Incidental Mutation 'R0722:Bmper'
| ID |
63564 |
| 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 |
038904-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0722 (G1)
|
| Quality Score |
87 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
23134372-23396496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 23285224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 258
(V258L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071982]
|
| AlphaFold |
Q8CJ69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071982
AA Change: V258L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: V258L
| 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 |
probably benign
Transcript: ENSMUST00000214050
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
T |
C |
11: 80,047,810 (GRCm39) |
F89L |
possibly damaging |
Het |
| Akr1c13 |
A |
G |
13: 4,247,931 (GRCm39) |
|
probably null |
Het |
| Atp10a |
A |
G |
7: 58,465,931 (GRCm39) |
I1053V |
possibly damaging |
Het |
| Brd4 |
T |
C |
17: 32,431,956 (GRCm39) |
H636R |
possibly damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Ccbe1 |
C |
T |
18: 66,217,877 (GRCm39) |
C112Y |
probably damaging |
Het |
| Ccdc28b |
T |
A |
4: 129,514,945 (GRCm39) |
|
probably null |
Het |
| Cd320 |
T |
C |
17: 34,065,004 (GRCm39) |
S46P |
possibly damaging |
Het |
| Cfap251 |
T |
A |
5: 123,394,248 (GRCm39) |
V379E |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,225,039 (GRCm39) |
E95K |
possibly damaging |
Het |
| Clpp |
T |
C |
17: 57,299,901 (GRCm39) |
V144A |
probably damaging |
Het |
| Crtam |
A |
T |
9: 40,903,912 (GRCm39) |
C96S |
probably damaging |
Het |
| Dcst1 |
C |
T |
3: 89,261,112 (GRCm39) |
R480H |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,414,970 (GRCm39) |
|
probably benign |
Het |
| Ermard |
A |
G |
17: 15,242,390 (GRCm39) |
T189A |
probably benign |
Het |
| Gm10840 |
A |
G |
11: 106,051,902 (GRCm39) |
|
probably benign |
Het |
| Gm4845 |
T |
A |
1: 141,184,598 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr1 |
A |
G |
13: 12,420,918 (GRCm39) |
E403G |
probably benign |
Het |
| Herc4 |
A |
G |
10: 63,121,844 (GRCm39) |
I399V |
probably null |
Het |
| Htr1f |
A |
G |
16: 64,746,254 (GRCm39) |
I346T |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,934,382 (GRCm39) |
|
probably null |
Het |
| Jmy |
G |
A |
13: 93,589,325 (GRCm39) |
T644I |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Krt13 |
T |
G |
11: 100,009,979 (GRCm39) |
K297T |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,513,296 (GRCm39) |
|
probably null |
Het |
| Lrrc8b |
T |
C |
5: 105,627,978 (GRCm39) |
V108A |
possibly damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,727,414 (GRCm39) |
V26E |
probably damaging |
Het |
| Or10g6 |
A |
G |
9: 39,934,295 (GRCm39) |
D202G |
probably damaging |
Het |
| Or5p6 |
A |
G |
7: 107,631,541 (GRCm39) |
F3S |
probably benign |
Het |
| Pcna |
A |
G |
2: 132,093,155 (GRCm39) |
|
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,265,022 (GRCm39) |
R348* |
probably null |
Het |
| Pikfyve |
T |
G |
1: 65,292,682 (GRCm39) |
S1378A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,064,892 (GRCm39) |
V472A |
probably benign |
Het |
| Pld5 |
A |
G |
1: 175,803,081 (GRCm39) |
F395L |
probably benign |
Het |
| Plekhb1 |
A |
T |
7: 100,294,810 (GRCm39) |
Y169N |
probably damaging |
Het |
| Polr2c |
T |
A |
8: 95,589,265 (GRCm39) |
Y186N |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prr5l |
A |
G |
2: 101,547,819 (GRCm39) |
|
probably benign |
Het |
| Ptbp2 |
C |
T |
3: 119,514,570 (GRCm39) |
R419Q |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,230,451 (GRCm39) |
V1038A |
probably damaging |
Het |
| Rassf2 |
A |
G |
2: 131,844,830 (GRCm39) |
V204A |
probably damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,119,949 (GRCm39) |
|
probably null |
Het |
| Slit1 |
T |
C |
19: 41,596,874 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Smc5 |
C |
A |
19: 23,186,291 (GRCm39) |
L1055F |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,730,645 (GRCm39) |
F620S |
probably damaging |
Het |
| Susd1 |
A |
G |
4: 59,379,749 (GRCm39) |
S293P |
possibly damaging |
Het |
| Tepsin |
A |
G |
11: 119,986,163 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,870,794 (GRCm39) |
L830I |
possibly damaging |
Het |
| Vtn |
A |
G |
11: 78,391,680 (GRCm39) |
|
probably benign |
Het |
| Zfp267 |
C |
T |
3: 36,219,218 (GRCm39) |
H414Y |
probably benign |
Het |
| Zfp280d |
T |
G |
9: 72,219,383 (GRCm39) |
S162A |
possibly damaging |
Het |
| Zfp608 |
T |
G |
18: 55,033,306 (GRCm39) |
K409T |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,643 (GRCm39) |
M116K |
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 |
|
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 |
|
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'- CACCATGTTGTGCTGAAATGAGCC -3'
(R):5'- ACAGGATTCATCTCAGGTAGAGCCC -3'
Sequencing Primer
(F):5'- TGTGCTGAAATGAGCCTAACTCC -3'
(R):5'- AGAACACAGCCCTCTGTATTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation