Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Adora2b'

359781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adora2b

Ensembl Gene

ENSMUSG00000018500

Gene Name

adenosine A2b receptor

Synonyms

A2b, A2BAR, A2BR, AA2BR, A2b, Rs, ARA2B

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

62139810-62157278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62156309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 253 (I253F)

Ref Sequence

ENSEMBL: ENSMUSP00000018644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018644] [ENSMUST00000072916]

AlphaFold

Q60614

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018644
AA Change: I253F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018644
Gene: ENSMUSG00000018500
AA Change: I253F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	15	308	1.1e-11	PFAM
Pfam:7TM_GPCR_Srsx	18	305	1.4e-13	PFAM
Pfam:7tm_1	24	290	3.8e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072916

SMART Domains

Protein: ENSMUSP00000072688
Gene: ENSMUSG00000014243

Domain	Start	End	E-Value	Type
Pfam:SWIM	66	114	1.7e-10	PFAM

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 an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in low-grade inflammation, augmentation of proinflammatory cytokines and increased leukocyte adhesion to the vasculature. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,401,107 (GRCm39)	V131M	probably benign	Het
Abca6	A	T	11: 110,079,507 (GRCm39)	C1216S	probably damaging	Het
Acly	T	C	11: 100,369,236 (GRCm39)	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,282,163 (GRCm39)		probably null	Het
Adgrb1	C	A	15: 74,419,471 (GRCm39)	L771I	probably damaging	Het
Adh7	A	T	3: 137,929,498 (GRCm39)	K89I	probably damaging	Het
Akna	G	A	4: 63,295,943 (GRCm39)	P975S	possibly damaging	Het
Alg9	T	C	9: 50,754,048 (GRCm39)	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,761,218 (GRCm39)	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,563,058 (GRCm39)	S908T	probably benign	Het
Atp1a4	C	T	1: 172,054,866 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,582,573 (GRCm39)	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,265,995 (GRCm39)	F1312L	probably benign	Het
Cfap65	A	C	1: 74,966,337 (GRCm39)	F330C	probably damaging	Het
Col27a1	C	T	4: 63,233,820 (GRCm39)	P689S	unknown	Het
Col4a3	A	T	1: 82,696,524 (GRCm39)	K1643N	probably damaging	Het
Dop1b	T	A	16: 93,598,460 (GRCm39)	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,761,082 (GRCm39)		probably benign	Het
Ergic3	C	A	2: 155,859,770 (GRCm39)	T357K	probably damaging	Het
Glra1	A	T	11: 55,427,226 (GRCm39)	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,001,018 (GRCm39)	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,236,602 (GRCm39)	S382P	probably damaging	Het
Kat6a	G	A	8: 23,428,316 (GRCm39)	E1224K	probably damaging	Het
Klk13	A	G	7: 43,370,838 (GRCm39)	E29G	possibly damaging	Het
Klra9	T	C	6: 130,165,643 (GRCm39)	D124G	probably benign	Het
Lrmda	T	C	14: 22,069,978 (GRCm39)		probably null	Het
Ltbp1	G	A	17: 75,589,989 (GRCm39)	V539M	probably damaging	Het
Ngfr	A	C	11: 95,462,687 (GRCm39)	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,502,348 (GRCm39)	H151Q	probably damaging	Het
Nnt	A	G	13: 119,494,182 (GRCm39)	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,686,535 (GRCm39)	V158M	probably damaging	Het
Or11i1	T	C	3: 106,729,456 (GRCm39)	T140A	probably damaging	Het
Or2d36	T	C	7: 106,747,425 (GRCm39)	F301L	probably benign	Het
Or7g16	C	T	9: 18,727,254 (GRCm39)	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,133,850 (GRCm39)	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,172,393 (GRCm39)	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,636,938 (GRCm39)	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,722 (GRCm39)	V73A	probably damaging	Het
Relb	A	T	7: 19,347,789 (GRCm39)	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,383,018 (GRCm39)	L382*	probably null	Het
Setd1a	C	T	7: 127,390,522 (GRCm39)	S523F	unknown	Het
Slamf8	A	G	1: 172,415,697 (GRCm39)	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,206,193 (GRCm39)	A88T	probably benign	Het
Sox6	C	T	7: 115,140,884 (GRCm39)	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,512,165 (GRCm39)	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,935,918 (GRCm39)	D1710A	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,070,739 (GRCm39)	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,659,014 (GRCm39)	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,414,228 (GRCm39)	M1V	probably null	Het
Wdfy4	T	C	14: 32,817,262 (GRCm39)	I1561V	probably benign	Het
Xkr9	A	G	1: 13,771,027 (GRCm39)	D181G	probably damaging	Het
Zfp318	T	C	17: 46,720,104 (GRCm39)	F1101L	probably damaging	Het
Zfpm2	C	A	15: 40,966,409 (GRCm39)	Q833K	probably benign	Het

Other mutations in Adora2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Adora2b	APN	11	62,156,010 (GRCm39)	missense	possibly damaging	0.88
IGL02721:Adora2b	APN	11	62,155,931 (GRCm39)	missense	probably damaging	1.00
R0684:Adora2b	UTSW	11	62,139,995 (GRCm39)	missense	probably benign	0.00
R1491:Adora2b	UTSW	11	62,156,363 (GRCm39)	missense	probably benign	0.04
R4632:Adora2b	UTSW	11	62,156,208 (GRCm39)	frame shift	probably null
R5681:Adora2b	UTSW	11	62,140,067 (GRCm39)	missense	probably damaging	0.97
R7514:Adora2b	UTSW	11	62,156,146 (GRCm39)	missense	probably damaging	1.00
R7733:Adora2b	UTSW	11	62,156,165 (GRCm39)	missense	possibly damaging	0.86
R8403:Adora2b	UTSW	11	62,140,141 (GRCm39)	missense	probably damaging	0.96
R8963:Adora2b	UTSW	11	62,139,983 (GRCm39)	missense	possibly damaging	0.81
R9135:Adora2b	UTSW	11	62,155,886 (GRCm39)	critical splice acceptor site	probably null
R9580:Adora2b	UTSW	11	62,156,145 (GRCm39)	missense	probably damaging	1.00
Z1177:Adora2b	UTSW	11	62,140,252 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18