Mutagenetix > Incidental Mutation

Incidental Mutation 'R4412:Adgrb1'

327987

Institutional Source

Beutler Lab

Gene Symbol

Adgrb1

Ensembl Gene

ENSMUSG00000034730

Gene Name

adhesion G protein-coupled receptor B1

Synonyms

Bai1, B830018M07Rik

MMRRC Submission

041135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74516195-74589465 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 74577453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042035] [ENSMUST00000170845] [ENSMUST00000185682] [ENSMUST00000186360] [ENSMUST00000187485] [ENSMUST00000187599] [ENSMUST00000189353]

AlphaFold

Q3UHD1

Predicted Effect

probably benign
Transcript: ENSMUST00000042035

SMART Domains

Protein: ENSMUSP00000046097
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	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

probably benign
Transcript: ENSMUST00000170845

SMART Domains

Protein: ENSMUSP00000127122
Gene: ENSMUSG00000034730

Domain	Start	End	E-Value	Type
Pfam:7tm_2	4	240	1.9e-67	PFAM
SCOP:d1jvr__	456	492	1e-3	SMART
low complexity region	501	515	N/A	INTRINSIC
low complexity region	605	616	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185682

SMART Domains

Protein: ENSMUSP00000139428
Gene: ENSMUSG00000034730

Domain	Start	End	E-Value	Type
Pfam:7tm_2	4	240	1.9e-67	PFAM
SCOP:d1jvr__	456	492	1e-3	SMART
low complexity region	501	515	N/A	INTRINSIC
low complexity region	605	616	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186095

Predicted Effect

probably benign
Transcript: ENSMUST00000186360

SMART Domains

Protein: ENSMUSP00000140362
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
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

Predicted Effect

probably benign
Transcript: ENSMUST00000187599

SMART Domains

Protein: ENSMUSP00000140831
Gene: ENSMUSG00000034730

Domain	Start	End	E-Value	Type
Pfam:7tm_2	4	135	6.4e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187639

Predicted Effect

probably benign
Transcript: ENSMUST00000189353

SMART Domains

Protein: ENSMUSP00000140889
Gene: ENSMUSG00000034730

Domain	Start	End	E-Value	Type
Pfam:7tm_2	4	147	3.5e-39	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,246,114 (GRCm38)	K144E	probably benign	Het
Alpl	A	G	4: 137,758,628 (GRCm38)	I2T	possibly damaging	Het
Chdh	G	T	14: 30,031,715 (GRCm38)	G194C	probably damaging	Het
Cp	A	T	3: 19,966,353 (GRCm38)	D170V	probably damaging	Het
Cpne9	A	G	6: 113,290,001 (GRCm38)	K132E	possibly damaging	Het
Cyp2b9	T	G	7: 26,198,443 (GRCm38)	L224R	probably damaging	Het
Dmxl1	A	G	18: 49,848,761 (GRCm38)	N153S	probably benign	Het
Dnah17	T	C	11: 118,073,683 (GRCm38)	Y2423C	probably damaging	Het
Dnajc14	G	T	10: 128,806,205 (GRCm38)		probably benign	Het
Eipr1	A	T	12: 28,859,373 (GRCm38)	D213V	probably damaging	Het
Fat1	T	C	8: 45,023,599 (GRCm38)	V1894A	probably damaging	Het
Flrt2	G	A	12: 95,780,273 (GRCm38)	V462I	probably benign	Het
Gigyf2	A	G	1: 87,436,860 (GRCm38)	E954G	probably damaging	Het
Glis1	A	G	4: 107,634,718 (GRCm38)	H593R	probably damaging	Het
Gpr21	C	G	2: 37,517,432 (GRCm38)		probably benign	Het
Gsdmc3	A	G	15: 63,866,796 (GRCm38)	M139T	probably benign	Het
Hydin	C	T	8: 110,415,736 (GRCm38)	T749I	probably damaging	Het
Ilf3	C	T	9: 21,399,560 (GRCm38)	P620S	possibly damaging	Het
Khdc3	A	G	9: 73,102,874 (GRCm38)	T71A	possibly damaging	Het
Ms4a12	T	C	19: 11,230,443 (GRCm38)	N33S	probably benign	Het
Nisch	A	G	14: 31,186,658 (GRCm38)		probably benign	Het
Npr2	G	A	4: 43,644,150 (GRCm38)	C593Y	probably damaging	Het
Npr3	G	C	15: 11,905,149 (GRCm38)	T164R	probably benign	Het
Or4c1	A	G	2: 89,303,340 (GRCm38)	I84T	probably benign	Het
Palld	A	G	8: 61,687,372 (GRCm38)	Y534H	probably damaging	Het
Pcdhb10	TC	T	18: 37,414,141 (GRCm38)		probably null	Het
Plekhg3	A	C	12: 76,577,764 (GRCm38)	T1127P	probably damaging	Het
Podnl1	A	T	8: 84,130,665 (GRCm38)	H301L	probably benign	Het
Ripk2	A	G	4: 16,124,511 (GRCm38)	V399A	probably benign	Het
Rpp30	T	A	19: 36,100,255 (GRCm38)	N172K	possibly damaging	Het
Sin3b	C	T	8: 72,739,779 (GRCm38)	A291V	probably benign	Het
Slc12a6	A	T	2: 112,335,888 (GRCm38)	Q204L	possibly damaging	Het
Snx9	C	T	17: 5,908,394 (GRCm38)	T249M	probably damaging	Het
Sohlh2	C	A	3: 55,197,002 (GRCm38)	T264K	probably damaging	Het
Srrm2	A	G	17: 23,810,468 (GRCm38)		probably benign	Het
Syne2	T	A	12: 76,106,060 (GRCm38)	H6674Q	probably benign	Het
Tyw1	T	A	5: 130,335,232 (GRCm38)		probably null	Het
Vmn1r115	C	T	7: 20,844,282 (GRCm38)	R235K	probably benign	Het
Vmn2r50	A	C	7: 10,050,308 (GRCm38)	F80V	probably damaging	Het
Yme1l1	G	A	2: 23,175,187 (GRCm38)	R236H	probably damaging	Het

Other mutations in Adgrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Adgrb1	APN	15	74,586,835 (GRCm38)	missense	probably damaging	1.00
IGL01748:Adgrb1	APN	15	74,548,357 (GRCm38)	splice site	probably benign
IGL01874:Adgrb1	APN	15	74,541,574 (GRCm38)	missense	possibly damaging	0.95
IGL02040:Adgrb1	APN	15	74,541,575 (GRCm38)	missense	possibly damaging	0.91
IGL02138:Adgrb1	APN	15	74,529,782 (GRCm38)	missense	probably damaging	1.00
IGL02149:Adgrb1	APN	15	74,540,477 (GRCm38)	missense	probably damaging	1.00
IGL02320:Adgrb1	APN	15	74,574,112 (GRCm38)	missense	probably damaging	1.00
IGL02556:Adgrb1	APN	15	74,586,805 (GRCm38)	missense	probably damaging	0.99
IGL02637:Adgrb1	APN	15	74,588,294 (GRCm38)	splice site	probably benign
IGL02678:Adgrb1	APN	15	74,538,328 (GRCm38)	missense	probably damaging	0.99
IGL02792:Adgrb1	APN	15	74,547,622 (GRCm38)	missense	probably damaging	0.98
Bunting	UTSW	15	74,543,701 (GRCm38)	missense	probably null	0.94
BB005:Adgrb1	UTSW	15	74,538,321 (GRCm38)	missense	probably damaging	1.00
BB015:Adgrb1	UTSW	15	74,538,321 (GRCm38)	missense	probably damaging	1.00
PIT4520001:Adgrb1	UTSW	15	74,541,659 (GRCm38)	missense	probably damaging	0.99
R0193:Adgrb1	UTSW	15	74,572,156 (GRCm38)	missense	probably damaging	1.00
R0208:Adgrb1	UTSW	15	74,586,807 (GRCm38)	missense	probably benign
R0267:Adgrb1	UTSW	15	74,529,389 (GRCm38)	missense	probably damaging	1.00
R0336:Adgrb1	UTSW	15	74,587,149 (GRCm38)	missense	probably benign	0.06
R0345:Adgrb1	UTSW	15	74,543,349 (GRCm38)	missense	probably damaging	0.97
R0533:Adgrb1	UTSW	15	74,541,559 (GRCm38)	missense	probably damaging	1.00
R0635:Adgrb1	UTSW	15	74,540,892 (GRCm38)	missense	possibly damaging	0.88
R0729:Adgrb1	UTSW	15	74,548,549 (GRCm38)	missense	probably damaging	1.00
R0792:Adgrb1	UTSW	15	74,580,617 (GRCm38)	missense	probably damaging	1.00
R1122:Adgrb1	UTSW	15	74,547,685 (GRCm38)	missense	probably damaging	0.99
R1295:Adgrb1	UTSW	15	74,550,039 (GRCm38)	missense	probably damaging	1.00
R1522:Adgrb1	UTSW	15	74,580,617 (GRCm38)	missense	probably damaging	1.00
R1696:Adgrb1	UTSW	15	74,588,107 (GRCm38)	missense	probably damaging	1.00
R1707:Adgrb1	UTSW	15	74,529,343 (GRCm38)	missense	probably damaging	0.99
R1750:Adgrb1	UTSW	15	74,541,827 (GRCm38)	missense	probably benign	0.23
R1804:Adgrb1	UTSW	15	74,529,540 (GRCm38)	missense	probably damaging	1.00
R1829:Adgrb1	UTSW	15	74,580,586 (GRCm38)	nonsense	probably null
R1895:Adgrb1	UTSW	15	74,540,465 (GRCm38)	missense	probably damaging	1.00
R1970:Adgrb1	UTSW	15	74,539,877 (GRCm38)	splice site	probably benign
R2114:Adgrb1	UTSW	15	74,540,562 (GRCm38)	critical splice donor site	probably null
R2133:Adgrb1	UTSW	15	74,529,908 (GRCm38)	missense	probably damaging	1.00
R2210:Adgrb1	UTSW	15	74,547,704 (GRCm38)	missense	probably damaging	1.00
R3701:Adgrb1	UTSW	15	74,545,015 (GRCm38)	missense	probably damaging	0.99
R3770:Adgrb1	UTSW	15	74,588,308 (GRCm38)	missense	probably damaging	1.00
R3980:Adgrb1	UTSW	15	74,582,943 (GRCm38)	missense	probably damaging	1.00
R4355:Adgrb1	UTSW	15	74,543,662 (GRCm38)	missense	probably damaging	1.00
R4634:Adgrb1	UTSW	15	74,584,429 (GRCm38)	utr 3 prime	probably benign
R4683:Adgrb1	UTSW	15	74,588,114 (GRCm38)	missense	probably damaging	1.00
R4742:Adgrb1	UTSW	15	74,529,479 (GRCm38)	nonsense	probably null
R4760:Adgrb1	UTSW	15	74,571,463 (GRCm38)	missense	probably damaging	1.00
R4794:Adgrb1	UTSW	15	74,588,129 (GRCm38)	missense	probably damaging	1.00
R4880:Adgrb1	UTSW	15	74,587,022 (GRCm38)	missense	possibly damaging	0.85
R4885:Adgrb1	UTSW	15	74,572,162 (GRCm38)	missense	probably benign	0.04
R5092:Adgrb1	UTSW	15	74,529,815 (GRCm38)	missense	probably benign	0.39
R5198:Adgrb1	UTSW	15	74,543,701 (GRCm38)	missense	probably null	0.94
R5225:Adgrb1	UTSW	15	74,577,499 (GRCm38)	unclassified	probably benign
R5421:Adgrb1	UTSW	15	74,550,027 (GRCm38)	missense	probably damaging	1.00
R5764:Adgrb1	UTSW	15	74,541,574 (GRCm38)	missense	possibly damaging	0.95
R5914:Adgrb1	UTSW	15	74,538,370 (GRCm38)	missense	possibly damaging	0.54
R6035:Adgrb1	UTSW	15	74,540,443 (GRCm38)	missense	possibly damaging	0.50
R6035:Adgrb1	UTSW	15	74,540,443 (GRCm38)	missense	possibly damaging	0.50
R6066:Adgrb1	UTSW	15	74,540,459 (GRCm38)	missense	probably damaging	0.99
R6423:Adgrb1	UTSW	15	74,588,143 (GRCm38)	critical splice donor site	probably null
R6811:Adgrb1	UTSW	15	74,529,361 (GRCm38)	missense	probably damaging	1.00
R6945:Adgrb1	UTSW	15	74,550,024 (GRCm38)	missense	probably damaging	0.99
R7012:Adgrb1	UTSW	15	74,529,901 (GRCm38)	missense	probably damaging	0.97
R7015:Adgrb1	UTSW	15	74,574,110 (GRCm38)	missense	probably damaging	1.00
R7061:Adgrb1	UTSW	15	74,569,881 (GRCm38)	missense	probably benign	0.00
R7209:Adgrb1	UTSW	15	74,569,948 (GRCm38)	missense	possibly damaging	0.85
R7213:Adgrb1	UTSW	15	74,569,884 (GRCm38)	missense	probably benign
R7283:Adgrb1	UTSW	15	74,580,663 (GRCm38)	missense	possibly damaging	0.94
R7329:Adgrb1	UTSW	15	74,539,245 (GRCm38)	missense	probably damaging	0.99
R7616:Adgrb1	UTSW	15	74,548,569 (GRCm38)	missense	probably damaging	0.98
R7695:Adgrb1	UTSW	15	74,543,638 (GRCm38)	missense	possibly damaging	0.95
R7928:Adgrb1	UTSW	15	74,538,321 (GRCm38)	missense	probably damaging	1.00
R8152:Adgrb1	UTSW	15	74,545,000 (GRCm38)	missense	probably damaging	0.98
R8152:Adgrb1	UTSW	15	74,541,611 (GRCm38)	missense	probably benign	0.00
R8198:Adgrb1	UTSW	15	74,539,245 (GRCm38)	missense	probably damaging	0.99
R8485:Adgrb1	UTSW	15	74,548,304 (GRCm38)	missense	probably damaging	1.00
R8528:Adgrb1	UTSW	15	74,575,851 (GRCm38)	missense	possibly damaging	0.51
R8534:Adgrb1	UTSW	15	74,543,508 (GRCm38)	missense	probably damaging	0.97
R8865:Adgrb1	UTSW	15	74,543,658 (GRCm38)	missense	possibly damaging	0.75
R9044:Adgrb1	UTSW	15	74,569,899 (GRCm38)	missense	possibly damaging	0.95
R9098:Adgrb1	UTSW	15	74,543,340 (GRCm38)	missense	probably damaging	1.00
R9157:Adgrb1	UTSW	15	74,539,775 (GRCm38)	missense	probably damaging	0.98
R9166:Adgrb1	UTSW	15	74,548,626 (GRCm38)	missense	probably benign	0.00
R9313:Adgrb1	UTSW	15	74,539,775 (GRCm38)	missense	probably damaging	0.98
R9445:Adgrb1	UTSW	15	74,563,958 (GRCm38)	critical splice acceptor site	probably benign
Z1177:Adgrb1	UTSW	15	74,547,683 (GRCm38)	missense	probably damaging	0.99
Z1177:Adgrb1	UTSW	15	74,541,676 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCATGCTGTCTGTCAGTC -3'
(R):5'- TCTTGAATTGGGAAAGGCAAGCC -3'

Sequencing Primer
(F):5'- CTGTCTGTCAGTCAGCAGCTG -3'
(R):5'- TGGGTAGAGGTCAGGGCC -3'

Posted On

2015-07-07