Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00490:Adgrb2'

9186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgrb2

Ensembl Gene

ENSMUSG00000028782

Gene Name

adhesion G protein-coupled receptor B2

Synonyms

Bai2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

129984870-130022633 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130011872 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 837 (E837G)

Ref Sequence

ENSEMBL: ENSMUSP00000112524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030571] [ENSMUST00000097868] [ENSMUST00000106015] [ENSMUST00000106017] [ENSMUST00000106018] [ENSMUST00000120204] [ENSMUST00000121049]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030571
AA Change: E892G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030571
Gene: ENSMUSG00000028782
AA Change: E892G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
low complexity region	160	173	N/A	INTRINSIC
low complexity region	197	208	N/A	INTRINSIC
low complexity region	272	278	N/A	INTRINSIC
TSP1	303	353	9.52e-11	SMART
TSP1	358	408	1.86e-13	SMART
TSP1	413	463	9.89e-9	SMART
TSP1	469	519	3.09e-10	SMART
HormR	521	587	3.27e-18	SMART
Pfam:GAIN	600	842	1.6e-41	PFAM
GPS	864	917	2.57e-19	SMART
Pfam:7tm_2	923	1192	1.7e-67	PFAM
low complexity region	1357	1371	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097868
AA Change: E892G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095480
Gene: ENSMUSG00000028782
AA Change: E892G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
low complexity region	160	173	N/A	INTRINSIC
low complexity region	197	208	N/A	INTRINSIC
low complexity region	272	278	N/A	INTRINSIC
TSP1	303	353	9.52e-11	SMART
TSP1	358	408	1.86e-13	SMART
TSP1	413	463	9.89e-9	SMART
TSP1	469	519	3.09e-10	SMART
HormR	521	587	3.27e-18	SMART
Pfam:DUF3497	597	859	1.2e-54	PFAM
GPS	864	917	2.57e-19	SMART
Pfam:7tm_2	923	1159	2.6e-69	PFAM
low complexity region	1324	1338	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106012

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106015
AA Change: E892G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101636
Gene: ENSMUSG00000028782
AA Change: E892G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
low complexity region	160	173	N/A	INTRINSIC
low complexity region	197	208	N/A	INTRINSIC
low complexity region	272	278	N/A	INTRINSIC
TSP1	303	353	9.52e-11	SMART
TSP1	358	408	1.86e-13	SMART
TSP1	413	463	9.89e-9	SMART
TSP1	469	519	3.09e-10	SMART
HormR	521	587	3.27e-18	SMART
Pfam:DUF3497	597	859	6.4e-55	PFAM
GPS	864	917	2.57e-19	SMART
Pfam:7tm_2	923	1192	4.1e-68	PFAM
low complexity region	1357	1371	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106017
AA Change: E892G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101638
Gene: ENSMUSG00000028782
AA Change: E892G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
low complexity region	160	173	N/A	INTRINSIC
low complexity region	197	208	N/A	INTRINSIC
low complexity region	272	278	N/A	INTRINSIC
TSP1	303	353	9.52e-11	SMART
TSP1	358	408	1.86e-13	SMART
TSP1	413	463	9.89e-9	SMART
TSP1	469	519	3.09e-10	SMART
HormR	521	587	3.27e-18	SMART
Pfam:DUF3497	597	859	6.3e-55	PFAM
GPS	864	917	2.57e-19	SMART
Pfam:7tm_2	923	1180	4.6e-68	PFAM
low complexity region	1345	1359	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106018
AA Change: E837G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101639
Gene: ENSMUSG00000028782
AA Change: E837G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
low complexity region	160	173	N/A	INTRINSIC
low complexity region	197	208	N/A	INTRINSIC
low complexity region	272	278	N/A	INTRINSIC
TSP1	303	353	1.86e-13	SMART
TSP1	358	408	9.89e-9	SMART
TSP1	414	464	3.09e-10	SMART
HormR	466	532	3.27e-18	SMART
Pfam:DUF3497	542	804	1.1e-54	PFAM
GPS	809	862	2.57e-19	SMART
Pfam:7tm_2	868	1104	2.4e-69	PFAM
low complexity region	1269	1283	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120204
AA Change: E837G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112524
Gene: ENSMUSG00000028782
AA Change: E837G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
low complexity region	160	173	N/A	INTRINSIC
low complexity region	197	208	N/A	INTRINSIC
low complexity region	272	278	N/A	INTRINSIC
TSP1	303	353	9.52e-11	SMART
TSP1	358	408	9.89e-9	SMART
TSP1	414	464	3.09e-10	SMART
HormR	466	532	3.27e-18	SMART
Pfam:DUF3497	542	804	8.2e-55	PFAM
GPS	809	862	2.57e-19	SMART
Pfam:7tm_2	868	1104	9.6e-70	PFAM
low complexity region	1269	1283	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121049
AA Change: E837G

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112869
Gene: ENSMUSG00000028782
AA Change: E837G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
low complexity region	160	173	N/A	INTRINSIC
low complexity region	197	208	N/A	INTRINSIC
low complexity region	272	278	N/A	INTRINSIC
TSP1	303	353	1.86e-13	SMART
TSP1	358	408	9.89e-9	SMART
TSP1	414	464	3.09e-10	SMART
HormR	466	532	3.27e-18	SMART
Pfam:DUF3497	542	804	6.1e-55	PFAM
GPS	809	862	2.57e-19	SMART
Pfam:7tm_2	868	1137	3.8e-68	PFAM
low complexity region	1302	1316	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166118

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene show a lessening of depression like behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a3	A	G	16: 30,352,354	M291T	probably benign	Het
Coq8b	C	A	7: 27,257,477	H518Q	probably benign	Het
Crebrf	A	G	17: 26,743,093	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,403,314	S244T	possibly damaging	Het
Ddr2	A	T	1: 170,005,194	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,801,152	D251E	probably damaging	Het
Fam210a	G	T	18: 68,268,912	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,436,850	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,310,041	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,859,677	K335N	probably benign	Het
Loxhd1	A	T	18: 77,431,074	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,708,254	L484P	probably damaging	Het
Myt1l	T	A	12: 29,827,424	V358E	unknown	Het
Mzt1	A	G	14: 99,040,670		probably benign	Het
Nrxn2	C	A	19: 6,473,593	H514Q	possibly damaging	Het
Nup214	G	A	2: 32,033,979	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,309,916	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,001,741		probably benign	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Smcr8	T	A	11: 60,778,632		probably null	Het
Spef2	A	T	15: 9,740,535	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,155,765	P689L	probably damaging	Het
Tep1	C	A	14: 50,833,473	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,954,221	E8G	probably benign	Het
Tmem236	A	G	2: 14,219,378	Y326C	probably damaging	Het
Trip4	C	T	9: 65,833,410	G573R	probably damaging	Het
Trrap	C	T	5: 144,825,225	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 105,842,184	N435S	probably damaging	Het
Ube3a	A	G	7: 59,272,110	N77D	probably damaging	Het
Uvrag	A	T	7: 98,979,741	I373N	probably damaging	Het

Other mutations in Adgrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Adgrb2	APN	4	130018805	missense	probably damaging	1.00
IGL00425:Adgrb2	APN	4	130019072	missense	probably benign	0.09
IGL00928:Adgrb2	APN	4	129992303	missense	probably benign
IGL01353:Adgrb2	APN	4	130012300	missense	probably damaging	1.00
IGL01521:Adgrb2	APN	4	129992292	missense	probably damaging	0.98
IGL01590:Adgrb2	APN	4	130013813	splice site	probably benign
IGL01813:Adgrb2	APN	4	130012566	missense	probably benign	0.00
IGL01831:Adgrb2	APN	4	130009394	missense	probably damaging	1.00
IGL01939:Adgrb2	APN	4	129992132	missense	probably damaging	0.99
IGL01960:Adgrb2	APN	4	130012384	splice site	probably benign
IGL01993:Adgrb2	APN	4	130018842	missense	possibly damaging	0.94
IGL02646:Adgrb2	APN	4	130019282	critical splice donor site	probably null
IGL02655:Adgrb2	APN	4	129992179	nonsense	probably null
IGL02695:Adgrb2	APN	4	130018832	missense	probably damaging	1.00
IGL02998:Adgrb2	APN	4	130019069	missense	probably benign	0.15
IGL03372:Adgrb2	APN	4	130017569	missense	probably benign	0.42
R0098:Adgrb2	UTSW	4	130007831	missense	probably damaging	0.99
R0206:Adgrb2	UTSW	4	129992559	missense	probably damaging	1.00
R0311:Adgrb2	UTSW	4	130017129	missense	probably damaging	1.00
R0380:Adgrb2	UTSW	4	130007831	missense	probably damaging	0.99
R0382:Adgrb2	UTSW	4	130007831	missense	probably damaging	0.99
R0492:Adgrb2	UTSW	4	130007831	missense	probably damaging	0.99
R0544:Adgrb2	UTSW	4	130017542	missense	probably damaging	0.98
R0965:Adgrb2	UTSW	4	129992416	small deletion	probably benign
R1458:Adgrb2	UTSW	4	130014591	missense	possibly damaging	0.48
R1601:Adgrb2	UTSW	4	129992837	missense	probably benign	0.43
R1711:Adgrb2	UTSW	4	129992624	missense	probably damaging	1.00
R1758:Adgrb2	UTSW	4	130011875	missense	probably damaging	1.00
R1783:Adgrb2	UTSW	4	130009305	missense	possibly damaging	0.61
R1827:Adgrb2	UTSW	4	130012557	missense	probably damaging	1.00
R1838:Adgrb2	UTSW	4	130010231	missense	probably benign	0.00
R1881:Adgrb2	UTSW	4	130010285	missense	probably damaging	1.00
R1888:Adgrb2	UTSW	4	130013626	missense	probably damaging	1.00
R1888:Adgrb2	UTSW	4	130013626	missense	probably damaging	1.00
R1894:Adgrb2	UTSW	4	130013626	missense	probably damaging	1.00
R2275:Adgrb2	UTSW	4	130006854	missense	probably damaging	1.00
R2926:Adgrb2	UTSW	4	130008344	missense	probably damaging	1.00
R4472:Adgrb2	UTSW	4	130008353	missense	probably benign	0.12
R4490:Adgrb2	UTSW	4	130012328	missense	possibly damaging	0.91
R4499:Adgrb2	UTSW	4	129992661	missense	probably damaging	0.99
R4758:Adgrb2	UTSW	4	130009350	missense	probably damaging	1.00
R4900:Adgrb2	UTSW	4	130013875	missense	probably damaging	1.00
R4904:Adgrb2	UTSW	4	130012539	missense	possibly damaging	0.50
R4922:Adgrb2	UTSW	4	130007852	missense	probably damaging	1.00
R5330:Adgrb2	UTSW	4	130022202	missense	possibly damaging	0.92
R5331:Adgrb2	UTSW	4	130022202	missense	possibly damaging	0.92
R5550:Adgrb2	UTSW	4	130014934	critical splice acceptor site	probably null
R5995:Adgrb2	UTSW	4	130017103	missense	probably damaging	1.00
R6047:Adgrb2	UTSW	4	130018705	missense	probably damaging	1.00
R6534:Adgrb2	UTSW	4	130022219	missense	probably damaging	0.98
R6565:Adgrb2	UTSW	4	130019276	missense	probably damaging	1.00
R6813:Adgrb2	UTSW	4	130009491	missense	probably damaging	1.00
R6963:Adgrb2	UTSW	4	130014362	frame shift	probably null
R6966:Adgrb2	UTSW	4	130014362	frame shift	probably null
R7197:Adgrb2	UTSW	4	130009522	missense	probably damaging	1.00
R7409:Adgrb2	UTSW	4	130019069	missense	probably benign	0.15
R7451:Adgrb2	UTSW	4	130014557	missense	probably damaging	1.00
R7453:Adgrb2	UTSW	4	130014637	critical splice donor site	probably null
R7461:Adgrb2	UTSW	4	130021213	critical splice acceptor site	probably benign
R7511:Adgrb2	UTSW	4	130022111	missense	probably benign
R7613:Adgrb2	UTSW	4	130021213	critical splice acceptor site	probably benign
R7729:Adgrb2	UTSW	4	129992124	missense	probably benign	0.09
R7818:Adgrb2	UTSW	4	130014560	missense	probably damaging	0.98
R7818:Adgrb2	UTSW	4	130014969	missense	possibly damaging	0.70
R8033:Adgrb2	UTSW	4	130019012	missense	probably benign
R8039:Adgrb2	UTSW	4	130022268	missense	probably damaging	0.99
R8097:Adgrb2	UTSW	4	130007897	missense	probably damaging	1.00
R8256:Adgrb2	UTSW	4	130008128	missense	probably damaging	0.96
R8425:Adgrb2	UTSW	4	130005057	missense	possibly damaging	0.72
RF020:Adgrb2	UTSW	4	130010084	missense	probably damaging	1.00
Z1176:Adgrb2	UTSW	4	130017563	missense	probably damaging	1.00
Z1177:Adgrb2	UTSW	4	130011826	missense	probably damaging	0.99
Z1177:Adgrb2	UTSW	4	130019119	missense	probably damaging	0.98

Posted On

2012-12-06