Incidental Mutation 'IGL03142:Pspn'
ID 410732
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 # IGL03142
Quality Score
Status
Chromosome 17
Chromosomal Location 57306457-57307018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57306566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 121 (R121Q)
Ref Sequence ENSEMBL: ENSMUSP00000002740 (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
AA Change: R121Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000002740
Gene: ENSMUSG00000002664
AA Change: R121Q

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging Het
Other mutations in Pspn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Pspn APN 17 57,306,629 (GRCm39) missense probably benign 0.00
IGL02986:Pspn APN 17 57,306,853 (GRCm39) unclassified probably benign
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