Incidental Mutation 'R6312:Bmper'
| ID |
509823 |
| 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 |
044415-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6312 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
23134372-23396496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23318087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 569
(Q569K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071982]
|
| AlphaFold |
Q8CJ69 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071982
AA Change: Q569K
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: Q569K
| 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: Q200K
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,936,541 (GRCm39) |
S472P |
possibly damaging |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,072 (GRCm39) |
H164L |
probably benign |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| AC153874.1 |
T |
A |
10: 77,682,961 (GRCm39) |
|
probably benign |
Het |
| Acadvl |
T |
A |
11: 69,902,593 (GRCm39) |
M375L |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arl4d |
T |
C |
11: 101,558,079 (GRCm39) |
*202R |
probably null |
Het |
| B3gat2 |
G |
T |
1: 23,854,548 (GRCm39) |
E83* |
probably null |
Het |
| C2cd4d |
C |
A |
3: 94,271,742 (GRCm39) |
P336H |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,891,960 (GRCm39) |
S363T |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,644,996 (GRCm39) |
V119A |
probably benign |
Het |
| Cfhr2 |
C |
T |
1: 139,758,817 (GRCm39) |
V78I |
possibly damaging |
Het |
| Crocc2 |
A |
T |
1: 93,143,432 (GRCm39) |
K1345* |
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,702,268 (GRCm39) |
M255T |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,930,669 (GRCm39) |
I834F |
possibly damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,289,671 (GRCm39) |
K205* |
probably null |
Het |
| Epg5 |
T |
A |
18: 78,022,426 (GRCm39) |
D1056E |
possibly damaging |
Het |
| Fam20a |
A |
C |
11: 109,565,456 (GRCm39) |
C452G |
probably damaging |
Het |
| Gnai2 |
A |
T |
9: 107,512,316 (GRCm39) |
V34E |
probably damaging |
Het |
| Gng3 |
A |
G |
19: 8,815,997 (GRCm39) |
V7A |
probably benign |
Het |
| Hdc |
A |
G |
2: 126,449,326 (GRCm39) |
V77A |
possibly damaging |
Het |
| Hint1 |
G |
A |
11: 54,760,816 (GRCm39) |
C85Y |
probably benign |
Het |
| Kif17 |
C |
T |
4: 138,015,504 (GRCm39) |
S551L |
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,288,829 (GRCm39) |
L581P |
probably damaging |
Het |
| Lig4 |
G |
T |
8: 10,021,739 (GRCm39) |
N680K |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,370,803 (GRCm39) |
Y138F |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,267,025 (GRCm39) |
G4294E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,246 (GRCm39) |
M1165T |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,396,175 (GRCm39) |
I489T |
possibly damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,119,223 (GRCm39) |
N24I |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,148,821 (GRCm39) |
T143A |
probably benign |
Het |
| Nudt2 |
A |
G |
4: 41,480,386 (GRCm39) |
T90A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,477 (GRCm39) |
I300L |
probably benign |
Het |
| Or52n20 |
T |
A |
7: 104,320,796 (GRCm39) |
Y296N |
probably damaging |
Het |
| Or8b36 |
GTTT |
GTTTGCTGTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTT |
TTTGCTGATT |
9: 37,937,843 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
T |
TGCTGTTC |
9: 37,937,845 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
| Or8k53 |
A |
T |
2: 86,177,925 (GRCm39) |
F62I |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,853,119 (GRCm39) |
V592A |
probably damaging |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rusf1 |
T |
C |
7: 127,872,715 (GRCm39) |
K411R |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,135,457 (GRCm39) |
S381P |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,987,679 (GRCm39) |
L676P |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,434,300 (GRCm39) |
|
probably null |
Het |
| Tectb |
CT |
C |
19: 55,181,094 (GRCm39) |
|
probably null |
Homo |
| Tma16 |
T |
C |
8: 66,934,118 (GRCm39) |
E79G |
probably damaging |
Het |
| Trim14 |
G |
T |
4: 46,507,257 (GRCm39) |
H320N |
probably damaging |
Het |
| Trim63 |
A |
G |
4: 134,053,008 (GRCm39) |
D323G |
probably damaging |
Het |
| Vash2 |
C |
A |
1: 190,690,880 (GRCm39) |
R309L |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,679,083 (GRCm39) |
V255M |
possibly damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,332,566 (GRCm39) |
|
probably null |
Het |
| Zfp382 |
G |
A |
7: 29,833,963 (GRCm39) |
R538H |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,673,184 (GRCm39) |
D49E |
probably benign |
Het |
| Zfp60 |
T |
C |
7: 27,448,201 (GRCm39) |
C290R |
probably damaging |
Het |
| Zfp69 |
G |
A |
4: 120,806,714 (GRCm39) |
|
probably benign |
Het |
| Zfp790 |
G |
T |
7: 29,527,647 (GRCm39) |
G111W |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,807,429 (GRCm39) |
I207T |
possibly damaging |
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 |
|
R5963:Bmper
|
UTSW |
9 |
23,286,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- TGGGAACTTCAAGTTTGACGTG -3'
(R):5'- AGAAGACAAGCCTGGAATACTTC -3'
Sequencing Primer
(F):5'- GAACTTCAAGTTTGACGTGGATGAC -3'
(R):5'- TTTAGACAAGATGAGTTACTGAGCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation