Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01993:Adgrb2'

182079

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 #

IGL01993

Quality Score

Status

Chromosome

Chromosomal Location

129984870-130022633 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 130018842 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1296 (E1296D)

Ref Sequence

ENSEMBL: ENSMUSP00000101638 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030571
AA Change: E1308D

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030571
Gene: ENSMUSG00000028782
AA Change: E1308D

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

probably benign
Transcript: ENSMUST00000097868
AA Change: E1275D

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095480
Gene: ENSMUSG00000028782
AA Change: E1275D

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

probably benign
Transcript: ENSMUST00000106015
AA Change: E1308D

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101636
Gene: ENSMUSG00000028782
AA Change: E1308D

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: E1296D

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101638
Gene: ENSMUSG00000028782
AA Change: E1296D

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

probably benign
Transcript: ENSMUST00000106018
AA Change: E1220D

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101639
Gene: ENSMUSG00000028782
AA Change: E1220D

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

probably benign
Transcript: ENSMUST00000120204
AA Change: E1220D

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112524
Gene: ENSMUSG00000028782
AA Change: E1220D

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

probably benign
Transcript: ENSMUST00000121049
AA Change: E1253D

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112869
Gene: ENSMUSG00000028782
AA Change: E1253D

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: ENSMUST00000136787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163625

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,258,452		probably benign	Het
Acnat2	A	T	4: 49,380,131	S398T	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Anapc2	C	A	2: 25,274,713	D322E	probably benign	Het
Apobec1	A	G	6: 122,588,179		probably benign	Het
Asic1	T	C	15: 99,697,472	V393A	probably benign	Het
Cfap65	A	C	1: 74,920,543	F816C	probably damaging	Het
Cfap69	A	C	5: 5,581,284	L914R	probably damaging	Het
Cspg4	C	T	9: 56,898,478	T2191I	probably benign	Het
Cyp11a1	T	A	9: 58,020,823	I210N	probably damaging	Het
Dgkb	T	A	12: 37,982,010	Y24N	probably benign	Het
Epc1	T	C	18: 6,449,136	T504A	possibly damaging	Het
Fam135a	A	T	1: 24,055,911	D125E	probably damaging	Het
Fam192a	G	T	8: 94,575,752	A217D	possibly damaging	Het
Fgd3	T	C	13: 49,280,188	H345R	possibly damaging	Het
Gm11492	G	T	11: 87,567,729	G310W	possibly damaging	Het
Gm12253	T	C	11: 58,434,553	V17A	probably damaging	Het
Hars	C	T	18: 36,770,212	G355D	probably damaging	Het
Hpgd	A	T	8: 56,319,062	I190F	probably benign	Het
Ighv1-34	A	T	12: 114,851,383	M53K	probably benign	Het
Ildr2	A	T	1: 166,269,370	T53S	possibly damaging	Het
Ints5	T	A	19: 8,895,465	C263S	probably benign	Het
Lars2	T	C	9: 123,394,943		probably benign	Het
Ldha	G	A	7: 46,855,100	A349T	possibly damaging	Het
Map3k2	T	A	18: 32,226,631	C512*	probably null	Het
Mb21d1	A	G	9: 78,442,520	S187P	probably benign	Het
Parp4	G	A	14: 56,610,788	R687Q	possibly damaging	Het
Plk2	T	C	13: 110,399,197	S518P	probably damaging	Het
Prrc2b	T	G	2: 32,224,045	V2036G	possibly damaging	Het
Psg16	T	A	7: 17,093,706	S196T	probably benign	Het
Ranbp17	T	C	11: 33,500,770	T56A	possibly damaging	Het
Retsat	T	C	6: 72,604,995		probably benign	Het
Robo3	G	T	9: 37,424,653	L484I	probably damaging	Het
Slc17a6	T	C	7: 51,667,957	M446T	possibly damaging	Het
Slc38a1	G	A	15: 96,624,046	T11M	probably damaging	Het
Tmem138	T	C	19: 10,571,588	N106S	probably benign	Het
Traf1	G	A	2: 34,946,867		probably benign	Het
Tspan8	T	C	10: 115,840,008		probably benign	Het
Ubr5	T	C	15: 37,973,012	E2615G	probably damaging	Het
Vwde	A	G	6: 13,219,978	I58T	possibly damaging	Het
Zc3h12c	A	G	9: 52,116,311	S603P	probably damaging	Het
Zfp746	A	T	6: 48,082,158	S172R	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
IGL00490:Adgrb2	APN	4	130011872	missense	possibly damaging	0.82
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
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

Posted On

2014-05-07