Incidental Mutation 'IGL00911:Penk'
ID 27221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Penk
Ensembl Gene ENSMUSG00000045573
Gene Name preproenkephalin
Synonyms Penk1, PPA, ENK, Penk
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00911
Quality Score
Status
Chromosome 4
Chromosomal Location 4133536-4138815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4134347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 100 (Y100C)
Ref Sequence ENSEMBL: ENSMUSP00000122389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070375] [ENSMUST00000133567]
AlphaFold P22005
Predicted Effect probably damaging
Transcript: ENSMUST00000070375
AA Change: Y100C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066822
Gene: ENSMUSG00000045573
AA Change: Y100C

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 damaging
Transcript: ENSMUST00000133567
AA Change: Y100C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122389
Gene: ENSMUSG00000045573
AA Change: Y100C

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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm T C 5: 90,673,450 (GRCm39) V234A probably benign Het
Alas1 T A 9: 106,113,671 (GRCm39) I525F probably benign Het
Ambra1 T A 2: 91,598,027 (GRCm39) probably benign Het
Apbb2 G A 5: 66,608,855 (GRCm39) T264M probably damaging Het
Arb2a T A 13: 78,100,094 (GRCm39) probably benign Het
Arhgap40 A G 2: 158,376,636 (GRCm39) probably benign Het
Chd9 C T 8: 91,778,320 (GRCm39) P2793L probably damaging Het
Clstn1 T G 4: 149,727,648 (GRCm39) probably benign Het
Cyp2f2 T C 7: 26,821,354 (GRCm39) V13A probably damaging Het
Dnah1 C T 14: 31,026,391 (GRCm39) probably null Het
Eogt A T 6: 97,096,961 (GRCm39) V349E probably damaging Het
Epb41 T C 4: 131,717,095 (GRCm39) D353G possibly damaging Het
Fbxo38 T A 18: 62,663,871 (GRCm39) I207F possibly damaging Het
Frem2 T C 3: 53,479,883 (GRCm39) S1937G probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kcnh3 G T 15: 99,130,882 (GRCm39) G500* probably null Het
Khdc1b A T 1: 21,454,578 (GRCm39) K94* probably null Het
Lpcat2 T C 8: 93,617,338 (GRCm39) Y367H probably damaging Het
Lrrd1 A C 5: 3,915,689 (GRCm39) N762T probably benign Het
Mbl2 T A 19: 30,215,794 (GRCm39) D100E possibly damaging Het
Mthfr T G 4: 148,125,759 (GRCm39) S31A probably benign Het
Nrp1 T A 8: 129,202,688 (GRCm39) S558T probably benign Het
Nrxn3 T C 12: 90,171,366 (GRCm39) L1254P probably damaging Het
Or2ag12 A T 7: 106,277,040 (GRCm39) Y218N probably damaging Het
Pabpc1l C A 2: 163,884,343 (GRCm39) T360K probably damaging Het
Pcgf1 G A 6: 83,057,606 (GRCm39) G92S probably damaging Het
Pik3r1 T C 13: 101,894,169 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,187,971 (GRCm39) T3446S probably benign Het
Plcg2 G A 8: 118,313,254 (GRCm39) D473N probably benign Het
Poll G T 19: 45,542,040 (GRCm39) T422K probably damaging Het
Skint3 T A 4: 112,113,106 (GRCm39) probably benign Het
Stab2 C A 10: 86,805,617 (GRCm39) C243F probably damaging Het
Supt6 T C 11: 78,122,007 (GRCm39) E215G possibly damaging Het
Tas1r2 C A 4: 139,387,602 (GRCm39) P354T probably benign Het
Tenm2 G A 11: 35,899,560 (GRCm39) Q2533* probably null Het
Tmem121 C T 12: 113,151,851 (GRCm39) A23V probably damaging Het
Other mutations in Penk
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0712:Penk UTSW 4 4,134,257 (GRCm39) missense probably benign 0.35
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
Posted On 2013-04-17