Incidental Mutation 'R6992:Vwa5b2'
ID |
543933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa5b2
|
Ensembl Gene |
ENSMUSG00000046613 |
Gene Name |
von Willebrand factor A domain containing 5B2 |
Synonyms |
EG328644 |
MMRRC Submission |
045098-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R6992 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
20408221-20424127 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20416952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 550
(Y550N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096197]
[ENSMUST00000100074]
[ENSMUST00000149236]
[ENSMUST00000159780]
|
AlphaFold |
Q3UR50 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096197
AA Change: Y550N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093911 Gene: ENSMUSG00000046613 AA Change: Y550N
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
7.3e-31 |
PFAM |
VWA
|
352 |
521 |
3.16e-1 |
SMART |
low complexity region
|
684 |
706 |
N/A |
INTRINSIC |
low complexity region
|
725 |
733 |
N/A |
INTRINSIC |
low complexity region
|
744 |
764 |
N/A |
INTRINSIC |
low complexity region
|
780 |
797 |
N/A |
INTRINSIC |
low complexity region
|
823 |
833 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1046 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100074
AA Change: Y550N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097652 Gene: ENSMUSG00000046613 AA Change: Y550N
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
1.9e-31 |
PFAM |
VWA
|
352 |
521 |
3.16e-1 |
SMART |
low complexity region
|
572 |
586 |
N/A |
INTRINSIC |
low complexity region
|
587 |
602 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149236
|
SMART Domains |
Protein: ENSMUSP00000124117 Gene: ENSMUSG00000046613
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
7.9e-32 |
PFAM |
Blast:VWA
|
352 |
408 |
2e-26 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159780
AA Change: Y550N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123727 Gene: ENSMUSG00000046613 AA Change: Y550N
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
5.5e-31 |
PFAM |
VWA
|
352 |
521 |
3.16e-1 |
SMART |
low complexity region
|
684 |
706 |
N/A |
INTRINSIC |
low complexity region
|
725 |
733 |
N/A |
INTRINSIC |
low complexity region
|
744 |
764 |
N/A |
INTRINSIC |
low complexity region
|
780 |
797 |
N/A |
INTRINSIC |
low complexity region
|
823 |
833 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1046 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1145 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,099,990 (GRCm39) |
S171N |
possibly damaging |
Het |
6030468B19Rik |
T |
G |
11: 117,688,594 (GRCm39) |
M1R |
probably null |
Het |
A730049H05Rik |
T |
C |
6: 92,804,975 (GRCm39) |
|
probably benign |
Het |
AC125199.3 |
G |
T |
16: 88,608,915 (GRCm39) |
H52Q |
possibly damaging |
Het |
Adam34 |
A |
T |
8: 44,105,642 (GRCm39) |
M1K |
probably null |
Het |
Adgrf5 |
T |
C |
17: 43,763,214 (GRCm39) |
|
probably null |
Het |
Antxr2 |
T |
C |
5: 98,108,564 (GRCm39) |
T316A |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,861,542 (GRCm39) |
V714D |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,870,087 (GRCm39) |
S461P |
possibly damaging |
Het |
Cdc16 |
C |
A |
8: 13,809,188 (GRCm39) |
A51E |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,091,339 (GRCm39) |
D1243E |
probably benign |
Het |
Cntf |
A |
T |
19: 12,742,697 (GRCm39) |
I21N |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,266,118 (GRCm39) |
A282V |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,274,958 (GRCm39) |
|
probably null |
Het |
Cyp2b9 |
T |
C |
7: 25,900,564 (GRCm39) |
Y401H |
probably benign |
Het |
Dlgap4 |
A |
G |
2: 156,590,860 (GRCm39) |
|
probably null |
Het |
Fancd2 |
T |
C |
6: 113,547,979 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,608 (GRCm39) |
F474I |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,858,599 (GRCm39) |
V1622A |
possibly damaging |
Het |
Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
Gstm4 |
A |
G |
3: 107,951,981 (GRCm39) |
M3T |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,009,534 (GRCm39) |
D466G |
probably benign |
Het |
Hook2 |
A |
G |
8: 85,729,185 (GRCm39) |
E625G |
probably damaging |
Het |
Hspbp1 |
G |
C |
7: 4,667,714 (GRCm39) |
P260A |
probably benign |
Het |
Igdcc3 |
C |
A |
9: 65,088,853 (GRCm39) |
Q411K |
probably damaging |
Het |
Il18rap |
G |
A |
1: 40,581,195 (GRCm39) |
E356K |
probably benign |
Het |
Inpp4a |
A |
T |
1: 37,428,772 (GRCm39) |
M699L |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,300,531 (GRCm39) |
H157R |
probably damaging |
Het |
Klhl6 |
G |
T |
16: 19,772,337 (GRCm39) |
T336N |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,059,428 (GRCm39) |
|
probably null |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Mlh3 |
T |
A |
12: 85,282,494 (GRCm39) |
N1412Y |
probably damaging |
Het |
Mrps27 |
A |
G |
13: 99,541,522 (GRCm39) |
M209V |
probably benign |
Het |
Mtor |
A |
T |
4: 148,548,932 (GRCm39) |
T572S |
probably benign |
Het |
Neurog1 |
T |
C |
13: 56,399,363 (GRCm39) |
K128R |
probably damaging |
Het |
Or10g6 |
T |
A |
9: 39,933,896 (GRCm39) |
L69* |
probably null |
Het |
Or2b4 |
T |
A |
17: 38,116,754 (GRCm39) |
N239K |
probably damaging |
Het |
Or5b122 |
A |
G |
19: 13,562,811 (GRCm39) |
I48V |
possibly damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,814,652 (GRCm39) |
K381R |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,457,945 (GRCm39) |
D306G |
probably damaging |
Het |
Plekha5 |
C |
T |
6: 140,489,634 (GRCm39) |
T237I |
probably damaging |
Het |
Plscr1l1 |
T |
C |
9: 92,236,725 (GRCm39) |
M128T |
probably benign |
Het |
Pole |
A |
T |
5: 110,480,365 (GRCm39) |
I103F |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,310,715 (GRCm39) |
Q74L |
possibly damaging |
Het |
Ppm1d |
T |
C |
11: 85,223,178 (GRCm39) |
F261S |
probably damaging |
Het |
Psg21 |
A |
T |
7: 18,388,668 (GRCm39) |
|
probably null |
Het |
Ptprg |
T |
A |
14: 11,962,602 (GRCm38) |
F133L |
probably damaging |
Het |
Rom1 |
G |
A |
19: 8,906,569 (GRCm39) |
|
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,412,489 (GRCm39) |
F762L |
probably damaging |
Het |
Sec23ip |
T |
C |
7: 128,367,164 (GRCm39) |
S600P |
probably benign |
Het |
Sema4b |
T |
A |
7: 79,869,900 (GRCm39) |
I396N |
probably damaging |
Het |
Serpina3k |
T |
A |
12: 104,307,366 (GRCm39) |
D199E |
probably benign |
Het |
Slc19a1 |
A |
G |
10: 76,885,540 (GRCm39) |
D480G |
possibly damaging |
Het |
Slc8b1 |
G |
A |
5: 120,665,880 (GRCm39) |
V404M |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,765,330 (GRCm39) |
D304G |
probably benign |
Het |
Smpdl3b |
G |
T |
4: 132,472,452 (GRCm39) |
A107D |
possibly damaging |
Het |
Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,937,940 (GRCm39) |
F203L |
probably benign |
Het |
Tnip1 |
T |
A |
11: 54,809,542 (GRCm39) |
I442F |
probably benign |
Het |
Txnip |
A |
G |
3: 96,466,439 (GRCm39) |
K127R |
possibly damaging |
Het |
Usp32 |
A |
C |
11: 84,922,914 (GRCm39) |
L172R |
probably damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,654,436 (GRCm39) |
S508P |
possibly damaging |
Het |
Wdr81 |
G |
A |
11: 75,342,612 (GRCm39) |
A885V |
probably benign |
Het |
|
Other mutations in Vwa5b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01307:Vwa5b2
|
APN |
16 |
20,423,020 (GRCm39) |
missense |
probably benign |
|
IGL01543:Vwa5b2
|
APN |
16 |
20,414,466 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01719:Vwa5b2
|
APN |
16 |
20,416,183 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02006:Vwa5b2
|
APN |
16 |
20,415,843 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02150:Vwa5b2
|
APN |
16 |
20,423,576 (GRCm39) |
missense |
probably benign |
|
IGL02301:Vwa5b2
|
APN |
16 |
20,423,540 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02373:Vwa5b2
|
APN |
16 |
20,423,594 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02413:Vwa5b2
|
APN |
16 |
20,416,851 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02664:Vwa5b2
|
APN |
16 |
20,414,063 (GRCm39) |
unclassified |
probably benign |
|
R1171:Vwa5b2
|
UTSW |
16 |
20,423,734 (GRCm39) |
missense |
probably benign |
|
R1405:Vwa5b2
|
UTSW |
16 |
20,423,066 (GRCm39) |
missense |
probably benign |
0.00 |
R1405:Vwa5b2
|
UTSW |
16 |
20,423,066 (GRCm39) |
missense |
probably benign |
0.00 |
R1464:Vwa5b2
|
UTSW |
16 |
20,415,019 (GRCm39) |
missense |
probably benign |
0.08 |
R1464:Vwa5b2
|
UTSW |
16 |
20,415,019 (GRCm39) |
missense |
probably benign |
0.08 |
R1730:Vwa5b2
|
UTSW |
16 |
20,419,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R1901:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1902:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1903:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1959:Vwa5b2
|
UTSW |
16 |
20,420,941 (GRCm39) |
critical splice donor site |
probably null |
|
R1961:Vwa5b2
|
UTSW |
16 |
20,420,941 (GRCm39) |
critical splice donor site |
probably null |
|
R3522:Vwa5b2
|
UTSW |
16 |
20,420,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R3687:Vwa5b2
|
UTSW |
16 |
20,410,308 (GRCm39) |
unclassified |
probably benign |
|
R3746:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
R3747:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
R3749:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
R3952:Vwa5b2
|
UTSW |
16 |
20,417,111 (GRCm39) |
makesense |
probably null |
|
R4641:Vwa5b2
|
UTSW |
16 |
20,423,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R4646:Vwa5b2
|
UTSW |
16 |
20,415,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R4772:Vwa5b2
|
UTSW |
16 |
20,419,553 (GRCm39) |
splice site |
probably null |
|
R5032:Vwa5b2
|
UTSW |
16 |
20,419,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R5286:Vwa5b2
|
UTSW |
16 |
20,415,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R5569:Vwa5b2
|
UTSW |
16 |
20,414,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R5585:Vwa5b2
|
UTSW |
16 |
20,413,428 (GRCm39) |
nonsense |
probably null |
|
R5640:Vwa5b2
|
UTSW |
16 |
20,416,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R6330:Vwa5b2
|
UTSW |
16 |
20,420,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Vwa5b2
|
UTSW |
16 |
20,413,429 (GRCm39) |
missense |
probably damaging |
0.98 |
R7102:Vwa5b2
|
UTSW |
16 |
20,422,984 (GRCm39) |
missense |
probably benign |
0.00 |
R7231:Vwa5b2
|
UTSW |
16 |
20,422,878 (GRCm39) |
missense |
probably benign |
0.00 |
R7591:Vwa5b2
|
UTSW |
16 |
20,420,317 (GRCm39) |
missense |
probably damaging |
0.96 |
R7765:Vwa5b2
|
UTSW |
16 |
20,413,361 (GRCm39) |
missense |
probably benign |
|
R8269:Vwa5b2
|
UTSW |
16 |
20,423,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R8311:Vwa5b2
|
UTSW |
16 |
20,409,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R8707:Vwa5b2
|
UTSW |
16 |
20,412,965 (GRCm39) |
missense |
probably benign |
0.01 |
R8716:Vwa5b2
|
UTSW |
16 |
20,415,026 (GRCm39) |
missense |
probably benign |
0.00 |
R8815:Vwa5b2
|
UTSW |
16 |
20,419,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R8965:Vwa5b2
|
UTSW |
16 |
20,415,076 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9245:Vwa5b2
|
UTSW |
16 |
20,416,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9431:Vwa5b2
|
UTSW |
16 |
20,423,046 (GRCm39) |
missense |
probably benign |
0.00 |
R9536:Vwa5b2
|
UTSW |
16 |
20,414,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Vwa5b2
|
UTSW |
16 |
20,422,975 (GRCm39) |
missense |
probably benign |
|
R9727:Vwa5b2
|
UTSW |
16 |
20,423,477 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vwa5b2
|
UTSW |
16 |
20,410,003 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Vwa5b2
|
UTSW |
16 |
20,419,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTATGCTCCCTACCAGTGCAG -3'
(R):5'- GGCATTCTCTATGGGGCTCTAG -3'
Sequencing Primer
(F):5'- TACCAGTGCAGGCCTGG -3'
(R):5'- CTCTAGGGGCCTATAGGATTCTTAGC -3'
|
Posted On |
2019-05-13 |