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 |
Incidental Mutation