Incidental Mutation 'R5522:Mchr1'
ID 431636
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 043081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5522 (G1)
Quality Score 124
Status Not validated
Chromosome 15
Chromosomal Location 81119700-81123165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81122211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 320 (K320N)
Ref Sequence ENSEMBL: ENSMUSP00000126191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166855]
AlphaFold Q8JZL2
Predicted Effect possibly damaging
Transcript: ENSMUST00000166855
AA Change: K320N

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126191
Gene: ENSMUSG00000050164
AA Change: K320N

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
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 93.9%
  • 20x: 85.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T C 8: 84,649,704 (GRCm39) Y121H possibly damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Atp13a2 T A 4: 140,731,671 (GRCm39) probably null Het
Cd69 A T 6: 129,248,379 (GRCm39) S36T probably damaging Het
Ceacam5 A T 7: 17,449,005 (GRCm39) I124L probably benign Het
Cerkl T C 2: 79,223,328 (GRCm39) H131R probably benign Het
Cfap57 A T 4: 118,453,085 (GRCm39) N539K probably benign Het
Cyp4x1 C A 4: 114,979,174 (GRCm39) W141L probably damaging Het
Dlgap1 T C 17: 70,823,993 (GRCm39) probably null Het
Dnaaf9 G A 2: 130,656,222 (GRCm39) probably benign Het
Dst T C 1: 34,296,954 (GRCm39) I5781T possibly damaging Het
Epha2 T A 4: 141,035,867 (GRCm39) V101E probably damaging Het
Exph5 T C 9: 53,285,613 (GRCm39) F898S possibly damaging Het
Fyco1 G A 9: 123,623,836 (GRCm39) R1398* probably null Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Grb10 T C 11: 11,886,746 (GRCm39) I508V probably benign Het
Igf1r C A 7: 67,833,258 (GRCm39) Q473K probably damaging Het
Ighv1-66 T A 12: 115,556,755 (GRCm39) D109V probably damaging Het
Ipmk C A 10: 71,199,304 (GRCm39) T55K probably benign Het
Kdm2b A G 5: 123,087,225 (GRCm39) Y192H probably damaging Het
Krt32 A T 11: 99,977,497 (GRCm39) probably null Het
Kti12 T A 4: 108,705,620 (GRCm39) L178Q possibly damaging Het
Mdn1 T C 4: 32,685,783 (GRCm39) L858S probably damaging Het
Myo3a T A 2: 22,464,353 (GRCm39) F198Y probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfatc1 T C 18: 80,696,744 (GRCm39) T647A probably benign Het
Nuf2 A G 1: 169,326,453 (GRCm39) Y433H probably damaging Het
Nup210l T C 3: 90,061,972 (GRCm39) V717A probably benign Het
Or3a1b A G 11: 74,012,484 (GRCm39) Y123C probably damaging Het
Or5h17 A T 16: 58,820,268 (GRCm39) L73F probably benign Het
Or6c35 A T 10: 129,168,798 (GRCm39) D16V probably damaging Het
Pbrm1 A G 14: 30,811,520 (GRCm39) Y1210C probably damaging Het
Pcdhb6 A G 18: 37,467,402 (GRCm39) I108V probably benign Het
Plac8 T A 5: 100,710,584 (GRCm39) T6S probably benign Het
Plbd1 A T 6: 136,594,298 (GRCm39) V317E probably benign Het
Rars1 A T 11: 35,708,195 (GRCm39) Y406* probably null Het
Scamp3 T C 3: 89,084,929 (GRCm39) F11L possibly damaging Het
Sctr A G 1: 119,964,146 (GRCm39) N142S probably benign Het
Sh2d4a T C 8: 68,749,349 (GRCm39) S128P probably benign Het
Snrnp70 C T 7: 45,026,601 (GRCm39) probably benign Het
Taf3 T C 2: 9,945,816 (GRCm39) K596R probably damaging Het
Tango6 T C 8: 107,422,230 (GRCm39) probably null Het
Taok3 A G 5: 117,411,822 (GRCm39) T414A probably benign Het
Tmem104 G A 11: 115,079,149 (GRCm39) probably null Het
Tmem231 T A 8: 112,645,042 (GRCm39) S155C possibly damaging Het
Tssk3 G A 4: 129,383,343 (GRCm39) R110W possibly damaging Het
Ugt2b37 T C 5: 87,388,759 (GRCm39) T485A probably benign Het
Unc5b T C 10: 60,613,974 (GRCm39) K292E possibly damaging Het
Upf3a T A 8: 13,845,497 (GRCm39) probably null Het
Usp24 T A 4: 106,229,918 (GRCm39) V797E probably damaging Het
Vcan T C 13: 89,839,929 (GRCm39) T1872A possibly damaging Het
Vmn1r195 A G 13: 22,463,120 (GRCm39) M197V probably damaging Het
Vmn2r40 T A 7: 8,911,203 (GRCm39) T697S probably benign Het
Xab2 A T 8: 3,661,718 (GRCm39) D578E probably benign Het
Xpo7 A T 14: 70,909,090 (GRCm39) Y810* probably null Het
Zcchc2 A G 1: 105,951,426 (GRCm39) N587S probably benign Het
Zfp189 C T 4: 49,529,739 (GRCm39) R281* probably null Het
Zranb1 T C 7: 132,585,678 (GRCm39) *735R probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGCCATTGCCATCTGTCTGG -3'
(R):5'- GAATGTGGTTTGCTACAAGCC -3'

Sequencing Primer
(F):5'- GCCATCTGTCTGGTCTTCTTTGTG -3'
(R):5'- TGGTTTGCTACAAGCCCCCAG -3'
Posted On 2016-10-05