Mutagenetix > Incidental Mutation

Incidental Mutation 'R8197:Adra2b'

635477

Institutional Source

Beutler Lab

Gene Symbol

Adra2b

Ensembl Gene

ENSMUSG00000058620

Gene Name

adrenergic receptor, alpha 2b

Synonyms

alpha2B, [a]2B, a2b-AR, Adra-2b

MMRRC Submission

067620-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R8197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127205128-127209141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127206578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 365 (Q365L)

Ref Sequence

ENSEMBL: ENSMUSP00000071798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071902] [ENSMUST00000104934]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071902
AA Change: Q365L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071798
Gene: ENSMUSG00000058620
AA Change: Q365L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	23	168	1.7e-9	PFAM
Pfam:7TM_GPCR_Srx	25	159	9.5e-10	PFAM
Pfam:7TM_GPCR_Srsx	28	218	1.2e-10	PFAM
Pfam:7tm_1	34	429	6.8e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104934
AA Change: Q360L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000100539
Gene: ENSMUSG00000058620
AA Change: Q360L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	20	154	4e-9	PFAM
Pfam:7TM_GPCR_Srsx	23	213	1.9e-10	PFAM
Pfam:7tm_1	29	424	7e-77	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

96% (46/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous null mice exhibit poor survival and breeding, lack the vasoconstrictor response to alpha2-adrenergic receptor agonists, and display background strain dependent postnatal respiratory failure. Heterozygotes show an attenuated hypertensive response to subtotal nephrectomy and salt loading. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,780,628 (GRCm39)	D836E	probably benign	Het
Abca6	A	C	11: 110,102,641 (GRCm39)	L861R	probably damaging	Het
Adamts18	G	T	8: 114,481,227 (GRCm39)	A560E	probably damaging	Het
Anxa3	A	G	5: 96,982,651 (GRCm39)	T250A	probably benign	Het
B4galt5	T	A	2: 167,144,023 (GRCm39)	N309I	probably benign	Het
Bub1	G	T	2: 127,643,177 (GRCm39)	R1056S	probably damaging	Het
Ccdc185	G	T	1: 182,576,324 (GRCm39)	P122T	possibly damaging	Het
Cdk5rap3	A	G	11: 96,806,975 (GRCm39)		probably null	Het
Cntnap4	T	A	8: 113,296,857 (GRCm39)	Y31N	probably benign	Het
Crygc	T	C	1: 65,112,365 (GRCm39)	M70V	probably benign	Het
Dnah14	A	G	1: 181,517,666 (GRCm39)	E2000G	possibly damaging	Het
Dpp4	T	C	2: 62,203,171 (GRCm39)	N266S	probably benign	Het
Edrf1	T	A	7: 133,249,088 (GRCm39)	D304E	probably benign	Het
Fabp9	T	G	3: 10,259,887 (GRCm39)	K42T	probably benign	Het
Fhl4	T	A	10: 84,934,101 (GRCm39)	I227F	probably damaging	Het
Gm13941	T	C	2: 110,926,921 (GRCm39)		probably null	Het
Gsdmd	T	C	15: 75,736,186 (GRCm39)	I105T	possibly damaging	Het
Gys1	A	G	7: 45,092,348 (GRCm39)	D317G	possibly damaging	Het
Hrh4	A	G	18: 13,154,986 (GRCm39)	Y175C	probably damaging	Het
Igfals	A	G	17: 25,099,278 (GRCm39)	N123S	probably benign	Het
Igkv5-37	A	G	6: 69,940,841 (GRCm39)	V2A	possibly damaging	Het
Iqsec3	A	G	6: 121,389,971 (GRCm39)	L500P	unknown	Het
Itgae	G	A	11: 73,011,210 (GRCm39)	R660Q	probably benign	Het
Kcnip2	T	C	19: 45,782,730 (GRCm39)	I204V	possibly damaging	Het
Kndc1	A	G	7: 139,493,447 (GRCm39)	E471G	probably damaging	Het
Lrrtm3	T	A	10: 63,924,295 (GRCm39)	T291S	possibly damaging	Het
Mast1	T	A	8: 85,639,450 (GRCm39)	H1293L	possibly damaging	Het
Mrnip	A	G	11: 50,090,607 (GRCm39)	E257G	probably benign	Het
Myo9b	T	C	8: 71,743,607 (GRCm39)	Y223H	probably damaging	Het
Nab1	G	A	1: 52,529,127 (GRCm39)	R257*	probably null	Het
Ncapd3	C	A	9: 26,997,329 (GRCm39)	L1217I	probably damaging	Het
Or5h18	T	A	16: 58,847,448 (GRCm39)	D274V	probably benign	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pde4d	T	A	13: 110,084,870 (GRCm39)	I489N	probably damaging	Het
Pdyn	C	T	2: 129,530,277 (GRCm39)	G131R	probably benign	Het
Qrich2	CACCTGCTTGCAACACACCAGGCTGAACTGGACCT	CACCT	11: 116,347,861 (GRCm39)		probably benign	Het
Rps6ka1	T	C	4: 133,592,673 (GRCm39)	K276E	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Scube2	T	A	7: 109,407,684 (GRCm39)	N752I	possibly damaging	Het
Scyl2	T	C	10: 89,498,228 (GRCm39)	I194V	probably benign	Het
Sec31b	T	G	19: 44,512,955 (GRCm39)	R511S	probably benign	Het
Serpinb6d	T	C	13: 33,851,588 (GRCm39)	F115S	probably damaging	Het
Skint6	T	G	4: 112,752,040 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,411,542 (GRCm39)	P614S	possibly damaging	Het
Tmem114	T	C	16: 8,227,516 (GRCm39)	I182M	probably damaging	Het
Vmn1r125	G	A	7: 21,006,851 (GRCm39)	V250I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp1005	A	T	2: 150,109,577 (GRCm39)	H89L	possibly damaging	Het
Zfp959	A	T	17: 56,204,677 (GRCm39)	D238V	probably damaging	Het

Other mutations in Adra2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03181:Adra2b	APN	2	127,205,903 (GRCm39)	missense	probably benign	0.09
R0081:Adra2b	UTSW	2	127,206,212 (GRCm39)	missense	probably benign
R1964:Adra2b	UTSW	2	127,205,734 (GRCm39)	missense	probably damaging	1.00
R2265:Adra2b	UTSW	2	127,205,791 (GRCm39)	missense	probably damaging	1.00
R3156:Adra2b	UTSW	2	127,205,570 (GRCm39)	missense	probably damaging	1.00
R3818:Adra2b	UTSW	2	127,205,755 (GRCm39)	nonsense	probably null
R4818:Adra2b	UTSW	2	127,206,012 (GRCm39)	nonsense	probably null
R5893:Adra2b	UTSW	2	127,206,402 (GRCm39)	missense	probably benign	0.01
R8518:Adra2b	UTSW	2	127,206,056 (GRCm39)	missense	probably damaging	1.00
R8706:Adra2b	UTSW	2	127,206,487 (GRCm39)	missense	probably benign
R8787:Adra2b	UTSW	2	127,206,417 (GRCm39)	missense	probably benign	0.02
R8955:Adra2b	UTSW	2	127,205,504 (GRCm39)	missense	probably benign
R9104:Adra2b	UTSW	2	127,205,858 (GRCm39)	missense	probably damaging	1.00
R9574:Adra2b	UTSW	2	127,206,283 (GRCm39)	missense	probably benign	0.01
Z1176:Adra2b	UTSW	2	127,205,958 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GATCAGTCCAGGACCAGAAG -3'
(R):5'- TGCAGTAGCCAATCCAGAAG -3'

Sequencing Primer
(F):5'- GACTAGTGGGGCAACTGC -3'
(R):5'- TAGCCAATCCAGAAGAAGAACTG -3'

Posted On

2020-07-13