Incidental Mutation 'IGL01834:Mchr1'
ID 154893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mchr1
Ensembl Gene ENSMUSG00000050164
Gene Name melanin-concentrating hormone receptor 1
Synonyms Mch1r, Gpr24, Gpr24-9, MCH-1R, melanin-concentrating hormone receptor 1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01834
Quality Score
Status
Chromosome 15
Chromosomal Location 81119700-81123165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81122066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 272 (Y272C)
Ref Sequence ENSEMBL: ENSMUSP00000126191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166855]
AlphaFold Q8JZL2
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
Aox1 A G 1: 58,348,183 (GRCm39) I634V possibly damaging Het
Atp13a4 T G 16: 29,234,595 (GRCm39) probably benign Het
BC049715 A T 6: 136,817,489 (GRCm39) Q243L probably benign Het
C2cd6 G A 1: 59,036,604 (GRCm39) probably benign Het
Cd2ap C T 17: 43,137,251 (GRCm39) probably null Het
Cd2ap T A 17: 43,137,252 (GRCm39) probably null Het
Cd86 G A 16: 36,427,481 (GRCm39) R283W probably benign Het
CK137956 T A 4: 127,840,442 (GRCm39) K421N probably damaging Het
Coro2b G A 9: 62,338,639 (GRCm39) T193I possibly damaging Het
Dido1 G A 2: 180,325,824 (GRCm39) probably benign Het
Fas A G 19: 34,296,003 (GRCm39) T149A probably benign Het
Gbp4 T A 5: 105,273,468 (GRCm39) I121F probably damaging Het
Hes3 C T 4: 152,371,557 (GRCm39) A106T probably damaging Het
Hyal2 T C 9: 107,448,105 (GRCm39) Y253H probably damaging Het
Kcnt1 T C 2: 25,802,731 (GRCm39) probably null Het
Klhl12 C A 1: 134,417,158 (GRCm39) R557S probably damaging Het
Kmt2c T C 5: 25,600,453 (GRCm39) T315A probably benign Het
Mroh7 T C 4: 106,538,071 (GRCm39) I1202V probably benign Het
Mrpl38 T A 11: 116,026,140 (GRCm39) K87* probably null Het
Msh6 A G 17: 88,293,140 (GRCm39) T632A probably damaging Het
Myo9b C A 8: 71,807,901 (GRCm39) H1630Q possibly damaging Het
Myo9b T C 8: 71,808,962 (GRCm39) I1767T probably damaging Het
Naprt A G 15: 75,765,648 (GRCm39) F92S probably damaging Het
Nsd3 T A 8: 26,130,668 (GRCm39) I11N probably damaging Het
Or5ae1 A G 7: 84,565,860 (GRCm39) Y291C probably damaging Het
Otof T C 5: 30,556,564 (GRCm39) T306A probably damaging Het
Pcdh18 A G 3: 49,711,279 (GRCm39) F12S probably benign Het
Pcdhb12 A T 18: 37,570,692 (GRCm39) N613Y probably damaging Het
Polr1a T C 6: 71,925,446 (GRCm39) I731T probably benign Het
Ptprd G A 4: 76,046,832 (GRCm39) T465I probably damaging Het
Rabgap1 A G 2: 37,454,773 (GRCm39) probably benign Het
Ryr2 T A 13: 11,610,311 (GRCm39) I607L possibly damaging Het
Slc39a9 G A 12: 80,720,073 (GRCm39) probably benign Het
Srek1 C A 13: 103,885,293 (GRCm39) probably benign Het
Ssb A G 2: 69,701,147 (GRCm39) T377A possibly damaging Het
Sympk G T 7: 18,777,360 (GRCm39) A537S probably benign Het
Tcf20 A G 15: 82,739,898 (GRCm39) S518P probably damaging Het
Ttc39d A G 17: 80,523,475 (GRCm39) K45E probably benign Het
Vmn1r40 T C 6: 89,691,554 (GRCm39) F124L possibly damaging Het
Vmn2r69 A G 7: 85,061,576 (GRCm39) Y133H probably damaging Het
Vmn2r79 A T 7: 86,686,354 (GRCm39) E578D probably benign Het
Vwf G A 6: 125,567,133 (GRCm39) probably benign Het
Zbtb11 A G 16: 55,811,371 (GRCm39) N510D probably benign Het
Other mutations in Mchr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Mchr1 APN 15 81,121,480 (GRCm39) missense probably benign 0.36
Ketogenic UTSW 15 81,122,069 (GRCm39) missense probably damaging 1.00
PIT4366001:Mchr1 UTSW 15 81,121,417 (GRCm39) missense probably benign 0.01
R0412:Mchr1 UTSW 15 81,119,948 (GRCm39) start gained probably benign
R1554:Mchr1 UTSW 15 81,120,021 (GRCm39) missense probably benign 0.02
R1706:Mchr1 UTSW 15 81,121,364 (GRCm39) missense probably damaging 0.99
R1771:Mchr1 UTSW 15 81,121,436 (GRCm39) missense probably damaging 1.00
R5522:Mchr1 UTSW 15 81,122,211 (GRCm39) missense possibly damaging 0.64
R5930:Mchr1 UTSW 15 81,122,044 (GRCm39) missense probably damaging 1.00
R6516:Mchr1 UTSW 15 81,122,069 (GRCm39) missense probably damaging 1.00
R6612:Mchr1 UTSW 15 81,122,071 (GRCm39) missense probably damaging 0.99
R6978:Mchr1 UTSW 15 81,121,997 (GRCm39) missense possibly damaging 0.90
R7583:Mchr1 UTSW 15 81,121,642 (GRCm39) missense probably benign 0.29
R9074:Mchr1 UTSW 15 81,119,980 (GRCm39) missense probably benign
R9444:Mchr1 UTSW 15 81,121,919 (GRCm39) missense possibly damaging 0.90
Posted On 2014-02-04