Mutagenetix > Incidental Mutation

Incidental Mutation 'R7249:Adra2c'

563746

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

045312-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.446) question?

Stock #

R7249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35435910-35439107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35438299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 357 (R357H)

Ref Sequence

ENSEMBL: ENSMUSP00000059705 (fasta)

Gene Model

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

AlphaFold

Q01337

Predicted Effect

probably damaging
Transcript: ENSMUST00000049545
AA Change: R357H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059705
Gene: ENSMUSG00000045318
AA Change: R357H

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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. 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,974,970 (GRCm39)	T38A	probably benign	Het
3425401B19Rik	G	T	14: 32,385,271 (GRCm39)	S231R	possibly damaging	Het
Abi1	T	C	2: 22,847,101 (GRCm39)	E250G	possibly damaging	Het
Actl6b	T	A	5: 137,553,347 (GRCm39)	S120T	probably damaging	Het
Adgrv1	G	A	13: 81,522,378 (GRCm39)	H5920Y	probably damaging	Het
Ap3d1	T	C	10: 80,577,767 (GRCm39)	D20G	probably damaging	Het
Arfgef3	A	T	10: 18,506,583 (GRCm39)	D847E	possibly damaging	Het
Cacna1d	T	C	14: 29,864,660 (GRCm39)	E434G	probably damaging	Het
Carm1	T	C	9: 21,497,505 (GRCm39)	Y356H	probably benign	Het
Clip1	T	C	5: 123,741,663 (GRCm39)	K1075R	probably damaging	Het
Cyp27b1	G	T	10: 126,886,918 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,113,885 (GRCm39)	V1769D	possibly damaging	Het
Dchs2	C	T	3: 83,035,336 (GRCm39)	Q28*	probably null	Het
Dpp4	A	G	2: 62,215,547 (GRCm39)	F107L	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Faap24	A	G	7: 35,094,485 (GRCm39)	V105A	probably benign	Het
Gabra6	A	T	11: 42,208,259 (GRCm39)	D166E	probably damaging	Het
Gfpt1	A	G	6: 87,033,126 (GRCm39)	E117G	probably damaging	Het
H2-T10	T	C	17: 36,430,269 (GRCm39)	D224G	probably damaging	Het
Hspa12a	T	A	19: 58,793,865 (GRCm39)	E332V	probably benign	Het
Htr5b	T	A	1: 121,438,203 (GRCm39)	N343Y	probably damaging	Het
Irf8	C	A	8: 121,466,571 (GRCm39)	N5K	possibly damaging	Het
Itgb1	C	A	8: 129,446,885 (GRCm39)	Q467K	probably benign	Het
Itpr2	C	A	6: 146,212,550 (GRCm39)	C1522F	probably damaging	Het
Jmjd1c	T	A	10: 67,025,596 (GRCm39)	L138I	probably benign	Het
Lrrc8b	G	T	5: 105,629,133 (GRCm39)	R493L	probably benign	Het
Malrd1	G	T	2: 15,628,151 (GRCm39)	C400F	probably damaging	Het
Marchf8	G	A	6: 116,383,195 (GRCm39)	E257K	probably benign	Het
Mastl	G	A	2: 23,036,151 (GRCm39)	H122Y	probably damaging	Het
Mis18a	T	C	16: 90,523,202 (GRCm39)	K98R	possibly damaging	Het
Msra	A	G	14: 64,678,212 (GRCm39)	V28A	probably benign	Het
Mtmr7	A	G	8: 41,043,520 (GRCm39)	V177A	probably benign	Het
Nelfcd	T	C	2: 174,264,999 (GRCm39)		probably null	Het
Nemp1	T	C	10: 127,529,395 (GRCm39)	S226P	probably damaging	Het
Nmnat1	G	A	4: 149,554,099 (GRCm39)	T147I	probably null	Het
Ntng2	A	G	2: 29,118,004 (GRCm39)	V148A	probably benign	Het
Nup214	A	G	2: 31,878,245 (GRCm39)	H304R	possibly damaging	Het
Or4a2	T	C	2: 89,248,217 (GRCm39)	Y180C	probably damaging	Het
Phldb2	C	A	16: 45,621,977 (GRCm39)	A623S	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkn3	G	A	2: 29,974,773 (GRCm39)	R429Q	probably benign	Het
Plcb4	A	G	2: 135,849,741 (GRCm39)		probably null	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnp	G	A	14: 51,188,887 (GRCm39)	V227I	probably benign	Het
Pskh1	T	C	8: 106,639,886 (GRCm39)	S189P	possibly damaging	Het
Rbpms2	T	G	9: 65,556,632 (GRCm39)	V24G	probably damaging	Het
Robo3	T	A	9: 37,336,129 (GRCm39)	I446L	probably benign	Het
Septin8	A	T	11: 53,425,949 (GRCm39)	K174I	probably damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Slco4a1	A	G	2: 180,106,604 (GRCm39)	Y262C	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,784,512 (GRCm39)	S519G	probably benign	Het
Ssx2ip	A	G	3: 146,132,193 (GRCm39)	N218S	possibly damaging	Het
Svil	T	C	18: 5,056,270 (GRCm39)	V381A	probably benign	Het
Svil	T	C	18: 5,062,247 (GRCm39)	S769P	probably damaging	Het
Tep1	A	T	14: 51,061,732 (GRCm39)	C2595S	possibly damaging	Het
Tiam1	T	C	16: 89,640,143 (GRCm39)	Y858C	probably damaging	Het
Tie1	A	G	4: 118,343,425 (GRCm39)	V146A	probably benign	Het
Traf3ip1	G	T	1: 91,455,361 (GRCm39)	E578D	probably damaging	Het
Trim23	A	G	13: 104,324,663 (GRCm39)	Y247C	probably damaging	Het
Tsc2	A	G	17: 24,826,729 (GRCm39)	W896R	probably damaging	Het
Vmn1r157	T	C	7: 22,461,125 (GRCm39)	S2P	probably benign	Het
Xkr4	T	A	1: 3,287,033 (GRCm39)	T386S	probably damaging	Het
Zdhhc24	T	G	19: 4,928,889 (GRCm39)	V38G	possibly damaging	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
R6276:Adra2c	UTSW	5	35,437,423 (GRCm39)	missense	probably damaging	0.98
R7108:Adra2c	UTSW	5	35,437,342 (GRCm39)	missense	probably benign
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'- CATCATGGGCCTGGTCTATG -3'
(R):5'- AAAGAGCGGTTCTGGCAAC -3'

Sequencing Primer
(F):5'- GGTCTATGCGCGCATCTAC -3'
(R):5'- CAACTGGCAGGCCTCAC -3'

Posted On

2019-06-26