Incidental Mutation 'IGL02634:Penk'
ID301420
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
Status
Chromosome4
Chromosomal Location4133531-4138819 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4134065 bp
ZygosityHeterozygous
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

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
SMART Domains Protein: ENSMUSP00000122389
Gene: ENSMUSG00000045573

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: 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