Incidental Mutation 'R1331:Penk'
ID 156180
Institutional Source Beutler Lab
Gene Symbol Penk
Ensembl Gene ENSMUSG00000045573
Gene Name preproenkephalin
Synonyms Penk1, PPA, ENK, Penk
MMRRC Submission 039396-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1331 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 4133536-4138815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4134287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 120 (M120T)
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: M120T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066822
Gene: ENSMUSG00000045573
AA Change: M120T

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
AA Change: M120T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000122389
Gene: ENSMUSG00000045573
AA Change: M120T

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
Meta Mutation Damage Score 0.0957 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 93.0%
Validation Efficiency 100% (59/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,773,202 (GRCm39) probably null Het
Acat1 T C 9: 53,496,183 (GRCm39) D318G probably benign Het
Ahdc1 T C 4: 132,791,002 (GRCm39) F748L probably benign Het
Alkbh8 T A 9: 3,347,916 (GRCm39) probably null Het
Arhgef26 A G 3: 62,247,449 (GRCm39) T178A probably benign Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Ccdc180 T C 4: 45,909,359 (GRCm39) V509A possibly damaging Het
Ccdc39 T C 3: 33,869,634 (GRCm39) E731G probably benign Het
Cenpf A G 1: 189,374,998 (GRCm39) V2931A probably damaging Het
Cobl A T 11: 12,325,853 (GRCm39) N207K probably damaging Het
Col14a1 T A 15: 55,273,584 (GRCm39) W718R unknown Het
Dnah7a A G 1: 53,507,828 (GRCm39) I3081T probably damaging Het
Dync1h1 T C 12: 110,615,698 (GRCm39) V2977A probably damaging Het
Ephb4 A G 5: 137,364,796 (GRCm39) probably benign Het
Eri3 T C 4: 117,422,104 (GRCm39) probably benign Het
Fbxo24 A G 5: 137,617,891 (GRCm39) V291A probably damaging Het
Glra1 A C 11: 55,405,896 (GRCm39) S282A probably benign Het
Gm7589 C A 9: 59,053,325 (GRCm39) noncoding transcript Het
H6pd T C 4: 150,066,872 (GRCm39) N505D probably benign Het
Hdlbp T A 1: 93,348,853 (GRCm39) N566Y probably damaging Het
Hsp90aa1 C A 12: 110,659,254 (GRCm39) K514N probably damaging Het
Impdh1 A T 6: 29,206,477 (GRCm39) V120D probably damaging Het
Katnip A G 7: 125,465,627 (GRCm39) T1360A probably benign Het
Loxhd1 C T 18: 77,490,632 (GRCm39) P1411S possibly damaging Het
Lpl A G 8: 69,349,281 (GRCm39) E269G probably damaging Het
Map1a G T 2: 121,136,701 (GRCm39) E2268* probably null Het
Mark1 T C 1: 184,660,245 (GRCm39) E137G probably damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Mogat2 T C 7: 98,872,722 (GRCm39) Y154C possibly damaging Het
Myo18a C G 11: 77,732,405 (GRCm39) I859M probably benign Het
Myo7a A G 7: 97,756,215 (GRCm39) V39A probably benign Het
Nedd4 T A 9: 72,584,668 (GRCm39) I123N probably damaging Het
Obscn A G 11: 58,977,754 (GRCm39) V1966A probably benign Het
Or7g33 T C 9: 19,448,842 (GRCm39) N128S probably benign Het
Orc3 T G 4: 34,599,748 (GRCm39) N77T probably benign Het
Phf7 G A 14: 30,962,362 (GRCm39) Q148* probably null Het
Pkhd1l1 G A 15: 44,368,943 (GRCm39) V863I probably damaging Het
Pkhd1l1 C T 15: 44,452,993 (GRCm39) R3973C probably damaging Het
Polq C T 16: 36,862,109 (GRCm39) T264M probably damaging Het
Ptprb A T 10: 116,203,437 (GRCm39) T2070S probably damaging Het
Ralgapb T C 2: 158,272,453 (GRCm39) F169S probably damaging Het
Rapgef5 G T 12: 117,685,084 (GRCm39) A278S probably benign Het
Ripor2 G T 13: 24,861,824 (GRCm39) E203* probably null Het
Setx T C 2: 29,069,698 (GRCm39) L2501P probably benign Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slc35b1 T A 11: 95,276,689 (GRCm39) V56D probably damaging Het
Slc45a4 C T 15: 73,458,596 (GRCm39) D326N probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stat4 T A 1: 52,053,086 (GRCm39) V89D probably benign Het
Tek T A 4: 94,627,943 (GRCm39) probably benign Het
Tert T A 13: 73,796,473 (GRCm39) F1068Y probably damaging Het
Trim33 T A 3: 103,217,670 (GRCm39) I205K probably damaging Het
Vmn1r212 A T 13: 23,067,562 (GRCm39) I257K probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGGAAAAGGGCTTCAGAACCGC -3'
(R):5'- TTCAAAATCTGGGAGACCTGCAAGG -3'

Sequencing Primer
(F):5'- CTTCTTCATCGGAGGGCAGAG -3'
(R):5'- AGACCTGCAAGGATCTCCTG -3'
Posted On 2014-02-11