Mutagenetix > Incidental Mutation

Incidental Mutation 'R7292:Adgrb3'

566458

Institutional Source

Beutler Lab

Gene Symbol

Adgrb3

Ensembl Gene

ENSMUSG00000033569

Gene Name

adhesion G protein-coupled receptor B3

Synonyms

Bai3, A830096D10Rik

MMRRC Submission

045397-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

R7292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25106557-25868788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25570957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 507 (C507R)

Ref Sequence

ENSEMBL: ENSMUSP00000035612 (fasta)

Gene Model

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

AlphaFold

Q80ZF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041838
AA Change: C507R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: C507R

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: ENSMUST00000135518
AA Change: C507R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: C507R

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: C300R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569
AA Change: C300R

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: C507R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: C507R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,215,861 (GRCm39)	C322*	probably null	Het
4930553M12Rik	G	A	4: 88,786,568 (GRCm39)	R17C	unknown	Het
Abcc8	G	A	7: 45,784,950 (GRCm39)	T726I	probably benign	Het
Adamts18	T	C	8: 114,436,277 (GRCm39)	T981A	probably benign	Het
Bloc1s6	T	A	2: 122,584,615 (GRCm39)	D63E	probably damaging	Het
Cdc25b	C	T	2: 131,033,093 (GRCm39)	R135W	probably damaging	Het
Cdca2	G	T	14: 67,915,326 (GRCm39)	Y644*	probably null	Het
Ceacam10	G	T	7: 24,477,775 (GRCm39)	G97C	probably damaging	Het
Cenpf	G	A	1: 189,382,891 (GRCm39)	L2668F	probably damaging	Het
Cog4	A	G	8: 111,608,460 (GRCm39)	D774G	probably damaging	Het
Col11a2	G	A	17: 34,270,482 (GRCm39)	G511E	unknown	Het
Col19a1	T	A	1: 24,569,089 (GRCm39)	I220F	unknown	Het
Cubn	G	T	2: 13,429,550 (GRCm39)	T1317K	probably damaging	Het
Dnaaf5	T	C	5: 139,136,072 (GRCm39)	L24P	unknown	Het
Eif4a3l2	G	A	6: 116,528,438 (GRCm39)	R105Q	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Foxn4	C	A	5: 114,396,716 (GRCm39)	E256*	probably null	Het
Gm5930	A	G	14: 44,574,014 (GRCm39)	S108P	probably damaging	Het
Gnl3	A	G	14: 30,735,189 (GRCm39)	S468P	probably benign	Het
Gzmb	A	T	14: 56,499,576 (GRCm39)	S11T	probably benign	Het
Hmcn1	T	C	1: 150,608,880 (GRCm39)		probably null	Het
Ifi206	A	G	1: 173,301,428 (GRCm39)	L750P	unknown	Het
Ifi213	T	A	1: 173,422,691 (GRCm39)	E58V	probably damaging	Het
Igkv4-78	A	T	6: 69,036,752 (GRCm39)	Y94N	probably damaging	Het
Igsf9	G	T	1: 172,319,324 (GRCm39)		probably null	Het
Itpr2	G	T	6: 146,060,447 (GRCm39)	L2490M	possibly damaging	Het
Kdm2b	A	G	5: 123,018,854 (GRCm39)	F862S	probably damaging	Het
Kif19b	A	G	5: 140,457,425 (GRCm39)	D398G	probably benign	Het
Meis1	A	G	11: 18,961,351 (GRCm39)	I174T	probably damaging	Het
Micu3	A	G	8: 40,835,166 (GRCm39)	Q507R	probably benign	Het
Mpp4	C	T	1: 59,182,969 (GRCm39)	E313K	possibly damaging	Het
Nfatc4	G	A	14: 56,062,512 (GRCm39)	E7K	probably damaging	Het
Or7g16	A	T	9: 18,727,486 (GRCm39)	Y35N	probably damaging	Het
Or9s18	T	A	13: 65,300,656 (GRCm39)	V206D	possibly damaging	Het
Osbpl5	G	A	7: 143,255,015 (GRCm39)	P470S	probably damaging	Het
Pak6	A	G	2: 118,524,072 (GRCm39)	D409G	possibly damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,361,986 (GRCm39)	M553K	probably benign	Het
Ppp2r3d	T	C	9: 101,089,871 (GRCm39)	N151D	probably damaging	Het
Prdm12	T	C	2: 31,533,862 (GRCm39)	W160R	probably damaging	Het
Prdm2	G	A	4: 142,859,471 (GRCm39)	T1273M	possibly damaging	Het
Prl2a1	A	G	13: 27,991,353 (GRCm39)		probably null	Het
Prob1	G	A	18: 35,787,603 (GRCm39)	P217L	possibly damaging	Het
Ramp1	A	C	1: 91,124,499 (GRCm39)	H20P	probably benign	Het
Rbm47	T	A	5: 66,184,093 (GRCm39)	E170V	possibly damaging	Het
Relch	G	T	1: 105,649,141 (GRCm39)		probably null	Het
Rpn1	C	T	6: 88,067,066 (GRCm39)	P142L	probably damaging	Het
Rsu1	C	T	2: 13,174,827 (GRCm39)	R238H	probably damaging	Het
Sh3rf3	C	T	10: 58,907,795 (GRCm39)	P441L	probably damaging	Het
Slc1a6	A	G	10: 78,650,438 (GRCm39)	S559G	possibly damaging	Het
Slc35f5	C	A	1: 125,500,222 (GRCm39)	S245R	probably damaging	Het
Spcs3	T	C	8: 54,979,554 (GRCm39)	N76D	probably benign	Het
Spmip5	A	T	19: 58,777,539 (GRCm39)	Y90*	probably null	Het
Svep1	T	C	4: 58,111,395 (GRCm39)	T1075A	possibly damaging	Het
Sympk	A	T	7: 18,769,955 (GRCm39)	I211F	probably benign	Het
Tk1	C	T	11: 117,716,603 (GRCm39)	M1I	probably null	Het
Tln2	A	G	9: 67,253,743 (GRCm39)	V776A	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tnk2	T	C	16: 32,499,618 (GRCm39)	V977A	probably benign	Het
Toporsl	A	T	4: 52,611,630 (GRCm39)	S508C	probably benign	Het
Trank1	A	C	9: 111,206,938 (GRCm39)	R1690S	probably benign	Het
Trio	T	A	15: 27,828,437 (GRCm39)	Q1409L	possibly damaging	Het
Vit	T	C	17: 78,912,927 (GRCm39)	F287L	probably benign	Het
Vmn2r109	G	C	17: 20,761,700 (GRCm39)	D552E	probably benign	Het
Zw10	T	C	9: 48,972,491 (GRCm39)	V186A	probably benign	Het

Other mutations in Adgrb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Adgrb3	APN	1	25,267,581 (GRCm39)	missense	probably benign	0.09
IGL00507:Adgrb3	APN	1	25,113,796 (GRCm39)	missense	possibly damaging	0.93
IGL00828:Adgrb3	APN	1	25,527,200 (GRCm39)	missense	possibly damaging	0.73
IGL01285:Adgrb3	APN	1	25,132,868 (GRCm39)	missense	probably benign	0.32
IGL01309:Adgrb3	APN	1	25,151,352 (GRCm39)	missense	possibly damaging	0.69
IGL01540:Adgrb3	APN	1	25,151,252 (GRCm39)	splice site	probably null
IGL01608:Adgrb3	APN	1	25,592,855 (GRCm39)	missense	probably damaging	1.00
IGL01638:Adgrb3	APN	1	25,598,832 (GRCm39)	splice site	probably benign
IGL01657:Adgrb3	APN	1	25,865,574 (GRCm39)	missense	probably benign	0.03
IGL01666:Adgrb3	APN	1	25,499,832 (GRCm39)	missense	probably damaging	0.96
IGL01712:Adgrb3	APN	1	25,865,360 (GRCm39)	missense	probably benign
IGL01767:Adgrb3	APN	1	25,598,895 (GRCm39)	missense	probably benign	0.00
IGL01987:Adgrb3	APN	1	25,140,512 (GRCm39)	critical splice donor site	probably null
IGL02201:Adgrb3	APN	1	25,459,631 (GRCm39)	splice site	probably benign
IGL02584:Adgrb3	APN	1	25,544,065 (GRCm39)	missense	probably damaging	0.98
IGL02685:Adgrb3	APN	1	25,123,323 (GRCm39)	critical splice donor site	probably null
IGL02886:Adgrb3	APN	1	25,543,991 (GRCm39)	splice site	probably null
IGL02929:Adgrb3	APN	1	25,592,905 (GRCm39)	missense	probably benign	0.00
IGL03153:Adgrb3	APN	1	25,570,978 (GRCm39)	nonsense	probably null
IGL03165:Adgrb3	APN	1	25,133,475 (GRCm39)	missense	probably benign	0.05
IGL03227:Adgrb3	APN	1	25,586,556 (GRCm39)	missense	probably damaging	1.00
IGL03392:Adgrb3	APN	1	25,543,529 (GRCm39)	missense	probably damaging	0.99
schwach	UTSW	1	25,150,772 (GRCm39)	critical splice donor site	probably null
R0007:Adgrb3	UTSW	1	25,150,772 (GRCm39)	critical splice donor site	probably null
R0048:Adgrb3	UTSW	1	25,140,563 (GRCm39)	missense	probably benign	0.02
R0048:Adgrb3	UTSW	1	25,140,563 (GRCm39)	missense	probably benign	0.02
R0322:Adgrb3	UTSW	1	25,260,829 (GRCm39)	splice site	probably benign
R0442:Adgrb3	UTSW	1	25,435,551 (GRCm39)	missense	probably damaging	0.96
R0563:Adgrb3	UTSW	1	25,586,635 (GRCm39)	missense	probably damaging	0.99
R1168:Adgrb3	UTSW	1	25,865,280 (GRCm39)	missense	probably benign
R1252:Adgrb3	UTSW	1	25,167,909 (GRCm39)	missense	probably damaging	1.00
R1264:Adgrb3	UTSW	1	25,598,931 (GRCm39)	missense	probably damaging	0.97
R1543:Adgrb3	UTSW	1	25,527,169 (GRCm39)	missense	probably benign	0.01
R1577:Adgrb3	UTSW	1	25,133,264 (GRCm39)	missense	possibly damaging	0.51
R1581:Adgrb3	UTSW	1	25,133,153 (GRCm39)	missense	possibly damaging	0.94
R1583:Adgrb3	UTSW	1	25,265,912 (GRCm39)	splice site	probably null
R1653:Adgrb3	UTSW	1	25,140,584 (GRCm39)	missense	probably benign	0.09
R1725:Adgrb3	UTSW	1	25,865,381 (GRCm39)	missense	probably damaging	1.00
R1792:Adgrb3	UTSW	1	25,267,552 (GRCm39)	missense	probably damaging	1.00
R1827:Adgrb3	UTSW	1	25,571,658 (GRCm39)	missense	probably damaging	0.99
R1838:Adgrb3	UTSW	1	25,123,351 (GRCm39)	missense	probably damaging	1.00
R1869:Adgrb3	UTSW	1	25,865,519 (GRCm39)	missense	possibly damaging	0.83
R1971:Adgrb3	UTSW	1	25,586,525 (GRCm39)	missense	probably benign	0.02
R2005:Adgrb3	UTSW	1	25,150,799 (GRCm39)	missense	probably benign	0.25
R2134:Adgrb3	UTSW	1	25,133,038 (GRCm39)	missense	probably damaging	0.99
R2142:Adgrb3	UTSW	1	25,107,290 (GRCm39)	missense	probably damaging	1.00
R2268:Adgrb3	UTSW	1	25,150,898 (GRCm39)	missense	possibly damaging	0.79
R3740:Adgrb3	UTSW	1	25,865,535 (GRCm39)	missense	probably benign	0.00
R3877:Adgrb3	UTSW	1	25,150,906 (GRCm39)	missense	probably damaging	1.00
R4120:Adgrb3	UTSW	1	25,133,388 (GRCm39)	nonsense	probably null
R4344:Adgrb3	UTSW	1	25,865,829 (GRCm39)	missense	possibly damaging	0.61
R4363:Adgrb3	UTSW	1	25,151,303 (GRCm39)	missense	probably damaging	1.00
R4438:Adgrb3	UTSW	1	25,870,108 (GRCm39)	unclassified	probably benign
R4465:Adgrb3	UTSW	1	25,133,447 (GRCm39)	missense	probably damaging	1.00
R4480:Adgrb3	UTSW	1	25,150,829 (GRCm39)	missense	probably damaging	1.00
R4554:Adgrb3	UTSW	1	25,123,360 (GRCm39)	missense	probably damaging	1.00
R4557:Adgrb3	UTSW	1	25,123,360 (GRCm39)	missense	probably damaging	1.00
R4622:Adgrb3	UTSW	1	25,865,569 (GRCm39)	missense	probably damaging	0.99
R4713:Adgrb3	UTSW	1	25,586,613 (GRCm39)	missense	probably damaging	1.00
R4772:Adgrb3	UTSW	1	25,570,956 (GRCm39)	missense	probably damaging	1.00
R4890:Adgrb3	UTSW	1	25,260,908 (GRCm39)	missense	probably damaging	1.00
R5045:Adgrb3	UTSW	1	25,113,860 (GRCm39)	missense	probably damaging	1.00
R5061:Adgrb3	UTSW	1	25,107,209 (GRCm39)	utr 3 prime	probably benign
R5097:Adgrb3	UTSW	1	25,865,165 (GRCm39)	missense	probably damaging	1.00
R5227:Adgrb3	UTSW	1	25,133,033 (GRCm39)	missense	possibly damaging	0.55
R5241:Adgrb3	UTSW	1	25,150,871 (GRCm39)	missense	possibly damaging	0.85
R5328:Adgrb3	UTSW	1	25,133,356 (GRCm39)	missense	possibly damaging	0.90
R5372:Adgrb3	UTSW	1	25,167,940 (GRCm39)	missense	probably benign	0.01
R5703:Adgrb3	UTSW	1	25,459,640 (GRCm39)	missense	probably damaging	1.00
R5747:Adgrb3	UTSW	1	25,865,643 (GRCm39)	missense	probably damaging	1.00
R5998:Adgrb3	UTSW	1	25,470,582 (GRCm39)	splice site	probably null
R6006:Adgrb3	UTSW	1	25,865,612 (GRCm39)	missense	possibly damaging	0.85
R6077:Adgrb3	UTSW	1	25,133,081 (GRCm39)	nonsense	probably null
R6183:Adgrb3	UTSW	1	25,133,451 (GRCm39)	missense	probably damaging	0.98
R6190:Adgrb3	UTSW	1	25,459,728 (GRCm39)	missense	probably benign	0.01
R6249:Adgrb3	UTSW	1	25,471,639 (GRCm39)	missense	probably damaging	1.00
R6310:Adgrb3	UTSW	1	25,150,799 (GRCm39)	missense	probably benign	0.13
R6450:Adgrb3	UTSW	1	25,459,683 (GRCm39)	missense	probably benign
R6678:Adgrb3	UTSW	1	25,499,891 (GRCm39)	missense	possibly damaging	0.84
R6679:Adgrb3	UTSW	1	25,170,377 (GRCm39)	missense	probably benign	0.01
R6685:Adgrb3	UTSW	1	25,150,817 (GRCm39)	nonsense	probably null
R6730:Adgrb3	UTSW	1	25,133,375 (GRCm39)	missense	probably damaging	1.00
R6805:Adgrb3	UTSW	1	25,865,253 (GRCm39)	missense	possibly damaging	0.83
R6847:Adgrb3	UTSW	1	25,133,003 (GRCm39)	missense	probably benign	0.03
R6929:Adgrb3	UTSW	1	25,150,852 (GRCm39)	nonsense	probably null
R6953:Adgrb3	UTSW	1	25,865,592 (GRCm39)	missense	probably damaging	1.00
R7062:Adgrb3	UTSW	1	25,865,166 (GRCm39)	missense	possibly damaging	0.90
R7244:Adgrb3	UTSW	1	25,170,350 (GRCm39)	missense	probably damaging	1.00
R7325:Adgrb3	UTSW	1	25,571,711 (GRCm39)	missense	probably benign	0.01
R7378:Adgrb3	UTSW	1	25,571,000 (GRCm39)	nonsense	probably null
R7489:Adgrb3	UTSW	1	25,586,586 (GRCm39)	missense	probably damaging	1.00
R7615:Adgrb3	UTSW	1	25,137,978 (GRCm39)	missense	probably damaging	1.00
R7623:Adgrb3	UTSW	1	25,586,629 (GRCm39)	missense	probably damaging	1.00
R7787:Adgrb3	UTSW	1	25,471,625 (GRCm39)	missense	probably damaging	1.00
R7837:Adgrb3	UTSW	1	25,167,915 (GRCm39)	missense	probably damaging	1.00
R8064:Adgrb3	UTSW	1	25,459,637 (GRCm39)	critical splice donor site	probably null
R8152:Adgrb3	UTSW	1	25,260,838 (GRCm39)	splice site	probably null
R8161:Adgrb3	UTSW	1	25,133,003 (GRCm39)	missense	probably benign	0.03
R8225:Adgrb3	UTSW	1	25,865,597 (GRCm39)	missense	probably benign	0.00
R8417:Adgrb3	UTSW	1	25,527,134 (GRCm39)	missense	probably benign	0.21
R8694:Adgrb3	UTSW	1	25,865,472 (GRCm39)	missense	probably damaging	0.98
R8742:Adgrb3	UTSW	1	25,265,835 (GRCm39)	missense	probably benign	0.01
R8886:Adgrb3	UTSW	1	25,150,928 (GRCm39)	missense	probably damaging	1.00
R8941:Adgrb3	UTSW	1	25,133,235 (GRCm39)	missense	probably damaging	1.00
R8958:Adgrb3	UTSW	1	25,865,190 (GRCm39)	missense	possibly damaging	0.68
R8979:Adgrb3	UTSW	1	25,527,115 (GRCm39)	missense	probably benign	0.03
R9064:Adgrb3	UTSW	1	25,570,965 (GRCm39)	missense	possibly damaging	0.86
R9252:Adgrb3	UTSW	1	25,865,496 (GRCm39)	missense	probably benign	0.03
R9401:Adgrb3	UTSW	1	25,592,783 (GRCm39)	missense	probably damaging	1.00
R9739:Adgrb3	UTSW	1	25,592,849 (GRCm39)	missense	probably damaging	1.00
Z1088:Adgrb3	UTSW	1	25,170,352 (GRCm39)	missense	probably damaging	1.00
Z1176:Adgrb3	UTSW	1	25,132,995 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GTAGCTACAATTGGGCTATCATG -3'
(R):5'- CTTTCTTTCAGCCAATGGTCAG -3'

Sequencing Primer
(F):5'- GCTACAATTGGGCTATCATGTATTTC -3'
(R):5'- TCAGTGGAATCAGTGGGGTCAC -3'

Posted On

2019-06-26