Incidental Mutation 'R9096:Bmper'
ID |
691364 |
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 |
068911-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9096 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
23134372-23396496 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23134988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 18
(S18P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071982]
|
AlphaFold |
Q8CJ69 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071982
AA Change: S18P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000071872 Gene: ENSMUSG00000031963 AA Change: S18P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (57/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
A |
T |
5: 113,339,793 (GRCm39) |
V73E |
|
Het |
Abhd12b |
T |
A |
12: 70,210,207 (GRCm39) |
Y128N |
probably damaging |
Het |
Arhgap40 |
A |
T |
2: 158,389,584 (GRCm39) |
M586L |
probably benign |
Het |
Armt1 |
T |
C |
10: 4,384,829 (GRCm39) |
S15P |
probably damaging |
Het |
Arnt |
G |
T |
3: 95,397,588 (GRCm39) |
S535I |
probably benign |
Het |
Catsperg1 |
G |
C |
7: 28,884,152 (GRCm39) |
T987R |
probably damaging |
Het |
Col9a1 |
A |
T |
1: 24,224,207 (GRCm39) |
I130F |
unknown |
Het |
Dennd1a |
G |
T |
2: 37,690,077 (GRCm39) |
L1008I |
probably damaging |
Het |
Depdc1a |
T |
A |
3: 159,204,117 (GRCm39) |
D55E |
probably benign |
Het |
Dlc1 |
A |
T |
8: 37,080,721 (GRCm39) |
I10N |
probably benign |
Het |
Dnah1 |
T |
A |
14: 30,983,027 (GRCm39) |
I4203F |
probably damaging |
Het |
Dzank1 |
G |
T |
2: 144,316,882 (GRCm39) |
L767I |
possibly damaging |
Het |
Eprs1 |
C |
A |
1: 185,139,303 (GRCm39) |
A896E |
probably benign |
Het |
Fryl |
T |
C |
5: 73,265,920 (GRCm39) |
D467G |
probably benign |
Het |
Gab3 |
TTC |
TTCCTC |
X: 74,043,610 (GRCm39) |
|
probably benign |
Het |
Gimd1 |
T |
A |
3: 132,340,661 (GRCm39) |
M59K |
probably benign |
Het |
Gm3667 |
T |
C |
14: 18,270,388 (GRCm39) |
Y139C |
probably damaging |
Het |
Gng2 |
T |
A |
14: 19,941,471 (GRCm39) |
|
probably null |
Het |
Gpr162 |
A |
G |
6: 124,836,570 (GRCm39) |
I367T |
probably benign |
Het |
Hacd4 |
A |
G |
4: 88,355,695 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,532,869 (GRCm39) |
V3105M |
probably benign |
Het |
Iws1 |
T |
C |
18: 32,216,373 (GRCm39) |
V371A |
probably benign |
Het |
Kctd10 |
C |
T |
5: 114,508,232 (GRCm39) |
R92Q |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,631,418 (GRCm39) |
F643L |
possibly damaging |
Het |
Lpgat1 |
T |
C |
1: 191,451,569 (GRCm39) |
V65A |
possibly damaging |
Het |
Lrrk2 |
C |
T |
15: 91,557,459 (GRCm39) |
|
probably benign |
Het |
Magel2 |
A |
G |
7: 62,030,297 (GRCm39) |
D1067G |
unknown |
Het |
Mrc2 |
A |
G |
11: 105,231,398 (GRCm39) |
D777G |
probably damaging |
Het |
Nol10 |
T |
A |
12: 17,466,199 (GRCm39) |
D531E |
probably benign |
Het |
Odf2 |
T |
A |
2: 29,783,508 (GRCm39) |
V103D |
probably damaging |
Het |
Or4f7 |
T |
A |
2: 111,644,196 (GRCm39) |
K292* |
probably null |
Het |
Pcdhb21 |
A |
G |
18: 37,648,071 (GRCm39) |
Y400C |
probably damaging |
Het |
Pkn2 |
C |
T |
3: 142,515,249 (GRCm39) |
R695Q |
probably benign |
Het |
Pld3 |
A |
G |
7: 27,232,089 (GRCm39) |
V397A |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 4,906,012 (GRCm39) |
D189G |
probably damaging |
Het |
Ppp2r1b |
A |
G |
9: 50,777,856 (GRCm39) |
K267R |
probably benign |
Het |
Prkca |
A |
G |
11: 107,905,061 (GRCm39) |
S226P |
probably benign |
Het |
Ptpru |
T |
C |
4: 131,499,843 (GRCm39) |
N1267S |
probably damaging |
Het |
Pxn |
T |
A |
5: 115,686,680 (GRCm39) |
C391S |
probably benign |
Het |
Rars1 |
T |
C |
11: 35,718,256 (GRCm39) |
E136G |
probably benign |
Het |
Rrp12 |
A |
T |
19: 41,878,577 (GRCm39) |
D189E |
probably benign |
Het |
Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Sdc1 |
T |
C |
12: 8,841,665 (GRCm39) |
L265P |
probably damaging |
Het |
Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
Tasp1 |
A |
T |
2: 139,725,690 (GRCm39) |
|
probably null |
Het |
Telo2 |
T |
C |
17: 25,324,066 (GRCm39) |
T550A |
probably benign |
Het |
Tmem131l |
A |
T |
3: 83,850,122 (GRCm39) |
N225K |
probably damaging |
Het |
Tmem260 |
T |
A |
14: 48,757,803 (GRCm39) |
V706D |
unknown |
Het |
Tnr |
T |
A |
1: 159,677,804 (GRCm39) |
M63K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,572,413 (GRCm39) |
I26160T |
probably damaging |
Het |
Ubap1 |
T |
C |
4: 41,379,872 (GRCm39) |
|
probably null |
Het |
Ush2a |
C |
T |
1: 188,198,333 (GRCm39) |
P1466S |
probably benign |
Het |
Usp24 |
T |
G |
4: 106,254,508 (GRCm39) |
M1495R |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
Vmn1r16 |
A |
T |
6: 57,300,250 (GRCm39) |
I124N |
probably benign |
Het |
Vmn1r181 |
A |
G |
7: 23,684,444 (GRCm39) |
N303S |
probably benign |
Het |
Vmn1r50 |
G |
A |
6: 90,085,022 (GRCm39) |
V256I |
probably benign |
Het |
Vps54 |
A |
G |
11: 21,227,913 (GRCm39) |
N288S |
possibly damaging |
Het |
Zfp266 |
A |
T |
9: 20,416,440 (GRCm39) |
F50Y |
probably 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 |
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 |
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'- GCTGAGAGCAACTCCCTTAG -3'
(R):5'- AAGGTAGCAGTCTCTCAGTCC -3'
Sequencing Primer
(F):5'- AAAAGCCGCCGCATTGG -3'
(R):5'- AGTCAGGCAAGGTGCGC -3'
|
Posted On |
2021-12-30 |