Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Adra2c'

507630

Institutional Source

Beutler Lab

Gene Symbol

Adra2c

Ensembl Gene

ENSMUSG00000045318

Gene Name

adrenergic receptor, alpha 2c

Synonyms

subtype alpha2-C4, [a]2C, alpha2C, Adra-2c, alpha2-C4

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R6276 (G1)

Quality Score

148.008

Status

Validated

Chromosome

Chromosomal Location

35435910-35439107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35437423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 65 (T65I)

Ref Sequence

ENSEMBL: ENSMUSP00000059705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049545]

AlphaFold

Q01337

Predicted Effect

probably damaging
Transcript: ENSMUST00000049545
AA Change: T65I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059705
Gene: ENSMUSG00000045318
AA Change: T65I

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	20	36	N/A	INTRINSIC
low complexity region	48	59	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	62	248	5.3e-8	PFAM
Pfam:7tm_1	68	433	9.5e-73	PFAM
low complexity region	441	457	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

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. The mouse studies 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 the alpha2C subtype, which 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 are viable and fertile and appear grossly normal. [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
Actr3	A	T	1: 125,322,874 (GRCm39)	D364E	probably benign	Het
Agap2	T	A	10: 126,925,229 (GRCm39)		probably null	Het
Ager	T	C	17: 34,817,728 (GRCm39)	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,621,736 (GRCm39)	I288M	probably benign	Het
Arhgap45	A	T	10: 79,862,068 (GRCm39)	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043 (GRCm39)	Y426C	probably damaging	Het
Azi2	C	T	9: 117,878,406 (GRCm39)	T82I	probably damaging	Het
Baz2b	T	A	2: 59,778,567 (GRCm39)	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,506,338 (GRCm39)	I701S	probably damaging	Het
Ccnq	T	C	11: 78,642,056 (GRCm39)	K145E	probably damaging	Het
Cd55b	T	A	1: 130,345,903 (GRCm39)	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,718,647 (GRCm39)	E199G	probably benign	Het
Cntnap4	A	T	8: 113,478,921 (GRCm39)	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,761,858 (GRCm39)	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,214,636 (GRCm39)	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,979,653 (GRCm39)	E96G	probably benign	Het
Dscaml1	C	T	9: 45,579,458 (GRCm39)	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,378,022 (GRCm39)	G695C	probably damaging	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
F2rl1	G	T	13: 95,650,446 (GRCm39)	Y145*	probably null	Het
Fsip2	A	T	2: 82,810,785 (GRCm39)	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,989,612 (GRCm39)		probably null	Het
Garre1	A	T	7: 33,941,802 (GRCm39)	Y627*	probably null	Het
Gm6811	T	A	17: 21,314,245 (GRCm39)		noncoding transcript	Het
Gm6811	T	G	17: 21,314,952 (GRCm39)		noncoding transcript	Het
H2-M1	G	A	17: 36,982,602 (GRCm39)	T86M	possibly damaging	Het
Hk2	T	C	6: 82,720,347 (GRCm39)	D170G	probably benign	Het
Hmcn1	C	T	1: 150,614,432 (GRCm39)	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,707,826 (GRCm39)	Y89*	probably null	Het
Itga1	T	C	13: 115,117,388 (GRCm39)	E871G	probably benign	Het
Kat6a	T	C	8: 23,429,421 (GRCm39)	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,500,979 (GRCm39)	A756E	probably benign	Het
Krt12	A	T	11: 99,312,728 (GRCm39)	C105*	probably null	Het
Lama1	G	A	17: 68,091,083 (GRCm39)		probably null	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lrrk1	A	G	7: 65,956,587 (GRCm39)		probably null	Het
Lypd9	T	A	11: 58,337,192 (GRCm39)	I94L	possibly damaging	Het
Map2	T	C	1: 66,438,578 (GRCm39)	V34A	probably damaging	Het
Mroh6	A	G	15: 75,757,549 (GRCm39)	L487P	probably damaging	Het
Myo18b	A	T	5: 112,959,508 (GRCm39)	S1430T	probably benign	Het
Notch3	G	A	17: 32,373,723 (GRCm39)	T495I	probably benign	Het
Or1e31	A	T	11: 73,690,229 (GRCm39)	M118K	probably damaging	Het
Palld	C	T	8: 61,966,457 (GRCm39)	A980T	probably damaging	Het
Paxip1	A	T	5: 27,966,666 (GRCm39)	I620N	probably damaging	Het
Pcdha6	A	G	18: 37,102,820 (GRCm39)		probably null	Het
Pcdhb11	G	A	18: 37,554,813 (GRCm39)	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,840,697 (GRCm39)	E139G	probably benign	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phactr3	G	A	2: 177,920,812 (GRCm39)	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,153,684 (GRCm39)		probably benign	Het
Prodh2	A	G	7: 30,206,076 (GRCm39)	H278R	probably benign	Het
Rspry1	T	A	8: 95,349,886 (GRCm39)	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Smn1	A	G	13: 100,264,503 (GRCm39)	N78S	possibly damaging	Het
Spta1	T	A	1: 174,046,078 (GRCm39)	I1614N	probably damaging	Het
Syt17	T	C	7: 118,033,513 (GRCm39)	D165G	probably damaging	Het
Tbck	A	G	3: 132,448,766 (GRCm39)	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,606,687 (GRCm39)	F422L	probably benign	Het
Tex15	T	A	8: 34,067,217 (GRCm39)	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,225,441 (GRCm39)	E846G	probably benign	Het
Ttc41	T	C	10: 86,580,313 (GRCm39)	I753T	probably benign	Het
Vdac1	C	T	11: 52,267,309 (GRCm39)	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 20,994,104 (GRCm39)	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,368,465 (GRCm39)	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,493,730 (GRCm39)	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,570,318 (GRCm39)	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,671,732 (GRCm39)	A490S	possibly damaging	Het
Wdfy4	C	T	14: 32,831,482 (GRCm39)	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,345,604 (GRCm39)		probably null	Het
Zscan2	A	G	7: 80,525,557 (GRCm39)	N426S	probably benign	Het

Other mutations in Adra2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Adra2c	APN	5	35,438,485 (GRCm39)	missense	probably damaging	1.00
R1668:Adra2c	UTSW	5	35,437,641 (GRCm39)	missense	probably damaging	1.00
R2016:Adra2c	UTSW	5	35,437,656 (GRCm39)	missense	probably damaging	1.00
R2697:Adra2c	UTSW	5	35,438,042 (GRCm39)	missense	probably benign	0.16
R4899:Adra2c	UTSW	5	35,437,705 (GRCm39)	missense	probably damaging	1.00
R4974:Adra2c	UTSW	5	35,438,268 (GRCm39)	missense	probably benign	0.20
R5396:Adra2c	UTSW	5	35,438,217 (GRCm39)	missense	probably benign	0.00
R7108:Adra2c	UTSW	5	35,437,342 (GRCm39)	missense	probably benign
R7249:Adra2c	UTSW	5	35,438,299 (GRCm39)	missense	probably damaging	1.00
R7574:Adra2c	UTSW	5	35,437,759 (GRCm39)	missense	probably damaging	1.00
R8743:Adra2c	UTSW	5	35,437,792 (GRCm39)	missense	possibly damaging	0.82
R8843:Adra2c	UTSW	5	35,437,707 (GRCm39)	missense	probably damaging	1.00
R9524:Adra2c	UTSW	5	35,438,143 (GRCm39)	missense	probably benign	0.03
RF007:Adra2c	UTSW	5	35,438,386 (GRCm39)	missense	probably damaging	1.00
Z1176:Adra2c	UTSW	5	35,438,248 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCTCTCGGGAGGACCATG -3'
(R):5'- GTCCAGTGCCAGGTATACAC -3'

Sequencing Primer
(F):5'- GGAGGACCATGGCGTCC -3'
(R):5'- GGTATACACCACACCACACTTG -3'

Posted On

2018-03-15