Incidental Mutation 'R5883:Bmper'
| ID |
454526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmper
|
| Ensembl Gene |
ENSMUSG00000031963 |
| Gene Name |
BMP-binding endothelial regulator |
| Synonyms |
Crim3, crossveinless-2, Cv2, CV-2, 3110056H04Rik |
| MMRRC Submission |
044086-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5883 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
23134372-23396496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23317970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 530
(S530T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071982]
|
| AlphaFold |
Q8CJ69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071982
AA Change: S530T
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: S530T
| Domain | Start | End | E-Value | Type |
|---|
|
VWC
|
50 |
105 |
1.57e-2 |
SMART |
|
VWC
|
108 |
163 |
1.89e-1 |
SMART |
|
VWC
|
166 |
224 |
7.27e-7 |
SMART |
|
VWC
|
238 |
289 |
3.34e-6 |
SMART |
|
VWC
|
301 |
357 |
1.7e-7 |
SMART |
|
VWD
|
355 |
513 |
3.75e-41 |
SMART |
|
C8
|
553 |
625 |
1.07e-14 |
SMART |
|
Pfam:TIL
|
629 |
682 |
2.5e-13 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000214050
AA Change: S161T
|
| Meta Mutation Damage Score |
0.0887 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.9%
- 20x: 83.7%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
FUNCTION: This gene encodes a secreted protein that contains five Von Willebrand factor type C domains and a Von Willebrand factor type D domain and a trypsin inhibitory-like domain. The encoded protein binds to bone morphogenetic proteins (BMP) and regulates their activity. Mutation of the related gene in humans causes diaphanospondylodysostosis. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out mutation exhibit neonatal lethality associated with abnormal lung and skeleton development. Mice heterozygous for a null allele exhibit abnromal lung development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
A |
8: 120,872,380 (GRCm39) |
V103I |
possibly damaging |
Het |
| Aass |
G |
A |
6: 23,072,993 (GRCm39) |
T920I |
probably benign |
Het |
| Akirin2 |
A |
G |
4: 34,565,256 (GRCm39) |
I168V |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,615,688 (GRCm39) |
Y372* |
probably null |
Het |
| Ano3 |
T |
A |
2: 110,711,209 (GRCm39) |
E85V |
probably null |
Het |
| Bmf |
C |
T |
2: 118,377,447 (GRCm39) |
|
silent |
Het |
| Bop1 |
T |
C |
15: 76,339,049 (GRCm39) |
D383G |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,440,363 (GRCm39) |
Y156N |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,595,896 (GRCm39) |
V1987A |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,700,405 (GRCm39) |
V174A |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,359,261 (GRCm39) |
L997Q |
probably benign |
Het |
| Chil4 |
C |
T |
3: 106,117,886 (GRCm39) |
R128H |
possibly damaging |
Het |
| Cpne3 |
A |
T |
4: 19,552,314 (GRCm39) |
V106D |
possibly damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,943,879 (GRCm39) |
E425G |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,824,008 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,369,711 (GRCm39) |
H4379N |
probably damaging |
Het |
| Gm10309 |
A |
G |
17: 86,806,185 (GRCm39) |
|
probably benign |
Het |
| Gm6264 |
G |
A |
1: 85,148,903 (GRCm39) |
|
probably benign |
Het |
| Has2 |
T |
A |
15: 56,531,459 (GRCm39) |
I419F |
possibly damaging |
Het |
| Hscb |
A |
G |
5: 110,987,444 (GRCm39) |
C51R |
probably benign |
Het |
| Ighv1-61 |
T |
C |
12: 115,323,183 (GRCm39) |
S4G |
probably benign |
Het |
| Islr2 |
G |
T |
9: 58,105,998 (GRCm39) |
Q465K |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,715,059 (GRCm39) |
I156V |
possibly damaging |
Het |
| Klk1b24 |
A |
G |
7: 43,839,787 (GRCm39) |
I49V |
probably benign |
Het |
| Krt90 |
C |
T |
15: 101,461,654 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
C |
T |
11: 57,933,125 (GRCm39) |
S243F |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,318,778 (GRCm39) |
Y872H |
probably benign |
Het |
| Maip1 |
T |
C |
1: 57,446,260 (GRCm39) |
M110T |
probably damaging |
Het |
| Marchf7 |
G |
A |
2: 60,064,786 (GRCm39) |
R354Q |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,998,889 (GRCm39) |
E605D |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,110,049 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
T |
A |
7: 139,980,101 (GRCm39) |
Y286F |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,078 (GRCm39) |
C168S |
probably damaging |
Het |
| Or5p66 |
C |
T |
7: 107,885,451 (GRCm39) |
S294N |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,267,776 (GRCm39) |
E13V |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,635,535 (GRCm39) |
A1100T |
possibly damaging |
Het |
| Prkdc |
C |
A |
16: 15,533,778 (GRCm39) |
Q1539K |
probably benign |
Het |
| Rad54l |
C |
G |
4: 115,956,243 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,573,389 (GRCm39) |
I943N |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,995,651 (GRCm39) |
|
probably null |
Het |
| Rpl12 |
T |
C |
2: 32,852,536 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,860,637 (GRCm39) |
|
probably benign |
Het |
| Scarb1 |
C |
A |
5: 125,417,971 (GRCm39) |
|
probably benign |
Het |
| Sox10 |
T |
C |
15: 79,040,463 (GRCm39) |
E359G |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,056,228 (GRCm39) |
T9A |
unknown |
Het |
| Tmem128 |
C |
T |
5: 38,423,885 (GRCm39) |
A33V |
possibly damaging |
Het |
| Tox |
A |
C |
4: 6,697,444 (GRCm39) |
V453G |
probably benign |
Het |
| Ubxn4 |
T |
A |
1: 128,183,867 (GRCm39) |
C76S |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,743,786 (GRCm39) |
Y483F |
probably benign |
Het |
| Xkr5 |
A |
G |
8: 18,990,806 (GRCm39) |
S154P |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
|
| Other mutations in Bmper |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Bmper
|
APN |
9 |
23,317,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00576:Bmper
|
APN |
9 |
23,317,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01115:Bmper
|
APN |
9 |
23,310,985 (GRCm39) |
intron |
probably benign |
|
|
IGL01978:Bmper
|
APN |
9 |
23,292,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02950:Bmper
|
APN |
9 |
23,310,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Bmper
|
APN |
9 |
23,277,544 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
PIT4469001:Bmper
|
UTSW |
9 |
23,317,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4531001:Bmper
|
UTSW |
9 |
23,136,113 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0047:Bmper
|
UTSW |
9 |
23,317,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Bmper
|
UTSW |
9 |
23,317,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0173:Bmper
|
UTSW |
9 |
23,136,125 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0504:Bmper
|
UTSW |
9 |
23,317,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Bmper
|
UTSW |
9 |
23,285,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0722:Bmper
|
UTSW |
9 |
23,285,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2254:Bmper
|
UTSW |
9 |
23,292,759 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2255:Bmper
|
UTSW |
9 |
23,292,759 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2863:Bmper
|
UTSW |
9 |
23,395,237 (GRCm39) |
missense |
probably benign |
|
|
R2865:Bmper
|
UTSW |
9 |
23,395,237 (GRCm39) |
missense |
probably benign |
|
|
R3841:Bmper
|
UTSW |
9 |
23,384,727 (GRCm39) |
splice site |
probably null |
|
|
R4056:Bmper
|
UTSW |
9 |
23,310,925 (GRCm39) |
missense |
probably benign |
|
|
R4105:Bmper
|
UTSW |
9 |
23,136,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4108:Bmper
|
UTSW |
9 |
23,136,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4352:Bmper
|
UTSW |
9 |
23,395,248 (GRCm39) |
missense |
probably benign |
|
|
R4824:Bmper
|
UTSW |
9 |
23,134,956 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4909:Bmper
|
UTSW |
9 |
23,289,021 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5356:Bmper
|
UTSW |
9 |
23,285,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5379:Bmper
|
UTSW |
9 |
23,208,520 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5666:Bmper
|
UTSW |
9 |
23,384,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Bmper
|
UTSW |
9 |
23,384,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Bmper
|
UTSW |
9 |
23,286,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6312:Bmper
|
UTSW |
9 |
23,318,087 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6768:Bmper
|
UTSW |
9 |
23,292,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Bmper
|
UTSW |
9 |
23,285,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6907:Bmper
|
UTSW |
9 |
23,310,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Bmper
|
UTSW |
9 |
23,310,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Bmper
|
UTSW |
9 |
23,395,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Bmper
|
UTSW |
9 |
23,286,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7483:Bmper
|
UTSW |
9 |
23,395,238 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7686:Bmper
|
UTSW |
9 |
23,310,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7976:Bmper
|
UTSW |
9 |
23,318,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Bmper
|
UTSW |
9 |
23,136,126 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8905:Bmper
|
UTSW |
9 |
23,318,082 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9096:Bmper
|
UTSW |
9 |
23,134,988 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9260:Bmper
|
UTSW |
9 |
23,318,016 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9642:Bmper
|
UTSW |
9 |
23,395,198 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9751:Bmper
|
UTSW |
9 |
23,318,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9758:Bmper
|
UTSW |
9 |
23,286,902 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAACAATCTGGAGTGGG -3'
(R):5'- GGGTCAGCACATTGTTCTTACC -3'
Sequencing Primer
(F):5'- AACAATCTGGAGTGGGTGATCCTC -3'
(R):5'- CTTACCGGTAGAAAGTGGTATAGTCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation