Incidental Mutation 'R5844:Adra1a'
ID 450612
Institutional Source Beutler Lab
Gene Symbol Adra1a
Ensembl Gene ENSMUSG00000045875
Gene Name adrenergic receptor, alpha 1a
Synonyms Adra1c
MMRRC Submission 044062-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R5844 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 66872700-67008617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66965183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 391 (T391I)
Ref Sequence ENSEMBL: ENSMUSP00000124322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054661] [ENSMUST00000159068] [ENSMUST00000159365] [ENSMUST00000161339] [ENSMUST00000225182]
AlphaFold P97718
Predicted Effect probably benign
Transcript: ENSMUST00000054661
AA Change: T391I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053703
Gene: ENSMUSG00000045875
AA Change: T391I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 341 4.4e-18 PFAM
Pfam:7tm_1 43 326 1.7e-80 PFAM
Pfam:7TM_GPCR_Srv 44 343 4.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159068
AA Change: T391I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124570
Gene: ENSMUSG00000045875
AA Change: T391I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 341 4.4e-18 PFAM
Pfam:7tm_1 43 326 3e-84 PFAM
Pfam:7TM_GPCR_Srv 44 343 3.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159365
AA Change: T391I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124322
Gene: ENSMUSG00000045875
AA Change: T391I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 341 1.7e-17 PFAM
Pfam:7tm_1 43 326 1.8e-83 PFAM
Pfam:7TM_GPCR_Srv 44 343 7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161339
AA Change: T391I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125354
Gene: ENSMUSG00000045875
AA Change: T391I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 341 4.4e-18 PFAM
Pfam:7tm_1 43 326 3e-84 PFAM
Pfam:7TM_GPCR_Srv 44 343 3.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225182
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: This gene encodes one of several multipass transmembrane proteins that function as G protein-coupled receptors. The encoded protein binds to epinephrine and norepinephrine to mediate signaling in cells of the cardiac, nervous, and other organ systems. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mutations in this gene result in hypotension. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 81,950,065 (GRCm39) M1321L probably benign Het
Atf7ip C A 6: 136,583,812 (GRCm39) A1281D probably damaging Het
BC005624 T C 2: 30,866,023 (GRCm39) N141S probably benign Het
Catsperg2 A T 7: 29,397,257 (GRCm39) L1082Q possibly damaging Het
Cavin2 C T 1: 51,328,998 (GRCm39) R152C probably damaging Het
Ccdc33 C T 9: 57,940,489 (GRCm39) probably benign Het
Cfap43 T C 19: 47,784,135 (GRCm39) D466G probably benign Het
Cfap46 C A 7: 139,230,858 (GRCm39) M923I probably damaging Het
Chd1l T A 3: 97,479,883 (GRCm39) K621N probably benign Het
Cnksr1 A G 4: 133,955,575 (GRCm39) probably benign Het
Cym T C 3: 107,127,080 (GRCm39) H25R probably benign Het
Dagla T A 19: 10,248,489 (GRCm39) D57V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dse T A 10: 34,029,038 (GRCm39) D684V probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo10 A T 4: 45,058,760 (GRCm39) S326T probably benign Het
Galntl5 G T 5: 25,391,091 (GRCm39) probably benign Het
Grm5 A G 7: 87,453,232 (GRCm39) R290G possibly damaging Het
Gtpbp3 A G 8: 71,945,199 (GRCm39) T425A probably benign Het
Hepacam2 A G 6: 3,476,073 (GRCm39) I284T probably damaging Het
Ifi205 A C 1: 173,854,258 (GRCm39) probably null Het
Irs3 T C 5: 137,642,548 (GRCm39) T297A probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Map4k4 T A 1: 40,039,036 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,697,542 (GRCm39) S782G probably benign Het
Mis18a G A 16: 90,523,969 (GRCm39) silent Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Myom2 G A 8: 15,181,182 (GRCm39) probably null Het
Ntaq1 A G 15: 58,017,056 (GRCm39) N157S probably benign Het
Or13a1 A T 6: 116,470,900 (GRCm39) E110V probably damaging Het
Or5g25 A G 2: 85,478,239 (GRCm39) V142A probably benign Het
Pde3b C T 7: 114,108,106 (GRCm39) T568I probably benign Het
Pip4p1 T C 14: 51,166,499 (GRCm39) T160A probably benign Het
Pkhd1 G T 1: 20,451,685 (GRCm39) D2203E probably benign Het
Ppp1r36 A G 12: 76,473,566 (GRCm39) K66E possibly damaging Het
Rfc1 C A 5: 65,451,130 (GRCm39) M319I probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Runx1t1 T C 4: 13,881,068 (GRCm39) V456A probably damaging Het
Rxfp2 A G 5: 149,966,589 (GRCm39) K109R probably benign Het
Sgo2a T G 1: 58,055,556 (GRCm39) V580G probably damaging Het
Skint9 T C 4: 112,271,080 (GRCm39) Q110R probably benign Het
Slc38a9 A G 13: 112,868,035 (GRCm39) Y507C probably damaging Het
Smarca4 T A 9: 21,589,238 (GRCm39) probably benign Het
Tmem88 C G 11: 69,288,504 (GRCm39) Q138H probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tns3 A C 11: 8,384,580 (GRCm39) F1413V probably damaging Het
Trpm8 T C 1: 88,312,433 (GRCm39) *1105Q probably null Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zim1 T C 7: 6,681,115 (GRCm39) R183G probably benign Het
Zmiz1 T C 14: 25,657,354 (GRCm39) S871P probably damaging Het
Other mutations in Adra1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02466:Adra1a APN 14 66,875,322 (GRCm39) missense probably damaging 1.00
IGL02751:Adra1a APN 14 66,964,981 (GRCm39) missense possibly damaging 0.76
IGL02755:Adra1a APN 14 66,965,110 (GRCm39) missense probably benign
IGL03367:Adra1a APN 14 66,875,438 (GRCm39) missense possibly damaging 0.89
R0610:Adra1a UTSW 14 66,875,241 (GRCm39) missense probably damaging 1.00
R0840:Adra1a UTSW 14 66,965,159 (GRCm39) missense possibly damaging 0.73
R1720:Adra1a UTSW 14 66,875,727 (GRCm39) missense probably damaging 1.00
R1902:Adra1a UTSW 14 66,875,684 (GRCm39) missense probably benign 0.30
R2131:Adra1a UTSW 14 66,964,981 (GRCm39) missense possibly damaging 0.76
R2198:Adra1a UTSW 14 66,875,385 (GRCm39) missense probably damaging 1.00
R4702:Adra1a UTSW 14 66,875,008 (GRCm39) start gained probably benign
R4761:Adra1a UTSW 14 66,964,880 (GRCm39) splice site probably null
R4784:Adra1a UTSW 14 66,875,273 (GRCm39) missense probably damaging 1.00
R4814:Adra1a UTSW 14 66,875,481 (GRCm39) missense probably benign 0.01
R7346:Adra1a UTSW 14 66,875,733 (GRCm39) missense probably benign 0.16
R7508:Adra1a UTSW 14 66,875,384 (GRCm39) missense probably damaging 1.00
R7689:Adra1a UTSW 14 66,875,250 (GRCm39) missense probably damaging 1.00
R8794:Adra1a UTSW 14 66,875,064 (GRCm39) missense probably benign 0.32
R8875:Adra1a UTSW 14 66,875,214 (GRCm39) missense possibly damaging 0.95
R9047:Adra1a UTSW 14 66,875,634 (GRCm39) missense probably damaging 1.00
Z1088:Adra1a UTSW 14 66,964,945 (GRCm39) missense probably damaging 0.98
Z1176:Adra1a UTSW 14 66,965,077 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TCCAGCCAGGAGTTCAAGAAAG -3'
(R):5'- TTTCACCGAGGGAGATGGTG -3'

Sequencing Primer
(F):5'- GAAAGCCTTTCAGAATGTGCTGC -3'
(R):5'- CCGAGGGAGATGGTGTGGATC -3'
Posted On 2016-12-20