Incidental Mutation 'R7695:Adgrb1'
| ID |
593626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrb1
|
| Ensembl Gene |
ENSMUSG00000034730 |
| Gene Name |
adhesion G protein-coupled receptor B1 |
| Synonyms |
B830018M07Rik, Bai1 |
| MMRRC Submission |
045758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7695 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
74388045-74461314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74415487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 689
(V689A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042035]
[ENSMUST00000186360]
[ENSMUST00000187485]
|
| AlphaFold |
Q3UHD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042035
AA Change: V689A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: V689A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
160 |
N/A |
INTRINSIC |
|
TSP1
|
264 |
315 |
4.69e-10 |
SMART |
|
low complexity region
|
319 |
329 |
N/A |
INTRINSIC |
|
TSP1
|
357 |
407 |
3.5e-9 |
SMART |
|
TSP1
|
412 |
462 |
3.16e-16 |
SMART |
|
TSP1
|
470 |
520 |
7.15e-15 |
SMART |
|
TSP1
|
525 |
575 |
3.11e-15 |
SMART |
|
HormR
|
577 |
643 |
2.55e-20 |
SMART |
|
Pfam:GAIN
|
656 |
859 |
1e-46 |
PFAM |
|
GPS
|
880 |
938 |
1.46e-18 |
SMART |
|
Pfam:7tm_2
|
944 |
1180 |
3.3e-66 |
PFAM |
|
SCOP:d1jvr__
|
1396 |
1432 |
5e-4 |
SMART |
|
low complexity region
|
1441 |
1455 |
N/A |
INTRINSIC |
|
low complexity region
|
1545 |
1556 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186360
AA Change: V689A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730
AA Change: V689A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
160 |
N/A |
INTRINSIC |
|
TSP1
|
264 |
315 |
2.2e-12 |
SMART |
|
low complexity region
|
319 |
329 |
N/A |
INTRINSIC |
|
TSP1
|
357 |
407 |
1.7e-11 |
SMART |
|
TSP1
|
412 |
462 |
1.5e-18 |
SMART |
|
TSP1
|
470 |
520 |
3.4e-17 |
SMART |
|
TSP1
|
525 |
575 |
1.5e-17 |
SMART |
|
HormR
|
577 |
643 |
1.6e-22 |
SMART |
|
Pfam:DUF3497
|
653 |
874 |
1.2e-44 |
PFAM |
|
GPS
|
880 |
938 |
8.9e-21 |
SMART |
|
Pfam:7tm_2
|
944 |
1106 |
9.6e-43 |
PFAM |
|
low complexity region
|
1113 |
1143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187485
|
| SMART Domains |
Protein: ENSMUSP00000140959
Gene: ENSMUSG00000034730
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
160 |
N/A |
INTRINSIC |
|
TSP1
|
264 |
315 |
2.2e-12 |
SMART |
|
low complexity region
|
319 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
386 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp12 |
A |
G |
9: 5,353,641 (GRCm39) |
E225G |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,868,668 (GRCm39) |
L806P |
probably damaging |
Het |
| Ccnd3 |
T |
A |
17: 47,908,421 (GRCm39) |
I164N |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,976,005 (GRCm39) |
V52A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,310,069 (GRCm39) |
R1554W |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,497,260 (GRCm39) |
I239N |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,683,777 (GRCm39) |
V948D |
|
Het |
| Dnmt1 |
C |
A |
9: 20,825,281 (GRCm39) |
G1061V |
probably null |
Het |
| Dpysl4 |
A |
G |
7: 138,666,039 (GRCm39) |
M1V |
probably null |
Het |
| Elp5 |
T |
C |
11: 69,860,327 (GRCm39) |
T227A |
probably benign |
Het |
| Exosc1 |
G |
A |
19: 41,916,519 (GRCm39) |
H86Y |
possibly damaging |
Het |
| Foxn4 |
G |
T |
5: 114,394,648 (GRCm39) |
D426E |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,875,687 (GRCm39) |
L145P |
probably damaging |
Het |
| Gkn3 |
A |
G |
6: 87,361,422 (GRCm39) |
Y126H |
probably damaging |
Het |
| Gm16506 |
A |
G |
14: 43,962,463 (GRCm39) |
F148S |
|
Het |
| Gm3558 |
A |
G |
14: 19,121,623 (GRCm39) |
I76T |
probably benign |
Het |
| Gm49359 |
A |
G |
13: 62,604,558 (GRCm39) |
F45S |
possibly damaging |
Het |
| Gpc5 |
A |
T |
14: 115,330,026 (GRCm39) |
H63L |
unknown |
Het |
| H2bl1 |
T |
C |
13: 99,120,766 (GRCm39) |
T87A |
probably damaging |
Het |
| Hbs1l |
A |
T |
10: 21,175,116 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ide |
G |
A |
19: 37,306,435 (GRCm39) |
H113Y |
|
Het |
| Igkv3-3 |
A |
T |
6: 70,664,295 (GRCm39) |
S46C |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,233,612 (GRCm39) |
V1707D |
probably damaging |
Het |
| Kcna5 |
A |
T |
6: 126,511,174 (GRCm39) |
V318E |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,927,612 (GRCm39) |
F158S |
possibly damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,297 (GRCm39) |
D261V |
possibly damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,646,769 (GRCm39) |
I485F |
probably damaging |
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Mast1 |
A |
G |
8: 85,647,557 (GRCm39) |
V560A |
probably damaging |
Het |
| Mfap4 |
A |
T |
11: 61,376,545 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,650,936 (GRCm39) |
I1637T |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,810,212 (GRCm39) |
F1080I |
possibly damaging |
Het |
| Or1e17 |
T |
A |
11: 73,831,720 (GRCm39) |
V216E |
possibly damaging |
Het |
| Or4k48 |
A |
G |
2: 111,475,970 (GRCm39) |
V124A |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,207 (GRCm39) |
V245A |
probably benign |
Het |
| Or51a25 |
T |
C |
7: 102,372,866 (GRCm39) |
H277R |
probably benign |
Het |
| Pax2 |
A |
G |
19: 44,821,638 (GRCm39) |
Y318C |
probably damaging |
Het |
| Pcnx4 |
A |
T |
12: 72,588,350 (GRCm39) |
M53L |
probably benign |
Het |
| Pkd2l2 |
T |
A |
18: 34,561,298 (GRCm39) |
D435E |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,068,055 (GRCm39) |
Q1117* |
probably null |
Het |
| Ppp2r2c |
T |
C |
5: 37,104,526 (GRCm39) |
L302P |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,232,497 (GRCm39) |
F855L |
probably benign |
Het |
| Reg3d |
A |
T |
6: 78,354,119 (GRCm39) |
W103R |
probably benign |
Het |
| Rnf216 |
A |
C |
5: 143,071,659 (GRCm39) |
H440Q |
possibly damaging |
Het |
| Scn2a |
A |
G |
2: 65,542,251 (GRCm39) |
T785A |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,256,270 (GRCm39) |
Y844F |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spp1 |
T |
C |
5: 104,583,009 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,330,633 (GRCm39) |
S196T |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,073,891 (GRCm39) |
S285L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,666,305 (GRCm39) |
R11584* |
probably null |
Het |
| Ubap2 |
A |
G |
4: 41,211,740 (GRCm39) |
S341P |
probably damaging |
Het |
| Upf3a |
T |
G |
8: 13,848,279 (GRCm39) |
S358R |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,346,529 (GRCm39) |
I1636N |
possibly damaging |
Het |
| Zfp946 |
C |
A |
17: 22,674,002 (GRCm39) |
T252N |
probably benign |
Het |
|
| Other mutations in Adgrb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01525:Adgrb1
|
APN |
15 |
74,458,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01748:Adgrb1
|
APN |
15 |
74,420,206 (GRCm39) |
splice site |
probably benign |
|
|
IGL01874:Adgrb1
|
APN |
15 |
74,413,423 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02040:Adgrb1
|
APN |
15 |
74,413,424 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02138:Adgrb1
|
APN |
15 |
74,401,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02149:Adgrb1
|
APN |
15 |
74,412,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Adgrb1
|
APN |
15 |
74,445,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Adgrb1
|
APN |
15 |
74,458,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02637:Adgrb1
|
APN |
15 |
74,460,143 (GRCm39) |
splice site |
probably benign |
|
|
IGL02678:Adgrb1
|
APN |
15 |
74,410,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02792:Adgrb1
|
APN |
15 |
74,419,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Bunting
|
UTSW |
15 |
74,415,550 (GRCm39) |
missense |
probably null |
0.94 |
|
BB005:Adgrb1
|
UTSW |
15 |
74,410,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB015:Adgrb1
|
UTSW |
15 |
74,410,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Adgrb1
|
UTSW |
15 |
74,413,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0193:Adgrb1
|
UTSW |
15 |
74,444,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Adgrb1
|
UTSW |
15 |
74,458,656 (GRCm39) |
missense |
probably benign |
|
|
R0267:Adgrb1
|
UTSW |
15 |
74,401,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Adgrb1
|
UTSW |
15 |
74,458,998 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0345:Adgrb1
|
UTSW |
15 |
74,415,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0533:Adgrb1
|
UTSW |
15 |
74,413,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Adgrb1
|
UTSW |
15 |
74,412,741 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0729:Adgrb1
|
UTSW |
15 |
74,420,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Adgrb1
|
UTSW |
15 |
74,452,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1122:Adgrb1
|
UTSW |
15 |
74,419,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1295:Adgrb1
|
UTSW |
15 |
74,421,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Adgrb1
|
UTSW |
15 |
74,452,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Adgrb1
|
UTSW |
15 |
74,459,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Adgrb1
|
UTSW |
15 |
74,401,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1750:Adgrb1
|
UTSW |
15 |
74,413,676 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1804:Adgrb1
|
UTSW |
15 |
74,401,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Adgrb1
|
UTSW |
15 |
74,452,435 (GRCm39) |
nonsense |
probably null |
|
|
R1895:Adgrb1
|
UTSW |
15 |
74,412,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Adgrb1
|
UTSW |
15 |
74,411,726 (GRCm39) |
splice site |
probably benign |
|
|
R2114:Adgrb1
|
UTSW |
15 |
74,412,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2133:Adgrb1
|
UTSW |
15 |
74,401,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2210:Adgrb1
|
UTSW |
15 |
74,419,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3701:Adgrb1
|
UTSW |
15 |
74,416,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3770:Adgrb1
|
UTSW |
15 |
74,460,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Adgrb1
|
UTSW |
15 |
74,454,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Adgrb1
|
UTSW |
15 |
74,415,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4412:Adgrb1
|
UTSW |
15 |
74,449,302 (GRCm39) |
unclassified |
probably benign |
|
|
R4634:Adgrb1
|
UTSW |
15 |
74,456,278 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4683:Adgrb1
|
UTSW |
15 |
74,459,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4742:Adgrb1
|
UTSW |
15 |
74,401,328 (GRCm39) |
nonsense |
probably null |
|
|
R4760:Adgrb1
|
UTSW |
15 |
74,443,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:Adgrb1
|
UTSW |
15 |
74,459,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Adgrb1
|
UTSW |
15 |
74,458,871 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4885:Adgrb1
|
UTSW |
15 |
74,444,011 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5092:Adgrb1
|
UTSW |
15 |
74,401,664 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5198:Adgrb1
|
UTSW |
15 |
74,415,550 (GRCm39) |
missense |
probably null |
0.94 |
|
R5225:Adgrb1
|
UTSW |
15 |
74,449,348 (GRCm39) |
unclassified |
probably benign |
|
|
R5421:Adgrb1
|
UTSW |
15 |
74,421,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5764:Adgrb1
|
UTSW |
15 |
74,413,423 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5914:Adgrb1
|
UTSW |
15 |
74,410,219 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6035:Adgrb1
|
UTSW |
15 |
74,412,292 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6035:Adgrb1
|
UTSW |
15 |
74,412,292 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6066:Adgrb1
|
UTSW |
15 |
74,412,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6423:Adgrb1
|
UTSW |
15 |
74,459,992 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6811:Adgrb1
|
UTSW |
15 |
74,401,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6945:Adgrb1
|
UTSW |
15 |
74,421,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7012:Adgrb1
|
UTSW |
15 |
74,401,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7015:Adgrb1
|
UTSW |
15 |
74,445,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Adgrb1
|
UTSW |
15 |
74,441,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7209:Adgrb1
|
UTSW |
15 |
74,441,797 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7213:Adgrb1
|
UTSW |
15 |
74,441,733 (GRCm39) |
missense |
probably benign |
|
|
R7283:Adgrb1
|
UTSW |
15 |
74,452,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7329:Adgrb1
|
UTSW |
15 |
74,411,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7616:Adgrb1
|
UTSW |
15 |
74,420,418 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7928:Adgrb1
|
UTSW |
15 |
74,410,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Adgrb1
|
UTSW |
15 |
74,416,849 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8152:Adgrb1
|
UTSW |
15 |
74,413,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8198:Adgrb1
|
UTSW |
15 |
74,411,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8485:Adgrb1
|
UTSW |
15 |
74,420,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8528:Adgrb1
|
UTSW |
15 |
74,447,700 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8534:Adgrb1
|
UTSW |
15 |
74,415,357 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8865:Adgrb1
|
UTSW |
15 |
74,415,507 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9044:Adgrb1
|
UTSW |
15 |
74,441,748 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9098:Adgrb1
|
UTSW |
15 |
74,415,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Adgrb1
|
UTSW |
15 |
74,411,624 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9166:Adgrb1
|
UTSW |
15 |
74,420,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9313:Adgrb1
|
UTSW |
15 |
74,411,624 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9445:Adgrb1
|
UTSW |
15 |
74,435,807 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1177:Adgrb1
|
UTSW |
15 |
74,419,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Adgrb1
|
UTSW |
15 |
74,413,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGGAACCTCCATGCATTG -3'
(R):5'- ATGTGGTCACAGCCCAGTTC -3'
Sequencing Primer
(F):5'- CATGCATTGGAGGTCCCTG -3'
(R):5'- AGTTCACACTCAGCATTGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation