Incidental Mutation 'R2181:Penk'
ID 237175
Institutional Source Beutler Lab
Gene Symbol Penk
Ensembl Gene ENSMUSG00000045573
Gene Name preproenkephalin
Synonyms Penk1, PPA, ENK, Penk
MMRRC Submission 040183-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2181 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 4133536-4138815 bp(-) (GRCm39)
Type of Mutation splice site (71 bp from exon)
DNA Base Change (assembly) T to C at 4134041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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: D202G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000066822
Gene: ENSMUSG00000045573
AA Change: D202G

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 null
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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik C T 16: 3,724,950 (GRCm39) S43N possibly damaging Het
Abcb5 T G 12: 118,831,681 (GRCm39) I1224L possibly damaging Het
Adgra2 G A 8: 27,611,701 (GRCm39) G1002S probably damaging Het
Arhgap28 T C 17: 68,203,112 (GRCm39) T114A probably damaging Het
Colec12 T A 18: 9,846,828 (GRCm39) S75T probably damaging Het
Cyp2c67 A G 19: 39,597,541 (GRCm39) C486R possibly damaging Het
Ecm2 T A 13: 49,683,765 (GRCm39) L581Q probably damaging Het
Faxc T A 4: 21,931,591 (GRCm39) S10T probably benign Het
Frem2 A G 3: 53,482,008 (GRCm39) I1893T possibly damaging Het
Gabrr3 T A 16: 59,268,372 (GRCm39) D328E probably damaging Het
Gbp7 A G 3: 142,249,791 (GRCm39) I421V possibly damaging Het
Gorasp1 A G 9: 119,757,422 (GRCm39) S317P probably damaging Het
Htr6 A G 4: 138,801,736 (GRCm39) S113P probably damaging Het
Ift74 A G 4: 94,520,951 (GRCm39) E168G probably damaging Het
Kdm6b A T 11: 69,291,952 (GRCm39) Y1443* probably null Het
Mmp28 A C 11: 83,333,543 (GRCm39) V466G possibly damaging Het
Nbea A T 3: 55,937,360 (GRCm39) S750R possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Nelfa T C 5: 34,057,853 (GRCm39) N314D probably benign Het
Numbl T A 7: 26,968,346 (GRCm39) probably null Het
Or13c25 T A 4: 52,911,524 (GRCm39) K90M probably damaging Het
Or1j17 G A 2: 36,578,346 (GRCm39) D111N probably damaging Het
Or2p2 G T 13: 21,257,394 (GRCm39) P26T probably damaging Het
Or52e5 T C 7: 104,719,418 (GRCm39) V248A possibly damaging Het
Or5b113 G T 19: 13,342,438 (GRCm39) V149F probably benign Het
Pglyrp2 A G 17: 32,637,936 (GRCm39) S31P probably damaging Het
Pigg T C 5: 108,484,366 (GRCm39) S538P probably damaging Het
Pld2 A G 11: 70,433,815 (GRCm39) T252A possibly damaging Het
Ppp2r5e T C 12: 75,509,098 (GRCm39) I394V probably benign Het
Sh3rf1 G T 8: 61,816,272 (GRCm39) V510F probably damaging Het
Slc4a2 A G 5: 24,640,651 (GRCm39) H677R possibly damaging Het
Stam2 A T 2: 52,593,156 (GRCm39) H345Q probably benign Het
Tmtc3 T C 10: 100,284,835 (GRCm39) N600S probably benign Het
Trappc8 A G 18: 20,952,279 (GRCm39) probably null Het
Vmn1r72 A T 7: 11,403,595 (GRCm39) C284* probably null Het
Vmn2r76 T C 7: 85,874,743 (GRCm39) I745V probably benign Het
Zfhx4 A C 3: 5,468,392 (GRCm39) D2850A probably damaging Het
Zfp764 A G 7: 127,005,671 (GRCm39) W36R probably damaging Het
Zfp804b G A 5: 6,821,674 (GRCm39) T463I probably damaging Het
Zfp811 T G 17: 33,016,695 (GRCm39) K448N probably damaging 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
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
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'- GGCTTCAGAACCGCATAAAG -3'
(R):5'- AGGTATGGCGGCTTCATGAAG -3'

Sequencing Primer
(F):5'- GCATAAAGCCCCCGTATCTTTTC -3'
(R):5'- TTCATGAAGAAGGATGCAGATGAG -3'
Posted On 2014-10-02