Incidental Mutation 'IGL02935:Penk'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Penk
Ensembl Gene ENSMUSG00000045573
Gene Namepreproenkephalin
SynonymsENK, Penk, Penk1, PPA
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02935
Quality Score
Chromosomal Location4133531-4138819 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4133843 bp
Amino Acid Change Phenylalanine to Serine at position 268 (F268S)
Ref Sequence ENSEMBL: ENSMUSP00000066822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070375] [ENSMUST00000133567]
Predicted Effect probably damaging
Transcript: ENSMUST00000070375
AA Change: F268S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066822
Gene: ENSMUSG00000045573
AA Change: F268S

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
SMART Domains Protein: ENSMUSP00000122389
Gene: ENSMUSG00000045573

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,561,862 P13L possibly damaging Het
A930016O22Rik A T 7: 19,420,413 probably benign Het
Ajuba A G 14: 54,570,467 F436S probably damaging Het
Bptf C A 11: 107,080,799 A961S probably damaging Het
Brca1 A G 11: 101,489,867 V1780A probably benign Het
Bub1 A G 2: 127,801,295 L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 M433K possibly damaging Het
Col4a1 T C 8: 11,219,166 D928G probably damaging Het
Colq G A 14: 31,535,634 P259S probably damaging Het
Csmd1 T C 8: 16,223,334 Y828C probably damaging Het
Dennd5a T C 7: 109,921,307 R448G possibly damaging Het
Dip2c A G 13: 9,662,146 D1435G probably damaging Het
Dst T A 1: 34,186,845 L1188* probably null Het
Duox1 G T 2: 122,324,519 G462C possibly damaging Het
Flcn A T 11: 59,795,236 I402N possibly damaging Het
Fuca2 G A 10: 13,507,319 E344K probably null Het
Golim4 T C 3: 75,894,992 H331R possibly damaging Het
Grid1 A T 14: 34,822,558 I29F possibly damaging Het
Hltf T A 3: 20,069,051 F201Y probably damaging Het
Ipo8 A T 6: 148,789,841 I677N probably benign Het
Meioc A G 11: 102,672,191 T72A probably benign Het
Meox2 A T 12: 37,109,105 H92L probably damaging Het
Mlec C A 5: 115,157,814 R74L probably benign Het
Mrpl58 G A 11: 115,410,228 probably benign Het
Mtch1 T C 17: 29,336,210 D288G probably benign Het
Myo16 A G 8: 10,532,990 E1090G probably benign Het
Nicn1 A G 9: 108,290,646 N39S probably benign Het
Nlrp9c A G 7: 26,385,276 S293P probably benign Het
Olfr1042 G T 2: 86,160,370 probably benign Het
Olfr1344 G A 7: 6,440,754 V285M possibly damaging Het
Olfr66 T C 7: 103,881,664 N193S probably damaging Het
Pcdh20 T A 14: 88,467,002 probably benign Het
Peg3 C A 7: 6,711,129 V365F probably damaging Het
Pitrm1 T A 13: 6,553,264 Y116N probably damaging Het
Prex1 C A 2: 166,570,345 G389C probably damaging Het
Ptch2 C T 4: 117,114,770 A1163V probably damaging Het
Rasgrp3 G A 17: 75,497,070 V123I probably benign Het
Slc36a2 G T 11: 55,170,028 N185K possibly damaging Het
Sox9 G T 11: 112,785,349 G455C probably damaging Het
St6galnac1 G T 11: 116,769,345 D47E probably benign Het
Taar5 A T 10: 23,971,517 D271V probably damaging Het
Top3a A T 11: 60,762,528 I85K possibly damaging Het
Ttll8 T A 15: 88,914,556 M659L probably benign Het
Ythdc2 C T 18: 44,855,045 R656C probably damaging Het
Other mutations in Penk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Penk APN 4 4134347 missense probably damaging 1.00
IGL01901:Penk APN 4 4134465 missense probably benign 0.02
IGL02634:Penk APN 4 4134065 missense possibly damaging 0.92
R0712:Penk UTSW 4 4134257 missense probably benign 0.35
R1126:Penk UTSW 4 4138119 missense probably benign 0.00
R1331:Penk UTSW 4 4134287 missense probably benign 0.02
R1720:Penk UTSW 4 4134240 missense probably damaging 1.00
R2181:Penk UTSW 4 4134041 unclassified probably null
R3154:Penk UTSW 4 4134152 missense probably damaging 0.96
R5184:Penk UTSW 4 4134296 missense probably damaging 1.00
R5779:Penk UTSW 4 4134318 missense probably damaging 1.00
R5939:Penk UTSW 4 4138010 missense probably benign 0.01
R7860:Penk UTSW 4 4133976 missense possibly damaging 0.48
R7943:Penk UTSW 4 4133976 missense possibly damaging 0.48
Posted On2015-12-18