Incidental Mutation 'R2201:Pomc'
ID 238678
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 040203-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R2201 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4004951-4010642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4010275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 172 (L172S)
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 benign
Transcript: ENSMUST00000020990
AA Change: L172S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020990
Gene: ENSMUSG00000020660
AA Change: L172S

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 benign
Transcript: ENSMUST00000218089
AA Change: L172S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000218166
Predicted Effect probably benign
Transcript: ENSMUST00000218169
Predicted Effect probably benign
Transcript: ENSMUST00000219543
AA Change: L172S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000220006
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,524,268 (GRCm39) N1121K probably null Het
Actr10 A G 12: 71,006,795 (GRCm39) N351D probably damaging Het
Adcy7 G A 8: 89,044,606 (GRCm39) A500T probably damaging Het
Ankrd35 T C 3: 96,586,564 (GRCm39) I80T possibly damaging Het
Arap2 G A 5: 62,864,028 (GRCm39) T532I probably damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cc2d2a T C 5: 43,841,375 (GRCm39) probably benign Het
Cep85l A T 10: 53,224,827 (GRCm39) M254K probably benign Het
Clic4 A G 4: 134,950,850 (GRCm39) S114P probably damaging Het
Ctsj T C 13: 61,150,363 (GRCm39) Y213C probably damaging Het
Ddx28 A G 8: 106,737,206 (GRCm39) V284A probably damaging Het
Dnase2b T A 3: 146,290,443 (GRCm39) D176V probably damaging Het
Dsg2 T A 18: 20,729,111 (GRCm39) N663K probably damaging Het
Dst T A 1: 34,235,002 (GRCm39) S3694T possibly damaging Het
Emilin1 T C 5: 31,073,036 (GRCm39) S158P probably benign Het
Eng T C 2: 32,563,752 (GRCm39) probably benign Het
Entrep2 T A 7: 64,409,141 (GRCm39) M418L probably benign Het
Fdxr C A 11: 115,161,208 (GRCm39) V223L probably benign Het
Fhip1b T C 7: 105,037,398 (GRCm39) N395S probably damaging Het
Frem2 T A 3: 53,423,994 (GRCm39) M3148L probably benign Het
Hip1 A T 5: 135,460,584 (GRCm39) D114E probably benign Het
Itga9 T C 9: 118,706,183 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,437,179 (GRCm39) N487K probably damaging Het
Krt6a A G 15: 101,601,606 (GRCm39) F172L probably benign Het
Megf8 C T 7: 25,040,170 (GRCm39) R1034W probably damaging Het
Muc6 C T 7: 141,236,075 (GRCm39) D451N probably damaging Het
Myo5a A G 9: 75,125,225 (GRCm39) T1838A possibly damaging Het
N4bp2l2 A T 5: 150,585,073 (GRCm39) D302E probably damaging Het
Nbeal2 T A 9: 110,459,318 (GRCm39) I1930F probably benign Het
Nhsl3 A G 4: 129,116,432 (GRCm39) V732A probably benign Het
Npas4 A T 19: 5,037,392 (GRCm39) Y301N probably benign Het
Nt5m A G 11: 59,766,741 (GRCm39) K211E probably benign Het
Pfn4 A G 12: 4,824,382 (GRCm39) probably null Het
Pfpl A C 19: 12,407,843 (GRCm39) D698A probably benign Het
Pias1 G T 9: 62,859,137 (GRCm39) H124N possibly damaging Het
Pja2 A T 17: 64,618,162 (GRCm39) probably benign Het
Polr3e T C 7: 120,531,465 (GRCm39) Y185H probably benign Het
Rapgef4 A G 2: 71,875,533 (GRCm39) T129A probably damaging Het
Reep1 T C 6: 71,750,278 (GRCm39) S97P probably damaging Het
Rttn T A 18: 89,029,067 (GRCm39) I595N possibly damaging Het
Sap30 T C 8: 57,938,506 (GRCm39) probably null Het
Slc1a7 T C 4: 107,850,203 (GRCm39) Y105H probably damaging Het
Slc5a5 C T 8: 71,345,102 (GRCm39) M68I probably damaging Het
Stab2 T A 10: 86,776,503 (GRCm39) Y791F probably benign Het
Tdrd1 C A 19: 56,847,094 (GRCm39) H912N probably benign Het
Tdrd1 C A 19: 56,847,093 (GRCm39) S911R probably benign Het
Tgm7 A T 2: 120,929,062 (GRCm39) F278Y probably damaging Het
Tln2 T C 9: 67,283,039 (GRCm39) T310A probably damaging Het
Tmem256 T C 11: 69,730,271 (GRCm39) I93T probably benign Het
Trpm2 G A 10: 77,756,305 (GRCm39) Q1172* probably null Het
Ttll8 A G 15: 88,818,156 (GRCm39) V173A possibly damaging Het
Ubr5 T C 15: 38,002,543 (GRCm39) S1497G possibly damaging Het
Ubr7 G A 12: 102,727,764 (GRCm39) probably null Het
Vmn1r37 T A 6: 66,708,878 (GRCm39) M1K probably null Het
Vmn2r14 A G 5: 109,366,698 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,444 (GRCm39) I707V probably benign Het
Vps8 A G 16: 21,395,507 (GRCm39) R1266G probably damaging Het
Wdr87-ps T A 7: 29,235,950 (GRCm39) noncoding transcript Het
Zfhx4 A G 3: 5,307,349 (GRCm39) N192D probably damaging Het
Zfp638 G C 6: 83,906,500 (GRCm39) D222H probably damaging Het
Zscan29 A C 2: 120,999,883 (GRCm39) V106G probably damaging Het
Other mutations in Pomc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7029:Pomc UTSW 12 4,010,146 (GRCm39) missense probably damaging 1.00
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'- TACGTCATGGGTCACTTCCG -3'
(R):5'- TGGAATGAGAAGACCCCTGC -3'

Sequencing Primer
(F):5'- CCCAGGAACAGCAGCAGTG -3'
(R):5'- ACTGGCCCTTCTTGTGCG -3'
Posted On 2014-10-02