Incidental Mutation 'R3943:Vwa2'
| ID |
307570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa2
|
| Ensembl Gene |
ENSMUSG00000025082 |
| Gene Name |
von Willebrand factor A domain containing 2 |
| Synonyms |
Amaco |
| MMRRC Submission |
040924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56862848-56900510 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 56897747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 684
(L684R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026068]
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
|
| AlphaFold |
Q70UZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026068
AA Change: L684R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
AA Change: L684R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWA
|
49 |
222 |
6.9e-35 |
SMART |
|
EGF
|
297 |
332 |
2.99e-4 |
SMART |
|
VWA
|
340 |
517 |
1.26e-28 |
SMART |
|
VWA
|
528 |
705 |
1.55e-37 |
SMART |
|
EGF
|
714 |
747 |
5e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111584
|
| SMART Domains |
Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
30 |
153 |
3e-60 |
BLAST |
|
low complexity region
|
160 |
170 |
N/A |
INTRINSIC |
|
PH
|
194 |
291 |
9.27e-9 |
SMART |
|
PH
|
372 |
467 |
3.11e-10 |
SMART |
|
low complexity region
|
531 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
626 |
N/A |
INTRINSIC |
|
coiled coil region
|
675 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
804 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118800
|
| SMART Domains |
Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
12 |
135 |
3e-60 |
BLAST |
|
low complexity region
|
142 |
152 |
N/A |
INTRINSIC |
|
PH
|
176 |
273 |
9.27e-9 |
SMART |
|
PH
|
354 |
449 |
3.11e-10 |
SMART |
|
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
608 |
N/A |
INTRINSIC |
|
coiled coil region
|
657 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
786 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122359
|
| SMART Domains |
Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
79 |
3e-32 |
BLAST |
|
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
|
PH
|
120 |
217 |
9.27e-9 |
SMART |
|
PH
|
298 |
393 |
3.11e-10 |
SMART |
|
low complexity region
|
457 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
|
coiled coil region
|
601 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
730 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7542 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
A |
G |
2: 168,026,980 (GRCm39) |
I105T |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,903,713 (GRCm39) |
I171T |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,946,343 (GRCm39) |
I773V |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
| Cad |
T |
A |
5: 31,229,729 (GRCm39) |
|
probably null |
Het |
| Camkv |
T |
A |
9: 107,825,182 (GRCm39) |
D366E |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,913,039 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,880,668 (GRCm39) |
S932P |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,505,060 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
A |
G |
13: 62,989,607 (GRCm39) |
F233S |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,269,756 (GRCm39) |
V820L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gpr158 |
C |
A |
2: 21,373,370 (GRCm39) |
R102S |
possibly damaging |
Het |
| Gramd1b |
A |
T |
9: 40,442,340 (GRCm39) |
M1K |
probably null |
Het |
| H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
| Hltf |
A |
T |
3: 20,146,908 (GRCm39) |
I494F |
probably damaging |
Het |
| Il16 |
G |
A |
7: 83,301,223 (GRCm39) |
L300F |
probably damaging |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Kcnq1 |
T |
C |
7: 142,979,825 (GRCm39) |
L657P |
probably damaging |
Het |
| Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,140,127 (GRCm39) |
F196S |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,523,365 (GRCm39) |
N204K |
probably damaging |
Het |
| Or7g27 |
T |
A |
9: 19,250,371 (GRCm39) |
M205K |
probably benign |
Het |
| Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,655 (GRCm39) |
L380P |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
| Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
| Sspn |
T |
A |
6: 145,880,083 (GRCm39) |
W62R |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,710 (GRCm39) |
S1656G |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
| Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,100,151 (GRCm39) |
I271F |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,673,138 (GRCm39) |
N538K |
possibly damaging |
Het |
| Usp28 |
T |
A |
9: 48,911,666 (GRCm39) |
L25I |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
| Vmn2r42 |
A |
T |
7: 8,197,779 (GRCm39) |
F280Y |
possibly damaging |
Het |
| Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,396 (GRCm39) |
Q377R |
probably benign |
Het |
| Zfp947 |
C |
A |
17: 22,364,801 (GRCm39) |
G291V |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,927,656 (GRCm39) |
T366A |
probably benign |
Het |
|
| Other mutations in Vwa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Vwa2
|
APN |
19 |
56,890,066 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02081:Vwa2
|
APN |
19 |
56,890,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02738:Vwa2
|
APN |
19 |
56,886,361 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
H8786:Vwa2
|
UTSW |
19 |
56,898,164 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0510:Vwa2
|
UTSW |
19 |
56,886,500 (GRCm39) |
splice site |
probably benign |
|
|
R1061:Vwa2
|
UTSW |
19 |
56,897,426 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1350:Vwa2
|
UTSW |
19 |
56,897,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Vwa2
|
UTSW |
19 |
56,869,570 (GRCm39) |
missense |
unknown |
|
|
R1403:Vwa2
|
UTSW |
19 |
56,869,570 (GRCm39) |
missense |
unknown |
|
|
R1918:Vwa2
|
UTSW |
19 |
56,897,366 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2046:Vwa2
|
UTSW |
19 |
56,894,010 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4278:Vwa2
|
UTSW |
19 |
56,891,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4745:Vwa2
|
UTSW |
19 |
56,895,318 (GRCm39) |
missense |
probably benign |
|
|
R5081:Vwa2
|
UTSW |
19 |
56,897,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Vwa2
|
UTSW |
19 |
56,897,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5959:Vwa2
|
UTSW |
19 |
56,869,604 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6151:Vwa2
|
UTSW |
19 |
56,891,897 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6361:Vwa2
|
UTSW |
19 |
56,889,958 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6861:Vwa2
|
UTSW |
19 |
56,890,025 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7286:Vwa2
|
UTSW |
19 |
56,897,791 (GRCm39) |
missense |
probably benign |
|
|
R7653:Vwa2
|
UTSW |
19 |
56,897,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Vwa2
|
UTSW |
19 |
56,897,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Vwa2
|
UTSW |
19 |
56,886,320 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8501:Vwa2
|
UTSW |
19 |
56,897,414 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8674:Vwa2
|
UTSW |
19 |
56,875,427 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9167:Vwa2
|
UTSW |
19 |
56,899,063 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9460:Vwa2
|
UTSW |
19 |
56,886,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9526:Vwa2
|
UTSW |
19 |
56,895,208 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0020:Vwa2
|
UTSW |
19 |
56,897,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Vwa2
|
UTSW |
19 |
56,875,417 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGGTGATGACGGTCCAG -3'
(R):5'- CATGGTCGGTAACACTGGAG -3'
Sequencing Primer
(F):5'- TGACGGTCCAGAGGGGTG -3'
(R):5'- TCGGTAACACTGGAGAAGTTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation