Incidental Mutation 'R0712:Penk'
ID 62780
Institutional Source Beutler Lab
Gene Symbol Penk
Ensembl Gene ENSMUSG00000045573
Gene Name preproenkephalin
Synonyms Penk1, PPA, ENK, Penk
MMRRC Submission 038895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0712 (G1)
Quality Score 133
Status Not validated
Chromosome 4
Chromosomal Location 4133536-4138815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4134257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 130 (E130G)
Ref Sequence ENSEMBL: ENSMUSP00000122389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070375] [ENSMUST00000133567]
AlphaFold P22005
Predicted Effect probably benign
Transcript: ENSMUST00000070375
AA Change: E130G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000066822
Gene: ENSMUSG00000045573
AA Change: E130G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Opiods_neuropep 25 70 1.5e-19 PFAM
internal_repeat_1 90 141 4.19e-10 PROSPERO
internal_repeat_1 201 267 4.19e-10 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131498
Predicted Effect probably benign
Transcript: ENSMUST00000133567
AA Change: E130G

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122389
Gene: ENSMUSG00000045573
AA Change: E130G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Opiods_neuropep 25 72 3.2e-23 PFAM
Blast:CYCc 108 176 1e-16 BLAST
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit nitrituria. Female homozygotes display decreased circulating triglyceride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd1 G A X: 72,774,471 (GRCm39) V489M possibly damaging Het
Anln A T 9: 22,291,594 (GRCm39) V78E probably benign Het
Atp2b4 T C 1: 133,658,216 (GRCm39) K565E probably damaging Het
Cap2 T C 13: 46,768,837 (GRCm39) probably null Het
Cdh22 A G 2: 165,012,576 (GRCm39) Y170H probably damaging Het
Chrna5 A T 9: 54,911,647 (GRCm39) K45I probably damaging Het
Dnaaf4 G T 9: 72,867,939 (GRCm39) G67* probably null Het
Hdac8 T A X: 101,543,524 (GRCm39) M67L probably benign Het
Lama1 A G 17: 68,086,037 (GRCm39) probably null Het
Lrba T A 3: 86,205,297 (GRCm39) Y380* probably null Het
Mastl A G 2: 23,041,005 (GRCm39) Y106H probably damaging Het
Obscn T C 11: 58,940,271 (GRCm39) E5210G possibly damaging Het
Or12d2 T A 17: 37,624,975 (GRCm39) H100L probably damaging Het
Or4d5 A G 9: 40,012,726 (GRCm39) V20A probably benign Het
Pcgf2 T C 11: 97,581,830 (GRCm39) Y21C probably damaging Het
Rnmt G A 18: 68,440,859 (GRCm39) probably null Het
Stk11ip T A 1: 75,504,091 (GRCm39) L277Q probably damaging Het
Synpo2l A G 14: 20,711,907 (GRCm39) S238P probably damaging Het
Tex264 A C 9: 106,536,431 (GRCm39) L242R possibly damaging Het
Ubald2 T C 11: 116,325,401 (GRCm39) F46S probably damaging Het
Zfp692 T C 11: 58,205,140 (GRCm39) V463A probably benign Het
Other mutations in Penk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Penk APN 4 4,134,347 (GRCm39) missense probably damaging 1.00
IGL01901:Penk APN 4 4,134,465 (GRCm39) missense probably benign 0.02
IGL02634:Penk APN 4 4,134,065 (GRCm39) missense possibly damaging 0.92
IGL02935:Penk APN 4 4,133,843 (GRCm39) missense probably damaging 0.99
R1126:Penk UTSW 4 4,138,119 (GRCm39) missense probably benign 0.00
R1331:Penk UTSW 4 4,134,287 (GRCm39) missense probably benign 0.02
R1720:Penk UTSW 4 4,134,240 (GRCm39) missense probably damaging 1.00
R2181:Penk UTSW 4 4,134,041 (GRCm39) splice site probably null
R3154:Penk UTSW 4 4,134,152 (GRCm39) missense probably damaging 0.96
R5184:Penk UTSW 4 4,134,296 (GRCm39) missense probably damaging 1.00
R5779:Penk UTSW 4 4,134,318 (GRCm39) missense probably damaging 1.00
R5939:Penk UTSW 4 4,138,010 (GRCm39) missense probably benign 0.01
R7860:Penk UTSW 4 4,133,976 (GRCm39) missense possibly damaging 0.48
R9367:Penk UTSW 4 4,134,097 (GRCm39) missense probably benign
Z1176:Penk UTSW 4 4,138,106 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGGAAAAGGGCTTCAGAACCGC -3'
(R):5'- CGAGTTCCCTTGGGATAACATCGAC -3'

Sequencing Primer
(F):5'- CTTCTTCATCGGAGGGCAGAG -3'
(R):5'- TTGGGATAACATCGACATGTACAAAG -3'
Posted On 2013-07-30