Incidental Mutation 'IGL02404:Gpr12'
ID291997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr12
Ensembl Gene ENSMUSG00000041468
Gene NameG-protein coupled receptor 12
SynonymsGpcr12, Gpcr01, Gpcr20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #IGL02404
Quality Score
Status
Chromosome5
Chromosomal Location146582398-146585239 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 146583923 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:7tm_1 61 152 5.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200112
SMART Domains Protein: ENSMUSP00000143653
Gene: ENSMUSG00000041468

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,187,284 I662T possibly damaging Het
Adcy6 T C 15: 98,596,938 I745V probably benign Het
Alppl2 A G 1: 87,088,863 V163A possibly damaging Het
Atad2b T A 12: 4,941,972 S190R probably benign Het
Cep68 A G 11: 20,240,004 V336A possibly damaging Het
Clcn4 A C 7: 7,287,858 N587K probably benign Het
Clic1 A G 17: 35,052,876 E82G probably damaging Het
Cnbd1 T C 4: 18,895,047 S232G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Daw1 A G 1: 83,197,231 T151A probably benign Het
Dysf A G 6: 84,116,061 E1052G probably damaging Het
Inmt C T 6: 55,171,110 R178Q possibly damaging Het
Metap1 A T 3: 138,489,308 C22S probably damaging Het
Mst1r A T 9: 107,913,067 probably benign Het
Olfr699 A C 7: 106,790,359 I214S probably damaging Het
Phkb T C 8: 85,878,115 S58P possibly damaging Het
Pigs T A 11: 78,340,031 I368N probably benign Het
Plekhm1 C T 11: 103,394,998 D204N probably benign Het
Pot1a A T 6: 25,764,432 probably benign Het
Rps4l A G 6: 148,354,779 probably benign Het
Scn8a T A 15: 101,039,730 M1660K probably damaging Het
Sec31b A C 19: 44,534,788 V23G probably damaging Het
Sorcs3 T C 19: 48,704,370 probably benign Het
Thap12 A G 7: 98,710,133 Y73C probably damaging Het
Thsd7b G A 1: 129,613,151 C254Y probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttn T A 2: 76,939,978 N2623I possibly damaging Het
Ulk1 A T 5: 110,796,234 probably null Het
Vps13d T C 4: 145,148,735 Y1734C probably damaging Het
Vsig10l A G 7: 43,463,747 D143G possibly damaging Het
Wac A G 18: 7,917,570 T347A probably damaging Het
Wdr62 G T 7: 30,267,873 R319S probably damaging Het
Zfp668 T C 7: 127,866,360 K551E probably damaging Het
Other mutations in Gpr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03225:Gpr12 APN 5 146583951 missense probably damaging 1.00
IGL02799:Gpr12 UTSW 5 146583819 missense possibly damaging 0.92
R0380:Gpr12 UTSW 5 146583336 missense probably damaging 1.00
R0591:Gpr12 UTSW 5 146583635 missense probably benign 0.00
R0786:Gpr12 UTSW 5 146583504 missense probably damaging 0.96
R1432:Gpr12 UTSW 5 146583425 missense probably damaging 1.00
R5994:Gpr12 UTSW 5 146583431 missense probably damaging 1.00
R7069:Gpr12 UTSW 5 146583539 missense possibly damaging 0.96
R7269:Gpr12 UTSW 5 146583378 missense probably damaging 1.00
R7354:Gpr12 UTSW 5 146583962 missense probably damaging 1.00
R7863:Gpr12 UTSW 5 146583560 missense possibly damaging 0.87
R7946:Gpr12 UTSW 5 146583560 missense possibly damaging 0.87
Posted On2015-04-16