Mutagenetix > Incidental Mutation

Incidental Mutation 'R7623:Adgrb3'

589229

Institutional Source

Beutler Lab

Gene Symbol

Adgrb3

Ensembl Gene

ENSMUSG00000033569

Gene Name

adhesion G protein-coupled receptor B3

Synonyms

Bai3, A830096D10Rik

MMRRC Submission

045718-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

R7623 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25106557-25868788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25586629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 355 (S355C)

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: S355C

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

SMART Domains

Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: S355C

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: S355C

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

SMART Domains

Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: S355C

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: ENSMUST00000146592
AA Change: S148C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569
AA Change: S148C

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: S355C

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

SMART Domains

Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: S355C

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

Meta Mutation Damage Score

0.2918

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	G	T	16: 21,513,092 (GRCm39)	L22M	probably damaging	Het
Abca9	T	C	11: 109,998,384 (GRCm39)	N1468S	probably benign	Het
Abcc5	C	T	16: 20,163,446 (GRCm39)	D1264N	possibly damaging	Het
Abhd10	A	G	16: 45,553,099 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,901,569 (GRCm39)	A570E	probably damaging	Het
Adgrv1	A	G	13: 81,570,344 (GRCm39)	V4953A	possibly damaging	Het
Ano2	T	A	6: 125,992,536 (GRCm39)	Y836*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Ccdc8	T	A	7: 16,730,537 (GRCm39)	D675E	possibly damaging	Het
Ccnb2	A	G	9: 70,326,170 (GRCm39)	V58A	probably benign	Het
Cdcp3	T	A	7: 130,879,295 (GRCm39)		probably null	Het
Cdh24	A	T	14: 54,875,547 (GRCm39)	Y296N	probably damaging	Het
Cfap46	T	C	7: 139,198,266 (GRCm39)	E2054G	unknown	Het
Cnot1	A	T	8: 96,454,276 (GRCm39)	F2067I	probably damaging	Het
Csmd3	A	G	15: 47,813,334 (GRCm39)	F329S		Het
Dact3	C	A	7: 16,619,840 (GRCm39)	T445K	unknown	Het
Dph6	C	A	2: 114,485,379 (GRCm39)		probably benign	Het
Dst	T	A	1: 34,209,517 (GRCm39)	C1195S	probably damaging	Het
Eeig1	A	G	2: 32,456,346 (GRCm39)	D336G	possibly damaging	Het
Fat3	T	A	9: 15,899,620 (GRCm39)	N3138Y	probably damaging	Het
Fbxw25	T	C	9: 109,483,651 (GRCm39)	N187S		Het
Fuca1	A	G	4: 135,660,405 (GRCm39)	I308V	probably benign	Het
Galnt5	A	G	2: 57,907,222 (GRCm39)	R562G	probably damaging	Het
Gas8	G	T	8: 124,249,718 (GRCm39)	R44S	probably damaging	Het
Gja5	T	C	3: 96,958,071 (GRCm39)	S43P	possibly damaging	Het
Gm14403	A	G	2: 177,200,405 (GRCm39)	D117G	probably benign	Het
Gmpr2	G	A	14: 55,910,491 (GRCm39)	V58M	probably damaging	Het
Gtpbp6	T	A	5: 110,252,950 (GRCm39)	I301F	probably damaging	Het
H2bc22	T	A	13: 21,971,762 (GRCm39)	D26E	probably benign	Het
Hdhd5	T	C	6: 120,498,212 (GRCm39)	Y129C	probably damaging	Het
Hemgn	A	G	4: 46,396,504 (GRCm39)	M244T	probably benign	Het
Hoxa1	T	G	6: 52,135,238 (GRCm39)		probably null	Het
Iglc1	T	A	16: 18,880,551 (GRCm39)	H90L		Het
Lamb2	C	T	9: 108,366,423 (GRCm39)	S1545F	possibly damaging	Het
Mc4r	T	C	18: 66,992,580 (GRCm39)	T178A	probably benign	Het
Mcam	T	A	9: 44,050,955 (GRCm39)	S346T	probably benign	Het
Mis18bp1	A	G	12: 65,195,626 (GRCm39)	S713P	probably benign	Het
Mybl2	A	G	2: 162,914,752 (GRCm39)	Y290C	probably damaging	Het
Or4k44	T	C	2: 111,368,281 (GRCm39)	M118V	probably damaging	Het
Or7e168	A	T	9: 19,720,225 (GRCm39)	I204F	possibly damaging	Het
Pak6	A	G	2: 118,525,068 (GRCm39)	T565A	probably damaging	Het
Pde5a	A	G	3: 122,568,250 (GRCm39)	T284A	probably benign	Het
Pkd1l2	A	T	8: 117,756,384 (GRCm39)	F1616Y	probably damaging	Het
Pp2d1	T	C	17: 53,822,907 (GRCm39)	E53G	probably benign	Het
Ppp3cc	A	C	14: 70,478,394 (GRCm39)	S269R	probably benign	Het
Ptprb	A	C	10: 116,205,214 (GRCm39)	D1856A	possibly damaging	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Rnf8	T	A	17: 29,847,980 (GRCm39)	V344E	probably benign	Het
Rpn1	T	C	6: 88,061,550 (GRCm39)	L13P	possibly damaging	Het
Rsbn1	A	T	3: 103,822,326 (GRCm39)	H187L	probably benign	Het
Sdr16c6	T	A	4: 4,058,801 (GRCm39)	I262F	not run	Het
Sec22a	A	G	16: 35,149,894 (GRCm39)	F211L	probably benign	Het
Slc16a4	G	A	3: 107,205,297 (GRCm39)	A42T	possibly damaging	Het
Smap1	T	A	1: 23,887,376 (GRCm39)	Q386L	probably benign	Het
Sos1	A	T	17: 80,787,323 (GRCm39)	F10L	probably benign	Het
Sptbn2	A	G	19: 4,776,196 (GRCm39)	T202A	probably damaging	Het
Stab1	C	A	14: 30,862,578 (GRCm39)	V2282L	probably benign	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tmprss11f	C	T	5: 86,672,019 (GRCm39)	G391D	probably damaging	Het
Tnfaip2	A	G	12: 111,412,072 (GRCm39)	S158G	probably damaging	Het
Trav6d-5	A	G	14: 53,032,843 (GRCm39)	T31A	probably benign	Het
Tst	G	A	15: 78,289,903 (GRCm39)	A44V	probably damaging	Het
Vmn1r210	A	T	13: 23,011,405 (GRCm39)	F294I	probably benign	Het
Vwc2	T	C	11: 11,066,415 (GRCm39)	F168L	probably damaging	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Zfp605	A	G	5: 110,275,386 (GRCm39)	Y168C	probably benign	Het
Zfp790	T	A	7: 29,525,130 (GRCm39)	Y49*	probably null	Het
Zfp93	T	C	7: 23,975,794 (GRCm39)	F593S	probably damaging	Het
Zfr	C	T	15: 12,160,614 (GRCm39)	T729I	possibly damaging	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
R7292:Adgrb3	UTSW	1	25,570,957 (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
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'- GGAACACTTTTCAGCAAGGCTC -3'
(R):5'- AGCTCTAAAAGTTCAGCCCTG -3'

Sequencing Primer
(F):5'- TTCAGCAAGGCTCAATAAGAGTTG -3'
(R):5'- GCTCTAAAAGTTCAGCCCTGTTATG -3'

Posted On

2019-10-24