Incidental Mutation 'R5750:Vwa2'
ID |
445994 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa2
|
Ensembl Gene |
ENSMUSG00000025082 |
Gene Name |
von Willebrand factor A domain containing 2 |
Synonyms |
Amaco |
MMRRC Submission |
043356-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5750 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
56862848-56900510 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 56897663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 656
(G656V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026068]
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
|
AlphaFold |
Q70UZ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026068
AA Change: G656V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000026068 Gene: ENSMUSG00000025082 AA Change: G656V
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (55/55) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agmat |
G |
A |
4: 141,476,998 (GRCm39) |
V135I |
probably benign |
Het |
Agr3 |
T |
C |
12: 35,996,941 (GRCm39) |
Y72H |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,757,955 (GRCm39) |
M883K |
probably benign |
Het |
Cpeb1 |
A |
T |
7: 81,086,099 (GRCm39) |
D9E |
probably benign |
Het |
Creb3l1 |
C |
T |
2: 91,816,608 (GRCm39) |
V386M |
possibly damaging |
Het |
Dnlz |
C |
T |
2: 26,241,423 (GRCm39) |
V102M |
probably damaging |
Het |
Esp4 |
C |
T |
17: 40,913,286 (GRCm39) |
T51M |
probably benign |
Het |
Fap |
C |
A |
2: 62,359,058 (GRCm39) |
C443F |
probably damaging |
Het |
Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
Fpr1 |
T |
A |
17: 18,097,525 (GRCm39) |
I155F |
probably benign |
Het |
Fshr |
T |
A |
17: 89,293,669 (GRCm39) |
L336F |
probably benign |
Het |
Gna15 |
G |
A |
10: 81,345,230 (GRCm39) |
Q212* |
probably null |
Het |
Hk1 |
A |
G |
10: 62,110,245 (GRCm39) |
F785L |
possibly damaging |
Het |
Ints8 |
T |
A |
4: 11,241,654 (GRCm39) |
Q263L |
possibly damaging |
Het |
Itgax |
T |
C |
7: 127,743,878 (GRCm39) |
F880L |
probably benign |
Het |
Kcnq4 |
A |
C |
4: 120,572,246 (GRCm39) |
V327G |
probably damaging |
Het |
Kdm4a |
A |
G |
4: 117,999,396 (GRCm39) |
|
probably benign |
Het |
Leng8 |
C |
T |
7: 4,145,119 (GRCm39) |
S173L |
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,348,923 (GRCm39) |
D2591N |
unknown |
Het |
Macrod2 |
T |
A |
2: 141,357,240 (GRCm39) |
S179T |
probably benign |
Het |
Map4k2 |
T |
A |
19: 6,401,367 (GRCm39) |
S612R |
probably benign |
Het |
Mast2 |
A |
G |
4: 116,166,086 (GRCm39) |
|
probably benign |
Het |
Micall2 |
C |
T |
5: 139,701,456 (GRCm39) |
|
probably null |
Het |
Miga2 |
T |
A |
2: 30,261,577 (GRCm39) |
W191R |
probably damaging |
Het |
Mterf1b |
T |
C |
5: 4,246,683 (GRCm39) |
I108T |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,082,254 (GRCm39) |
I1319V |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,809,450 (GRCm39) |
E234G |
probably benign |
Het |
Ncoa4 |
T |
A |
14: 31,899,264 (GRCm39) |
C602* |
probably null |
Het |
Ntrk2 |
C |
A |
13: 58,956,736 (GRCm39) |
P65Q |
probably benign |
Het |
Or52z15 |
G |
A |
7: 103,332,362 (GRCm39) |
V136I |
possibly damaging |
Het |
Or6c215 |
C |
T |
10: 129,637,489 (GRCm39) |
V302M |
probably benign |
Het |
P3h1 |
A |
T |
4: 119,095,863 (GRCm39) |
I324F |
probably damaging |
Het |
Peli2 |
G |
T |
14: 48,493,632 (GRCm39) |
V285L |
possibly damaging |
Het |
Qser1 |
A |
G |
2: 104,619,268 (GRCm39) |
S515P |
probably damaging |
Het |
Rnf31 |
C |
T |
14: 55,836,143 (GRCm39) |
R721C |
probably damaging |
Het |
Rps5 |
A |
G |
7: 12,659,334 (GRCm39) |
K42E |
probably damaging |
Het |
Rufy4 |
A |
T |
1: 74,172,068 (GRCm39) |
T264S |
probably benign |
Het |
Shq1 |
A |
T |
6: 100,588,775 (GRCm39) |
V259D |
possibly damaging |
Het |
Slc22a3 |
T |
C |
17: 12,652,395 (GRCm39) |
I410V |
probably benign |
Het |
Stx5a |
T |
C |
19: 8,732,501 (GRCm39) |
|
probably benign |
Het |
Syne1 |
G |
T |
10: 5,289,209 (GRCm39) |
H1430Q |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,623,642 (GRCm39) |
Q1421* |
probably null |
Het |
Tmem126b |
A |
C |
7: 90,118,865 (GRCm39) |
V141G |
probably damaging |
Het |
Trim52 |
C |
A |
14: 106,344,932 (GRCm39) |
Q197K |
probably benign |
Het |
Tshz1 |
A |
G |
18: 84,032,086 (GRCm39) |
L774P |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,602,031 (GRCm39) |
S10217G |
possibly damaging |
Het |
Unc45a |
A |
G |
7: 79,984,571 (GRCm39) |
V228A |
probably benign |
Het |
Unc93a2 |
C |
T |
17: 7,637,130 (GRCm39) |
V133I |
probably benign |
Het |
Xpo5 |
T |
C |
17: 46,529,556 (GRCm39) |
|
probably null |
Het |
Zeb2 |
T |
A |
2: 44,887,530 (GRCm39) |
Q494L |
probably damaging |
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 |
R3943:Vwa2
|
UTSW |
19 |
56,897,747 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGATGTGACACAGGTTGGC -3'
(R):5'- AGGGCCCTAACAGATGTGTTC -3'
Sequencing Primer
(F):5'- TTCGGGCTAGACACCCATC -3'
(R):5'- AGGGCCCTAACAGATGTGTTCTTATC -3'
|
Posted On |
2016-11-21 |