Incidental Mutation 'R6171:Pdyn'
ID 490422
Institutional Source Beutler Lab
Gene Symbol Pdyn
Ensembl Gene ENSMUSG00000027400
Gene Name prodynorphin
Synonyms Dyn
MMRRC Submission 044314-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6171 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 129528485-129541764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129530268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 134 (S134T)
Ref Sequence ENSEMBL: ENSMUSP00000028883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028883] [ENSMUST00000130608]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028883
AA Change: S134T

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028883
Gene: ENSMUSG00000027400
AA Change: S134T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Opiods_neuropep 22 68 8.7e-20 PFAM
low complexity region 96 109 N/A INTRINSIC
internal_repeat_1 164 208 1.79e-5 PROSPERO
internal_repeat_1 200 227 1.79e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000130608
SMART Domains Protein: ENSMUSP00000114534
Gene: ENSMUSG00000027400

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Opiods_neuropep 22 70 1e-21 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: This gene encodes a preproprotein that is proteolytically cleaved to yield a number of active opium-like peptides. These peptides are the endogenous ligands for the Kappa-opioid receptor and similar G-protein-coupled receptors and are thought to function as the body's natural way to control addiction. These peptides have been associated with depression, stress, anxiety, response to pain, and maintenance of homeostasis via circadian rhythms and control of appetite. Mutations in the related human gene have been linked to the neurodegenerative disease spinocerebellar ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs A G 4: 126,211,110 (GRCm39) V269A probably damaging Het
Atp11a T A 8: 12,882,663 (GRCm39) V517D probably damaging Het
Atr C T 9: 95,763,324 (GRCm39) Q1073* probably null Het
C87436 A C 6: 86,422,449 (GRCm39) T8P probably benign Het
Clasrp T C 7: 19,318,747 (GRCm39) probably benign Het
Creb3l1 G T 2: 91,821,614 (GRCm39) Q254K probably damaging Het
Dapl1 C A 2: 59,326,946 (GRCm39) T64K probably benign Het
Dnah2 A T 11: 69,313,868 (GRCm39) L4168Q probably damaging Het
Dnttip2 T A 3: 122,072,511 (GRCm39) I597N probably damaging Het
Dyrk1b A T 7: 27,885,975 (GRCm39) probably null Het
Elk3 G T 10: 93,085,906 (GRCm39) P132Q probably damaging Het
Galt C T 4: 41,757,541 (GRCm39) P238S probably damaging Het
Gm10322 T C 10: 59,452,084 (GRCm39) V67A possibly damaging Het
Ice1 T C 13: 70,754,850 (GRCm39) Y412C probably benign Het
Kcna1 A T 6: 126,619,286 (GRCm39) Y345N probably damaging Het
Kif1b T C 4: 149,342,505 (GRCm39) Y419C probably damaging Het
Klf15 G T 6: 90,443,601 (GRCm39) A59S possibly damaging Het
Mettl17 T A 14: 52,126,236 (GRCm39) Y162N probably damaging Het
Myh10 G A 11: 68,682,716 (GRCm39) R1050Q probably damaging Het
Nek4 T C 14: 30,692,304 (GRCm39) V376A probably benign Het
Nemp1 T A 10: 127,525,319 (GRCm39) probably null Het
Nlrp9a T C 7: 26,258,188 (GRCm39) I602T possibly damaging Het
Nphp4 T C 4: 152,628,906 (GRCm39) V764A probably damaging Het
Or12e1 T A 2: 87,022,709 (GRCm39) V226E possibly damaging Het
Or8c17 C T 9: 38,179,898 (GRCm39) Q22* probably null Het
Osbp2 A T 11: 3,667,221 (GRCm39) probably null Het
Pax2 A G 19: 44,779,179 (GRCm39) Y185C probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Ppp1r13l A G 7: 19,111,436 (GRCm39) M754V probably benign Het
Prr23a3 T A 9: 98,747,731 (GRCm39) N228K probably benign Het
Psmd12 T C 11: 107,382,733 (GRCm39) F213L probably damaging Het
Qser1 A T 2: 104,619,628 (GRCm39) S395T probably damaging Het
Rab7b A G 1: 131,626,372 (GRCm39) probably null Het
Rev3l T A 10: 39,738,709 (GRCm39) L2821* probably null Het
Rplp0 A G 5: 115,699,219 (GRCm39) N127S probably benign Het
Serpina9 G T 12: 103,974,678 (GRCm39) Y158* probably null Het
Sis G A 3: 72,868,360 (GRCm39) T110M possibly damaging Het
Slc43a2 A G 11: 75,453,876 (GRCm39) Y263C probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stard13 A T 5: 151,016,227 (GRCm39) V88E probably damaging Het
Trim29 G A 9: 43,230,674 (GRCm39) E286K probably damaging Het
Vmn2r24 T C 6: 123,764,205 (GRCm39) S361P probably damaging Het
Wnk2 T C 13: 49,214,308 (GRCm39) T18A probably damaging Het
Xylb C T 9: 119,210,657 (GRCm39) T380M probably damaging Het
Zbtb5 T C 4: 44,994,119 (GRCm39) T422A probably benign Het
Zhx2 A G 15: 57,686,602 (GRCm39) E657G probably damaging Het
Other mutations in Pdyn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Pdyn APN 2 129,530,438 (GRCm39) missense probably damaging 1.00
R0582:Pdyn UTSW 2 129,531,658 (GRCm39) missense probably damaging 1.00
R1937:Pdyn UTSW 2 129,531,729 (GRCm39) missense probably benign
R4970:Pdyn UTSW 2 129,530,021 (GRCm39) missense probably damaging 1.00
R7641:Pdyn UTSW 2 129,531,748 (GRCm39) missense possibly damaging 0.95
R8197:Pdyn UTSW 2 129,530,277 (GRCm39) missense probably benign 0.00
R8389:Pdyn UTSW 2 129,530,357 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TTGTACAGGTCCTCATGCCC -3'
(R):5'- AGATTTGCTCCCTGGAGTGC -3'

Sequencing Primer
(F):5'- AGGTCCTCATGCCCTACCTG -3'
(R):5'- ACATGCCGGGGCTTCTCATC -3'
Posted On 2017-10-10