (GRCm39) |
K95* |
probably null |
Het |
| Nectin4 |
A |
G |
1: 171,207,776 (GRCm39) |
D56G |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,470,109 (GRCm39) |
F334Y |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,395 (GRCm39) |
F153I |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,673 (GRCm39) |
N172S |
probably damaging |
Het |
| Pde8a |
C |
A |
7: 80,967,170 (GRCm39) |
T437K |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,377 (GRCm39) |
N512K |
possibly damaging |
Het |
| Pramel12 |
A |
G |
4: 143,144,473 (GRCm39) |
Q273R |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,068 (GRCm39) |
D330G |
probably damaging |
Het |
| Ren1 |
G |
A |
1: 133,287,862 (GRCm39) |
A399T |
probably damaging |
Het |
| Rnft2 |
G |
T |
5: 118,332,670 (GRCm39) |
|
probably benign |
Het |
| Septin14 |
A |
T |
5: 129,776,099 (GRCm39) |
S27T |
probably benign |
Het |
| Shld1 |
T |
A |
2: 132,592,447 (GRCm39) |
S165T |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,885,692 (GRCm39) |
K128E |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,882,678 (GRCm39) |
W241R |
probably benign |
Het |
| Slc24a4 |
T |
A |
12: 102,188,310 (GRCm39) |
H134Q |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,961,124 (GRCm39) |
L165Q |
possibly damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,949,630 (GRCm39) |
I240V |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,029,810 (GRCm39) |
F74L |
probably damaging |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tarbp2 |
A |
G |
15: 102,426,992 (GRCm39) |
E3G |
possibly damaging |
Het |
| Tas2r130 |
A |
T |
6: 131,607,036 (GRCm39) |
I253K |
probably damaging |
Het |
| Timm44 |
A |
C |
8: 4,316,588 (GRCm39) |
C319G |
probably null |
Het |
| Tjap1 |
A |
T |
17: 46,571,021 (GRCm39) |
N165K |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,977,080 (GRCm39) |
I429T |
probably benign |
Het |
| Trabd2b |
A |
T |
4: 114,457,100 (GRCm39) |
D339V |
probably damaging |
Het |
| Tst |
T |
C |
15: 78,290,033 (GRCm39) |
M1V |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,859,435 (GRCm39) |
N335K |
probably benign |
Het |
| Vps54 |
C |
T |
11: 21,256,394 (GRCm39) |
T633M |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp953 |
A |
G |
13: 67,496,003 (GRCm39) |
Y13H |
probably damaging |
Het |
|
| Other mutations in Itga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Itga2
|
APN |
13 |
115,014,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01481:Itga2
|
APN |
13 |
114,996,168 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01666:Itga2
|
APN |
13 |
114,973,627 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01730:Itga2
|
APN |
13 |
114,990,947 (GRCm39) |
splice site |
probably benign |
|
|
IGL01965:Itga2
|
APN |
13 |
114,984,600 (GRCm39) |
splice site |
probably benign |
|
|
IGL01987:Itga2
|
APN |
13 |
114,984,482 (GRCm39) |
nonsense |
probably null |
|
|
IGL02334:Itga2
|
APN |
13 |
115,001,845 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02381:Itga2
|
APN |
13 |
114,993,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02562:Itga2
|
APN |
13 |
114,973,106 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03191:Itga2
|
APN |
13 |
114,973,020 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03209:Itga2
|
APN |
13 |
115,017,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0007:Itga2
|
UTSW |
13 |
115,002,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Itga2
|
UTSW |
13 |
115,007,032 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0023:Itga2
|
UTSW |
13 |
115,007,032 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0025:Itga2
|
UTSW |
13 |
115,007,032 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0029:Itga2
|
UTSW |
13 |
115,007,032 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0062:Itga2
|
UTSW |
13 |
115,007,032 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0062:Itga2
|
UTSW |
13 |
115,007,032 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0149:Itga2
|
UTSW |
13 |
114,973,115 (GRCm39) |
unclassified |
probably benign |
|
|
R0152:Itga2
|
UTSW |
13 |
115,002,850 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0496:Itga2
|
UTSW |
13 |
114,990,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0502:Itga2
|
UTSW |
13 |
114,982,392 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0599:Itga2
|
UTSW |
13 |
114,993,186 (GRCm39) |
splice site |
probably benign |
|
|
R0688:Itga2
|
UTSW |
13 |
114,976,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0704:Itga2
|
UTSW |
13 |
114,998,911 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0760:Itga2
|
UTSW |
13 |
114,996,168 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0811:Itga2
|
UTSW |
13 |
115,007,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0812:Itga2
|
UTSW |
13 |
115,007,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0836:Itga2
|
UTSW |
13 |
114,993,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1196:Itga2
|
UTSW |
13 |
115,002,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1546:Itga2
|
UTSW |
13 |
114,985,956 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1639:Itga2
|
UTSW |
13 |
114,993,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1834:Itga2
|
UTSW |
13 |
114,993,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Itga2
|
UTSW |
13 |
114,993,262 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2180:Itga2
|
UTSW |
13 |
114,985,917 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2190:Itga2
|
UTSW |
13 |
115,007,141 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3885:Itga2
|
UTSW |
13 |
115,005,835 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3962:Itga2
|
UTSW |
13 |
114,976,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4094:Itga2
|
UTSW |
13 |
115,007,161 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4193:Itga2
|
UTSW |
13 |
115,023,185 (GRCm39) |
nonsense |
probably null |
|
|
R4290:Itga2
|
UTSW |
13 |
115,002,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4459:Itga2
|
UTSW |
13 |
114,980,019 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4460:Itga2
|
UTSW |
13 |
114,980,019 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4628:Itga2
|
UTSW |
13 |
115,014,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4655:Itga2
|
UTSW |
13 |
115,009,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4716:Itga2
|
UTSW |
13 |
114,993,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4896:Itga2
|
UTSW |
13 |
114,990,302 (GRCm39) |
nonsense |
probably null |
|
|
R5093:Itga2
|
UTSW |
13 |
114,992,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5488:Itga2
|
UTSW |
13 |
114,979,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:Itga2
|
UTSW |
13 |
114,979,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Itga2
|
UTSW |
13 |
115,021,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5767:Itga2
|
UTSW |
13 |
114,976,106 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5790:Itga2
|
UTSW |
13 |
115,004,742 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5923:Itga2
|
UTSW |
13 |
115,021,055 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6163:Itga2
|
UTSW |
13 |
115,002,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6227:Itga2
|
UTSW |
13 |
114,976,097 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6278:Itga2
|
UTSW |
13 |
114,982,424 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6283:Itga2
|
UTSW |
13 |
115,005,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Itga2
|
UTSW |
13 |
114,980,009 (GRCm39) |
missense |
probably benign |
|
|
R6510:Itga2
|
UTSW |
13 |
115,009,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6742:Itga2
|
UTSW |
13 |
114,973,061 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6869:Itga2
|
UTSW |
13 |
115,012,073 (GRCm39) |
splice site |
probably null |
|
|
R7073:Itga2
|
UTSW |
13 |
114,996,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7111:Itga2
|
UTSW |
13 |
115,037,066 (GRCm39) |
missense |
unknown |
|
|
R7236:Itga2
|
UTSW |
13 |
115,014,227 (GRCm39) |
missense |
probably benign |
|
|
R7269:Itga2
|
UTSW |
13 |
115,023,225 (GRCm39) |
nonsense |
probably null |
|
|
R7296:Itga2
|
UTSW |
13 |
114,993,930 (GRCm39) |
splice site |
probably null |
|
|
R7350:Itga2
|
UTSW |
13 |
114,973,738 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7375:Itga2
|
UTSW |
13 |
115,005,753 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7501:Itga2
|
UTSW |
13 |
115,012,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7687:Itga2
|
UTSW |
13 |
115,002,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7766:Itga2
|
UTSW |
13 |
114,990,427 (GRCm39) |
missense |
probably benign |
|
|
R7810:Itga2
|
UTSW |
13 |
115,002,715 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8038:Itga2
|
UTSW |
13 |
114,990,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8948:Itga2
|
UTSW |
13 |
115,009,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9132:Itga2
|
UTSW |
13 |
115,014,298 (GRCm39) |
nonsense |
probably null |
|
|
R9153:Itga2
|
UTSW |
13 |
115,001,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9159:Itga2
|
UTSW |
13 |
115,014,298 (GRCm39) |
nonsense |
probably null |
|
|
R9651:Itga2
|
UTSW |
13 |
115,020,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9652:Itga2
|
UTSW |
13 |
115,020,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9653:Itga2
|
UTSW |
13 |
115,020,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Itga2
|
UTSW |
13 |
114,993,868 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1177:Itga2
|
UTSW |
13 |
114,990,237 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTTGACTGGAACTCCTC -3'
(R):5'- TTGTCTTCAGGCCTCCAAGG -3'
Sequencing Primer
(F):5'- GTAATCCCTCCCCTTTGACTGTAG -3'
(R):5'- GCACTGGGCACAAAAGTAATAGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation