Incidental Mutation 'IGL02751:Adra1a'
| ID |
306281 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adra1a
|
| Ensembl Gene |
ENSMUSG00000045875 |
| Gene Name |
adrenergic receptor, alpha 1a |
| Synonyms |
Adra1c |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL02751
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
66872700-67008617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66964981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 324
(I324F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054661]
[ENSMUST00000159068]
[ENSMUST00000159365]
[ENSMUST00000161339]
[ENSMUST00000225182]
|
| AlphaFold |
P97718 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054661
AA Change: I324F
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000053703
Gene: ENSMUSG00000045875
AA Change: I324F
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000159068
AA Change: I324F
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124570
Gene: ENSMUSG00000045875
AA Change: I324F
| Domain | Start | End | E-Value | Type |
|---|
|
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: I324F
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124322
Gene: ENSMUSG00000045875
AA Change: I324F
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000161339
AA Change: I324F
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125354
Gene: ENSMUSG00000045875
AA Change: I324F
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
G |
A |
15: 73,002,746 (GRCm39) |
A162V |
possibly damaging |
Het |
| Aox4 |
G |
T |
1: 58,298,211 (GRCm39) |
R1059I |
probably damaging |
Het |
| AU021092 |
C |
A |
16: 5,030,483 (GRCm39) |
V304L |
probably damaging |
Het |
| Bcs1l |
T |
G |
1: 74,628,775 (GRCm39) |
F20V |
probably damaging |
Het |
| Braf |
T |
C |
6: 39,637,801 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
| Ccdc116 |
T |
A |
16: 16,959,836 (GRCm39) |
R284S |
probably benign |
Het |
| Cntnap5a |
T |
G |
1: 116,112,187 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,521,141 (GRCm39) |
|
probably benign |
Het |
| Cpa4 |
T |
A |
6: 30,581,739 (GRCm39) |
Y229N |
probably damaging |
Het |
| Fbp1 |
A |
C |
13: 63,022,957 (GRCm39) |
|
probably null |
Het |
| Gimap3 |
A |
T |
6: 48,742,172 (GRCm39) |
W253R |
probably benign |
Het |
| Gm1330 |
G |
A |
2: 148,832,393 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,404,093 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,814,482 (GRCm39) |
T338A |
probably benign |
Het |
| Hmg20b |
A |
T |
10: 81,182,385 (GRCm39) |
|
probably benign |
Het |
| Hnrnpdl |
A |
G |
5: 100,185,833 (GRCm39) |
F151L |
probably damaging |
Het |
| Klhl30 |
T |
A |
1: 91,281,821 (GRCm39) |
F141I |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,810,716 (GRCm39) |
F862Y |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,662,138 (GRCm39) |
C313R |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,363,806 (GRCm39) |
T344A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,778,251 (GRCm39) |
E2023G |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,931,243 (GRCm39) |
K735N |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,118 (GRCm39) |
T185A |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,306 (GRCm39) |
C70R |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,434 (GRCm39) |
K145R |
probably benign |
Het |
| Pde1c |
T |
C |
6: 56,158,673 (GRCm39) |
T52A |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,019,076 (GRCm39) |
S802P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prep |
T |
A |
10: 44,991,282 (GRCm39) |
I316N |
probably damaging |
Het |
| Prl3d2 |
G |
A |
13: 27,310,014 (GRCm39) |
|
probably null |
Het |
| Pygo1 |
A |
T |
9: 72,852,319 (GRCm39) |
I169F |
probably benign |
Het |
| Rnf10 |
G |
T |
5: 115,380,725 (GRCm39) |
A716E |
probably benign |
Het |
| Rtn4 |
G |
A |
11: 29,656,409 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,778,199 (GRCm39) |
V2099E |
probably damaging |
Het |
| Slc48a1 |
G |
A |
15: 97,687,961 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,918,110 (GRCm39) |
Y364* |
probably null |
Het |
| Syt3 |
A |
T |
7: 44,035,486 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tango2 |
G |
T |
16: 18,125,857 (GRCm39) |
P143H |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,107 (GRCm39) |
S201P |
probably damaging |
Het |
| Tas2r107 |
G |
A |
6: 131,636,447 (GRCm39) |
L201F |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,374 (GRCm39) |
L78Q |
probably damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,508,072 (GRCm39) |
T351S |
probably benign |
Het |
|
| Other mutations in Adra1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02466:Adra1a
|
APN |
14 |
66,875,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
R5844:Adra1a
|
UTSW |
14 |
66,965,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation