Incidental Mutation 'R5454:Pmch'
ID 432681
Institutional Source Beutler Lab
Gene Symbol Pmch
Ensembl Gene ENSMUSG00000035383
Gene Name pro-melanin-concentrating hormone
Synonyms A230109K23Rik, melanin-concentrating hormone, MCH
MMRRC Submission 043018-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5454 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 87926934-87928236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87927707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 136 (E136G)
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: E136G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044352
Gene: ENSMUSG00000035383
AA Change: E136G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Pro-MCH 82 165 1.5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220444
Meta Mutation Damage Score 0.6240 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (60/60)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T C 9: 89,051,041 (GRCm39) noncoding transcript Het
Ankfy1 A T 11: 72,637,757 (GRCm39) H483L probably benign Het
Ankrd46 C T 15: 36,479,447 (GRCm39) G215R probably damaging Het
Apobec1 T C 6: 122,558,327 (GRCm39) I143V probably benign Het
Atp2b4 C A 1: 133,657,610 (GRCm39) V627F probably damaging Het
Ccdc80 T A 16: 44,947,588 (GRCm39) Y855* probably null Het
Cd209b T C 8: 3,975,396 (GRCm39) E88G probably damaging Het
Ceacam14 T G 7: 17,548,110 (GRCm39) W67G probably damaging Het
Cope T C 8: 70,757,306 (GRCm39) V50A probably benign Het
Dcaf13 C A 15: 38,987,759 (GRCm39) D168E probably benign Het
Dhcr7 T G 7: 143,391,576 (GRCm39) M55R probably damaging Het
Enpp7 A T 11: 118,879,634 (GRCm39) Y96F probably benign Het
Esco1 T C 18: 10,584,327 (GRCm39) D60G probably benign Het
Fgfr3 G A 5: 33,880,642 (GRCm39) probably benign Het
Frzb T C 2: 80,248,259 (GRCm39) D280G probably damaging Het
Gcat A G 15: 78,920,610 (GRCm39) I317V probably benign Het
Gm13030 A T 4: 138,600,820 (GRCm39) probably benign Het
Gmds A G 13: 32,312,024 (GRCm39) L135P probably damaging Het
Htra2 G A 6: 83,030,995 (GRCm39) P138L probably damaging Het
Il5 A G 11: 53,614,626 (GRCm39) N89S probably damaging Het
Ints3 G A 3: 90,315,834 (GRCm39) T310M possibly damaging Het
Itih2 T C 2: 10,102,804 (GRCm39) I777V probably null Het
Kctd9 T C 14: 67,977,836 (GRCm39) L382S probably damaging Het
Loricrin A G 3: 91,988,789 (GRCm39) S166P unknown Het
Mga T A 2: 119,733,810 (GRCm39) N219K probably damaging Het
Mtmr4 A T 11: 87,501,868 (GRCm39) R641* probably null Het
Muc6 C T 7: 141,235,078 (GRCm39) A611T possibly damaging Het
Obox3-ps8 A T 17: 36,763,903 (GRCm39) noncoding transcript Het
Or5p54 A T 7: 107,554,096 (GRCm39) M83L probably benign Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pcdhga12 T A 18: 37,899,314 (GRCm39) S49T possibly damaging Het
Pcdhgc3 A G 18: 37,941,549 (GRCm39) D650G probably damaging Het
Pcmt1 A G 10: 7,516,509 (GRCm39) V167A probably damaging Het
Pcnt A T 10: 76,225,381 (GRCm39) probably null Het
Pcx G T 19: 4,652,504 (GRCm39) V164F probably damaging Het
Plekhg4 T C 8: 106,102,745 (GRCm39) probably null Het
Prkar1a A G 11: 109,550,886 (GRCm39) D80G probably benign Het
Ryr3 T C 2: 112,560,647 (GRCm39) probably null Het
Slc10a7 T C 8: 79,413,253 (GRCm39) S171P possibly damaging Het
Sox6 A T 7: 115,301,008 (GRCm39) M153K possibly damaging Het
Srgap2 T C 1: 131,217,475 (GRCm39) I946V probably benign Het
Strbp T C 2: 37,535,495 (GRCm39) E71G probably benign Het
Synpo2l C A 14: 20,712,360 (GRCm39) A87S probably damaging Het
Tnrc18 T C 5: 142,757,446 (GRCm39) D1025G unknown Het
Tnxb A G 17: 34,928,599 (GRCm39) H2671R possibly damaging Het
Tor1b GGACG GG 2: 30,846,957 (GRCm39) probably benign Het
Umodl1 A T 17: 31,205,439 (GRCm39) D649V possibly damaging Het
Usp13 G T 3: 32,959,585 (GRCm39) A559S probably damaging Het
Vps45 G A 3: 95,926,969 (GRCm39) P526L probably benign Het
Zfp687 A G 3: 94,916,457 (GRCm39) V855A probably damaging Het
Zfp771 T A 7: 126,853,448 (GRCm39) C205S 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
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
R8308:Pmch UTSW 10 87,927,614 (GRCm39) missense probably damaging 0.99
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'- TCTTCACAGAACACAGGCTC -3'
(R):5'- TGTGGACTTACAACGAATCCAG -3'

Sequencing Primer
(F):5'- GGCTCCAAACAGAATCTTGTAACTC -3'
(R):5'- CAACGAATCCAGAATAAATCAAACTC -3'
Posted On 2016-10-06