Incidental Mutation 'R5963:Bmper'
ID |
471884 |
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 |
044148-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5963 (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 23286889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 272
(C272S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071982]
|
AlphaFold |
Q8CJ69 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071982
AA Change: C272S
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000071872 Gene: ENSMUSG00000031963 AA Change: C272S
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: C13S
|
Meta Mutation Damage Score |
0.5099 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
Validation Efficiency |
99% (68/69) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg8 |
A |
G |
7: 97,029,037 (GRCm39) |
K131E |
probably benign |
Het |
Ank3 |
T |
A |
10: 69,823,056 (GRCm39) |
L575* |
probably null |
Het |
Aqr |
T |
C |
2: 113,957,442 (GRCm39) |
T819A |
probably damaging |
Het |
Bbs2 |
A |
T |
8: 94,807,659 (GRCm39) |
S407T |
probably benign |
Het |
Btbd9 |
C |
T |
17: 30,553,192 (GRCm39) |
|
probably null |
Het |
C5ar1 |
A |
G |
7: 15,982,747 (GRCm39) |
V91A |
possibly damaging |
Het |
Ccdc138 |
A |
G |
10: 58,411,579 (GRCm39) |
H649R |
possibly damaging |
Het |
Cfap43 |
A |
T |
19: 47,734,013 (GRCm39) |
V1451E |
probably benign |
Het |
Cfap46 |
T |
A |
7: 139,231,511 (GRCm39) |
M901L |
probably damaging |
Het |
Cherp |
G |
T |
8: 73,215,379 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
C |
T |
2: 104,078,630 (GRCm39) |
V1229I |
possibly damaging |
Het |
Fat4 |
A |
C |
3: 39,064,696 (GRCm39) |
D4884A |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,351,480 (GRCm39) |
F243L |
probably damaging |
Het |
Garem1 |
T |
A |
18: 21,262,487 (GRCm39) |
I776F |
probably benign |
Het |
Gpr87 |
T |
A |
3: 59,086,690 (GRCm39) |
R272* |
probably null |
Het |
Gsdmc |
A |
T |
15: 63,651,965 (GRCm39) |
|
probably null |
Het |
Hydin |
T |
A |
8: 111,220,926 (GRCm39) |
F1441I |
possibly damaging |
Het |
Ints11 |
T |
A |
4: 155,957,369 (GRCm39) |
C63* |
probably null |
Het |
Kdm4b |
A |
T |
17: 56,706,732 (GRCm39) |
T908S |
probably damaging |
Het |
Lipn |
A |
G |
19: 34,058,700 (GRCm39) |
D304G |
probably damaging |
Het |
Man2a1 |
T |
G |
17: 64,982,117 (GRCm39) |
N544K |
probably benign |
Het |
Mapkapk5 |
G |
T |
5: 121,676,544 (GRCm39) |
H66N |
probably damaging |
Het |
Mog |
G |
A |
17: 37,323,240 (GRCm39) |
R233* |
probably null |
Het |
Mrps24 |
A |
T |
11: 5,657,481 (GRCm39) |
|
probably benign |
Het |
Nom1 |
T |
C |
5: 29,642,768 (GRCm39) |
L423P |
probably damaging |
Het |
Or51b6 |
T |
A |
7: 103,556,168 (GRCm39) |
V174E |
probably benign |
Het |
Pcdha1 |
T |
A |
18: 37,064,224 (GRCm39) |
V296E |
probably damaging |
Het |
Pdcd2 |
T |
C |
17: 15,746,656 (GRCm39) |
K168E |
possibly damaging |
Het |
Pdcd2 |
G |
T |
17: 15,746,657 (GRCm39) |
H167Q |
probably damaging |
Het |
Pla2g12b |
T |
A |
10: 59,239,780 (GRCm39) |
V63D |
probably damaging |
Het |
Pnn |
C |
T |
12: 59,114,617 (GRCm39) |
R56* |
probably null |
Het |
Primpol |
T |
A |
8: 47,046,615 (GRCm39) |
E227V |
possibly damaging |
Het |
Rad54l |
A |
T |
4: 115,967,584 (GRCm39) |
W233R |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,300,578 (GRCm39) |
D103V |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,091,819 (GRCm39) |
S1511P |
probably benign |
Het |
Septin5 |
T |
C |
16: 18,442,962 (GRCm39) |
|
probably null |
Het |
Simc1 |
T |
A |
13: 54,673,632 (GRCm39) |
I660K |
possibly damaging |
Het |
Slc15a5 |
A |
G |
6: 138,056,691 (GRCm39) |
L75P |
probably damaging |
Het |
Slc9a2 |
A |
G |
1: 40,721,196 (GRCm39) |
S55G |
possibly damaging |
Het |
Slit3 |
C |
T |
11: 35,591,063 (GRCm39) |
R1292C |
probably damaging |
Het |
Slitrk3 |
A |
G |
3: 72,958,046 (GRCm39) |
V242A |
probably benign |
Het |
St14 |
A |
T |
9: 31,017,853 (GRCm39) |
|
probably benign |
Het |
Tnnt2 |
T |
C |
1: 135,771,600 (GRCm39) |
|
probably benign |
Het |
Traf5 |
G |
A |
1: 191,731,977 (GRCm39) |
T288I |
probably benign |
Het |
Trerf1 |
C |
T |
17: 47,625,263 (GRCm39) |
|
noncoding transcript |
Het |
Vegfc |
A |
G |
8: 54,634,319 (GRCm39) |
N333D |
probably benign |
Het |
Vmn1r65 |
T |
A |
7: 6,011,608 (GRCm39) |
I209F |
probably damaging |
Het |
Vps51 |
A |
G |
19: 6,118,320 (GRCm39) |
L725P |
probably damaging |
Het |
Vps8 |
T |
C |
16: 21,288,871 (GRCm39) |
I408T |
possibly damaging |
Het |
Wdr72 |
T |
C |
9: 74,052,310 (GRCm39) |
Y114H |
probably damaging |
Het |
Ybx2 |
A |
G |
11: 69,831,918 (GRCm39) |
E164G |
probably damaging |
Het |
Zcchc14 |
A |
T |
8: 122,355,362 (GRCm39) |
|
probably benign |
Het |
Zfp383 |
A |
G |
7: 29,615,103 (GRCm39) |
T453A |
possibly damaging |
Het |
Zfp84 |
G |
T |
7: 29,476,378 (GRCm39) |
G357C |
probably damaging |
Het |
Zmynd11 |
G |
T |
13: 9,745,931 (GRCm39) |
|
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 |
R5883:Bmper
|
UTSW |
9 |
23,317,970 (GRCm39) |
missense |
probably benign |
0.28 |
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'- AGTGTGGTAAACCCTCTCCTG -3'
(R):5'- TTTGATGGCTCCCACAAGC -3'
Sequencing Primer
(F):5'- GTGTGGTAAACCCTCTCCTGCTATAG -3'
(R):5'- TGATGGCTCCCACAAGCTCATG -3'
|
Posted On |
2017-03-31 |