Incidental Mutation 'R0546:Itgav'
| ID |
44806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgav
|
| Ensembl Gene |
ENSMUSG00000027087 |
| Gene Name |
integrin alpha V |
| Synonyms |
1110004F14Rik, D430040G12Rik, CD51, vitronectin receptor alpha polypeptide (VNRA), 2610028E01Rik, alphav-integrin |
| MMRRC Submission |
038738-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0546 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
83554796-83637261 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83633586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 978
(M978I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028499]
[ENSMUST00000111740]
|
| AlphaFold |
P43406 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028499
AA Change: M1014I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000028499
Gene: ENSMUSG00000027087
AA Change: M1014I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Int_alpha
|
45 |
104 |
1.05e-3 |
SMART |
|
Int_alpha
|
248 |
298 |
4.9e-13 |
SMART |
|
Int_alpha
|
302 |
363 |
4.55e-8 |
SMART |
|
Int_alpha
|
366 |
422 |
2.2e-15 |
SMART |
|
Int_alpha
|
430 |
484 |
1.62e-4 |
SMART |
|
SCOP:d1m1xa2
|
629 |
767 |
3e-49 |
SMART |
|
SCOP:d1m1xa3
|
768 |
982 |
1e-89 |
SMART |
|
low complexity region
|
995 |
1008 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1013 |
1027 |
3.9e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111740
AA Change: M978I
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107369
Gene: ENSMUSG00000027087
AA Change: M978I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Int_alpha
|
45 |
104 |
1.05e-3 |
SMART |
|
Int_alpha
|
212 |
262 |
4.9e-13 |
SMART |
|
Int_alpha
|
266 |
327 |
4.55e-8 |
SMART |
|
Int_alpha
|
330 |
386 |
2.2e-15 |
SMART |
|
Int_alpha
|
394 |
448 |
1.62e-4 |
SMART |
|
SCOP:d1m1xa2
|
593 |
731 |
5e-49 |
SMART |
|
SCOP:d1m1xa3
|
732 |
946 |
2e-89 |
SMART |
|
low complexity region
|
959 |
972 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
977 |
991 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125402
AA Change: M89I
|
| SMART Domains |
Protein: ENSMUSP00000118016
Gene: ENSMUSG00000027087
AA Change: M89I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1m1xa3
|
2 |
58 |
7e-19 |
SMART |
|
PDB:3IJE|A
|
2 |
69 |
3e-41 |
PDB |
|
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
89 |
103 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131192
AA Change: M28I
|
| SMART Domains |
Protein: ENSMUSP00000121295
Gene: ENSMUSG00000027087
AA Change: M28I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
28 |
42 |
4.5e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.1030 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
99% (74/75) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that is a member of the integrin superfamily. Integrins are transmembrane receptors involved cell adhesion and signaling, and they are subdivided based on the heterodimer formation of alpha and beta chains. This protein has been shown to heterodimerize with beta 1, beta 3, beta 6 and beta 8. The heterodimer of alpha v and beta 3 forms the Vitronectin receptor. This protein interacts with several extracellular matrix proteins to mediate cell adhesion and may play a role in cell migration. In mouse, deficiency of this gene is associated with defects in vascular morphogenesis in the brain and early post-natal death. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit placental defects, intracerebral and intestinal hemorrhages, and cleft palate, resulting in death occurring as early as midgestation and as late as shortly after birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,077,076 (GRCm39) |
|
probably null |
Het |
| Actn1 |
C |
T |
12: 80,225,208 (GRCm39) |
R418Q |
probably benign |
Het |
| Adam39 |
G |
A |
8: 41,279,468 (GRCm39) |
V620M |
probably damaging |
Het |
| Agr3 |
C |
A |
12: 35,978,329 (GRCm39) |
T14K |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,788 (GRCm39) |
D1002G |
probably benign |
Het |
| Amz2 |
T |
A |
11: 109,324,780 (GRCm39) |
N221K |
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,289,333 (GRCm39) |
E752G |
probably damaging |
Het |
| Ap2a1 |
C |
T |
7: 44,554,132 (GRCm39) |
G500S |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Ccdc112 |
A |
G |
18: 46,424,139 (GRCm39) |
S200P |
possibly damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,322,830 (GRCm39) |
E643D |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,904,597 (GRCm39) |
T398S |
possibly damaging |
Het |
| Cnp |
A |
G |
11: 100,471,549 (GRCm39) |
Y397C |
probably damaging |
Het |
| Cpa4 |
T |
C |
6: 30,580,962 (GRCm39) |
W184R |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,903,671 (GRCm39) |
I1856N |
probably damaging |
Het |
| Ctrl |
A |
G |
8: 106,658,966 (GRCm39) |
I200T |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,572,564 (GRCm39) |
R934* |
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,520,633 (GRCm39) |
V408A |
probably benign |
Het |
| Dhfr |
G |
A |
13: 92,504,692 (GRCm39) |
|
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,492,388 (GRCm39) |
N740Y |
probably damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,732 (GRCm39) |
T13A |
probably benign |
Het |
| Fars2 |
G |
T |
13: 36,388,569 (GRCm39) |
K19N |
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,430,257 (GRCm39) |
|
probably null |
Het |
| Gabra1 |
T |
A |
11: 42,053,428 (GRCm39) |
T69S |
probably damaging |
Het |
| Galnt18 |
T |
G |
7: 111,107,348 (GRCm39) |
N475T |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,268,836 (GRCm39) |
Y439C |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,622 (GRCm39) |
*409W |
probably null |
Het |
| Hip1r |
T |
C |
5: 124,137,114 (GRCm39) |
V658A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,229,605 (GRCm39) |
D73G |
probably benign |
Het |
| Ifitm2 |
A |
G |
7: 140,535,656 (GRCm39) |
V58A |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,414,945 (GRCm39) |
D1359G |
probably benign |
Het |
| Ing1 |
A |
G |
8: 11,607,031 (GRCm39) |
D41G |
probably damaging |
Het |
| Itgal |
C |
T |
7: 126,909,486 (GRCm39) |
T446I |
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,754,681 (GRCm39) |
Y132H |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,829,766 (GRCm39) |
N211K |
probably damaging |
Het |
| Mgat4d |
A |
G |
8: 84,082,350 (GRCm39) |
N100S |
possibly damaging |
Het |
| Mrgprb3 |
T |
C |
7: 48,293,263 (GRCm39) |
Y96C |
probably damaging |
Het |
| Myh11 |
A |
C |
16: 14,023,492 (GRCm39) |
L1562R |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,397,139 (GRCm39) |
Y2667C |
probably damaging |
Het |
| Or14j7 |
T |
A |
17: 38,235,229 (GRCm39) |
C257* |
probably null |
Het |
| Or52ae7 |
A |
G |
7: 103,119,907 (GRCm39) |
I220M |
possibly damaging |
Het |
| Or6c70 |
G |
A |
10: 129,710,407 (GRCm39) |
T73I |
possibly damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,573 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or8k38 |
C |
T |
2: 86,488,235 (GRCm39) |
C189Y |
possibly damaging |
Het |
| Or9m2 |
T |
A |
2: 87,820,816 (GRCm39) |
Y120* |
probably null |
Het |
| Paox |
G |
T |
7: 139,711,591 (GRCm39) |
G148W |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,799,112 (GRCm39) |
V2777A |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,477,388 (GRCm39) |
V360E |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,998,030 (GRCm39) |
|
probably benign |
Het |
| Sbds |
G |
T |
5: 130,282,919 (GRCm39) |
A3D |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,031,953 (GRCm39) |
T426A |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,551,929 (GRCm39) |
Y148C |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,059,631 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
G |
10: 125,066,742 (GRCm39) |
V299A |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,974,439 (GRCm39) |
Y174C |
possibly damaging |
Het |
| Snx22 |
T |
A |
9: 65,976,059 (GRCm39) |
Y58F |
probably damaging |
Het |
| Snx25 |
A |
G |
8: 46,556,667 (GRCm39) |
Y308H |
probably benign |
Het |
| St3gal2 |
A |
G |
8: 111,696,738 (GRCm39) |
|
probably null |
Het |
| Stab1 |
C |
T |
14: 30,861,507 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Steap4 |
T |
C |
5: 8,025,870 (GRCm39) |
S144P |
probably damaging |
Het |
| Stfa3 |
T |
A |
16: 36,272,619 (GRCm39) |
|
probably benign |
Het |
| Tmprss9 |
C |
A |
10: 80,735,157 (GRCm39) |
Q1095K |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,890,052 (GRCm39) |
V1217A |
possibly damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,228 (GRCm39) |
|
probably null |
Het |
| Trim7 |
A |
G |
11: 48,736,336 (GRCm39) |
E23G |
probably damaging |
Het |
| Trpv3 |
A |
T |
11: 73,188,013 (GRCm39) |
E788V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,575,863 (GRCm39) |
I25010T |
probably damaging |
Het |
| Ube2ql1 |
T |
C |
13: 69,887,419 (GRCm39) |
H14R |
unknown |
Het |
| Uggt1 |
C |
T |
1: 36,235,052 (GRCm39) |
R419H |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,850,731 (GRCm39) |
V391A |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,520,819 (GRCm39) |
D647G |
probably damaging |
Het |
| Zfp354c |
A |
T |
11: 50,706,457 (GRCm39) |
M206K |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,089,264 (GRCm39) |
N1031S |
possibly damaging |
Het |
| Zfp868 |
A |
G |
8: 70,064,882 (GRCm39) |
V151A |
probably benign |
Het |
|
| Other mutations in Itgav |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Itgav
|
APN |
2 |
83,633,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01969:Itgav
|
APN |
2 |
83,633,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02371:Itgav
|
APN |
2 |
83,600,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02563:Itgav
|
APN |
2 |
83,601,580 (GRCm39) |
missense |
probably benign |
|
|
IGL02640:Itgav
|
APN |
2 |
83,622,283 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02641:Itgav
|
APN |
2 |
83,598,689 (GRCm39) |
splice site |
probably benign |
|
|
IGL02927:Itgav
|
APN |
2 |
83,625,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03172:Itgav
|
APN |
2 |
83,596,190 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0158:Itgav
|
UTSW |
2 |
83,622,381 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0346:Itgav
|
UTSW |
2 |
83,622,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0508:Itgav
|
UTSW |
2 |
83,623,002 (GRCm39) |
splice site |
probably benign |
|
|
R0554:Itgav
|
UTSW |
2 |
83,624,614 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1122:Itgav
|
UTSW |
2 |
83,622,283 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1468:Itgav
|
UTSW |
2 |
83,596,245 (GRCm39) |
splice site |
probably benign |
|
|
R1566:Itgav
|
UTSW |
2 |
83,566,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Itgav
|
UTSW |
2 |
83,632,123 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1892:Itgav
|
UTSW |
2 |
83,601,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Itgav
|
UTSW |
2 |
83,625,830 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2176:Itgav
|
UTSW |
2 |
83,633,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2438:Itgav
|
UTSW |
2 |
83,606,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2449:Itgav
|
UTSW |
2 |
83,599,094 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3110:Itgav
|
UTSW |
2 |
83,622,915 (GRCm39) |
nonsense |
probably null |
|
|
R3112:Itgav
|
UTSW |
2 |
83,622,915 (GRCm39) |
nonsense |
probably null |
|
|
R3176:Itgav
|
UTSW |
2 |
83,606,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Itgav
|
UTSW |
2 |
83,606,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3276:Itgav
|
UTSW |
2 |
83,606,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Itgav
|
UTSW |
2 |
83,606,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3766:Itgav
|
UTSW |
2 |
83,632,229 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3774:Itgav
|
UTSW |
2 |
83,622,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3880:Itgav
|
UTSW |
2 |
83,598,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4196:Itgav
|
UTSW |
2 |
83,598,671 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4287:Itgav
|
UTSW |
2 |
83,555,184 (GRCm39) |
nonsense |
probably null |
|
|
R4620:Itgav
|
UTSW |
2 |
83,586,246 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4790:Itgav
|
UTSW |
2 |
83,586,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Itgav
|
UTSW |
2 |
83,619,327 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6150:Itgav
|
UTSW |
2 |
83,606,780 (GRCm39) |
missense |
probably benign |
|
|
R6345:Itgav
|
UTSW |
2 |
83,632,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6482:Itgav
|
UTSW |
2 |
83,624,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6900:Itgav
|
UTSW |
2 |
83,633,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Itgav
|
UTSW |
2 |
83,555,179 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7317:Itgav
|
UTSW |
2 |
83,625,327 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7429:Itgav
|
UTSW |
2 |
83,624,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Itgav
|
UTSW |
2 |
83,624,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Itgav
|
UTSW |
2 |
83,632,373 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7546:Itgav
|
UTSW |
2 |
83,606,894 (GRCm39) |
nonsense |
probably null |
|
|
R7578:Itgav
|
UTSW |
2 |
83,578,219 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8311:Itgav
|
UTSW |
2 |
83,596,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8497:Itgav
|
UTSW |
2 |
83,615,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Itgav
|
UTSW |
2 |
83,600,427 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9752:Itgav
|
UTSW |
2 |
83,600,451 (GRCm39) |
critical splice donor site |
probably null |
|
|
V1662:Itgav
|
UTSW |
2 |
83,614,198 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCATCTTGGCAGTTCTCGCAG -3'
(R):5'- ACGAGAGATGTTGAAATCCACCACC -3'
Sequencing Primer
(F):5'- AGGGCTGCTGCTACTGG -3'
(R):5'- ACCACGGTGGTGAACTTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation