Mutagenetix > Incidental Mutation

Incidental Mutation 'R4499:Adgrb2'

331744

Institutional Source

Beutler Lab

Gene Symbol

Adgrb2

Ensembl Gene

ENSMUSG00000028782

Gene Name

adhesion G protein-coupled receptor B2

Synonyms

Bai2

MMRRC Submission

041752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4499 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

129878663-129916426 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129886454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 198 (E198V)

Ref Sequence

ENSEMBL: ENSMUSP00000101639 (fasta)

Gene Model

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

AlphaFold

Q8CGM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030571
AA Change: E198V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030571
Gene: ENSMUSG00000028782
AA Change: E198V

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 damaging
Transcript: ENSMUST00000097868
AA Change: E198V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095480
Gene: ENSMUSG00000028782
AA Change: E198V

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 damaging
Transcript: ENSMUST00000106015
AA Change: E198V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101636
Gene: ENSMUSG00000028782
AA Change: E198V

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

probably damaging
Transcript: ENSMUST00000106017
AA Change: E198V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101638
Gene: ENSMUSG00000028782
AA Change: E198V

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 damaging
Transcript: ENSMUST00000106018
AA Change: E198V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101639
Gene: ENSMUSG00000028782
AA Change: E198V

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: E198V

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112524
Gene: ENSMUSG00000028782
AA Change: E198V

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 damaging
Transcript: ENSMUST00000121049
AA Change: E198V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112869
Gene: ENSMUSG00000028782
AA Change: E198V

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

Meta Mutation Damage Score

0.1384

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (47/51)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,646 (GRCm39)	W948R	possibly damaging	Het
Ache	A	C	5: 137,290,194 (GRCm39)	M508L	probably damaging	Het
Adgrl4	A	G	3: 151,216,422 (GRCm39)	N535S	possibly damaging	Het
Agbl3	T	C	6: 34,834,533 (GRCm39)	S906P	probably benign	Het
Akna	T	C	4: 63,313,278 (GRCm39)	T282A	probably benign	Het
Arfgef2	G	A	2: 166,727,734 (GRCm39)	V1561M	probably damaging	Het
Arfgef3	T	C	10: 18,484,091 (GRCm39)	D1388G	possibly damaging	Het
Asnsd1	A	G	1: 53,387,129 (GRCm39)	V166A	probably benign	Het
Bank1	T	C	3: 135,990,004 (GRCm39)	I29V	probably benign	Het
Bpifb5	A	T	2: 154,082,678 (GRCm39)	I484F	possibly damaging	Het
Camta2	T	C	11: 70,565,512 (GRCm39)	E788G	probably damaging	Het
Ccdc18	T	G	5: 108,376,826 (GRCm39)	S1422R	possibly damaging	Het
Cdc42bpg	C	T	19: 6,370,585 (GRCm39)	P1226L	possibly damaging	Het
Cep126	T	C	9: 8,101,589 (GRCm39)	N315S	possibly damaging	Het
Dcaf4	T	A	12: 83,586,134 (GRCm39)	L367Q	probably damaging	Het
Dcc	A	T	18: 71,680,388 (GRCm39)	V616D	probably benign	Het
Dennd4a	G	A	9: 64,817,405 (GRCm39)	D1680N	possibly damaging	Het
Dgkq	C	G	5: 108,797,527 (GRCm39)	E788D	possibly damaging	Het
Dpep2	T	C	8: 106,712,114 (GRCm39)	E282G	probably benign	Het
Gm8221	T	A	15: 77,510,245 (GRCm39)		noncoding transcript	Het
Ice1	T	C	13: 70,757,146 (GRCm39)	S280G	possibly damaging	Het
Lrrc2	A	T	9: 110,791,713 (GRCm39)	Q155L	probably benign	Het
Mesd	G	A	7: 83,547,185 (GRCm39)	R216Q	probably benign	Het
Msh6	T	A	17: 88,287,697 (GRCm39)	N112K	probably damaging	Het
Myo15b	A	G	11: 115,781,778 (GRCm39)	E307G	probably benign	Het
Nod1	T	A	6: 54,920,981 (GRCm39)	N446Y	probably damaging	Het
Nrap	G	A	19: 56,339,913 (GRCm39)	T787I	probably damaging	Het
P2ry12	A	G	3: 59,125,078 (GRCm39)	I199T	probably damaging	Het
Prr11	T	G	11: 86,989,533 (GRCm39)	K279N	possibly damaging	Het
Psg25	C	T	7: 18,258,816 (GRCm39)	E287K	possibly damaging	Het
Rusc1	T	C	3: 88,999,615 (GRCm39)	S56G	probably benign	Het
Slc16a7	T	C	10: 125,064,056 (GRCm39)	N427S	probably damaging	Het
Slc47a1	T	A	11: 61,250,355 (GRCm39)	I341L	probably benign	Het
Slc9a8	T	A	2: 167,266,113 (GRCm39)	L30Q	probably benign	Het
Ssh2	T	A	11: 77,283,893 (GRCm39)	L49*	probably null	Het
Stard9	T	A	2: 120,530,722 (GRCm39)	D2326E	probably benign	Het
Thbs1	T	C	2: 117,950,431 (GRCm39)	I688T	possibly damaging	Het
Ttn	T	A	2: 76,746,822 (GRCm39)	E4742D	probably benign	Het
Vps37b	T	C	5: 124,145,689 (GRCm39)	I117V	probably damaging	Het
Xirp2	A	T	2: 67,343,782 (GRCm39)	M2008L	probably benign	Het
Zfp1005	T	G	2: 150,111,362 (GRCm39)	V684G	possibly damaging	Het
Zfp53	A	G	17: 21,729,497 (GRCm39)	E510G	probably damaging	Het
Zswim8	T	A	14: 20,764,365 (GRCm39)	S578R	probably benign	Het

Other mutations in Adgrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Adgrb2	APN	4	129,912,598 (GRCm39)	missense	probably damaging	1.00
IGL00425:Adgrb2	APN	4	129,912,865 (GRCm39)	missense	probably benign	0.09
IGL00490:Adgrb2	APN	4	129,905,665 (GRCm39)	missense	possibly damaging	0.82
IGL00928:Adgrb2	APN	4	129,886,096 (GRCm39)	missense	probably benign
IGL01353:Adgrb2	APN	4	129,906,093 (GRCm39)	missense	probably damaging	1.00
IGL01521:Adgrb2	APN	4	129,886,085 (GRCm39)	missense	probably damaging	0.98
IGL01590:Adgrb2	APN	4	129,907,606 (GRCm39)	splice site	probably benign
IGL01813:Adgrb2	APN	4	129,906,359 (GRCm39)	missense	probably benign	0.00
IGL01831:Adgrb2	APN	4	129,903,187 (GRCm39)	missense	probably damaging	1.00
IGL01939:Adgrb2	APN	4	129,885,925 (GRCm39)	missense	probably damaging	0.99
IGL01960:Adgrb2	APN	4	129,906,177 (GRCm39)	splice site	probably benign
IGL01993:Adgrb2	APN	4	129,912,635 (GRCm39)	missense	possibly damaging	0.94
IGL02646:Adgrb2	APN	4	129,913,075 (GRCm39)	critical splice donor site	probably null
IGL02655:Adgrb2	APN	4	129,885,972 (GRCm39)	nonsense	probably null
IGL02695:Adgrb2	APN	4	129,912,625 (GRCm39)	missense	probably damaging	1.00
IGL02998:Adgrb2	APN	4	129,912,862 (GRCm39)	missense	probably benign	0.15
IGL03372:Adgrb2	APN	4	129,911,362 (GRCm39)	missense	probably benign	0.42
R0098:Adgrb2	UTSW	4	129,901,624 (GRCm39)	missense	probably damaging	0.99
R0206:Adgrb2	UTSW	4	129,886,352 (GRCm39)	missense	probably damaging	1.00
R0311:Adgrb2	UTSW	4	129,910,922 (GRCm39)	missense	probably damaging	1.00
R0380:Adgrb2	UTSW	4	129,901,624 (GRCm39)	missense	probably damaging	0.99
R0382:Adgrb2	UTSW	4	129,901,624 (GRCm39)	missense	probably damaging	0.99
R0492:Adgrb2	UTSW	4	129,901,624 (GRCm39)	missense	probably damaging	0.99
R0544:Adgrb2	UTSW	4	129,911,335 (GRCm39)	missense	probably damaging	0.98
R0965:Adgrb2	UTSW	4	129,886,209 (GRCm39)	small deletion	probably benign
R1458:Adgrb2	UTSW	4	129,908,384 (GRCm39)	missense	possibly damaging	0.48
R1601:Adgrb2	UTSW	4	129,886,630 (GRCm39)	missense	probably benign	0.43
R1711:Adgrb2	UTSW	4	129,886,417 (GRCm39)	missense	probably damaging	1.00
R1758:Adgrb2	UTSW	4	129,905,668 (GRCm39)	missense	probably damaging	1.00
R1783:Adgrb2	UTSW	4	129,903,098 (GRCm39)	missense	possibly damaging	0.61
R1827:Adgrb2	UTSW	4	129,906,350 (GRCm39)	missense	probably damaging	1.00
R1838:Adgrb2	UTSW	4	129,904,024 (GRCm39)	missense	probably benign	0.00
R1881:Adgrb2	UTSW	4	129,904,078 (GRCm39)	missense	probably damaging	1.00
R1888:Adgrb2	UTSW	4	129,907,419 (GRCm39)	missense	probably damaging	1.00
R1888:Adgrb2	UTSW	4	129,907,419 (GRCm39)	missense	probably damaging	1.00
R1894:Adgrb2	UTSW	4	129,907,419 (GRCm39)	missense	probably damaging	1.00
R2275:Adgrb2	UTSW	4	129,900,647 (GRCm39)	missense	probably damaging	1.00
R2926:Adgrb2	UTSW	4	129,902,137 (GRCm39)	missense	probably damaging	1.00
R4472:Adgrb2	UTSW	4	129,902,146 (GRCm39)	missense	probably benign	0.12
R4490:Adgrb2	UTSW	4	129,906,121 (GRCm39)	missense	possibly damaging	0.91
R4758:Adgrb2	UTSW	4	129,903,143 (GRCm39)	missense	probably damaging	1.00
R4900:Adgrb2	UTSW	4	129,907,668 (GRCm39)	missense	probably damaging	1.00
R4904:Adgrb2	UTSW	4	129,906,332 (GRCm39)	missense	possibly damaging	0.50
R4922:Adgrb2	UTSW	4	129,901,645 (GRCm39)	missense	probably damaging	1.00
R5330:Adgrb2	UTSW	4	129,915,995 (GRCm39)	missense	possibly damaging	0.92
R5331:Adgrb2	UTSW	4	129,915,995 (GRCm39)	missense	possibly damaging	0.92
R5550:Adgrb2	UTSW	4	129,908,727 (GRCm39)	critical splice acceptor site	probably null
R5995:Adgrb2	UTSW	4	129,910,896 (GRCm39)	missense	probably damaging	1.00
R6047:Adgrb2	UTSW	4	129,912,498 (GRCm39)	missense	probably damaging	1.00
R6534:Adgrb2	UTSW	4	129,916,012 (GRCm39)	missense	probably damaging	0.98
R6565:Adgrb2	UTSW	4	129,913,069 (GRCm39)	missense	probably damaging	1.00
R6813:Adgrb2	UTSW	4	129,903,284 (GRCm39)	missense	probably damaging	1.00
R6963:Adgrb2	UTSW	4	129,908,155 (GRCm39)	frame shift	probably null
R6966:Adgrb2	UTSW	4	129,908,155 (GRCm39)	frame shift	probably null
R7197:Adgrb2	UTSW	4	129,903,315 (GRCm39)	missense	probably damaging	1.00
R7409:Adgrb2	UTSW	4	129,912,862 (GRCm39)	missense	probably benign	0.15
R7451:Adgrb2	UTSW	4	129,908,350 (GRCm39)	missense	probably damaging	1.00
R7453:Adgrb2	UTSW	4	129,908,430 (GRCm39)	critical splice donor site	probably null
R7461:Adgrb2	UTSW	4	129,915,006 (GRCm39)	critical splice acceptor site	probably benign
R7511:Adgrb2	UTSW	4	129,915,904 (GRCm39)	missense	probably benign
R7613:Adgrb2	UTSW	4	129,915,006 (GRCm39)	critical splice acceptor site	probably benign
R7729:Adgrb2	UTSW	4	129,885,917 (GRCm39)	missense	probably benign	0.09
R7818:Adgrb2	UTSW	4	129,908,762 (GRCm39)	missense	possibly damaging	0.70
R7818:Adgrb2	UTSW	4	129,908,353 (GRCm39)	missense	probably damaging	0.98
R8033:Adgrb2	UTSW	4	129,912,805 (GRCm39)	missense	probably benign
R8039:Adgrb2	UTSW	4	129,916,061 (GRCm39)	missense	probably damaging	0.99
R8097:Adgrb2	UTSW	4	129,901,690 (GRCm39)	missense	probably damaging	1.00
R8256:Adgrb2	UTSW	4	129,901,921 (GRCm39)	missense	probably damaging	0.96
R8425:Adgrb2	UTSW	4	129,898,850 (GRCm39)	missense	possibly damaging	0.72
R8804:Adgrb2	UTSW	4	129,899,212 (GRCm39)	missense	probably damaging	1.00
R9011:Adgrb2	UTSW	4	129,916,111 (GRCm39)	missense	probably damaging	1.00
R9018:Adgrb2	UTSW	4	129,907,659 (GRCm39)	missense	probably benign	0.34
R9102:Adgrb2	UTSW	4	129,912,802 (GRCm39)	missense	probably benign	0.04
R9113:Adgrb2	UTSW	4	129,910,877 (GRCm39)	missense	probably damaging	1.00
R9120:Adgrb2	UTSW	4	129,906,302 (GRCm39)	missense	possibly damaging	0.52
R9211:Adgrb2	UTSW	4	129,886,199 (GRCm39)	missense	probably benign	0.07
R9267:Adgrb2	UTSW	4	129,885,901 (GRCm39)	missense	possibly damaging	0.93
R9328:Adgrb2	UTSW	4	129,915,363 (GRCm39)	missense	probably damaging	1.00
R9470:Adgrb2	UTSW	4	129,903,074 (GRCm39)	missense	probably damaging	1.00
R9608:Adgrb2	UTSW	4	129,907,352 (GRCm39)	missense	probably damaging	0.98
RF020:Adgrb2	UTSW	4	129,903,877 (GRCm39)	missense	probably damaging	1.00
Z1176:Adgrb2	UTSW	4	129,911,356 (GRCm39)	missense	probably damaging	1.00
Z1177:Adgrb2	UTSW	4	129,912,912 (GRCm39)	missense	probably damaging	0.98
Z1177:Adgrb2	UTSW	4	129,905,619 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGCATCAGGGTTGGAGTTG -3'
(R):5'- TGAACAGGTCATTGCTGCTC -3'

Sequencing Primer
(F):5'- AGGCCCCTTTACCTTTCTGCAC -3'
(R):5'- ATTGCTGCTCCCCGAGTG -3'

Posted On

2015-07-21