Mutagenetix > Incidental Mutation

Incidental Mutation 'R4554:Adgrb3'

499974

Institutional Source

Beutler Lab

Gene Symbol

Adgrb3

Ensembl Gene

ENSMUSG00000033569

Gene Name

adhesion G protein-coupled receptor B3

Synonyms

Bai3, A830096D10Rik

MMRRC Submission

041596-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

R4554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25067476-25829707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25084279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1414 (R1414G)

Ref Sequence

ENSEMBL: ENSMUSP00000116231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041838] [ENSMUST00000126626] [ENSMUST00000135518] [ENSMUST00000146592] [ENSMUST00000151309]

AlphaFold

Q80ZF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041838
AA Change: R1414G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: R1414G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	212	223	N/A	INTRINSIC
TSP1	294	343	2.1e-12	SMART
TSP1	348	398	7.97e-13	SMART
TSP1	403	453	6.28e-11	SMART
TSP1	458	508	1.48e-7	SMART
HormR	510	576	4.15e-20	SMART
Pfam:DUF3497	586	810	1.7e-52	PFAM
GPS	815	868	1.24e-21	SMART
Pfam:7tm_2	874	1143	2.1e-64	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126626
AA Change: R544G

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115442
Gene: ENSMUSG00000033569
AA Change: R544G

Domain	Start	End	E-Value	Type
Pfam:7tm_2	4	273	7.3e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135518
AA Change: R1414G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: R1414G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	212	223	N/A	INTRINSIC
TSP1	294	343	2.1e-12	SMART
TSP1	348	398	7.97e-13	SMART
TSP1	403	453	6.28e-11	SMART
TSP1	458	508	1.48e-7	SMART
HormR	510	576	4.15e-20	SMART
Pfam:DUF3497	586	810	1.7e-52	PFAM
GPS	815	868	1.24e-21	SMART
Pfam:7tm_2	874	1143	2.1e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146592
AA Change: R1174G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569
AA Change: R1174G

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
TSP1	87	136	2.1e-12	SMART
TSP1	141	191	7.97e-13	SMART
TSP1	196	246	6.28e-11	SMART
TSP1	251	301	1.48e-7	SMART
HormR	303	369	4.15e-20	SMART
Pfam:DUF3497	379	603	2.5e-52	PFAM
GPS	608	661	1.24e-21	SMART
Pfam:7tm_2	667	903	5.4e-66	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000151309
AA Change: R1414G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: R1414G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	212	223	N/A	INTRINSIC
TSP1	294	343	2.1e-12	SMART
TSP1	348	398	7.97e-13	SMART
TSP1	403	453	6.28e-11	SMART
TSP1	458	508	1.48e-7	SMART
HormR	510	576	4.15e-20	SMART
Pfam:GAIN	589	794	1.1e-44	PFAM
GPS	815	868	1.24e-21	SMART
Pfam:7tm_2	875	1143	2.7e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153568

Meta Mutation Damage Score

0.2603

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in Purkinje cells exhibit impaired motor learning with alterned climbing fiber electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 122,156,343	A1772V	possibly damaging	Het
Adamts17	A	T	7: 67,027,893	E518D	probably damaging	Het
Ahnak	G	A	19: 9,014,930	G4526D	probably damaging	Het
Alms1	G	A	6: 85,624,617	R2150H	probably benign	Het
Amh	A	T	10: 80,807,051	E356D	probably benign	Het
Cap2	T	A	13: 46,635,774	F152I	probably damaging	Het
Chil3	T	G	3: 106,160,370	K160Q	probably benign	Het
Ep300	T	A	15: 81,601,430	M206K	unknown	Het
Gm960	T	C	19: 4,649,819	Q452R	possibly damaging	Het
Lsamp	G	C	16: 42,144,075	D271H	probably damaging	Het
Marf1	T	C	16: 14,153,977		probably benign	Het
Mfsd11	T	G	11: 116,861,580	V133G	probably damaging	Het
Ngrn	C	T	7: 80,264,701	T200I	possibly damaging	Het
Olfr1084	T	A	2: 86,638,779	N310Y	possibly damaging	Het
Phf20l1	A	G	15: 66,597,367	T117A	probably damaging	Het
Pitpnm1	A	G	19: 4,103,085	Q135R	probably benign	Het
Poc5	A	G	13: 96,403,021	K357E	probably benign	Het
Rfx8	C	T	1: 39,680,940	R325H	probably benign	Het
Rhbdd3	C	T	11: 5,105,946	P366L	probably benign	Het
Rtl1	T	C	12: 109,594,328	N359S	possibly damaging	Het
Ryr1	T	C	7: 29,105,008	T499A	probably benign	Het
Tex2	G	T	11: 106,544,386	P738H	unknown	Het
Thap12	A	G	7: 98,715,845	N407D	probably benign	Het
Tmc5	T	C	7: 118,670,733	I902T	probably benign	Het
Zswim9	T	C	7: 13,277,162	N87D	probably benign	Het

Other mutations in Adgrb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Adgrb3	APN	1	25,228,500 (GRCm38)	missense	probably benign	0.09
IGL00507:Adgrb3	APN	1	25,074,715 (GRCm38)	missense	possibly damaging	0.93
IGL00828:Adgrb3	APN	1	25,488,119 (GRCm38)	missense	possibly damaging	0.73
IGL01285:Adgrb3	APN	1	25,093,787 (GRCm38)	missense	probably benign	0.32
IGL01309:Adgrb3	APN	1	25,112,271 (GRCm38)	missense	possibly damaging	0.69
IGL01540:Adgrb3	APN	1	25,112,171 (GRCm38)	splice site	probably null
IGL01608:Adgrb3	APN	1	25,553,774 (GRCm38)	missense	probably damaging	1.00
IGL01638:Adgrb3	APN	1	25,559,751 (GRCm38)	splice site	probably benign
IGL01657:Adgrb3	APN	1	25,826,493 (GRCm38)	missense	probably benign	0.03
IGL01666:Adgrb3	APN	1	25,460,751 (GRCm38)	missense	probably damaging	0.96
IGL01712:Adgrb3	APN	1	25,826,279 (GRCm38)	missense	probably benign
IGL01767:Adgrb3	APN	1	25,559,814 (GRCm38)	missense	probably benign	0.00
IGL01987:Adgrb3	APN	1	25,101,431 (GRCm38)	critical splice donor site	probably null
IGL02201:Adgrb3	APN	1	25,420,550 (GRCm38)	splice site	probably benign
IGL02584:Adgrb3	APN	1	25,504,984 (GRCm38)	missense	probably damaging	0.98
IGL02685:Adgrb3	APN	1	25,084,242 (GRCm38)	critical splice donor site	probably null
IGL02886:Adgrb3	APN	1	25,504,910 (GRCm38)	splice site	probably null
IGL02929:Adgrb3	APN	1	25,553,824 (GRCm38)	missense	probably benign	0.00
IGL03153:Adgrb3	APN	1	25,531,897 (GRCm38)	nonsense	probably null
IGL03165:Adgrb3	APN	1	25,094,394 (GRCm38)	missense	probably benign	0.05
IGL03227:Adgrb3	APN	1	25,547,475 (GRCm38)	missense	probably damaging	1.00
IGL03392:Adgrb3	APN	1	25,504,448 (GRCm38)	missense	probably damaging	0.99
schwach	UTSW	1	25,111,691 (GRCm38)	critical splice donor site	probably null
R0007:Adgrb3	UTSW	1	25,111,691 (GRCm38)	critical splice donor site	probably null
R0048:Adgrb3	UTSW	1	25,101,482 (GRCm38)	missense	probably benign	0.02
R0048:Adgrb3	UTSW	1	25,101,482 (GRCm38)	missense	probably benign	0.02
R0322:Adgrb3	UTSW	1	25,221,748 (GRCm38)	splice site	probably benign
R0442:Adgrb3	UTSW	1	25,396,470 (GRCm38)	missense	probably damaging	0.96
R0563:Adgrb3	UTSW	1	25,547,554 (GRCm38)	missense	probably damaging	0.99
R1168:Adgrb3	UTSW	1	25,826,199 (GRCm38)	missense	probably benign
R1252:Adgrb3	UTSW	1	25,128,828 (GRCm38)	missense	probably damaging	1.00
R1264:Adgrb3	UTSW	1	25,559,850 (GRCm38)	missense	probably damaging	0.97
R1543:Adgrb3	UTSW	1	25,488,088 (GRCm38)	missense	probably benign	0.01
R1577:Adgrb3	UTSW	1	25,094,183 (GRCm38)	missense	possibly damaging	0.51
R1581:Adgrb3	UTSW	1	25,094,072 (GRCm38)	missense	possibly damaging	0.94
R1583:Adgrb3	UTSW	1	25,226,831 (GRCm38)	splice site	probably null
R1653:Adgrb3	UTSW	1	25,101,503 (GRCm38)	missense	probably benign	0.09
R1725:Adgrb3	UTSW	1	25,826,300 (GRCm38)	missense	probably damaging	1.00
R1792:Adgrb3	UTSW	1	25,228,471 (GRCm38)	missense	probably damaging	1.00
R1827:Adgrb3	UTSW	1	25,532,577 (GRCm38)	missense	probably damaging	0.99
R1838:Adgrb3	UTSW	1	25,084,270 (GRCm38)	missense	probably damaging	1.00
R1869:Adgrb3	UTSW	1	25,826,438 (GRCm38)	missense	possibly damaging	0.83
R1971:Adgrb3	UTSW	1	25,547,444 (GRCm38)	missense	probably benign	0.02
R2005:Adgrb3	UTSW	1	25,111,718 (GRCm38)	missense	probably benign	0.25
R2134:Adgrb3	UTSW	1	25,093,957 (GRCm38)	missense	probably damaging	0.99
R2142:Adgrb3	UTSW	1	25,068,209 (GRCm38)	missense	probably damaging	1.00
R2268:Adgrb3	UTSW	1	25,111,817 (GRCm38)	missense	possibly damaging	0.79
R3740:Adgrb3	UTSW	1	25,826,454 (GRCm38)	missense	probably benign	0.00
R3877:Adgrb3	UTSW	1	25,111,825 (GRCm38)	missense	probably damaging	1.00
R4120:Adgrb3	UTSW	1	25,094,307 (GRCm38)	nonsense	probably null
R4344:Adgrb3	UTSW	1	25,826,748 (GRCm38)	missense	possibly damaging	0.61
R4363:Adgrb3	UTSW	1	25,112,222 (GRCm38)	missense	probably damaging	1.00
R4438:Adgrb3	UTSW	1	25,831,027 (GRCm38)	unclassified	probably benign
R4465:Adgrb3	UTSW	1	25,094,366 (GRCm38)	missense	probably damaging	1.00
R4480:Adgrb3	UTSW	1	25,111,748 (GRCm38)	missense	probably damaging	1.00
R4557:Adgrb3	UTSW	1	25,084,279 (GRCm38)	missense	probably damaging	1.00
R4622:Adgrb3	UTSW	1	25,826,488 (GRCm38)	missense	probably damaging	0.99
R4713:Adgrb3	UTSW	1	25,547,532 (GRCm38)	missense	probably damaging	1.00
R4772:Adgrb3	UTSW	1	25,531,875 (GRCm38)	missense	probably damaging	1.00
R4890:Adgrb3	UTSW	1	25,221,827 (GRCm38)	missense	probably damaging	1.00
R5045:Adgrb3	UTSW	1	25,074,779 (GRCm38)	missense	probably damaging	1.00
R5061:Adgrb3	UTSW	1	25,068,128 (GRCm38)	utr 3 prime	probably benign
R5097:Adgrb3	UTSW	1	25,826,084 (GRCm38)	missense	probably damaging	1.00
R5227:Adgrb3	UTSW	1	25,093,952 (GRCm38)	missense	possibly damaging	0.55
R5241:Adgrb3	UTSW	1	25,111,790 (GRCm38)	missense	possibly damaging	0.85
R5328:Adgrb3	UTSW	1	25,094,275 (GRCm38)	missense	possibly damaging	0.90
R5372:Adgrb3	UTSW	1	25,128,859 (GRCm38)	missense	probably benign	0.01
R5703:Adgrb3	UTSW	1	25,420,559 (GRCm38)	missense	probably damaging	1.00
R5747:Adgrb3	UTSW	1	25,826,562 (GRCm38)	missense	probably damaging	1.00
R5998:Adgrb3	UTSW	1	25,431,501 (GRCm38)	splice site	probably null
R6006:Adgrb3	UTSW	1	25,826,531 (GRCm38)	missense	possibly damaging	0.85
R6077:Adgrb3	UTSW	1	25,094,000 (GRCm38)	nonsense	probably null
R6183:Adgrb3	UTSW	1	25,094,370 (GRCm38)	missense	probably damaging	0.98
R6190:Adgrb3	UTSW	1	25,420,647 (GRCm38)	missense	probably benign	0.01
R6249:Adgrb3	UTSW	1	25,432,558 (GRCm38)	missense	probably damaging	1.00
R6310:Adgrb3	UTSW	1	25,111,718 (GRCm38)	missense	probably benign	0.13
R6450:Adgrb3	UTSW	1	25,420,602 (GRCm38)	missense	probably benign
R6678:Adgrb3	UTSW	1	25,460,810 (GRCm38)	missense	possibly damaging	0.84
R6679:Adgrb3	UTSW	1	25,131,296 (GRCm38)	missense	probably benign	0.01
R6685:Adgrb3	UTSW	1	25,111,736 (GRCm38)	nonsense	probably null
R6730:Adgrb3	UTSW	1	25,094,294 (GRCm38)	missense	probably damaging	1.00
R6805:Adgrb3	UTSW	1	25,826,172 (GRCm38)	missense	possibly damaging	0.83
R6847:Adgrb3	UTSW	1	25,093,922 (GRCm38)	missense	probably benign	0.03
R6929:Adgrb3	UTSW	1	25,111,771 (GRCm38)	nonsense	probably null
R6953:Adgrb3	UTSW	1	25,826,511 (GRCm38)	missense	probably damaging	1.00
R7062:Adgrb3	UTSW	1	25,826,085 (GRCm38)	missense	possibly damaging	0.90
R7244:Adgrb3	UTSW	1	25,131,269 (GRCm38)	missense	probably damaging	1.00
R7292:Adgrb3	UTSW	1	25,531,876 (GRCm38)	missense	probably damaging	1.00
R7325:Adgrb3	UTSW	1	25,532,630 (GRCm38)	missense	probably benign	0.01
R7378:Adgrb3	UTSW	1	25,531,919 (GRCm38)	nonsense	probably null
R7489:Adgrb3	UTSW	1	25,547,505 (GRCm38)	missense	probably damaging	1.00
R7615:Adgrb3	UTSW	1	25,098,897 (GRCm38)	missense	probably damaging	1.00
R7623:Adgrb3	UTSW	1	25,547,548 (GRCm38)	missense	probably damaging	1.00
R7787:Adgrb3	UTSW	1	25,432,544 (GRCm38)	missense	probably damaging	1.00
R7837:Adgrb3	UTSW	1	25,128,834 (GRCm38)	missense	probably damaging	1.00
R8064:Adgrb3	UTSW	1	25,420,556 (GRCm38)	critical splice donor site	probably null
R8152:Adgrb3	UTSW	1	25,221,757 (GRCm38)	splice site	probably null
R8161:Adgrb3	UTSW	1	25,093,922 (GRCm38)	missense	probably benign	0.03
R8225:Adgrb3	UTSW	1	25,826,516 (GRCm38)	missense	probably benign	0.00
R8417:Adgrb3	UTSW	1	25,488,053 (GRCm38)	missense	probably benign	0.21
R8694:Adgrb3	UTSW	1	25,826,391 (GRCm38)	missense	probably damaging	0.98
R8742:Adgrb3	UTSW	1	25,226,754 (GRCm38)	missense	probably benign	0.01
R8886:Adgrb3	UTSW	1	25,111,847 (GRCm38)	missense	probably damaging	1.00
R8941:Adgrb3	UTSW	1	25,094,154 (GRCm38)	missense	probably damaging	1.00
R8958:Adgrb3	UTSW	1	25,826,109 (GRCm38)	missense	possibly damaging	0.68
R8979:Adgrb3	UTSW	1	25,488,034 (GRCm38)	missense	probably benign	0.03
R9064:Adgrb3	UTSW	1	25,531,884 (GRCm38)	missense	possibly damaging	0.86
R9252:Adgrb3	UTSW	1	25,826,415 (GRCm38)	missense	probably benign	0.03
R9401:Adgrb3	UTSW	1	25,553,702 (GRCm38)	missense	probably damaging	1.00
R9739:Adgrb3	UTSW	1	25,553,768 (GRCm38)	missense	probably damaging	1.00
Z1088:Adgrb3	UTSW	1	25,131,271 (GRCm38)	missense	probably damaging	1.00
Z1176:Adgrb3	UTSW	1	25,093,914 (GRCm38)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CCTTGGAGGAGTCATCACAACTC -3'
(R):5'- TCCTCTACCTTTAAGTGAAGTTCGAG -3'

Sequencing Primer
(F):5'- TGGAGGAGTCATCACAACTCTAAATC -3'
(R):5'- TTTAAGTGAAGTTCGAGGTGAAAATG -3'

Posted On

2017-11-30