Mutagenetix > Incidental Mutation

Incidental Mutation 'R9574:Adra2b'

722165

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.828) question?

Stock #

R9574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127205128-127209141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127206283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 267 (T267A)

Ref Sequence

ENSEMBL: ENSMUSP00000071798 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071902
AA Change: T267A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000071798
Gene: ENSMUSG00000058620
AA Change: T267A

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: T262A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100539
Gene: ENSMUSG00000058620
AA Change: T262A

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: 99.7%
20x: 99.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,496 (GRCm39)	E697V	probably damaging	Het
Actn4	T	C	7: 28,594,864 (GRCm39)	D805G	probably benign	Het
Adam2	C	T	14: 66,275,071 (GRCm39)	S554N	probably benign	Het
Apobec4	A	T	1: 152,632,415 (GRCm39)	T148S	probably damaging	Het
B4galt1	T	A	4: 40,853,766 (GRCm39)	M14L	probably benign	Het
Bok	C	A	1: 93,616,947 (GRCm39)	Q98K	probably benign	Het
Cacnb4	A	T	2: 52,327,016 (GRCm39)	L394Q	probably damaging	Het
Ccar2	T	C	14: 70,381,105 (GRCm39)	K287E	probably benign	Het
Cdyl2	T	A	8: 117,350,669 (GRCm39)	E154V	probably benign	Het
Cenpn	T	G	8: 117,660,149 (GRCm39)	Y160D	probably damaging	Het
Cfap20	T	C	8: 96,149,514 (GRCm39)	Y58C	probably benign	Het
Creb5	T	A	6: 53,658,039 (GRCm39)	L123Q	unknown	Het
Cspg4	G	A	9: 56,797,342 (GRCm39)	V1269M	probably damaging	Het
Cyp2b19	G	T	7: 26,466,353 (GRCm39)	K385N	probably null	Het
Cyp2b19	A	T	7: 26,466,352 (GRCm39)	K385M	probably damaging	Het
Ercc2	C	A	7: 19,124,060 (GRCm39)	D422E	probably benign	Het
Fbxl12	A	G	9: 20,550,109 (GRCm39)	V129A	possibly damaging	Het
Fbxo11	T	C	17: 88,321,951 (GRCm39)	E84G		Het
Fmn1	T	C	2: 113,425,402 (GRCm39)	L1192S	probably damaging	Het
Galk2	T	C	2: 125,824,979 (GRCm39)	F392L	probably benign	Het
Gas2l3	G	A	10: 89,258,135 (GRCm39)	H153Y	probably damaging	Het
Gcn1	A	T	5: 115,713,341 (GRCm39)	K101N	possibly damaging	Het
Gmfg	C	T	7: 28,145,359 (GRCm39)	Q101*	probably null	Het
Gpr108	C	T	17: 57,545,039 (GRCm39)	C309Y	probably damaging	Het
H3c8	T	C	13: 23,719,761 (GRCm39)	L49P	probably damaging	Het
Hscb	A	T	5: 110,982,595 (GRCm39)	I164N	probably damaging	Het
Kifc2	T	C	15: 76,546,397 (GRCm39)	W260R	probably damaging	Het
Lrp6	T	A	6: 134,447,662 (GRCm39)	D995V	possibly damaging	Het
Lrrc1	T	A	9: 77,358,708 (GRCm39)	I308F	probably damaging	Het
Map7	C	T	10: 20,153,966 (GRCm39)	A694V	unknown	Het
Mapre2	A	G	18: 23,965,993 (GRCm39)	D68G	probably benign	Het
Mertk	A	T	2: 128,593,880 (GRCm39)	I295F	probably benign	Het
Mst1	T	A	9: 107,962,053 (GRCm39)	C690*	probably null	Het
Nde1	A	G	16: 13,988,345 (GRCm39)	E76G	probably damaging	Het
Nek5	T	C	8: 22,564,040 (GRCm39)	T597A	probably benign	Het
Nup210l	T	C	3: 90,117,693 (GRCm39)	F1800L	probably benign	Het
Or5c1	A	G	2: 37,222,148 (GRCm39)	I130V	possibly damaging	Het
Pdpn	T	A	4: 142,997,101 (GRCm39)	D131V	probably benign	Het
Pgap6	T	C	17: 26,337,861 (GRCm39)	V415A	probably damaging	Het
Pot1a	T	C	6: 25,775,718 (GRCm39)	T118A	possibly damaging	Het
Prom1	A	G	5: 44,158,179 (GRCm39)	I843T	probably benign	Het
Prrt3	T	C	6: 113,474,587 (GRCm39)	T212A	probably benign	Het
Rabgap1	A	G	2: 37,433,246 (GRCm39)		probably null	Het
Rarb	A	T	14: 16,574,858 (GRCm38)	S53T	probably damaging	Het
Rnft2	A	G	5: 118,375,330 (GRCm39)	S140P	probably benign	Het
Rxfp1	T	C	3: 79,563,581 (GRCm39)	M362V	probably benign	Het
Sall2	G	A	14: 52,551,617 (GRCm39)	T526M	probably damaging	Het
Scube1	T	C	15: 83,501,000 (GRCm39)	D598G		Het
Sema3f	T	A	9: 107,566,972 (GRCm39)	I186F	possibly damaging	Het
Shank2	A	G	7: 143,622,462 (GRCm39)	T199A	possibly damaging	Het
Sipa1l2	T	A	8: 126,169,453 (GRCm39)	M1427L	probably benign	Het
Sis	C	T	3: 72,828,490 (GRCm39)	G1195D	probably benign	Het
Slc25a39	A	T	11: 102,295,390 (GRCm39)	H193Q	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Srgn	A	C	10: 62,343,444 (GRCm39)	L17R	probably damaging	Het
Stard5	A	G	7: 83,281,944 (GRCm39)	N34D	probably benign	Het
Syt8	A	T	7: 141,993,203 (GRCm39)	D220V	probably damaging	Het
Tex15	A	G	8: 34,064,509 (GRCm39)	E1313G	probably benign	Het
Tmem131l	T	C	3: 83,868,911 (GRCm39)	R155G	probably damaging	Het
Tmem220	T	C	11: 66,916,093 (GRCm39)	V30A	probably damaging	Het
Tollip	A	G	7: 141,445,731 (GRCm39)	I119T	probably damaging	Het
Treml4	G	A	17: 48,571,672 (GRCm39)	G25D	probably damaging	Het
Trim7	T	C	11: 48,728,460 (GRCm39)	F36S	probably damaging	Het
Txnrd3	T	A	6: 89,640,166 (GRCm39)	C293*	probably null	Het
Utp14b	A	G	1: 78,643,482 (GRCm39)	D460G	probably benign	Het
Vmn2r41	T	A	7: 8,153,329 (GRCm39)	N397Y	probably benign	Het
Vmn2r67	T	C	7: 84,786,017 (GRCm39)	I663V	probably benign	Het
Zfp292	T	A	4: 34,839,460 (GRCm39)	H135L	probably damaging	Het
Zfp420	C	T	7: 29,575,480 (GRCm39)	R567*	probably null	Het
Zfp518b	C	T	5: 38,830,773 (GRCm39)	V411M	probably benign	Het
Zfp638	T	A	6: 83,956,680 (GRCm39)	D1762E	probably damaging	Het
Zfp691	T	A	4: 119,028,230 (GRCm39)	M1L	possibly 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
R8197:Adra2b	UTSW	2	127,206,578 (GRCm39)	missense	possibly damaging	0.94
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
Z1176:Adra2b	UTSW	2	127,205,958 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ACCTGCGAATCTATGTAATTGCC -3'
(R):5'- CTGCAAGGGTGGGTTGAATAC -3'

Sequencing Primer
(F):5'- GCGAATCTATGTAATTGCCAAACGC -3'
(R):5'- TGGGTTGAATACTGAGGCAG -3'

Posted On

2022-08-09