Incidental Mutation 'R0786:Adrb3'
ID |
76861 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adrb3
|
Ensembl Gene |
ENSMUSG00000031489 |
Gene Name |
adrenergic receptor, beta 3 |
Synonyms |
Beta-3 AR, beta 3-AR, Beta-3 adrenoceptor, Adrb-3, beta3-adrenergic receptor |
MMRRC Submission |
038966-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.402)
|
Stock # |
R0786 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
27715804-27720833 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 27716880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081438]
[ENSMUST00000117565]
[ENSMUST00000121838]
[ENSMUST00000209299]
|
AlphaFold |
P25962 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081438
|
SMART Domains |
Protein: ENSMUSP00000080162 Gene: ENSMUSG00000031489
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
43 |
240 |
1.1e-6 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
45 |
357 |
2.3e-14 |
PFAM |
Pfam:7tm_1
|
51 |
343 |
9.3e-79 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000117565
AA Change: Y403C
|
SMART Domains |
Protein: ENSMUSP00000113732 Gene: ENSMUSG00000031489 AA Change: Y403C
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
43 |
240 |
1.8e-6 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
45 |
357 |
2.4e-14 |
PFAM |
Pfam:7tm_1
|
51 |
343 |
4.9e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121838
|
SMART Domains |
Protein: ENSMUSP00000113006 Gene: ENSMUSG00000031489
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
43 |
240 |
1.1e-6 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
45 |
357 |
2.3e-14 |
PFAM |
Pfam:7tm_1
|
51 |
343 |
9.3e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209685
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211346
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211002
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 92.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq, Feb 2009] PHENOTYPE: Homozygotes for targeted null mutations develop greater adiposity, especially on a high-fat diet, and are unresponsive to the beta3-adrenergic receptor agonist, CL316,243. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2b |
T |
C |
12: 105,602,767 (GRCm39) |
H1592R |
probably benign |
Het |
Bpifb1 |
C |
T |
2: 154,044,581 (GRCm39) |
A16V |
probably benign |
Het |
Cep57 |
T |
A |
9: 13,721,166 (GRCm39) |
Y271F |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,803,397 (GRCm39) |
N1548K |
possibly damaging |
Het |
Chrna6 |
A |
T |
8: 27,898,408 (GRCm39) |
D103E |
probably benign |
Het |
Clec12b |
T |
C |
6: 129,357,651 (GRCm39) |
N69S |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,209,815 (GRCm39) |
|
probably null |
Het |
Cwh43 |
T |
A |
5: 73,565,526 (GRCm39) |
Y30* |
probably null |
Het |
Dnai7 |
A |
G |
6: 145,127,483 (GRCm39) |
|
probably null |
Het |
Dsg4 |
T |
C |
18: 20,582,429 (GRCm39) |
|
probably null |
Het |
Efna3 |
T |
C |
3: 89,223,880 (GRCm39) |
N103S |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,725,400 (GRCm39) |
D532G |
possibly damaging |
Het |
Fam227a |
A |
T |
15: 79,510,469 (GRCm39) |
V395D |
probably benign |
Het |
Fes |
T |
A |
7: 80,036,668 (GRCm39) |
D93V |
probably damaging |
Het |
Gbp3 |
T |
A |
3: 142,276,732 (GRCm39) |
M510K |
possibly damaging |
Het |
Gpr12 |
A |
T |
5: 146,520,314 (GRCm39) |
S44T |
probably damaging |
Het |
Gpr179 |
T |
C |
11: 97,234,100 (GRCm39) |
N583S |
probably damaging |
Het |
Hipk1 |
T |
C |
3: 103,651,620 (GRCm39) |
T1093A |
probably benign |
Het |
Hspb1 |
T |
C |
5: 135,918,097 (GRCm39) |
L148P |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,946,161 (GRCm39) |
N640S |
probably damaging |
Het |
Mak |
G |
T |
13: 41,199,545 (GRCm39) |
Q365K |
probably benign |
Het |
Melk |
A |
G |
4: 44,303,649 (GRCm39) |
Y14C |
unknown |
Het |
Myh7 |
T |
C |
14: 55,230,330 (GRCm39) |
M1V |
probably null |
Het |
Nsmf |
A |
G |
2: 24,950,522 (GRCm39) |
Y330C |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,661,172 (GRCm39) |
F1592S |
possibly damaging |
Het |
Pnpla6 |
A |
T |
8: 3,573,317 (GRCm39) |
I394F |
probably benign |
Het |
Ppl |
T |
C |
16: 4,906,918 (GRCm39) |
R1126G |
probably damaging |
Het |
Prss8 |
C |
T |
7: 127,525,646 (GRCm39) |
R291Q |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rasgrp1 |
G |
T |
2: 117,130,980 (GRCm39) |
D155E |
probably benign |
Het |
Recql5 |
T |
C |
11: 115,786,628 (GRCm39) |
I563V |
probably benign |
Het |
Rhbg |
C |
T |
3: 88,151,875 (GRCm39) |
M394I |
probably benign |
Het |
Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
Smg9 |
T |
C |
7: 24,120,289 (GRCm39) |
F421S |
probably benign |
Het |
Tgm2 |
T |
C |
2: 157,966,301 (GRCm39) |
E451G |
probably damaging |
Het |
Tle1 |
T |
A |
4: 72,117,598 (GRCm39) |
T21S |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,226,433 (GRCm39) |
I266T |
possibly damaging |
Het |
Tmigd3 |
T |
A |
3: 105,824,318 (GRCm39) |
C96S |
probably damaging |
Het |
Trdn |
A |
T |
10: 33,181,077 (GRCm39) |
T361S |
probably benign |
Het |
Vgll3 |
A |
T |
16: 65,657,568 (GRCm39) |
Q261L |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,262,987 (GRCm39) |
I158K |
probably benign |
Het |
Zfp964 |
A |
G |
8: 70,116,731 (GRCm39) |
K444E |
possibly damaging |
Het |
|
Other mutations in Adrb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0639:Adrb3
|
UTSW |
8 |
27,718,293 (GRCm39) |
missense |
probably damaging |
0.97 |
R1370:Adrb3
|
UTSW |
8 |
27,717,798 (GRCm39) |
splice site |
probably null |
|
R1449:Adrb3
|
UTSW |
8 |
27,717,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R1874:Adrb3
|
UTSW |
8 |
27,717,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R3426:Adrb3
|
UTSW |
8 |
27,718,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R3428:Adrb3
|
UTSW |
8 |
27,718,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R4941:Adrb3
|
UTSW |
8 |
27,717,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R4989:Adrb3
|
UTSW |
8 |
27,717,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R4994:Adrb3
|
UTSW |
8 |
27,717,855 (GRCm39) |
splice site |
probably null |
|
R5133:Adrb3
|
UTSW |
8 |
27,717,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:Adrb3
|
UTSW |
8 |
27,717,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R5162:Adrb3
|
UTSW |
8 |
27,717,348 (GRCm39) |
missense |
probably benign |
0.25 |
R5342:Adrb3
|
UTSW |
8 |
27,716,809 (GRCm39) |
nonsense |
probably null |
|
R5656:Adrb3
|
UTSW |
8 |
27,717,405 (GRCm39) |
missense |
probably damaging |
0.99 |
R8159:Adrb3
|
UTSW |
8 |
27,718,099 (GRCm39) |
missense |
probably benign |
0.06 |
R9020:Adrb3
|
UTSW |
8 |
27,717,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCCCATAGGGTCCATCCTGCAC -3'
(R):5'- CCAATCCCTGGGTCTGAAGCAAAAG -3'
Sequencing Primer
(F):5'- AGTCCCACCCTATAGTTCTAATCCAG -3'
(R):5'- GGTCTGAAGCAAAAGGGAGG -3'
|
Posted On |
2013-10-16 |