Incidental Mutation 'IGL01834:Mchr1'
ID154893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mchr1
Ensembl Gene ENSMUSG00000050164
Gene Namemelanin-concentrating hormone receptor 1
Synonymsmelanin-concentrating hormone receptor 1, Gpr24-9, Gpr24, Mch1r, MCH-1R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL01834
Quality Score
Status
Chromosome15
Chromosomal Location81235499-81238964 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81237865 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 272 (Y272C)
Ref Sequence ENSEMBL: ENSMUSP00000126191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166855]
Predicted Effect probably damaging
Transcript: ENSMUST00000166855
AA Change: Y272C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126191
Gene: ENSMUSG00000050164
AA Change: Y272C

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 48 184 4e-6 PFAM
Pfam:7TM_GPCR_Srsx 51 325 3.6e-10 PFAM
Pfam:7tm_1 57 311 2.4e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230860
Coding Region Coverage
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, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for some alleles may display osteoporosis, resistance to diet-induced obesity, abnormal pyramidal neuron physiology, hyperactivity, polyphagia, increased heart rate and body temperature, sleep behavior, and impaired conditioned learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 A G 1: 58,309,024 I634V possibly damaging Het
Atp13a4 T G 16: 29,415,777 probably benign Het
BC049715 A T 6: 136,840,491 Q243L probably benign Het
C2cd6 G A 1: 58,997,445 probably benign Het
Cd2ap C T 17: 42,826,360 probably null Het
Cd2ap T A 17: 42,826,361 probably null Het
Cd86 G A 16: 36,607,119 R283W probably benign Het
CK137956 T A 4: 127,946,649 K421N probably damaging Het
Coro2b G A 9: 62,431,357 T193I possibly damaging Het
Dido1 G A 2: 180,684,031 probably benign Het
Fas A G 19: 34,318,603 T149A probably benign Het
Gbp4 T A 5: 105,125,602 I121F probably damaging Het
Hes3 C T 4: 152,287,100 A106T probably damaging Het
Hyal2 T C 9: 107,570,906 Y253H probably damaging Het
Kcnt1 T C 2: 25,912,719 probably null Het
Klhl12 C A 1: 134,489,420 R557S probably damaging Het
Kmt2c T C 5: 25,395,455 T315A probably benign Het
Mroh7 T C 4: 106,680,874 I1202V probably benign Het
Mrpl38 T A 11: 116,135,314 K87* probably null Het
Msh6 A G 17: 87,985,712 T632A probably damaging Het
Myo9b T C 8: 71,356,318 I1767T probably damaging Het
Myo9b C A 8: 71,355,257 H1630Q possibly damaging Het
Naprt A G 15: 75,893,799 F92S probably damaging Het
Nsd3 T A 8: 25,640,652 I11N probably damaging Het
Olfr290 A G 7: 84,916,652 Y291C probably damaging Het
Otof T C 5: 30,399,220 T306A probably damaging Het
Pcdh18 A G 3: 49,756,830 F12S probably benign Het
Pcdhb12 A T 18: 37,437,639 N613Y probably damaging Het
Polr1a T C 6: 71,948,462 I731T probably benign Het
Ptprd G A 4: 76,128,595 T465I probably damaging Het
Rabgap1 A G 2: 37,564,761 probably benign Het
Ryr2 T A 13: 11,595,425 I607L possibly damaging Het
Slc39a9 G A 12: 80,673,299 probably benign Het
Srek1 C A 13: 103,748,785 probably benign Het
Ssb A G 2: 69,870,803 T377A possibly damaging Het
Sympk G T 7: 19,043,435 A537S probably benign Het
Tcf20 A G 15: 82,855,697 S518P probably damaging Het
Ttc39d A G 17: 80,216,046 K45E probably benign Het
Vmn1r40 T C 6: 89,714,572 F124L possibly damaging Het
Vmn2r69 A G 7: 85,412,368 Y133H probably damaging Het
Vmn2r79 A T 7: 87,037,146 E578D probably benign Het
Vwf G A 6: 125,590,170 probably benign Het
Zbtb11 A G 16: 55,991,008 N510D probably benign Het
Other mutations in Mchr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Mchr1 APN 15 81237279 missense probably benign 0.36
Ketogenic UTSW 15 81237868 missense probably damaging 1.00
PIT4366001:Mchr1 UTSW 15 81237216 missense probably benign 0.01
R0412:Mchr1 UTSW 15 81235747 start gained probably benign
R1554:Mchr1 UTSW 15 81235820 missense probably benign 0.02
R1706:Mchr1 UTSW 15 81237163 missense probably damaging 0.99
R1771:Mchr1 UTSW 15 81237235 missense probably damaging 1.00
R5522:Mchr1 UTSW 15 81238010 missense possibly damaging 0.64
R5930:Mchr1 UTSW 15 81237843 missense probably damaging 1.00
R6516:Mchr1 UTSW 15 81237868 missense probably damaging 1.00
R6612:Mchr1 UTSW 15 81237870 missense probably damaging 0.99
R6978:Mchr1 UTSW 15 81237796 missense possibly damaging 0.90
R7583:Mchr1 UTSW 15 81237441 missense probably benign 0.29
Posted On2014-02-04