Mutagenetix > Incidental Mutation

Incidental Mutation 'R6306:Adora2a'

509677

Institutional Source

Beutler Lab

Gene Symbol

Adora2a

Ensembl Gene

ENSMUSG00000020178

Gene Name

adenosine A2a receptor

Synonyms

A2aR, AA2AR, A2a, Rs, A2AAR, ARA2A

MMRRC Submission

044468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6306 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75152711-75170618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75169238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 234 (V234E)

Ref Sequence

ENSEMBL: ENSMUSP00000101060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105420]

AlphaFold

Q60613

Predicted Effect

probably damaging
Transcript: ENSMUST00000105420
AA Change: V234E

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

SMART Domains

Protein: ENSMUSP00000101060
Gene: ENSMUSG00000020178
AA Change: V234E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	11	301	1.9e-9	PFAM
Pfam:7TM_GPCR_Srsx	14	298	5.1e-15	PFAM
Pfam:7tm_1	20	283	3.1e-62	PFAM
low complexity region	355	371	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are viable and fertile with reduced exploratory activity and displaying depressive rather than stimulatory response to caffeine. Mutants test more anxious, were more aggressive towards intruders, and slower to respond to pain stimuli. Blood pressure and heart rate are increased, as well as platelet aggregation rate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	A	9: 90,060,331 (GRCm39)		probably null	Het
Alpk1	T	C	3: 127,479,965 (GRCm39)	D188G	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ankrd17	A	G	5: 90,392,013 (GRCm39)	F1886L	probably benign	Het
Anks1	T	G	17: 28,269,613 (GRCm39)	L769R	probably damaging	Het
Apol10a	A	G	15: 77,373,161 (GRCm39)	I266V	probably benign	Het
Arhgef28	T	C	13: 98,121,896 (GRCm39)	Y556C	probably damaging	Het
Brd8	T	A	18: 34,744,304 (GRCm39)	T175S	probably damaging	Het
Camsap2	C	T	1: 136,208,937 (GRCm39)	V852I	probably benign	Het
Cd55b	G	T	1: 130,341,803 (GRCm39)	P278Q	probably damaging	Het
Cep290	T	A	10: 100,367,028 (GRCm39)	S1126R	possibly damaging	Het
Cfh	C	T	1: 140,030,155 (GRCm39)	C906Y	probably damaging	Het
Chst13	C	A	6: 90,286,260 (GRCm39)	R234L	probably damaging	Het
Clcn7	T	C	17: 25,376,502 (GRCm39)	F611L	probably benign	Het
Cntnap1	A	G	11: 101,075,441 (GRCm39)	D873G	probably damaging	Het
Cntnap5b	T	C	1: 100,091,871 (GRCm39)	I518T	probably damaging	Het
Col28a1	T	C	6: 8,014,969 (GRCm39)	E812G	probably damaging	Het
Cpa1	T	C	6: 30,640,953 (GRCm39)	I148T	probably damaging	Het
Cyp11a1	A	G	9: 57,932,383 (GRCm39)	N232S	probably benign	Het
Dhrs13	A	G	11: 77,923,519 (GRCm39)	D79G	probably damaging	Het
Disp1	T	C	1: 182,868,712 (GRCm39)	E1236G	possibly damaging	Het
Dnah1	A	C	14: 31,026,544 (GRCm39)	L778R	probably damaging	Het
Dnah14	CTGTG	CTG	1: 181,412,589 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dock9	A	T	14: 121,799,492 (GRCm39)	I1729N	probably damaging	Het
Dysf	T	C	6: 84,114,248 (GRCm39)	V1192A	possibly damaging	Het
Enpp2	A	G	15: 54,762,742 (GRCm39)	S169P	probably damaging	Het
Fam114a2	T	G	11: 57,404,972 (GRCm39)	R43S	probably damaging	Het
Fam13a	T	C	6: 58,917,239 (GRCm39)	T546A	probably benign	Het
Fos	A	T	12: 85,522,460 (GRCm39)	D163V	probably damaging	Het
Fras1	T	C	5: 96,912,805 (GRCm39)	Y3370H	probably damaging	Het
Fshr	T	C	17: 89,507,961 (GRCm39)	N27S	probably null	Het
