Incidental Mutation 'IGL02986:Pspn'
ID 406746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pspn
Ensembl Gene ENSMUSG00000002664
Gene Name persephin
Synonyms PSP
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02986
Quality Score
Status
Chromosome 17
Chromosomal Location 57306457-57307018 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 57306853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000073775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002733] [ENSMUST00000002735] [ENSMUST00000002737] [ENSMUST00000002740] [ENSMUST00000074141]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002733
SMART Domains Protein: ENSMUSP00000002733
Gene: ENSMUSG00000002658

DomainStartEndE-ValueType
Pfam:TFIIF_alpha 2 508 2.6e-200 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000002735
SMART Domains Protein: ENSMUSP00000002735
Gene: ENSMUSG00000002660

DomainStartEndE-ValueType
Pfam:CLP_protease 63 244 8.8e-82 PFAM
low complexity region 259 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002737
SMART Domains Protein: ENSMUSP00000002737
Gene: ENSMUSG00000002661

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 64 203 8.2e-14 PFAM
low complexity region 206 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002740
SMART Domains Protein: ENSMUSP00000002740
Gene: ENSMUSG00000002664

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TGFB 66 155 1.24e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074141
SMART Domains Protein: ENSMUSP00000073775
Gene: ENSMUSG00000002661

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 63 145 3.8e-12 PFAM
low complexity region 148 161 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149632
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Mice lacking a functional copy of this gene exhibit hypersensitivity to cerebral ischemia. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are developmentally and behaviorally normal but show increased susceptibility to focal cerebral ischemia and stroke following middle cerebral artery occlusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,263,311 (GRCm39) V264A possibly damaging Het
Akr1c6 G T 13: 4,486,414 (GRCm39) V74L probably benign Het
Atp10a T G 7: 58,478,469 (GRCm39) V1504G probably benign Het
Ccng1 A G 11: 40,641,690 (GRCm39) probably benign Het
Celsr3 A T 9: 108,718,454 (GRCm39) probably null Het
Coro1b T C 19: 4,199,470 (GRCm39) V43A possibly damaging Het
Dab1 A G 4: 104,336,418 (GRCm39) T5A probably benign Het
Dennd5a C T 7: 109,534,731 (GRCm39) A47T probably benign Het
Dgkb A G 12: 38,150,399 (GRCm39) T69A possibly damaging Het
Dhx37 G A 5: 125,496,379 (GRCm39) P721L probably damaging Het
Efr3b T C 12: 4,016,495 (GRCm39) N641D probably benign Het
Espnl A T 1: 91,272,572 (GRCm39) Q600L probably benign Het
Esyt1 A G 10: 128,352,626 (GRCm39) V693A probably damaging Het
Fscn2 A G 11: 120,258,176 (GRCm39) D366G possibly damaging Het
Gcsam C A 16: 45,440,366 (GRCm39) F136L probably benign Het
Gm10643 A T 8: 84,790,887 (GRCm39) probably benign Het
Habp2 A T 19: 56,299,624 (GRCm39) D174V probably benign Het
Hgfac T C 5: 35,201,207 (GRCm39) V210A probably benign Het
Hipk3 T C 2: 104,264,086 (GRCm39) D804G probably damaging Het
L3mbtl1 T C 2: 162,812,225 (GRCm39) W757R probably damaging Het
Lrrfip2 A G 9: 110,990,461 (GRCm39) probably null Het
Ly75 T C 2: 60,138,535 (GRCm39) D1444G probably damaging Het
Mars1 A G 10: 127,133,438 (GRCm39) V765A probably benign Het
Med1 A G 11: 98,047,086 (GRCm39) probably benign Het
Msln G A 17: 25,971,907 (GRCm39) probably benign Het
Nup188 T A 2: 30,197,645 (GRCm39) probably null Het
Or1p1c T G 11: 74,160,928 (GRCm39) F238V possibly damaging Het
Or7e173 A T 9: 19,939,007 (GRCm39) F76I probably benign Het
Otop2 T A 11: 115,220,393 (GRCm39) M411K probably benign Het
Picalm A G 7: 89,856,793 (GRCm39) I649M probably benign Het
Plekha8 T C 6: 54,606,851 (GRCm39) L382P probably damaging Het
Rnf215 A G 11: 4,089,793 (GRCm39) T269A probably damaging Het
Rps6kc1 A T 1: 190,566,258 (GRCm39) L329Q probably damaging Het
Srms T A 2: 180,854,290 (GRCm39) R92S possibly damaging Het
Ssxb10 C A X: 8,201,845 (GRCm39) S157* probably null Het
Tfap2c T C 2: 172,399,171 (GRCm39) S448P probably damaging Het
Thsd7b A G 1: 129,843,352 (GRCm39) N855D probably benign Het
Timeless A C 10: 128,085,629 (GRCm39) D887A possibly damaging Het
Tyms T C 5: 30,266,997 (GRCm39) Y169C probably damaging Het
Unc45b T A 11: 82,808,005 (GRCm39) C207S probably damaging Het
Utp20 A G 10: 88,611,147 (GRCm39) F1390S probably damaging Het
Vmn2r53 A T 7: 12,315,393 (GRCm39) probably benign Het
Zfp369 A T 13: 65,428,095 (GRCm39) D18V probably damaging Het
Other mutations in Pspn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Pspn APN 17 57,306,629 (GRCm39) missense probably benign 0.00
IGL03142:Pspn APN 17 57,306,566 (GRCm39) missense probably benign 0.00
R0513:Pspn UTSW 17 57,306,720 (GRCm39) missense probably damaging 1.00
R6145:Pspn UTSW 17 57,306,467 (GRCm39) missense probably damaging 1.00
R6772:Pspn UTSW 17 57,306,515 (GRCm39) missense probably benign
R7028:Pspn UTSW 17 57,306,978 (GRCm39) missense possibly damaging 0.96
Posted On 2016-08-02