Incidental Mutation 'IGL02404:Gpr12'
ID |
291997 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpr12
|
Ensembl Gene |
ENSMUSG00000041468 |
Gene Name |
G-protein coupled receptor 12 |
Synonyms |
Gpcr12, Gpcr20, Gpcr01 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
IGL02404
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
146519208-146522049 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 146520733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 63
(A63V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143415
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036211]
[ENSMUST00000197431]
[ENSMUST00000197825]
[ENSMUST00000200112]
|
AlphaFold |
P35412 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036211
AA Change: A63V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038245 Gene: ENSMUSG00000041468 AA Change: A63V
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
56 |
236 |
2.9e-7 |
PFAM |
Pfam:7tm_1
|
61 |
301 |
5.3e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196096
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197431
AA Change: A63V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142889 Gene: ENSMUSG00000041468 AA Change: A63V
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
56 |
236 |
2.9e-7 |
PFAM |
Pfam:7tm_1
|
61 |
301 |
2.1e-38 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197825
AA Change: A63V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143415 Gene: ENSMUSG00000041468 AA Change: A63V
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
61 |
152 |
5.3e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200112
|
SMART Domains |
Protein: ENSMUSP00000143653 Gene: ENSMUSG00000041468
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
transmembrane domain
|
35 |
53 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200363
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in obesity, increased cholesterol, glucose and triglyceride levels and decreased energy expenditure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
T |
C |
15: 98,494,819 (GRCm39) |
I745V |
probably benign |
Het |
Alppl2 |
A |
G |
1: 87,016,585 (GRCm39) |
V163A |
possibly damaging |
Het |
Atad2b |
T |
A |
12: 4,991,972 (GRCm39) |
S190R |
probably benign |
Het |
Cep68 |
A |
G |
11: 20,190,004 (GRCm39) |
V336A |
possibly damaging |
Het |
Clcn4 |
A |
C |
7: 7,290,857 (GRCm39) |
N587K |
probably benign |
Het |
Clic1 |
A |
G |
17: 35,271,852 (GRCm39) |
E82G |
probably damaging |
Het |
Cnbd1 |
T |
C |
4: 18,895,047 (GRCm39) |
S232G |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,216,768 (GRCm39) |
I662T |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Daw1 |
A |
G |
1: 83,174,952 (GRCm39) |
T151A |
probably benign |
Het |
Dysf |
A |
G |
6: 84,093,043 (GRCm39) |
E1052G |
probably damaging |
Het |
Inmt |
C |
T |
6: 55,148,095 (GRCm39) |
R178Q |
possibly damaging |
Het |
Metap1 |
A |
T |
3: 138,195,069 (GRCm39) |
C22S |
probably damaging |
Het |
Mst1r |
A |
T |
9: 107,790,266 (GRCm39) |
|
probably benign |
Het |
Or2ag17 |
A |
C |
7: 106,389,566 (GRCm39) |
I214S |
probably damaging |
Het |
Phkb |
T |
C |
8: 86,604,744 (GRCm39) |
S58P |
possibly damaging |
Het |
Pigs |
T |
A |
11: 78,230,857 (GRCm39) |
I368N |
probably benign |
Het |
Plekhm1 |
C |
T |
11: 103,285,824 (GRCm39) |
D204N |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,764,431 (GRCm39) |
|
probably benign |
Het |
Rps4l |
A |
G |
6: 148,256,277 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
A |
15: 100,937,611 (GRCm39) |
M1660K |
probably damaging |
Het |
Sec31b |
A |
C |
19: 44,523,227 (GRCm39) |
V23G |
probably damaging |
Het |
Sorcs3 |
T |
C |
19: 48,692,809 (GRCm39) |
|
probably benign |
Het |
Thap12 |
A |
G |
7: 98,359,340 (GRCm39) |
Y73C |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,540,888 (GRCm39) |
C254Y |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,770,322 (GRCm39) |
N2623I |
possibly damaging |
Het |
Ulk1 |
A |
T |
5: 110,944,100 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
C |
4: 144,875,305 (GRCm39) |
Y1734C |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,113,171 (GRCm39) |
D143G |
possibly damaging |
Het |
Wac |
A |
G |
18: 7,917,570 (GRCm39) |
T347A |
probably damaging |
Het |
Wdr62 |
G |
T |
7: 29,967,298 (GRCm39) |
R319S |
probably damaging |
Het |
Zfp668 |
T |
C |
7: 127,465,532 (GRCm39) |
K551E |
probably damaging |
Het |
|
Other mutations in Gpr12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03225:Gpr12
|
APN |
5 |
146,520,761 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02799:Gpr12
|
UTSW |
5 |
146,520,629 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0380:Gpr12
|
UTSW |
5 |
146,520,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R0591:Gpr12
|
UTSW |
5 |
146,520,445 (GRCm39) |
missense |
probably benign |
0.00 |
R0786:Gpr12
|
UTSW |
5 |
146,520,314 (GRCm39) |
missense |
probably damaging |
0.96 |
R1432:Gpr12
|
UTSW |
5 |
146,520,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R5994:Gpr12
|
UTSW |
5 |
146,520,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R7069:Gpr12
|
UTSW |
5 |
146,520,349 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7269:Gpr12
|
UTSW |
5 |
146,520,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R7354:Gpr12
|
UTSW |
5 |
146,520,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R7863:Gpr12
|
UTSW |
5 |
146,520,370 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7938:Gpr12
|
UTSW |
5 |
146,520,094 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9360:Gpr12
|
UTSW |
5 |
146,520,299 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |