Mutagenetix > Incidental Mutation

Incidental Mutation 'R5681:Adora2b'

443056

Institutional Source

Beutler Lab

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 #

R5681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62139810-62157278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62140067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 47 (V47E)

Ref Sequence

ENSEMBL: ENSMUSP00000018644 (fasta)

Gene Model

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

AlphaFold

Q60614

Predicted Effect

probably damaging
Transcript: ENSMUST00000018644
AA Change: V47E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018644
Gene: ENSMUSG00000018500
AA Change: V47E

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

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,814,559 (GRCm39)	F45S	possibly damaging	Het
Amdhd2	A	G	17: 24,375,014 (GRCm39)	I396T	probably damaging	Het
Arhgap5	G	A	12: 52,566,562 (GRCm39)	D1178N	probably benign	Het
Atp10d	T	C	5: 72,404,289 (GRCm39)		probably benign	Het
Baiap3	A	G	17: 25,468,347 (GRCm39)	S264P	probably damaging	Het
Brinp3	A	T	1: 146,777,484 (GRCm39)	I644F	probably benign	Het
Ccdc168	A	T	1: 44,100,624 (GRCm39)	V158D	possibly damaging	Het
Ccdc66	T	C	14: 27,208,698 (GRCm39)	R675G	probably benign	Het
Cnr2	T	G	4: 135,644,000 (GRCm39)	M26R	probably damaging	Het
Col6a2	A	T	10: 76,445,085 (GRCm39)		probably null	Het
Cux1	A	G	5: 136,337,038 (GRCm39)	W696R	probably damaging	Het
D6Ertd527e	A	G	6: 87,088,188 (GRCm39)	N117S	unknown	Het
Dnah12	T	C	14: 26,537,452 (GRCm39)	C2234R	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock2	T	G	11: 34,199,836 (GRCm39)	I1405L	probably benign	Het
Dsg1c	T	C	18: 20,416,270 (GRCm39)	F724L	probably damaging	Het
Elapor2	T	A	5: 9,509,308 (GRCm39)		probably null	Het
Enoph1	T	C	5: 100,210,136 (GRCm39)		probably null	Het
Epha10	A	T	4: 124,796,359 (GRCm39)	Q356L	unknown	Het
Fbln2	G	T	6: 91,248,778 (GRCm39)	V1148L	probably damaging	Het
Firrm	T	C	1: 163,789,654 (GRCm39)	N627S	probably damaging	Het
Gp2	C	T	7: 119,051,517 (GRCm39)	V233M	possibly damaging	Het
Gtf2ird1	T	A	5: 134,392,172 (GRCm39)	S800C	probably damaging	Het
Hat1	A	G	2: 71,264,553 (GRCm39)		probably null	Het
Hpdl	A	T	4: 116,678,039 (GRCm39)	S141T	probably benign	Het
Klhl29	A	G	12: 5,140,669 (GRCm39)	S658P	possibly damaging	Het
Lifr	T	A	15: 7,220,565 (GRCm39)	I1065N	probably damaging	Het
Lrrn2	G	T	1: 132,864,899 (GRCm39)		probably benign	Het
Marchf9	T	A	10: 126,894,172 (GRCm39)	I144F	probably benign	Het
Mtnr1a	A	G	8: 45,540,974 (GRCm39)	I312V	possibly damaging	Het
Ngf	T	A	3: 102,427,669 (GRCm39)	F139L	probably damaging	Het
Nipbl	T	C	15: 8,330,866 (GRCm39)	I2318V	probably benign	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nphs1	A	G	7: 30,186,050 (GRCm39)	D1227G	probably benign	Het
Olfm3	C	A	3: 114,915,924 (GRCm39)	N285K	probably benign	Het
Or1j1	C	A	2: 36,702,693 (GRCm39)	S137I	probably benign	Het
Or4f60	T	A	2: 111,902,722 (GRCm39)	I69F	probably benign	Het
Or7g35	G	A	9: 19,496,195 (GRCm39)	D121N	probably damaging	Het
Or8b12i	A	G	9: 20,082,091 (GRCm39)	Y259H	probably damaging	Het
Or8b39	C	T	9: 37,996,927 (GRCm39)	S265F	possibly damaging	Het
Osbp2	A	G	11: 3,813,486 (GRCm39)	S128P	probably benign	Het
Otop2	A	T	11: 115,217,685 (GRCm39)	M174L	probably damaging	Het
Pard3	A	G	8: 128,115,914 (GRCm39)	T668A	possibly damaging	Het
Pkhd1	T	C	1: 20,617,685 (GRCm39)	T967A	possibly damaging	Het
Pls1	A	G	9: 95,669,065 (GRCm39)	V52A	probably damaging	Het
Ptcd3	T	C	6: 71,884,643 (GRCm39)	K64R	probably damaging	Het
Pxn	T	C	5: 115,682,593 (GRCm39)	W69R	possibly damaging	Het
Rai14	T	C	15: 10,575,206 (GRCm39)	D584G	probably damaging	Het
Safb	G	A	17: 56,906,000 (GRCm39)		probably benign	Het
Serinc2	A	C	4: 130,158,869 (GRCm39)	L10R	probably damaging	Het
Serpinb12	A	T	1: 106,874,431 (GRCm39)	H52L	probably benign	Het
Serpinb9h	G	A	13: 33,579,812 (GRCm39)	C20Y	probably damaging	Het
Serpinf2	A	G	11: 75,326,765 (GRCm39)	Y273H	probably damaging	Het
Slc2a10	T	A	2: 165,356,660 (GRCm39)	S107T	probably benign	Het
Slc41a3	T	C	6: 90,617,928 (GRCm39)	L318P	probably damaging	Het
Slc6a3	A	T	13: 73,686,854 (GRCm39)	I74F	probably damaging	Het
Snrnp200	G	A	2: 127,067,055 (GRCm39)	G788D	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sox11	G	T	12: 27,391,823 (GRCm39)	D195E	probably benign	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Tab2	A	G	10: 7,795,837 (GRCm39)	I215T	probably damaging	Het
Ttn	C	T	2: 76,660,942 (GRCm39)	V7422I	possibly damaging	Het
Unc13c	A	T	9: 73,453,357 (GRCm39)		probably null	Het
Wdr17	T	C	8: 55,115,904 (GRCm39)	D633G	probably damaging	Het
Wdsub1	A	T	2: 59,683,239 (GRCm39)	M445K	probably damaging	Het
Xpc	A	G	6: 91,481,102 (GRCm39)	F257L	probably damaging	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
IGL02792:Adora2b	APN	11	62,156,309 (GRCm39)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTCGAGGTGTCTTTCC -3'
(R):5'- AGATATCGGTCGACAGCCAC -3'

Sequencing Primer
(F):5'- ACCCTAGCAGCTGTCCTGAG -3'
(R):5'- CAGCCACCGCCAAGAGG -3'

Posted On

2016-11-09