Incidental Mutation 'IGL02634: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 #IGL02634
Quality Score
Chromosomal Location4133531-4138819 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4134065 bp
Amino Acid Change Leucine to Proline at position 194 (L194P)
Ref Sequence ENSEMBL: ENSMUSP00000066822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070375] [ENSMUST00000133567]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070375
AA Change: L194P

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066822
Gene: ENSMUSG00000045573
AA Change: L194P

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810046K07Rik A G 9: 51,291,755 L33P possibly damaging Het
Adamts2 T A 11: 50,792,721 C943* probably null Het
Arhgef28 A T 13: 98,051,058 V243D probably benign Het
Arrdc3 T A 13: 80,890,765 I62K probably damaging Het
Atm T C 9: 53,516,563 T416A probably benign Het
AW209491 A G 13: 14,637,683 T374A probably damaging Het
Brcc3 T C X: 75,436,098 probably benign Het
Ccdc181 T G 1: 164,279,945 S66A probably benign Het
Ccdc62 T C 5: 123,954,257 I435T probably benign Het
Cdc14b C A 13: 64,216,303 probably benign Het
Chst5 A G 8: 111,890,845 S48P probably damaging Het
Ciita C A 16: 10,508,713 S253Y probably damaging Het
Dock7 C T 4: 98,989,296 R1005H probably damaging Het
Dsg4 A T 18: 20,458,580 I459F probably benign Het
Enpep T C 3: 129,309,857 E361G probably damaging Het
Fblim1 T C 4: 141,583,111 D280G probably benign Het
Fignl1 G A 11: 11,802,756 R100* probably null Het
Ggcx G T 6: 72,418,303 A126S probably damaging Het
Hdgfl1 A G 13: 26,769,803 S96P probably benign Het
Iqgap2 G A 13: 95,628,114 L1541F probably damaging Het
Itga8 T C 2: 12,140,478 E888G possibly damaging Het
Kank4 T A 4: 98,778,827 Q461L probably benign Het
Klhl20 C T 1: 161,098,365 V438M probably damaging Het
Klrc3 A T 6: 129,643,208 S27R probably damaging Het
Ksr2 T C 5: 117,763,329 probably benign Het
Lrrc37a C T 11: 103,499,112 S1829N probably benign Het
Obscn A G 11: 59,054,785 L4585P probably damaging Het
Olfr480 T C 7: 108,066,771 N9S probably benign Het
Palm3 T G 8: 84,028,865 S335R probably damaging Het
Pcsk7 C T 9: 45,919,262 A446V possibly damaging Het
Pkhd1l1 T C 15: 44,539,667 F2255S probably damaging Het
Plcd3 G A 11: 103,077,827 S31F probably damaging Het
Ppp6r2 C T 15: 89,275,477 Q456* probably null Het
Rbbp8nl T C 2: 180,280,895 D235G probably benign Het
Ror1 T A 4: 100,426,110 N457K probably benign Het
Rpgrip1l C A 8: 91,225,344 probably benign Het
Sdk1 T C 5: 141,610,032 F148L probably benign Het
Slc45a2 A T 15: 11,023,354 H348L probably benign Het
Smg8 C T 11: 87,086,672 A28T probably benign Het
Snx14 A G 9: 88,403,303 I436T probably damaging Het
Synj2 G A 17: 6,029,760 R1088H probably damaging Het
Tubb6 T C 18: 67,402,296 Y422H probably damaging Het
Unc13a T A 8: 71,655,701 I503F probably benign Het
Unc13d A G 11: 116,070,556 probably benign Het
Zp1 T C 19: 10,919,507 probably benign 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
IGL02935:Penk APN 4 4133843 missense probably damaging 0.99
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 On2015-04-16