Incidental Mutation 'R0380:Gpr12'
ID 30918
Institutional Source Beutler Lab
Gene Symbol Gpr12
Ensembl Gene ENSMUSG00000041468
Gene Name G-protein coupled receptor 12
Synonyms Gpcr12, Gpcr20, Gpcr01
MMRRC Submission 038586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R0380 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 146519208-146522049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146520146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 259 (T259S)
Ref Sequence ENSEMBL: ENSMUSP00000142889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036211] [ENSMUST00000197431] [ENSMUST00000197825] [ENSMUST00000200112]
AlphaFold P35412
Predicted Effect probably damaging
Transcript: ENSMUST00000036211
AA Change: T259S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038245
Gene: ENSMUSG00000041468
AA Change: T259S

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: T259S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142889
Gene: ENSMUSG00000041468
AA Change: T259S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 56 236 2.9e-7 PFAM
Pfam:7tm_1 61 301 2.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197825
SMART Domains Protein: ENSMUSP00000143415
Gene: ENSMUSG00000041468

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
Meta Mutation Damage Score 0.2080 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,538,500 (GRCm39) probably null Het
Abca14 A T 7: 119,877,703 (GRCm39) I1073L probably benign Het
Adamts17 C T 7: 66,799,792 (GRCm39) P1116L probably benign Het
Adgrb2 C G 4: 129,901,624 (GRCm39) P416R probably damaging Het
Ano4 A G 10: 88,814,675 (GRCm39) I671T possibly damaging Het
Aoc1l1 A G 6: 48,952,773 (GRCm39) I233V probably benign Het
Ap1g1 A G 8: 110,529,796 (GRCm39) probably benign Het
Arhgap19 A G 19: 41,761,576 (GRCm39) probably benign Het
Arhgap32 C T 9: 32,157,773 (GRCm39) R129W probably damaging Het
Atp10b G T 11: 43,116,424 (GRCm39) A924S probably damaging Het
Ccdc180 T A 4: 45,930,197 (GRCm39) probably null Het
Cckbr A G 7: 105,084,198 (GRCm39) T311A probably benign Het
Cr2 C T 1: 194,839,715 (GRCm39) G947R probably damaging Het
Cyp2g1 T A 7: 26,513,720 (GRCm39) probably benign Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
Dscam A G 16: 96,857,810 (GRCm39) Y67H probably damaging Het
Dsg2 T A 18: 20,715,996 (GRCm39) Y282* probably null Het
Epg5 T C 18: 78,004,056 (GRCm39) L688P probably damaging Het
Esr2 T G 12: 76,170,065 (GRCm39) E458A possibly damaging Het
Fat1 T C 8: 45,463,160 (GRCm39) S1326P probably damaging Het
Flt1 A G 5: 147,525,382 (GRCm39) S919P probably damaging Het
Grm5 T A 7: 87,723,584 (GRCm39) C625S possibly damaging Het
H2-Q1 C T 17: 35,542,054 (GRCm39) H209Y probably damaging Het
Hcfc2 C A 10: 82,564,272 (GRCm39) probably benign Het
Itgal C A 7: 126,909,923 (GRCm39) Y495* probably null Het
Kbtbd3 T A 9: 4,330,545 (GRCm39) Y306* probably null Het
Kcns2 T C 15: 34,839,318 (GRCm39) F227S possibly damaging Het
Kif1a T A 1: 92,983,753 (GRCm39) probably null Het
Maml2 C T 9: 13,532,396 (GRCm39) R537* probably null Het
Muc4 G A 16: 32,574,333 (GRCm39) A928T probably benign Het
Nav3 A G 10: 109,594,740 (GRCm39) probably benign Het
Neb A T 2: 52,122,214 (GRCm39) M605K probably damaging Het
Or2c1 A T 16: 3,656,849 (GRCm39) D4V probably benign Het
Pcdhb3 T G 18: 37,435,210 (GRCm39) I392S possibly damaging Het
Prune2 A G 19: 17,101,371 (GRCm39) T2292A probably damaging Het
Rbbp8nl A T 2: 179,923,512 (GRCm39) M108K probably damaging Het
Rbm25 A G 12: 83,707,130 (GRCm39) T259A probably benign Het
Recql C A 6: 142,315,156 (GRCm39) R243L probably damaging Het
Rsf1 TGGCG TGGCGACGGCGGCG 7: 97,229,112 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,878,551 (GRCm39) probably null Het
Slc16a14 T A 1: 84,907,251 (GRCm39) I8F possibly damaging Het
Spef1 G T 2: 131,014,332 (GRCm39) probably benign Het
Tas2r103 A G 6: 133,013,166 (GRCm39) L300P probably damaging Het
Tas2r117 A T 6: 132,780,551 (GRCm39) R230* probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thnsl2 A T 6: 71,118,314 (GRCm39) L38Q probably damaging Het
Tmem171 G T 13: 98,828,535 (GRCm39) T205K possibly damaging Het
Tmem232 A T 17: 65,563,443 (GRCm39) L650Q probably benign Het
Tpr T A 1: 150,288,698 (GRCm39) D518E probably benign Het
Tsen54 T C 11: 115,713,423 (GRCm39) V442A probably damaging Het
Tshz3 A T 7: 36,470,725 (GRCm39) I905F probably damaging Het
Vmn1r66 C T 7: 10,008,670 (GRCm39) C121Y probably benign Het
Wdfy3 T C 5: 102,096,832 (GRCm39) Q322R probably damaging Het
Wdr64 T C 1: 175,597,208 (GRCm39) probably benign Het
Other mutations in Gpr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02404:Gpr12 APN 5 146,520,733 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGAAGGCTGCTACACATCGCTG -3'
(R):5'- CGCTATATTACGCCCTGACGTACC -3'

Sequencing Primer
(F):5'- CTACACATCGCTGGGAGAC -3'
(R):5'- GTGGTCAGACCTCTCACTAAG -3'
Posted On 2013-04-24