Incidental Mutation 'R2697:Adra2c'
ID 251157
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 040435-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.446) question?
Stock # R2697 (G1)
Quality Score 175
Status Not validated
Chromosome 5
Chromosomal Location 35435910-35439107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35438042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 271 (N271K)
Ref Sequence ENSEMBL: ENSMUSP00000059705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049545]
AlphaFold Q01337
Predicted Effect probably benign
Transcript: ENSMUST00000049545
AA Change: N271K

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000059705
Gene: ENSMUSG00000045318
AA Change: N271K

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik T C 6: 132,603,619 (GRCm39) S46G unknown Het
Acaca T A 11: 84,255,239 (GRCm39) D1932E probably damaging Het
Adam7 A T 14: 68,752,232 (GRCm39) C417* probably null Het
Adgrl4 A C 3: 151,216,260 (GRCm39) Q481P probably damaging Het
Ahctf1 T C 1: 179,580,097 (GRCm39) K2035R probably damaging Het
Ano3 T C 2: 110,625,305 (GRCm39) T182A possibly damaging Het
Armc3 T C 2: 19,308,746 (GRCm39) Y805H probably damaging Het
BC024139 TCCACCACCACCACCACCAC TCCACCACCACCACCAC 15: 76,004,393 (GRCm39) probably benign Het
Cabp7 C T 11: 4,688,837 (GRCm39) R211H probably damaging Het
Ccdc117 T C 11: 5,484,888 (GRCm39) N112S possibly damaging Het
Cep120 C T 18: 53,873,197 (GRCm39) D45N probably benign Het
Cpsf1 T C 15: 76,483,529 (GRCm39) Y872C probably damaging Het
Cradd A G 10: 95,011,807 (GRCm39) L111P probably damaging Het
Crhr2 A G 6: 55,079,815 (GRCm39) L155P probably damaging Het
Fgd2 A T 17: 29,595,895 (GRCm39) T518S probably damaging Het
Gpam C T 19: 55,071,641 (GRCm39) E367K probably damaging Het
Gtf3c1 T A 7: 125,243,126 (GRCm39) N1826I probably damaging Het
Kcnq5 T C 1: 21,549,656 (GRCm39) E357G probably damaging Het
Krt1 T A 15: 101,755,364 (GRCm39) D465V probably damaging Het
Lcor T A 19: 41,572,466 (GRCm39) V407E probably benign Het
Macrod1 T C 19: 7,174,157 (GRCm39) V221A probably damaging Het
Mbd1 T C 18: 74,406,688 (GRCm39) S144P possibly damaging Het
Mtfmt T C 9: 65,359,303 (GRCm39) V326A probably benign Het
Myo1b T C 1: 51,902,517 (GRCm39) D71G probably benign Het
Myo1h A G 5: 114,493,274 (GRCm39) Y705C probably damaging Het
Nudt9 T C 5: 104,212,859 (GRCm39) W311R probably damaging Het
Or11g27 C T 14: 50,771,238 (GRCm39) A123V probably damaging Het
Or2a57 A T 6: 43,213,060 (GRCm39) I173F probably damaging Het
Or2h15 A G 17: 38,441,900 (GRCm39) F61S probably damaging Het
Or6c65 G A 10: 129,603,793 (GRCm39) V143I probably benign Het
Osbp2 A T 11: 3,813,407 (GRCm39) L154Q probably benign Het
P3h1 A G 4: 119,104,377 (GRCm39) T633A probably damaging Het
Polq T G 16: 36,862,515 (GRCm39) L616R probably damaging Het
Pon3 A G 6: 5,232,429 (GRCm39) L197S possibly damaging Het
Rap1gds1 C T 3: 138,689,482 (GRCm39) probably null Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rfng C A 11: 120,674,865 (GRCm39) probably benign Het
Rps6ka2 T G 17: 7,567,721 (GRCm39) L728R probably benign Het
Slc41a3 C A 6: 90,619,302 (GRCm39) N360K possibly damaging Het
Sult1e1 T C 5: 87,726,397 (GRCm39) N239S probably damaging Het
Tacr1 T A 6: 82,469,578 (GRCm39) I154N probably damaging Het
Tacstd2 T A 6: 67,512,203 (GRCm39) H163L probably benign Het
Tent5a T C 9: 85,206,793 (GRCm39) D335G possibly damaging Het
Tiam1 T C 16: 89,590,052 (GRCm39) S1382G probably benign Het
Tmem43 A G 6: 91,456,911 (GRCm39) E164G possibly damaging Het
U2af2 G A 7: 5,070,545 (GRCm39) R78H probably benign Het
Yipf7 T A 5: 69,698,483 (GRCm39) D8V possibly damaging Het
Zfp58 G A 13: 67,639,124 (GRCm39) H456Y probably damaging Het
Zfp799 G A 17: 33,039,214 (GRCm39) R351* probably null Het
Zfyve9 T C 4: 108,553,016 (GRCm39) D715G probably damaging Het
Other mutations in Adra2c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGTACATCTTGTCCTCCTGCATAG -3'
(R):5'- ACGAAGGTGAAGCGCTTCTC -3'

Sequencing Primer
(F):5'- GCATAGGCTCCTTCTTCGCG -3'
(R):5'- AGAACTCGACGGAGCGC -3'
Posted On 2014-12-04