Incidental Mutation 'R6392:Adra1d'
ID |
515795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adra1d
|
Ensembl Gene |
ENSMUSG00000027335 |
Gene Name |
adrenergic receptor, alpha 1d |
Synonyms |
Gpcr8, Adra1, Adra-1, Adra1a, alpha1D-AR |
MMRRC Submission |
044541-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R6392 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
131387770-131404203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 131403529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 187
(D187G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103184]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103184
AA Change: D187G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099473 Gene: ENSMUSG00000027335 AA Change: D187G
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
57 |
N/A |
INTRINSIC |
low complexity region
|
65 |
83 |
N/A |
INTRINSIC |
Pfam:7TM_GPCR_Srx
|
98 |
228 |
7.4e-7 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
101 |
411 |
8.9e-14 |
PFAM |
Pfam:7tm_1
|
107 |
396 |
4.5e-78 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146049
|
Meta Mutation Damage Score |
0.9129 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.1%
|
Validation Efficiency |
96% (47/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display hypotension or reduced rearing behavior in a novel environment, decreased wheel-running activity during the night, and reduced hyperlocomotion after amphetamine administration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
A |
T |
17: 45,825,526 (GRCm39) |
I330F |
probably damaging |
Het |
Abcc9 |
A |
G |
6: 142,627,825 (GRCm39) |
S402P |
probably damaging |
Het |
Ada |
A |
G |
2: 163,570,137 (GRCm39) |
L292P |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,079,038 (GRCm39) |
N395K |
probably benign |
Het |
AI467606 |
C |
A |
7: 126,691,717 (GRCm39) |
Y97* |
probably null |
Het |
Arid2 |
A |
G |
15: 96,259,483 (GRCm39) |
E245G |
probably damaging |
Het |
Ccdc78 |
C |
G |
17: 26,007,148 (GRCm39) |
Q213E |
probably damaging |
Het |
Cntnap1 |
G |
T |
11: 101,077,472 (GRCm39) |
D1045Y |
probably damaging |
Het |
Ctcf |
T |
C |
8: 106,390,765 (GRCm39) |
V124A |
probably damaging |
Het |
Cutc |
T |
C |
19: 43,748,489 (GRCm39) |
S129P |
possibly damaging |
Het |
Dhx36 |
T |
C |
3: 62,401,790 (GRCm39) |
I308V |
probably benign |
Het |
Disp2 |
T |
C |
2: 118,621,230 (GRCm39) |
V654A |
probably damaging |
Het |
Esm1 |
G |
A |
13: 113,346,283 (GRCm39) |
|
probably benign |
Het |
Extl1 |
C |
T |
4: 134,091,945 (GRCm39) |
V303I |
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,094,630 (GRCm39) |
D387E |
probably damaging |
Het |
Fbf1 |
T |
A |
11: 116,043,775 (GRCm39) |
|
probably null |
Het |
Fbxl12 |
T |
C |
9: 20,550,472 (GRCm39) |
H84R |
probably damaging |
Het |
Fbxo6 |
C |
T |
4: 148,230,462 (GRCm39) |
V267I |
probably benign |
Het |
Helz |
G |
T |
11: 107,493,167 (GRCm39) |
A197S |
possibly damaging |
Het |
Ikbke |
T |
C |
1: 131,202,883 (GRCm39) |
|
probably null |
Het |
Kbtbd13 |
A |
G |
9: 65,297,619 (GRCm39) |
F439S |
possibly damaging |
Het |
Kif7 |
G |
A |
7: 79,351,934 (GRCm39) |
R943W |
probably damaging |
Het |
Lrp12 |
C |
T |
15: 39,735,415 (GRCm39) |
C839Y |
probably damaging |
Het |
Matr3 |
A |
G |
18: 35,717,894 (GRCm39) |
D364G |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,434,875 (GRCm39) |
K624E |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,166,820 (GRCm39) |
S280P |
possibly damaging |
Het |
Or4a66 |
A |
T |
2: 88,531,011 (GRCm39) |
Y221N |
probably damaging |
Het |
Or52a33 |
A |
C |
7: 103,288,889 (GRCm39) |
C153G |
probably benign |
Het |
Pira2 |
A |
T |
7: 3,846,901 (GRCm39) |
S214T |
possibly damaging |
Het |
Prss3b |
T |
C |
6: 41,009,306 (GRCm39) |
Y176C |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,700,853 (GRCm39) |
I30F |
probably benign |
Het |
Rnf144a |
T |
C |
12: 26,360,779 (GRCm39) |
I253V |
possibly damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,373,302 (GRCm39) |
L823Q |
possibly damaging |
Het |
Sh3rf3 |
A |
T |
10: 58,842,898 (GRCm39) |
D288V |
probably damaging |
Het |
Shprh |
T |
A |
10: 11,054,485 (GRCm39) |
Y1031* |
probably null |
Het |
Sidt1 |
T |
C |
16: 44,111,657 (GRCm39) |
T173A |
possibly damaging |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Ssh3 |
C |
T |
19: 4,315,399 (GRCm39) |
R309H |
probably benign |
Het |
Tagap |
G |
T |
17: 8,152,893 (GRCm39) |
G693W |
probably damaging |
Het |
Tango2 |
T |
A |
16: 18,119,403 (GRCm39) |
I143F |
probably damaging |
Het |
Thsd7a |
T |
C |
6: 12,468,928 (GRCm39) |
H550R |
probably damaging |
Het |
Tmem131 |
T |
A |
1: 36,920,423 (GRCm39) |
Q92H |
probably benign |
Het |
Tnfrsf21 |
T |
C |
17: 43,327,979 (GRCm39) |
L31P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,730,487 (GRCm39) |
|
probably benign |
Het |
Ubash3b |
T |
C |
9: 40,926,268 (GRCm39) |
D493G |
probably damaging |
Het |
Unc13a |
C |
T |
8: 72,090,453 (GRCm39) |
G1411D |
possibly damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfc3h1 |
A |
T |
10: 115,237,653 (GRCm39) |
R477S |
probably damaging |
Het |
Zfp87 |
C |
T |
13: 67,664,986 (GRCm39) |
R492K |
probably benign |
Het |
|
Other mutations in Adra1d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Adra1d
|
APN |
2 |
131,403,597 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02198:Adra1d
|
APN |
2 |
131,388,412 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02901:Adra1d
|
APN |
2 |
131,403,524 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Adra1d
|
APN |
2 |
131,388,001 (GRCm39) |
missense |
probably benign |
0.00 |
BB006:Adra1d
|
UTSW |
2 |
131,403,600 (GRCm39) |
nonsense |
probably null |
|
BB016:Adra1d
|
UTSW |
2 |
131,403,600 (GRCm39) |
nonsense |
probably null |
|
R0238:Adra1d
|
UTSW |
2 |
131,388,134 (GRCm39) |
missense |
probably benign |
0.01 |
R0239:Adra1d
|
UTSW |
2 |
131,388,134 (GRCm39) |
missense |
probably benign |
0.01 |
R0239:Adra1d
|
UTSW |
2 |
131,388,134 (GRCm39) |
missense |
probably benign |
0.01 |
R1568:Adra1d
|
UTSW |
2 |
131,388,092 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1806:Adra1d
|
UTSW |
2 |
131,388,069 (GRCm39) |
missense |
probably benign |
0.31 |
R2192:Adra1d
|
UTSW |
2 |
131,403,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R2510:Adra1d
|
UTSW |
2 |
131,404,055 (GRCm39) |
nonsense |
probably null |
|
R3913:Adra1d
|
UTSW |
2 |
131,404,075 (GRCm39) |
missense |
probably damaging |
0.98 |
R4660:Adra1d
|
UTSW |
2 |
131,403,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R5303:Adra1d
|
UTSW |
2 |
131,388,169 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5355:Adra1d
|
UTSW |
2 |
131,403,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R5428:Adra1d
|
UTSW |
2 |
131,403,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R6277:Adra1d
|
UTSW |
2 |
131,403,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R7200:Adra1d
|
UTSW |
2 |
131,403,170 (GRCm39) |
missense |
probably benign |
0.00 |
R7779:Adra1d
|
UTSW |
2 |
131,403,805 (GRCm39) |
missense |
probably damaging |
0.99 |
R7929:Adra1d
|
UTSW |
2 |
131,403,600 (GRCm39) |
nonsense |
probably null |
|
R8070:Adra1d
|
UTSW |
2 |
131,403,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R8135:Adra1d
|
UTSW |
2 |
131,403,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R8708:Adra1d
|
UTSW |
2 |
131,403,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R8808:Adra1d
|
UTSW |
2 |
131,403,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R9290:Adra1d
|
UTSW |
2 |
131,403,898 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCACGATCACTGCCATG -3'
(R):5'- TCATCGTGAACCTAGCAGTGG -3'
Sequencing Primer
(F):5'- ACGATCACTGCCATGGGGAG -3'
(R):5'- TGGCTGACCTGCTACTGAG -3'
|
Posted On |
2018-05-04 |