Incidental Mutation 'R7029:Pomc'
ID 546191
Institutional Source Beutler Lab
Gene Symbol Pomc
Ensembl Gene ENSMUSG00000020660
Gene Name pro-opiomelanocortin-alpha
Synonyms POMC, gamma-melanocyte stimulating hormone, beta-MSH, gamma-MSH, ACTH, adrenal corticotropic hormone, beta-melanocyte stimulating hormone, alpha-melanocyte stimulating hormone, BE, alpha-MSH, alphaMSH, Pomc-1, beta-endorphin
MMRRC Submission 045130-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R7029 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 4004951-4010642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4010146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 129 (H129R)
Ref Sequence ENSEMBL: ENSMUSP00000151504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020990] [ENSMUST00000111178] [ENSMUST00000218089] [ENSMUST00000218166] [ENSMUST00000218169] [ENSMUST00000219543] [ENSMUST00000220006]
AlphaFold P01193
Predicted Effect probably damaging
Transcript: ENSMUST00000020990
AA Change: H129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020990
Gene: ENSMUSG00000020660
AA Change: H129R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
NPP 27 71 1.55e-22 SMART
Pfam:ACTH_domain 74 91 1.1e-8 PFAM
ACTH_domain 124 162 3.3e-17 SMART
low complexity region 164 175 N/A INTRINSIC
ACTH_domain 188 226 8.53e3 SMART
Op_neuropeptide 205 233 3.98e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111178
SMART Domains Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658

DomainStartEndE-ValueType
SCOP:d1qbkb_ 55 306 1e-3 SMART
low complexity region 591 602 N/A INTRINSIC
low complexity region 736 749 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000218089
AA Change: H129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218166
Predicted Effect probably benign
Transcript: ENSMUST00000218169
Predicted Effect probably damaging
Transcript: ENSMUST00000219543
AA Change: H129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000220006
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing. Processing yields several biologically active peptides, which are involved in diverse cellular functions, such as energy homeostasis, steroidogenesis, and increased melanin production in melanocytes. In mouse deficiency of this gene is associated with obesity, defects in adrenal development, and altered pigmentation. A pseudogene of this gene is located on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for a targeted null mutation are obese and exhibit abnormal hormone levels, abnormal pigmentation, increased food intake, and adiposity. Mice homozygous for another knock-out allele exhibit altered reward based behavior and immune response toLPS treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,841 (GRCm39) Q271R probably benign Het
Abhd4 T A 14: 54,500,164 (GRCm39) W63R probably damaging Het
Adcy5 A G 16: 35,120,018 (GRCm39) M1176V probably null Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Brox G A 1: 183,065,750 (GRCm39) P206L possibly damaging Het
Ccn3 A G 15: 54,611,171 (GRCm39) D102G possibly damaging Het
Def6 A G 17: 28,444,943 (GRCm39) K447R probably benign Het
Dna2 T C 10: 62,799,773 (GRCm39) S726P probably damaging Het
Ell G A 8: 71,031,879 (GRCm39) V15I probably damaging Het
Entrep2 T A 7: 64,409,075 (GRCm39) T440S probably benign Het
Epha3 T A 16: 63,593,698 (GRCm39) D130V probably benign Het
Gys1 A G 7: 45,089,008 (GRCm39) T200A possibly damaging Het
Habp4 A T 13: 64,309,939 (GRCm39) H47L probably benign Het
Iqcn G T 8: 71,161,511 (GRCm39) V235L possibly damaging Het
Kcnj10 C A 1: 172,196,563 (GRCm39) R26S probably benign Het
Klhl1 T A 14: 96,755,632 (GRCm39) D41V probably benign Het
Lyn A G 4: 3,782,996 (GRCm39) T410A probably damaging Het
Mga A G 2: 119,754,031 (GRCm39) T847A probably damaging Het
Mrgpra3 G T 7: 47,239,290 (GRCm39) T212N probably benign Het
Myh4 T C 11: 67,137,251 (GRCm39) F491L probably benign Het
Neurl4 T A 11: 69,801,562 (GRCm39) I1206N probably damaging Het
Pcdhb15 T A 18: 37,608,621 (GRCm39) W618R possibly damaging Het
Ppm1l C A 3: 69,460,399 (GRCm39) H325Q probably benign Het
Psme4 A G 11: 30,722,474 (GRCm39) probably benign Het
Reep2 A G 18: 34,978,342 (GRCm39) I74V probably null Het
Robo2 T G 16: 73,745,225 (GRCm39) E850A probably damaging Het
Scrn2 T A 11: 96,921,262 (GRCm39) probably benign Het
Sfpq G A 4: 126,923,675 (GRCm39) R673K probably benign Het
Sh2d3c T C 2: 32,644,581 (GRCm39) *703R probably null Het
Spp1 A G 5: 104,587,167 (GRCm39) M85V probably benign Het
Srebf1 T C 11: 60,097,810 (GRCm39) E98G probably damaging Het
Srrm4 T A 5: 116,582,851 (GRCm39) probably benign Het
Ticam1 A T 17: 56,578,154 (GRCm39) S314T possibly damaging Het
Tie1 T C 4: 118,341,823 (GRCm39) I209V possibly damaging Het
Vapa G A 17: 65,889,586 (GRCm39) R194* probably null Het
Vcan C T 13: 89,838,360 (GRCm39) D2395N probably damaging Het
Whamm A G 7: 81,241,574 (GRCm39) H295R probably benign Het
Zdhhc14 A G 17: 5,698,186 (GRCm39) Y85C probably damaging Het
Zfp35 T A 18: 24,136,583 (GRCm39) F309Y probably damaging Het
Zfp423 C A 8: 88,414,694 (GRCm39) C1187F probably damaging Het
Zfp874b T C 13: 67,622,392 (GRCm39) Y302C probably damaging Het
Other mutations in Pomc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2201:Pomc UTSW 12 4,010,275 (GRCm39) missense probably benign 0.00
R8946:Pomc UTSW 12 4,010,298 (GRCm39) missense probably benign
R9564:Pomc UTSW 12 4,009,971 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGATGAACAGCCCCTGACTG -3'
(R):5'- GGTCATGAAGCCACCGTAAC -3'

Sequencing Primer
(F):5'- TGAAAACCCCCGGAAGTACGTC -3'
(R):5'- TGAAGCCACCGTAACGCTTG -3'
Posted On 2019-05-13