Mutagenetix > Incidental Mutation

Incidental Mutation 'R7290:Adra2a'

566372

Institutional Source

Beutler Lab

Gene Symbol

Adra2a

Ensembl Gene

ENSMUSG00000033717

Gene Name

adrenergic receptor, alpha 2a

Synonyms

alpha2A-adrenergic receptor, Adra-2, alpha2A-AR, alpha(2A)AR, alpha2A, Adra-2a

MMRRC Submission

045362-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54033690-54037413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54034835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 64 (F64L)

Ref Sequence

ENSEMBL: ENSMUSP00000036203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036700]

AlphaFold

Q01338

Predicted Effect

probably damaging
Transcript: ENSMUST00000036700
AA Change: F64L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036203
Gene: ENSMUSG00000033717
AA Change: F64L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	55	237	1.5e-7	PFAM
Pfam:7TM_GPCR_Srx	56	188	2.5e-6	PFAM
Pfam:7TM_GPCR_Srsx	59	245	3.7e-7	PFAM
Pfam:7tm_1	65	441	1.5e-73	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene fail to produce hypotensive responsiveness to alpha2AR agonists, including failure to inhibit voltage-gated Ca2+ currents and spontaneous neuronal firing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,921,714 (GRCm39)	M1447L	probably benign	Het
Adam30	G	A	3: 98,070,257 (GRCm39)	V697I	probably benign	Het
Adamts12	A	G	15: 11,277,452 (GRCm39)	N689D	probably benign	Het
Adamts15	T	C	9: 30,813,906 (GRCm39)	K753R	probably benign	Het
Ankub1	A	G	3: 57,580,345 (GRCm39)	L104P	probably damaging	Het
Arel1	A	G	12: 84,988,719 (GRCm39)	V10A	probably benign	Het
Atad2	A	T	15: 57,962,047 (GRCm39)	N1165K	probably benign	Het
Atp6v0d2	T	A	4: 19,880,060 (GRCm39)	D279V	probably benign	Het
Cadps	A	T	14: 12,616,099 (GRCm38)	D310E	probably damaging	Het
Caskin2	T	C	11: 115,695,615 (GRCm39)	I249V	possibly damaging	Het
Cdh23	T	C	10: 60,212,620 (GRCm39)	N1598S	probably benign	Het
Cep250	A	T	2: 155,834,682 (GRCm39)	Q2202H	probably benign	Het
Ces5a	T	A	8: 94,261,311 (GRCm39)	T35S	probably damaging	Het
Cnot11	G	A	1: 39,579,020 (GRCm39)	W295*	probably null	Het
Cntnap5a	G	T	1: 116,149,619 (GRCm39)	W565L	probably damaging	Het
Dgka	T	C	10: 128,569,468 (GRCm39)	E148G	probably damaging	Het
Dnah14	G	A	1: 181,455,739 (GRCm39)	D955N	probably benign	Het
Erbin	G	A	13: 103,998,834 (GRCm39)	T184I	probably damaging	Het
Fam20c	G	T	5: 138,793,309 (GRCm39)	G477W	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgfr4	T	C	13: 55,309,262 (GRCm39)	V433A	probably benign	Het
Gal3st1	A	T	11: 3,948,093 (GRCm39)	Q100L	possibly damaging	Het
Gfra2	T	C	14: 71,163,380 (GRCm39)	F221S	probably damaging	Het
Gm19965	G	A	1: 116,748,921 (GRCm39)	V201M		Het
Gnb1l	A	T	16: 18,382,806 (GRCm39)	T282S	probably benign	Het
Gpr171	A	T	3: 59,005,147 (GRCm39)	N209K	probably benign	Het
Greb1	G	A	12: 16,761,739 (GRCm39)	T547I	probably damaging	Het
Ifi214	A	T	1: 173,357,097 (GRCm39)	V2E	probably benign	Het
Ighv1-71	T	C	12: 115,706,267 (GRCm39)	M1V	probably null	Het
Itm2b	C	T	14: 73,605,785 (GRCm39)	G67D	probably damaging	Het
Kif21a	A	T	15: 90,851,432 (GRCm39)	C995*	probably null	Het
Kifc2	A	T	15: 76,544,904 (GRCm39)	Y13F	probably damaging	Het
Lamb1	T	A	12: 31,315,595 (GRCm39)	V59D	probably benign	Het
Lhx1	A	T	11: 84,412,703 (GRCm39)	D163E	probably damaging	Het
Lrrc1	A	T	9: 77,365,121 (GRCm39)	Y187N	probably benign	Het
Map3k1	C	A	13: 111,904,645 (GRCm39)	V380F	probably damaging	Het
Mapk11	T	C	15: 89,028,511 (GRCm39)	D283G	probably damaging	Het
Mccc2	G	T	13: 100,091,207 (GRCm39)	A430D	probably damaging	Het
Mest	A	G	6: 30,747,158 (GRCm39)	N340S	unknown	Het
Mms22l	T	C	4: 24,517,139 (GRCm39)	L340P	probably benign	Het
Mrnip	A	G	11: 50,087,808 (GRCm39)	Y110C	possibly damaging	Het
Mtmr4	A	G	11: 87,502,063 (GRCm39)	T706A	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Ncstn	A	G	1: 171,900,373 (GRCm39)	F234S	probably benign	Het
Nrp1	T	C	8: 129,202,777 (GRCm39)		probably null	Het
Nup37	T	G	10: 88,010,356 (GRCm39)	C217G	probably damaging	Het
Or8g22	A	G	9: 38,958,694 (GRCm39)	L7P	unknown	Het
Pdzrn3	T	C	6: 101,128,206 (GRCm39)	N820S	probably benign	Het
Pgap1	A	T	1: 54,587,225 (GRCm39)	F117Y	possibly damaging	Het
Phip	A	T	9: 82,753,346 (GRCm39)	F1799L	possibly damaging	Het
Ppm1f	T	A	16: 16,728,819 (GRCm39)	F74I	probably benign	Het
Prpf8	C	A	11: 75,384,783 (GRCm39)	N775K	possibly damaging	Het
Ptdss2	T	C	7: 140,731,693 (GRCm39)	I167T	possibly damaging	Het
Ptpn18	G	A	1: 34,501,892 (GRCm39)		probably null	Het
Rbl2	C	A	8: 91,841,669 (GRCm39)	A955D	probably benign	Het
Rgl1	A	G	1: 152,420,146 (GRCm39)	S366P	possibly damaging	Het
Rit2	A	T	18: 31,376,221 (GRCm39)	M38K	possibly damaging	Het
Robo1	A	G	16: 72,801,408 (GRCm39)	M1011V	probably benign	Het
Senp6	A	T	9: 80,043,797 (GRCm39)	E809D	probably benign	Het
Stard3	G	A	11: 98,269,045 (GRCm39)		probably null	Het
Taar3	T	G	10: 23,826,298 (GRCm39)	Y281*	probably null	Het
Tacc2	G	T	7: 130,331,103 (GRCm39)	K352N	probably benign	Het
Tamalin	G	A	15: 101,129,419 (GRCm39)	S234N	probably damaging	Het
Tasor	T	A	14: 27,160,610 (GRCm39)	I124N	probably damaging	Het
Tdpoz4	G	A	3: 93,704,155 (GRCm39)	V151I	not run	Het
Tenm2	A	G	11: 35,914,298 (GRCm39)	L2413P	probably damaging	Het
Tgm6	T	C	2: 129,983,110 (GRCm39)	V233A	probably damaging	Het
Tlx3	G	A	11: 33,153,514 (GRCm39)		probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trim23	C	A	13: 104,323,941 (GRCm39)	H133Q	probably damaging	Het
Unc80	A	T	1: 66,640,356 (GRCm39)	D1421V	probably damaging	Het
Vmn1r172	A	G	7: 23,360,048 (GRCm39)	N311S	unknown	Het
Vps25	T	A	11: 101,149,775 (GRCm39)	L153Q	probably damaging	Het
Wbp1l	G	T	19: 46,611,876 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,970,558 (GRCm39)	I291V	possibly damaging	Het
Zfp2	A	G	11: 50,791,570 (GRCm39)	C158R	probably damaging	Het
Zfp786	G	A	6: 47,796,929 (GRCm39)	P670S	probably damaging	Het
Zfp827	G	A	8: 79,916,442 (GRCm39)	R339H	possibly damaging	Het
Zmym6	C	T	4: 127,017,294 (GRCm39)	A1025V	possibly damaging	Het

Other mutations in Adra2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
splenda	UTSW	19	54,034,926 (GRCm39)	missense	probably damaging	1.00
splenda2	UTSW	19	54,035,070 (GRCm39)	missense	probably damaging	1.00
R0245:Adra2a	UTSW	19	54,035,840 (GRCm39)	missense	probably damaging	1.00
R1933:Adra2a	UTSW	19	54,034,837 (GRCm39)	missense	probably damaging	1.00
R2175:Adra2a	UTSW	19	54,034,793 (GRCm39)	missense	probably benign	0.04
R4553:Adra2a	UTSW	19	54,035,166 (GRCm39)	missense	possibly damaging	0.86
R4781:Adra2a	UTSW	19	54,034,926 (GRCm39)	missense	probably damaging	1.00
R4984:Adra2a	UTSW	19	54,035,070 (GRCm39)	missense	probably damaging	1.00
R5260:Adra2a	UTSW	19	54,035,039 (GRCm39)	missense	probably damaging	1.00
R5326:Adra2a	UTSW	19	54,035,112 (GRCm39)	missense	probably damaging	1.00
R5585:Adra2a	UTSW	19	54,034,670 (GRCm39)	missense	probably benign	0.00
R6861:Adra2a	UTSW	19	54,034,818 (GRCm39)	missense	probably damaging	1.00
R7677:Adra2a	UTSW	19	54,035,375 (GRCm39)	missense	probably damaging	1.00
R7836:Adra2a	UTSW	19	54,034,659 (GRCm39)	missense	probably benign	0.41
R8997:Adra2a	UTSW	19	54,035,729 (GRCm39)	missense	probably benign	0.04
R9486:Adra2a	UTSW	19	54,035,963 (GRCm39)	missense	probably damaging	1.00
R9544:Adra2a	UTSW	19	54,035,454 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TCTTCCTTATGTGAGGCGC -3'
(R):5'- GTCGAGAGCCAAATAGATCTCAC -3'

Sequencing Primer
(F):5'- GCGTTCATGTTCCGCCAG -3'
(R):5'- GAGAGCCAAATAGATCTCACACCAC -3'

Posted On

2019-06-26