Incidental Mutation 'IGL02207:Pdyn'
ID 284532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdyn
Ensembl Gene ENSMUSG00000027400
Gene Name prodynorphin
Synonyms Dyn
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02207
Quality Score
Status
Chromosome 2
Chromosomal Location 129528485-129541764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129530438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 77 (L77H)
Ref Sequence ENSEMBL: ENSMUSP00000114534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028883] [ENSMUST00000130608]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028883
AA Change: L77H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028883
Gene: ENSMUSG00000027400
AA Change: L77H

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 damaging
Transcript: ENSMUST00000130608
AA Change: L77H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114534
Gene: ENSMUSG00000027400
AA Change: L77H

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Opiods_neuropep 22 70 1e-21 PFAM
Coding Region Coverage
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,992,993 (GRCm39) E702G probably damaging Het
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Agap3 A T 5: 24,704,934 (GRCm39) T660S probably benign Het
Amotl2 A T 9: 102,601,896 (GRCm39) E380V probably damaging Het
Ap4e1 A G 2: 126,853,736 (GRCm39) E58G probably damaging Het
Arap3 G A 18: 38,120,906 (GRCm39) A713V probably benign Het
B4galt2 T C 4: 117,738,718 (GRCm39) D33G probably damaging Het
Bbs7 A T 3: 36,658,639 (GRCm39) S212T probably benign Het
Ccl26 A G 5: 135,592,224 (GRCm39) Y38H probably benign Het
Ccne2 A T 4: 11,202,261 (GRCm39) S339C probably benign Het
Cd55 A G 1: 130,380,156 (GRCm39) V274A possibly damaging Het
Cenpw T G 10: 30,074,577 (GRCm39) probably null Het
Cert1 T C 13: 96,761,300 (GRCm39) probably null Het
Chrnb4 T C 9: 54,942,500 (GRCm39) D258G probably damaging Het
Commd3 T C 2: 18,678,819 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b23 C A 7: 26,381,180 (GRCm39) R59L probably damaging Het
Edar G T 10: 58,446,343 (GRCm39) T194K probably damaging Het
Edem3 A G 1: 151,684,111 (GRCm39) I733V possibly damaging Het
Elmod2 T C 8: 84,048,135 (GRCm39) Y109C probably benign Het
Eps15 C T 4: 109,161,945 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,412 (GRCm39) V1937A probably benign Het
Fdx2 T A 9: 20,979,415 (GRCm39) probably null Het
Flg2 A T 3: 93,127,435 (GRCm39) I2116F unknown Het
Gm15091 A G X: 148,760,462 (GRCm39) D424G possibly damaging Het
Gm16380 T A 9: 53,791,823 (GRCm39) noncoding transcript Het
Gpn2 G A 4: 133,311,947 (GRCm39) V60M possibly damaging Het
Grip1 G A 10: 119,911,214 (GRCm39) R1044K probably damaging Het
H2-D1 T A 17: 35,482,390 (GRCm39) S37T possibly damaging Het
Havcr1 C T 11: 46,669,403 (GRCm39) A294V probably benign Het
Herc4 G A 10: 63,135,023 (GRCm39) probably null Het
Ift140 A G 17: 25,274,572 (GRCm39) Y748C probably benign Het
Il20ra A G 10: 19,627,326 (GRCm39) T242A probably damaging Het
Ilvbl G A 10: 78,419,536 (GRCm39) probably null Het
Kif18a A T 2: 109,127,052 (GRCm39) I329L probably damaging Het
Kmt2a T A 9: 44,758,979 (GRCm39) I957F probably damaging Het
Krt1 A G 15: 101,757,051 (GRCm39) I282T possibly damaging Het
Lamb1 T G 12: 31,379,434 (GRCm39) V1768G probably damaging Het
Nek9 A T 12: 85,350,257 (GRCm39) L939* probably null Het
Nfe2l2 A G 2: 75,508,869 (GRCm39) L122P probably damaging Het
Nin T C 12: 70,103,431 (GRCm39) M270V probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Nrde2 T C 12: 100,097,190 (GRCm39) Y870C probably benign Het
Nsmce2 A G 15: 59,287,927 (GRCm39) M71V probably benign Het
Ocstamp T C 2: 165,239,583 (GRCm39) H201R possibly damaging Het
Oog4 T C 4: 143,165,510 (GRCm39) I212M probably benign Het
Or11g2 G A 14: 50,856,015 (GRCm39) G112D probably damaging Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Osmr T C 15: 6,876,628 (GRCm39) T99A probably benign Het
Pdia4 A T 6: 47,773,741 (GRCm39) M536K probably benign Het
Pikfyve T C 1: 65,290,837 (GRCm39) probably null Het
Plcb1 A G 2: 135,229,091 (GRCm39) E1105G probably damaging Het
Rb1 A T 14: 73,443,525 (GRCm39) D743E probably damaging Het
Rdh14 G A 12: 10,444,712 (GRCm39) V188I possibly damaging Het
Scd3 T C 19: 44,204,028 (GRCm39) V72A possibly damaging Het
Shld1 A T 2: 132,533,866 (GRCm39) probably benign Het
Slc25a27 G A 17: 43,972,575 (GRCm39) R104W probably damaging Het
Slc29a4 A G 5: 142,704,640 (GRCm39) D394G possibly damaging Het
Slco1a8 A T 6: 141,936,158 (GRCm39) I309N possibly damaging Het
Snx29 T G 16: 11,556,216 (GRCm39) M407R probably damaging Het
Syf2 A G 4: 134,662,363 (GRCm39) probably null Het
Syn1 T C X: 20,731,376 (GRCm39) Q321R probably benign Het
Tbc1d12 A T 19: 38,905,091 (GRCm39) D602V probably damaging Het
Tenm4 A T 7: 96,523,323 (GRCm39) I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 (GRCm39) probably benign Het
Trav6-2 G A 14: 52,904,889 (GRCm39) V8M possibly damaging Het
Unc119b A G 5: 115,272,813 (GRCm39) S53P probably benign Het
Vmp1 T A 11: 86,498,019 (GRCm39) I299F possibly damaging Het
Xpot T C 10: 121,449,485 (GRCm39) Y194C probably damaging Het
Zbtb10 T A 3: 9,345,525 (GRCm39) probably null Het
Other mutations in Pdyn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6171:Pdyn UTSW 2 129,530,268 (GRCm39) missense possibly damaging 0.93
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
Posted On 2015-04-16