Incidental Mutation 'R8308:Pmch'
ID 641200
Institutional Source Beutler Lab
Gene Symbol Pmch
Ensembl Gene ENSMUSG00000035383
Gene Name pro-melanin-concentrating hormone
Synonyms A230109K23Rik, melanin-concentrating hormone, MCH
MMRRC Submission 067793-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8308 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 87926934-87928236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87927614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 105 (Y105C)
Ref Sequence ENSEMBL: ENSMUSP00000044352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048518] [ENSMUST00000048621]
AlphaFold P56942
Predicted Effect probably benign
Transcript: ENSMUST00000048518
SMART Domains Protein: ENSMUSP00000038375
Gene: ENSMUSG00000035365

DomainStartEndE-ValueType
SCOP:d1pjr_2 154 268 8e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000048621
AA Change: Y105C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044352
Gene: ENSMUSG00000035383
AA Change: Y105C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Pro-MCH 82 165 1.5e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a preproprotein that is cleaved to produce three mature peptides: melanin concentrating hormone, neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). The proprotein is processed differently depending on the tissue where it is expressed. Melanin concentrating hormone is involved in the regulation of food intake, energy homeostasis, and sleep-wake behavior. Disruption of this gene is associated with resistance to diet-induced obesity. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene eat less than normal and display increased oxygen consumption, which together results in lower body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,659,570 (GRCm39) D341G probably damaging Het
Abca17 T C 17: 24,486,657 (GRCm39) T1457A probably damaging Het
Acot8 A T 2: 164,646,663 (GRCm39) S25R probably benign Het
Ap2a2 T C 7: 141,210,212 (GRCm39) V850A probably benign Het
Baiap2l1 T A 5: 144,214,487 (GRCm39) E402D probably benign Het
Bptf T C 11: 106,943,815 (GRCm39) K2689E probably damaging Het
Cdh22 C A 2: 164,954,098 (GRCm39) D808Y probably damaging Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Cipc A G 12: 87,008,809 (GRCm39) T223A probably benign Het
Crem G T 18: 3,295,397 (GRCm39) T57K possibly damaging Het
Cyp17a1 T A 19: 46,656,516 (GRCm39) I393F probably benign Het
Dgcr2 C T 16: 17,676,242 (GRCm39) G176D probably benign Het
Dock3 C A 9: 106,790,371 (GRCm39) V1451L probably benign Het
Dsg2 C T 18: 20,708,121 (GRCm39) P74L probably benign Het
Ece1 T C 4: 137,664,075 (GRCm39) V224A probably damaging Het
Flg A T 3: 93,190,586 (GRCm39) S152C unknown Het
Gcsam A T 16: 45,430,902 (GRCm39) N3I probably damaging Het
Gm10188 C T 1: 132,157,310 (GRCm39) V19I unknown Het
Gpr27 T C 6: 99,670,217 (GRCm39) L193P probably damaging Het
Grin2b A T 6: 135,900,074 (GRCm39) V269E probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Kif14 A G 1: 136,443,651 (GRCm39) I1275V possibly damaging Het
Krt27 T C 11: 99,239,862 (GRCm39) E234G probably benign Het
Lmo7 T C 14: 102,139,807 (GRCm39) probably null Het
Matk T G 10: 81,094,121 (GRCm39) S18A probably benign Het
Mbd3l1 A G 9: 18,395,886 (GRCm39) T4A probably benign Het
Mettl23 G A 11: 116,739,185 (GRCm39) probably null Het
Ncam1 A T 9: 49,479,817 (GRCm39) W54R probably damaging Het
Olfm5 A G 7: 103,803,606 (GRCm39) Y286H probably damaging Het
Or10d5j T A 9: 39,868,265 (GRCm39) M1L probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or4q3 T C 14: 50,582,922 (GRCm39) I326V probably benign Het
Or5ac15 C T 16: 58,939,899 (GRCm39) C178Y probably damaging Het
Prg3 A G 2: 84,819,676 (GRCm39) T57A probably benign Het
Ptpn13 A G 5: 103,688,838 (GRCm39) E877G probably damaging Het
Ptprt A G 2: 161,769,566 (GRCm39) V433A probably benign Het
Rufy1 A T 11: 50,297,233 (GRCm39) D406E probably benign Het
Scara5 C T 14: 65,927,234 (GRCm39) R44W probably damaging Het
Scg2 T G 1: 79,414,576 (GRCm39) K49T probably benign Het
Slc40a1 A G 1: 45,950,180 (GRCm39) I424T probably benign Het
Slc4a8 T A 15: 100,693,735 (GRCm39) S479T probably damaging Het
Sorl1 T C 9: 41,929,456 (GRCm39) D1139G probably damaging Het
Srcap A G 7: 127,152,353 (GRCm39) I2206V possibly damaging Het
Tpk1 T C 6: 43,642,711 (GRCm39) E9G probably benign Het
Ttn C T 2: 76,642,645 (GRCm39) V13297I possibly damaging Het
Uchl3 T C 14: 101,932,655 (GRCm39) probably null Het
Usp12 T C 5: 146,688,751 (GRCm39) D201G probably damaging Het
Vmn1r193 C T 13: 22,403,146 (GRCm39) R282H probably benign Het
Vmn2r104 T C 17: 20,261,040 (GRCm39) D461G possibly damaging Het
Zfp131 A G 13: 120,244,440 (GRCm39) M80T possibly damaging Het
Zfp457 A G 13: 67,441,663 (GRCm39) L304P probably benign Het
Zswim3 A G 2: 164,663,566 (GRCm39) E682G probably damaging Het
Other mutations in Pmch
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0383:Pmch UTSW 10 87,927,120 (GRCm39) missense possibly damaging 0.67
R0505:Pmch UTSW 10 87,927,221 (GRCm39) missense probably benign 0.00
R0525:Pmch UTSW 10 87,927,262 (GRCm39) splice site probably benign
R0836:Pmch UTSW 10 87,927,086 (GRCm39) missense probably benign 0.00
R5454:Pmch UTSW 10 87,927,707 (GRCm39) missense probably damaging 1.00
R5933:Pmch UTSW 10 87,927,011 (GRCm39) missense probably benign
R6189:Pmch UTSW 10 87,927,248 (GRCm39) critical splice donor site probably null
R7714:Pmch UTSW 10 87,927,242 (GRCm39) missense probably benign
R7780:Pmch UTSW 10 87,927,113 (GRCm39) missense probably benign 0.30
R8267:Pmch UTSW 10 87,926,979 (GRCm39) start gained probably benign
Z1176:Pmch UTSW 10 87,927,695 (GRCm39) missense not run
Z1177:Pmch UTSW 10 87,927,695 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- TCACATGTTGGGAGGTGAACG -3'
(R):5'- AGATCCAACTCATTTAAGCTCAGAG -3'

Sequencing Primer
(F):5'- AACGCAGTGTAGAGCTTCTTAG -3'
(R):5'- CTCTCCTTCCTATGGGAAA -3'
Posted On 2020-07-28