Incidental Mutation 'R2317:Pnmt'
ID 245536
Institutional Source Beutler Lab
Gene Symbol Pnmt
Ensembl Gene ENSMUSG00000038216
Gene Name phenylethanolamine-N-methyltransferase
Synonyms Pent
MMRRC Submission 040312-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2317 (G1)
Quality Score 187
Status Not validated
Chromosome 11
Chromosomal Location 98277449-98279006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98277677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 74 (Q74K)
Ref Sequence ENSEMBL: ENSMUSP00000035549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008021] [ENSMUST00000041301] [ENSMUST00000090827] [ENSMUST00000128897]
AlphaFold P40935
Predicted Effect probably benign
Transcript: ENSMUST00000008021
SMART Domains Protein: ENSMUSP00000008021
Gene: ENSMUSG00000007877

DomainStartEndE-ValueType
Pfam:Telethonin 3 167 7.7e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000041218
Predicted Effect probably benign
Transcript: ENSMUST00000041301
AA Change: Q74K

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035549
Gene: ENSMUSG00000038216
AA Change: Q74K

DomainStartEndE-ValueType
Pfam:NNMT_PNMT_TEMT 25 290 1.2e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090827
SMART Domains Protein: ENSMUSP00000088337
Gene: ENSMUSG00000038208

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Per1 54 306 6.3e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128058
Predicted Effect probably benign
Transcript: ENSMUST00000128897
SMART Domains Protein: ENSMUSP00000119668
Gene: ENSMUSG00000038208

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Per1 51 96 6.2e-14 PFAM
Pfam:Per1 93 256 7.3e-59 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous null mice lack adrenal epinephrine and have increased adrenal norepinephrine levels but are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc102a T C 8: 95,634,957 (GRCm39) D327G probably null Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cfap126 A G 1: 170,953,700 (GRCm39) D134G possibly damaging Het
Cript T C 17: 87,335,139 (GRCm39) L19P probably benign Het
Cwf19l1 A C 19: 44,120,597 (GRCm39) L39V possibly damaging Het
Eif2b4 T C 5: 31,348,920 (GRCm39) probably null Het
Esp16 A G 17: 39,850,738 (GRCm39) N39S probably benign Het
Fbxo30 A G 10: 11,166,078 (GRCm39) N267D probably damaging Het
Gabra6 T C 11: 42,208,607 (GRCm39) probably null Het
Gp1ba A G 11: 70,531,473 (GRCm39) probably benign Het
Klf12 C T 14: 100,179,503 (GRCm39) R279Q probably benign Het
Lats1 C T 10: 7,567,540 (GRCm39) Q104* probably null Het
Myrfl A G 10: 116,675,289 (GRCm39) Y215H possibly damaging Het
Ncoa1 A G 12: 4,325,189 (GRCm39) I963T probably damaging Het
Neurod6 A G 6: 55,655,906 (GRCm39) Y244H probably damaging Het
Nodal T C 10: 61,254,212 (GRCm39) M45T possibly damaging Het
Nuggc A G 14: 65,861,591 (GRCm39) E479G possibly damaging Het
Pdcd6ip T C 9: 113,501,842 (GRCm39) D467G probably benign Het
Slc25a36 G A 9: 96,961,235 (GRCm39) T267I probably damaging Het
Slc35e3 A G 10: 117,580,804 (GRCm39) S167P probably damaging Het
Sprr2f C A 3: 92,273,390 (GRCm39) P63H unknown Het
Stt3a T C 9: 36,659,371 (GRCm39) I323V probably benign Het
Tedc2 A G 17: 24,435,358 (GRCm39) S344P probably benign Het
Unc13b A G 4: 43,245,514 (GRCm39) D3722G probably damaging Het
Zfp35 T C 18: 24,136,555 (GRCm39) Y300H probably damaging Het
Zfp959 A G 17: 56,204,326 (GRCm39) D121G possibly damaging Het
Other mutations in Pnmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
H8441:Pnmt UTSW 11 98,278,513 (GRCm39) missense probably benign 0.40
R1103:Pnmt UTSW 11 98,278,502 (GRCm39) missense probably benign 0.19
R1420:Pnmt UTSW 11 98,278,502 (GRCm39) missense probably benign 0.19
R4919:Pnmt UTSW 11 98,277,477 (GRCm39) missense probably benign 0.01
R4924:Pnmt UTSW 11 98,278,286 (GRCm39) missense probably damaging 1.00
R6038:Pnmt UTSW 11 98,278,594 (GRCm39) missense probably damaging 1.00
R6038:Pnmt UTSW 11 98,278,594 (GRCm39) missense probably damaging 1.00
R8885:Pnmt UTSW 11 98,278,580 (GRCm39) missense probably benign 0.05
R9008:Pnmt UTSW 11 98,278,832 (GRCm39) missense possibly damaging 0.50
R9650:Pnmt UTSW 11 98,278,262 (GRCm39) missense probably damaging 1.00
V1024:Pnmt UTSW 11 98,278,513 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- AGACCTGAAGCACGCTACAG -3'
(R):5'- ATCTTAAACATCCTCCCCTTGAAAG -3'

Sequencing Primer
(F):5'- TACAGGGAGTGGCTCAGACC -3'
(R):5'- GACTCTAAACTGTCTAGTCAGTCATC -3'
Posted On 2014-10-30