Galnt6	A	G	15: 100,591,305 (GRCm39)	S600P	possibly damaging	Het
Gars1	T	A	6: 55,032,809 (GRCm39)	N260K	probably damaging	Het
Gpr158	C	G	2: 21,820,422 (GRCm39)	P640A	possibly damaging	Het
Grep1	T	C	17: 23,925,124 (GRCm39)	N495S	possibly damaging	Het
Grik3	A	G	4: 125,526,205 (GRCm39)	D146G	probably benign	Het
Hdac4	T	C	1: 91,923,896 (GRCm39)	T205A	probably benign	Het
Kcnq3	T	C	15: 65,876,643 (GRCm39)	D500G	probably benign	Het
Kmt5c	A	G	7: 4,749,480 (GRCm39)	K333E	probably benign	Het
Krt81	A	G	15: 101,357,404 (GRCm39)	S443P	probably benign	Het
M6pr	T	C	6: 122,292,121 (GRCm39)		probably null	Het
Mccc2	T	A	13: 100,130,085 (GRCm39)	I91L	probably benign	Het
Nip7	A	G	8: 107,785,055 (GRCm39)	D110G	probably damaging	Het
Nol8	T	A	13: 49,829,829 (GRCm39)	F1093I	probably damaging	Het
Nrxn1	T	C	17: 90,872,874 (GRCm39)	T1027A	possibly damaging	Het
Ofcc1	T	A	13: 40,302,052 (GRCm39)	M495L	probably benign	Het
Or13p10	A	T	4: 118,523,490 (GRCm39)	M259L	probably benign	Het
Or7e178	A	G	9: 20,225,742 (GRCm39)	M158T	probably benign	Het
Pafah1b2	A	T	9: 45,886,425 (GRCm39)	V81D	probably damaging	Het
Pcdhga4	A	T	18: 37,818,966 (GRCm39)	S172C	probably damaging	Het
Pds5a	A	G	5: 65,813,639 (GRCm39)	V282A	probably damaging	Het
Plat	A	G	8: 23,262,282 (GRCm39)	D102G	possibly damaging	Het
Plce1	C	A	19: 38,757,909 (GRCm39)	Q1961K	probably damaging	Het
Plppr3	T	A	10: 79,697,566 (GRCm39)	K444*	probably null	Het
Plscr3	A	G	11: 69,738,472 (GRCm39)		probably null	Het
Prtg	A	T	9: 72,813,468 (GRCm39)	T943S	probably benign	Het
Racgap1	A	G	15: 99,521,834 (GRCm39)	F519L	probably benign	Het
Rbms2	A	T	10: 127,987,050 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,237 (GRCm39)	T476A	possibly damaging	Het
Rnf150	T	A	8: 83,810,131 (GRCm39)	L421Q	possibly damaging	Het
Sema3b	A	G	9: 107,478,119 (GRCm39)	L422P	possibly damaging	Het
Shank2	G	A	7: 143,963,417 (GRCm39)	A921T	probably benign	Het
Skint3	A	T	4: 112,113,072 (GRCm39)	E227D	probably damaging	Het
Slc25a19	G	A	11: 115,508,386 (GRCm39)	R201C	possibly damaging	Het
Slc38a10	G	T	11: 120,038,645 (GRCm39)	A40D	probably damaging	Het
Slc5a4b	T	C	10: 75,917,185 (GRCm39)	T284A	probably benign	Het
Smc1b	A	T	15: 85,011,824 (GRCm39)	F154I	probably benign	Het
Spry2	A	T	14: 106,130,418 (GRCm39)	M256K	possibly damaging	Het
Stkld1	C	T	2: 26,833,899 (GRCm39)	P129S	probably damaging	Het
Syce2	T	C	8: 85,599,371 (GRCm39)	L13S	possibly damaging	Het
Tbc1d15	C	A	10: 115,069,148 (GRCm39)	V74L	possibly damaging	Het
Tecpr2	T	A	12: 110,911,185 (GRCm39)	V1074D	probably damaging	Het
Tex36	G	A	7: 133,197,054 (GRCm39)	T21I	probably benign	Het
Ttn	T	G	2: 76,554,454 (GRCm39)	D30787A	probably damaging	Het
Ttn	T	A	2: 76,622,264 (GRCm39)	Q13710L	probably benign	Het
Usp34	T	C	11: 23,362,260 (GRCm39)	F1569L	possibly damaging	Het
Vat1l	C	T	8: 115,098,391 (GRCm39)	A387V	probably damaging	Het
Vil1	G	A	1: 74,460,470 (GRCm39)	G209D	possibly damaging	Het
Vmn1r113	G	T	7: 20,521,792 (GRCm39)	D195Y	probably damaging	Het
Vmn2r69	A	C	7: 85,064,799 (GRCm39)	I29R	probably benign	Het
Vti1b	G	A	12: 79,207,323 (GRCm39)	Q76*	probably null	Het
Zfp423	C	A	8: 88,508,662 (GRCm39)	V540F	possibly damaging	Het
Zfp644	T	C	5: 106,785,990 (GRCm39)	N186D	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp787	G	A	7: 6,135,360 (GRCm39)	A297V	probably damaging	Het
Zfp827	G	T	8: 79,787,324 (GRCm39)	Q163H	probably damaging	Het
Zfp955b	T	A	17: 33,522,160 (GRCm39)	V543E	probably benign	Het

Other mutations in Adora2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Adora2a	APN	10	75,169,285 (GRCm39)	missense	probably damaging	0.99
IGL01298:Adora2a	APN	10	75,169,326 (GRCm39)	missense	probably damaging	1.00
R1217:Adora2a	UTSW	10	75,169,049 (GRCm39)	missense	probably damaging	1.00
R1983:Adora2a	UTSW	10	75,169,480 (GRCm39)	missense	probably benign	0.04
R2329:Adora2a	UTSW	10	75,162,017 (GRCm39)	missense	probably damaging	1.00
R4808:Adora2a	UTSW	10	75,169,280 (GRCm39)	missense	probably damaging	1.00
R4884:Adora2a	UTSW	10	75,161,879 (GRCm39)	missense	probably null	0.99
R5056:Adora2a	UTSW	10	75,161,992 (GRCm39)	missense	probably damaging	1.00
R5250:Adora2a	UTSW	10	75,161,882 (GRCm39)	missense	probably damaging	1.00
R6153:Adora2a	UTSW	10	75,161,981 (GRCm39)	missense	possibly damaging	0.78
R6746:Adora2a	UTSW	10	75,169,442 (GRCm39)	missense	probably benign	0.12
R7047:Adora2a	UTSW	10	75,162,145 (GRCm39)	missense	probably damaging	1.00
R7493:Adora2a	UTSW	10	75,169,423 (GRCm39)	missense	possibly damaging	0.92
R7792:Adora2a	UTSW	10	75,169,480 (GRCm39)	missense	probably benign	0.00
R8824:Adora2a	UTSW	10	75,162,013 (GRCm39)	missense	probably damaging	1.00
R8941:Adora2a	UTSW	10	75,169,559 (GRCm39)	nonsense	probably null
RF004:Adora2a	UTSW	10	75,168,988 (GRCm39)	missense	probably benign	0.00
X0017:Adora2a	UTSW	10	75,169,397 (GRCm39)	missense	probably damaging	1.00
Z1176:Adora2a	UTSW	10	75,169,162 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTGAGGACGTGGTACCCATG -3'
(R):5'- AGAAGCTCTACATCCCCAGG -3'

Sequencing Primer
(F):5'- TTGAGGACGTGGTACCCATGAATTAC -3'
(R):5'- ATTGGCCCATACTCCCAGG -3'

Posted On

2018-04-02