Incidental Mutation 'R4378:Adora1'
ID |
325176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adora1
|
Ensembl Gene |
ENSMUSG00000042429 |
Gene Name |
adenosine A1 receptor |
Synonyms |
A1-AR, A1R, Ri, ARA1, AA1R, A1AR |
MMRRC Submission |
041121-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4378 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
134126961-134163169 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 134130948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 241
(F241S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038191]
[ENSMUST00000038445]
[ENSMUST00000086465]
[ENSMUST00000169927]
[ENSMUST00000187631]
[ENSMUST00000191577]
|
AlphaFold |
Q60612 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038191
AA Change: F241S
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043522 Gene: ENSMUSG00000042429 AA Change: F241S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
17 |
305 |
1.1e-10 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
20 |
303 |
5e-14 |
PFAM |
Pfam:7tm_1
|
26 |
288 |
9.8e-52 |
PFAM |
low complexity region
|
311 |
323 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000038445
|
SMART Domains |
Protein: ENSMUSP00000042195 Gene: ENSMUSG00000042451
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
66 |
N/A |
INTRINSIC |
FN3
|
77 |
160 |
4.84e-9 |
SMART |
IG
|
187 |
270 |
9.78e-7 |
SMART |
FN3
|
273 |
355 |
1.1e-7 |
SMART |
IGc2
|
400 |
467 |
1.38e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086465
AA Change: F241S
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000083656 Gene: ENSMUSG00000042429 AA Change: F241S
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
20 |
303 |
5e-14 |
PFAM |
Pfam:7tm_1
|
26 |
288 |
1.9e-63 |
PFAM |
low complexity region
|
311 |
323 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169927
AA Change: F241S
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132105 Gene: ENSMUSG00000042429 AA Change: F241S
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
20 |
303 |
5e-14 |
PFAM |
Pfam:7tm_1
|
26 |
288 |
1.9e-63 |
PFAM |
low complexity region
|
311 |
323 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187631
|
SMART Domains |
Protein: ENSMUSP00000140801 Gene: ENSMUSG00000042429
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
17 |
146 |
1.2e-4 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
20 |
148 |
1.6e-9 |
PFAM |
Pfam:7tm_1
|
26 |
176 |
1.1e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191577
|
SMART Domains |
Protein: ENSMUSP00000141104 Gene: ENSMUSG00000042451
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
66 |
N/A |
INTRINSIC |
FN3
|
77 |
160 |
4.84e-9 |
SMART |
IG
|
187 |
270 |
9.78e-7 |
SMART |
FN3
|
273 |
355 |
1.1e-7 |
SMART |
IGc2
|
400 |
467 |
1.38e-6 |
SMART |
|
Meta Mutation Damage Score |
0.4413 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
96% (47/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a null allele exhibit allodynia, hyperalgesia, increased anxiety, and decreased hypoxic neuroprotection. Homozygotes for a different null allele show increased susceptibility to kidney reperfusion injury and absent tubuloglomerular feedback response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,243,644 (GRCm39) |
K1836E |
probably benign |
Het |
Akt1s1 |
C |
T |
7: 44,503,384 (GRCm39) |
T168M |
probably damaging |
Het |
Amigo1 |
C |
T |
3: 108,099,069 (GRCm39) |
|
probably benign |
Het |
Amigo2 |
A |
G |
15: 97,143,859 (GRCm39) |
F188L |
possibly damaging |
Het |
Armc2 |
T |
C |
10: 41,869,078 (GRCm39) |
T29A |
possibly damaging |
Het |
Axl |
G |
A |
7: 25,458,262 (GRCm39) |
A822V |
probably benign |
Het |
Borcs5 |
T |
C |
6: 134,621,292 (GRCm39) |
V21A |
probably benign |
Het |
Cdc42ep3 |
A |
G |
17: 79,642,408 (GRCm39) |
S171P |
probably benign |
Het |
Cmas |
T |
C |
6: 142,718,011 (GRCm39) |
|
probably benign |
Het |
Cyp4f40 |
A |
G |
17: 32,887,003 (GRCm39) |
N158S |
probably null |
Het |
Dnah6 |
G |
T |
6: 73,095,009 (GRCm39) |
N2139K |
probably benign |
Het |
Elmo1 |
A |
T |
13: 20,557,286 (GRCm39) |
H409L |
possibly damaging |
Het |
Exoc1l |
A |
G |
5: 76,648,380 (GRCm39) |
K62R |
probably damaging |
Het |
Exoc4 |
T |
A |
6: 33,792,622 (GRCm39) |
V584E |
probably damaging |
Het |
Gm9116 |
A |
G |
3: 93,817,786 (GRCm39) |
|
noncoding transcript |
Het |
Gxylt2 |
A |
G |
6: 100,710,161 (GRCm39) |
S101G |
probably benign |
Het |
Hsph1 |
C |
A |
5: 149,559,472 (GRCm39) |
E24* |
probably null |
Het |
Ighv1-56 |
C |
T |
12: 115,206,568 (GRCm39) |
E50K |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrriq1 |
A |
T |
10: 103,038,225 (GRCm39) |
D859E |
probably damaging |
Het |
Mapk7 |
G |
A |
11: 61,384,493 (GRCm39) |
S71L |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,634,424 (GRCm39) |
Y500H |
probably damaging |
Het |
Or1j1 |
T |
C |
2: 36,702,481 (GRCm39) |
M208V |
probably benign |
Het |
Or5d20-ps1 |
G |
T |
2: 87,931,829 (GRCm39) |
N167K |
unknown |
Het |
Phc1 |
T |
C |
6: 122,311,966 (GRCm39) |
N64S |
possibly damaging |
Het |
Ppp4r3b |
T |
A |
11: 29,159,450 (GRCm39) |
N180K |
possibly damaging |
Het |
Primpol |
G |
A |
8: 47,029,218 (GRCm39) |
|
probably benign |
Het |
Prtg |
T |
C |
9: 72,750,042 (GRCm39) |
S149P |
possibly damaging |
Het |
Qrich2 |
T |
C |
11: 116,337,741 (GRCm39) |
S1916G |
probably damaging |
Het |
Rps6ka5 |
A |
T |
12: 100,564,196 (GRCm39) |
Y218N |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,899,833 (GRCm39) |
D1278G |
possibly damaging |
Het |
Sirt1 |
C |
T |
10: 63,174,728 (GRCm39) |
A8T |
probably benign |
Het |
Sobp |
C |
T |
10: 42,897,300 (GRCm39) |
V762I |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,915,581 (GRCm39) |
S1994P |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,347,636 (GRCm39) |
I87T |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,278,004 (GRCm39) |
Y1168C |
probably damaging |
Het |
Trhr |
A |
G |
15: 44,061,023 (GRCm39) |
Y181C |
probably damaging |
Het |
Ube4b |
C |
T |
4: 149,468,255 (GRCm39) |
D174N |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,137,751 (GRCm39) |
H1067Y |
possibly damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
Vmn2r88 |
T |
A |
14: 51,650,746 (GRCm39) |
L153* |
probably null |
Het |
Zfp516 |
T |
A |
18: 83,005,305 (GRCm39) |
D736E |
probably benign |
Het |
Zfp612 |
G |
T |
8: 110,815,683 (GRCm39) |
V258F |
possibly damaging |
Het |
|
Other mutations in Adora1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00957:Adora1
|
APN |
1 |
134,130,951 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01641:Adora1
|
APN |
1 |
134,161,852 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03025:Adora1
|
APN |
1 |
134,130,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R5248:Adora1
|
UTSW |
1 |
134,131,224 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5327:Adora1
|
UTSW |
1 |
134,130,748 (GRCm39) |
nonsense |
probably null |
|
R5408:Adora1
|
UTSW |
1 |
134,130,901 (GRCm39) |
missense |
probably benign |
0.02 |
R6810:Adora1
|
UTSW |
1 |
134,161,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R7844:Adora1
|
UTSW |
1 |
134,131,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R7952:Adora1
|
UTSW |
1 |
134,131,024 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8241:Adora1
|
UTSW |
1 |
134,131,062 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Adora1
|
UTSW |
1 |
134,131,314 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Adora1
|
UTSW |
1 |
134,161,966 (GRCm39) |
missense |
possibly damaging |
0.69 |
Z1177:Adora1
|
UTSW |
1 |
134,161,862 (GRCm39) |
missense |
possibly damaging |
0.64 |
Z1177:Adora1
|
UTSW |
1 |
134,130,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGACCCGGAACTTGTGGATTC -3'
(R):5'- CCCGTGATCAAGTGTGAGTTC -3'
Sequencing Primer
(F):5'- CTTGTGGATTCGGAAGGCATAGAC -3'
(R):5'- GGAGTACATGGTCTACTTCAACTTC -3'
|
Posted On |
2015-07-06 |