Mutagenetix > Incidental Mutation

Incidental Mutation 'R6153:Adora2a'

489398

Institutional Source

Beutler Lab

Gene Symbol

Adora2a

Ensembl Gene

ENSMUSG00000020178

Gene Name

adenosine A2a receptor

Synonyms

A2aR, AA2AR, A2a, Rs, A2AAR, ARA2A

MMRRC Submission

044300-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75152711-75170618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75161981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 40 (F40S)

Ref Sequence

ENSEMBL: ENSMUSP00000101060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105420] [ENSMUST00000217703] [ENSMUST00000219044] [ENSMUST00000219322]

AlphaFold

Q60613

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105420
AA Change: F40S

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101060
Gene: ENSMUSG00000020178
AA Change: F40S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217703

Predicted Effect

probably benign
Transcript: ENSMUST00000219044
AA Change: F40S

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000219322

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

99% (66/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,251,259 (GRCm39)		probably null	Het
Ache	T	C	5: 137,290,117 (GRCm39)	I394T	probably damaging	Het
Acsm1	G	A	7: 119,232,289 (GRCm39)	G62D	probably damaging	Het
Actrt3	T	A	3: 30,653,899 (GRCm39)	I34F	probably damaging	Het
Adgrf5	T	C	17: 43,761,974 (GRCm39)	I1223T	possibly damaging	Het
Ano8	T	C	8: 71,933,441 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,293,107 (GRCm39)	L675Q	probably damaging	Het
Atg2b	T	C	12: 105,589,741 (GRCm39)	I1837V	possibly damaging	Het
Atp10b	A	G	11: 43,145,109 (GRCm39)	Y1284C	probably damaging	Het
B3gnt7	G	T	1: 86,233,237 (GRCm39)	G44V	probably damaging	Het
Chrna1	G	T	2: 73,403,653 (GRCm39)	H99N	probably benign	Het
Cnksr1	T	C	4: 133,961,204 (GRCm39)	H220R	probably damaging	Het
Cpsf2	T	A	12: 101,965,619 (GRCm39)		probably null	Het
Daglb	T	C	5: 143,489,096 (GRCm39)	L651P	probably benign	Het
Ddx60	A	G	8: 62,398,974 (GRCm39)	D231G	possibly damaging	Het
Ehd4	A	C	2: 119,932,904 (GRCm39)	F174C	probably damaging	Het
Emsy	G	T	7: 98,260,060 (GRCm39)	P9T	probably damaging	Het
Fnbp1l	T	C	3: 122,352,805 (GRCm39)	E217G	probably benign	Het
Gm11596	A	T	11: 99,683,524 (GRCm39)	C199S	unknown	Het
Gmps	T	G	3: 63,908,964 (GRCm39)	C489G	probably benign	Het
Gpsm1	T	C	2: 26,215,425 (GRCm39)	Y296H	probably benign	Het
Heatr5b	T	C	17: 79,138,870 (GRCm39)	T91A	possibly damaging	Het
Hs3st3b1	A	T	11: 63,780,324 (GRCm39)	W268R	probably damaging	Het
Il27ra	T	C	8: 84,758,773 (GRCm39)		probably null	Het
Itga5	T	A	15: 103,265,880 (GRCm39)	I156F	probably damaging	Het
Kcnmb3	T	A	3: 32,527,976 (GRCm39)	D96V	probably damaging	Het
Khdrbs1	T	A	4: 129,609,965 (GRCm39)	N417Y	probably damaging	Het
Loxhd1	A	G	18: 77,383,454 (GRCm39)	N118D	possibly damaging	Het
Mdm4	A	G	1: 132,919,845 (GRCm39)	L341P	probably damaging	Het
Mecom	T	C	3: 30,047,797 (GRCm39)	E225G	possibly damaging	Het
Megf8	G	A	7: 25,046,796 (GRCm39)	G1560S	possibly damaging	Het
Mfsd13a	A	T	19: 46,356,321 (GRCm39)	D142V	probably damaging	Het
Muc5b	A	T	7: 141,415,181 (GRCm39)	Y2709F	possibly damaging	Het
Nelfa	A	T	5: 34,056,223 (GRCm39)	I480N	probably damaging	Het
Or10ak8	G	A	4: 118,773,944 (GRCm39)	S240F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Palld	G	T	8: 62,003,186 (GRCm39)	N304K	probably damaging	Het
Pcsk5	A	G	19: 17,488,856 (GRCm39)	L988P	probably damaging	Het
Prmt1	A	T	7: 44,631,251 (GRCm39)	F34I	probably damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Ralb	A	T	1: 119,405,870 (GRCm39)		probably null	Het
Robo2	T	A	16: 73,717,617 (GRCm39)	D141V	probably damaging	Het
Rsrc1	T	C	3: 67,262,895 (GRCm39)	I283T	probably benign	Het
Sec62	A	T	3: 30,864,631 (GRCm39)	K165M	unknown	Het
Sez6	A	G	11: 77,868,648 (GRCm39)	D974G	probably damaging	Het
Shc2	T	A	10: 79,465,752 (GRCm39)	I187F	possibly damaging	Het
Shroom3	G	A	5: 93,112,267 (GRCm39)	R1876Q	probably damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Skil	T	A	3: 31,152,002 (GRCm39)	F175I	probably damaging	Het
Slc1a1	T	C	19: 28,886,935 (GRCm39)	V432A	probably damaging	Het
Slit3	G	T	11: 35,591,310 (GRCm39)	G1374V	possibly damaging	Het
Snx14	T	C	9: 88,273,859 (GRCm39)	Y644C	probably damaging	Het
Snx33	T	A	9: 56,833,983 (GRCm39)	I29F	possibly damaging	Het
Sos1	T	A	17: 80,756,764 (GRCm39)	I263L	probably benign	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tbpl2	C	A	2: 23,966,028 (GRCm39)	V320F	probably damaging	Het
Tmem209	A	G	6: 30,505,794 (GRCm39)	S171P	probably benign	Het
Tprkb	T	A	6: 85,893,172 (GRCm39)		probably null	Het
Tspan11	G	A	6: 127,916,061 (GRCm39)	S119N	probably benign	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp976	A	C	7: 42,263,610 (GRCm39)	Y76D	probably damaging	Het
Zkscan2	G	A	7: 123,088,993 (GRCm39)	T426I	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
R6306:Adora2a	UTSW	10	75,169,238 (GRCm39)	missense	probably damaging	1.00
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'- TCTTGTGAGGAAAGGGCTGC -3'
(R):5'- CGATGTATCTGTCGATGGCAATAGC -3'

Sequencing Primer
(F):5'- CAGCTATGGACCGAGAGCTG -3'
(R):5'- CCAAGAGGCTGAAGATGGAACTC -3'

Posted On

2017-10-10