Incidental Mutation 'R9650:Pnmt'
ID 727049
Institutional Source Beutler Lab
Gene Symbol Pnmt
Ensembl Gene ENSMUSG00000038216
Gene Name phenylethanolamine-N-methyltransferase
Synonyms Pent
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9650 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98277449-98279006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98278262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 112 (D112V)
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 probably damaging
Transcript: ENSMUST00000041301
AA Change: D112V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035549
Gene: ENSMUSG00000038216
AA Change: D112V

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 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,071,446 (GRCm39) N1469Y probably benign Het
Actl10 T A 2: 154,394,682 (GRCm39) N211K probably benign Het
Adam33 C T 2: 130,894,989 (GRCm39) V690M possibly damaging Het
Agap2 G A 10: 126,927,653 (GRCm39) R1178H unknown Het
Ank2 T A 3: 126,735,829 (GRCm39) T3352S unknown Het
BC005537 T A 13: 24,986,122 (GRCm39) D7E unknown Het
Bptf T C 11: 106,935,412 (GRCm39) M142V probably benign Het
Cox15 A G 19: 43,735,318 (GRCm39) Y150H probably benign Het
Cpq A T 15: 33,497,405 (GRCm39) I382F possibly damaging Het
Cps1 T C 1: 67,254,636 (GRCm39) F1275S Het
Cs T A 10: 128,196,856 (GRCm39) M417K probably benign Het
Cyp2b19 G A 7: 26,466,208 (GRCm39) R337Q possibly damaging Het
Dmgdh A T 13: 93,845,333 (GRCm39) Y442F probably benign Het
Dync2h1 A T 9: 7,174,849 (GRCm39) D131E possibly damaging Het
Epb41l2 A G 10: 25,369,495 (GRCm39) I605V probably benign Het
Evc G A 5: 37,458,162 (GRCm39) P963L probably damaging Het
Evl C A 12: 108,641,698 (GRCm39) T160N probably benign Het
Fam76a T C 4: 132,629,387 (GRCm39) Y255C probably damaging Het
Fras1 G T 5: 96,910,387 (GRCm39) R3272L probably damaging Het
Fry T C 5: 150,369,375 (GRCm39) V2283A probably damaging Het
Fzd6 A G 15: 38,894,941 (GRCm39) Y369C probably damaging Het
Hip1r T C 5: 124,135,357 (GRCm39) probably null Het
Hps5 A G 7: 46,425,354 (GRCm39) S449P probably damaging Het
Ighv1-34 G T 12: 114,814,885 (GRCm39) D92E possibly damaging Het
Iigp1c T G 18: 60,379,470 (GRCm39) V335G probably damaging Het
Ino80 C T 2: 119,277,464 (GRCm39) R337Q probably damaging Het
Itgax T C 7: 127,734,935 (GRCm39) I422T probably benign Het
Itk A T 11: 46,222,778 (GRCm39) Y564N probably damaging Het
Kcnh5 A C 12: 75,023,293 (GRCm39) S592A probably benign Het
Klhl40 T A 9: 121,609,083 (GRCm39) V416E possibly damaging Het
Lhfpl4 T C 6: 113,171,147 (GRCm39) E13G probably benign Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Muc16 A T 9: 18,553,762 (GRCm39) M4177K unknown Het
Ngef T A 1: 87,415,552 (GRCm39) T371S possibly damaging Het
Nutm2 A T 13: 50,623,755 (GRCm39) T151S probably benign Het
Or4c109 A T 2: 88,818,006 (GRCm39) L180* probably null Het
Or51f2 T C 7: 102,526,987 (GRCm39) I220T probably damaging Het
Pate13 A C 9: 35,820,799 (GRCm39) M84L probably benign Het
Pcdhga8 T A 18: 37,860,519 (GRCm39) I525K probably benign Het
Pcx C T 19: 4,657,714 (GRCm39) R394C probably damaging Het
Rnf115 C T 3: 96,665,337 (GRCm39) T69I probably damaging Het
Rrp7a A T 15: 83,004,091 (GRCm39) probably null Het
Senp1 A T 15: 97,946,248 (GRCm39) M499K probably damaging Het
Serpina3f G A 12: 104,186,519 (GRCm39) A362T possibly damaging Het
Slc29a3 T A 10: 60,586,302 (GRCm39) I55F possibly damaging Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Tln1 G A 4: 43,545,912 (GRCm39) T901I probably damaging Het
Tmem102 T C 11: 69,695,869 (GRCm39) K64R probably benign Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tnxb G A 17: 34,930,629 (GRCm39) V2105I probably damaging Het
Traf2 A C 2: 25,410,454 (GRCm39) C391W probably damaging Het
Tubgcp3 A G 8: 12,705,974 (GRCm39) S183P probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Usp2 C A 9: 44,000,476 (GRCm39) N288K probably damaging Het
Utrn T C 10: 12,613,929 (GRCm39) T381A probably benign Het
Vil1 C T 1: 74,464,775 (GRCm39) P474L probably benign Het
Wasf2 T A 4: 132,917,457 (GRCm39) N185K unknown Het
Zfp865 A G 7: 5,037,683 (GRCm39) M45V unknown 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
R2317:Pnmt UTSW 11 98,277,677 (GRCm39) missense probably benign 0.26
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
V1024:Pnmt UTSW 11 98,278,513 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- ATACTACCCTGAAGAAGTGCTG -3'
(R):5'- TGCCAGGACTCACTGTACAG -3'

Sequencing Primer
(F):5'- CTACCCTGAAGAAGTGCTGAGGAG -3'
(R):5'- CTGACTATACACACTCCAGTC -3'
Posted On 2022-10-06