Incidental Mutation 'R6978:Mchr1'
ID 542586
Institutional Source Beutler Lab
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
MMRRC Submission 045086-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6978 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 81119700-81123165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81121997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 249 (L249P)
Ref Sequence ENSEMBL: ENSMUSP00000126191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166855]
AlphaFold Q8JZL2
Predicted Effect possibly damaging
Transcript: ENSMUST00000166855
AA Change: L249P

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126191
Gene: ENSMUSG00000050164
AA Change: L249P

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
Meta Mutation Damage Score 0.1684 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprh C T 16: 38,266,171 (GRCm39) G324S probably damaging Het
Amfr T C 8: 94,727,015 (GRCm39) E140G probably damaging Het
Anapc1 G T 2: 128,511,820 (GRCm39) Q458K probably benign Het
Ap1g1 T C 8: 110,554,968 (GRCm39) probably null Het
Arhgap45 G T 10: 79,857,682 (GRCm39) V211F probably benign Het
Baz2b T C 2: 59,738,059 (GRCm39) E1750G possibly damaging Het
Cmpk2 A T 12: 26,527,018 (GRCm39) T336S probably damaging Het
Col6a3 C T 1: 90,735,192 (GRCm39) probably null Het
Cyp2c29 T C 19: 39,310,107 (GRCm39) L272P probably damaging Het
Cyp3a13 A T 5: 137,903,801 (GRCm39) S286T probably benign Het
Cyp4f18 T G 8: 72,756,340 (GRCm39) S79R probably benign Het
Dio1 T C 4: 107,164,030 (GRCm39) T96A probably benign Het
Dnah7a T C 1: 53,701,526 (GRCm39) I210V probably null Het
Epha4 A G 1: 77,354,220 (GRCm39) Y841H probably damaging Het
Gm12695 T C 4: 96,657,959 (GRCm39) D70G possibly damaging Het
Gtf3c1 G T 7: 125,244,706 (GRCm39) T1680K possibly damaging Het
Hnrnpul2 T C 19: 8,801,640 (GRCm39) V314A probably damaging Het
Irx3 G T 8: 92,527,356 (GRCm39) P116Q probably damaging Het
Lrp4 C T 2: 91,322,343 (GRCm39) R1060C probably damaging Het
Mark3 G A 12: 111,593,582 (GRCm39) V205I probably benign Het
Med26 T C 8: 73,250,427 (GRCm39) N224S possibly damaging Het
Megf9 C T 4: 70,351,766 (GRCm39) V452I probably benign Het
Mki67 T C 7: 135,303,691 (GRCm39) R726G probably benign Het
Mst1r T A 9: 107,789,793 (GRCm39) L583Q probably benign Het
Mybpc1 A G 10: 88,358,886 (GRCm39) C1102R probably damaging Het
Nr6a1 T C 2: 38,762,631 (GRCm39) T55A probably benign Het
Nup210l G A 3: 90,061,873 (GRCm39) R684Q possibly damaging Het
Or13a24 A C 7: 140,154,200 (GRCm39) I45L probably damaging Het
Or4f7 T A 2: 111,644,155 (GRCm39) L305F probably benign Het
Or6x1 C T 9: 40,099,085 (GRCm39) R225W probably damaging Het
Pgbd1 A G 13: 21,607,432 (GRCm39) L254P probably damaging Het
Pou6f2 A G 13: 18,347,063 (GRCm39) F10L probably damaging Het
Ppfia3 T A 7: 44,996,272 (GRCm39) T726S probably benign Het
Rab21 T A 10: 115,134,766 (GRCm39) M118L possibly damaging Het
Rbm6 T C 9: 107,729,774 (GRCm39) probably null Het
Rmc1 T C 18: 12,318,804 (GRCm39) Y430H probably benign Het
Rpp38 A G 2: 3,330,758 (GRCm39) L48P probably damaging Het
Sart3 A T 5: 113,883,807 (GRCm39) I735N probably damaging Het
Slc44a1 T A 4: 53,544,671 (GRCm39) Y461N probably damaging Het
Smok2b A T 17: 13,455,295 (GRCm39) *485L probably null Het
Speer4a2 C A 5: 26,291,454 (GRCm39) E117D probably damaging Het
Spink8 T C 9: 109,649,725 (GRCm39) V69A probably benign Het
Spred2 G A 11: 19,948,254 (GRCm39) R83Q possibly damaging Het
Tmc1 T C 19: 20,781,999 (GRCm39) N573S probably damaging Het
Tmem275 C T 4: 115,755,560 (GRCm39) Q120* probably null Het
Tox4 G T 14: 52,524,694 (GRCm39) probably null Het
Unc13c T C 9: 73,839,259 (GRCm39) S531G probably benign Het
Vmn2r56 C T 7: 12,449,333 (GRCm39) V302I probably benign Het
Ypel1 C T 16: 16,902,438 (GRCm39) A110V probably benign Het
Zfp395 G A 14: 65,623,882 (GRCm39) R117H probably benign Het
Zic5 T C 14: 122,696,960 (GRCm39) T552A unknown Het
Zic5 CGACGAGTAG C 14: 122,696,967 (GRCm39) probably benign Het
Other mutations in Mchr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01834:Mchr1 APN 15 81,122,066 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CACTCCTGTGTGGCTCTATG -3'
(R):5'- CTATGTACACAAAGGGATTGAGGC -3'

Sequencing Primer
(F):5'- GCTCTATGCCAGGCTTATCC -3'
(R):5'- CAAAGGGATTGAGGCAGCTGTTG -3'
Posted On 2018-11-28