Incidental Mutation 'IGL03391:Psca'
ID 421059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psca
Ensembl Gene ENSMUSG00000022598
Gene Name prostate stem cell antigen
Synonyms 2210408B04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03391
Quality Score
Status
Chromosome 15
Chromosomal Location 74586688-74588914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74586717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 5 (F5S)
Ref Sequence ENSEMBL: ENSMUSP00000023265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023265]
AlphaFold P57096
Predicted Effect probably benign
Transcript: ENSMUST00000023265
AA Change: F5S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000023265
Gene: ENSMUSG00000022598
AA Change: F5S

DomainStartEndE-ValueType
LU 21 107 7.4e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000056711
SMART Domains Protein: ENSMUSP00000060582
Gene: ENSMUSG00000044276

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188070
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous null mice are viable and fertile and show no significant differences in spontaneous or radiation-induced primary epithelial tumor formation relative to wild-type littermates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,107 (GRCm39) D586G probably damaging Het
Acadvl A C 11: 69,901,542 (GRCm39) M557R probably damaging Het
Ano2 T A 6: 125,784,802 (GRCm39) N327K probably damaging Het
Cdh11 A T 8: 103,400,655 (GRCm39) D104E possibly damaging Het
Chrnb2 A G 3: 89,668,184 (GRCm39) F377S probably damaging Het
Cngb1 T C 8: 96,030,333 (GRCm39) probably benign Het
Dnaaf1 C T 8: 120,309,355 (GRCm39) R148C probably damaging Het
Esrrg A T 1: 187,882,420 (GRCm39) I226F possibly damaging Het
Evl C A 12: 108,642,358 (GRCm39) probably null Het
Gpam T C 19: 55,070,128 (GRCm39) E376G probably damaging Het
Gzf1 C A 2: 148,525,603 (GRCm39) R25S probably damaging Het
Ighv5-2 A T 12: 113,542,138 (GRCm39) Y113* probably null Het
Izumo4 A G 10: 80,540,947 (GRCm39) T216A probably damaging Het
Lrp1b T G 2: 41,185,653 (GRCm39) Y1354S possibly damaging Het
Mark1 A G 1: 184,651,632 (GRCm39) probably benign Het
Mylpf A G 7: 126,812,349 (GRCm39) I17V probably benign Het
Myo18b C A 5: 113,022,345 (GRCm39) probably benign Het
Nbas C T 12: 13,533,750 (GRCm39) A1795V probably benign Het
Oprm1 A C 10: 6,964,077 (GRCm39) probably benign Het
Or2ag15 A T 7: 106,340,962 (GRCm39) Y60N probably damaging Het
Or5b122 A G 19: 13,563,483 (GRCm39) M272V probably benign Het
Or5w1 A G 2: 87,487,032 (GRCm39) S78P possibly damaging Het
Parp14 T C 16: 35,678,640 (GRCm39) M443V probably benign Het
Ptbp2 A T 3: 119,514,031 (GRCm39) Y514* probably null Het
Scg3 A G 9: 75,568,533 (GRCm39) probably null Het
Scn2a T C 2: 65,594,557 (GRCm39) V1802A probably damaging Het
Serpinb3a A G 1: 106,974,072 (GRCm39) S280P possibly damaging Het
Slc39a14 T C 14: 70,547,291 (GRCm39) I352V probably damaging Het
Slc6a2 G T 8: 93,688,080 (GRCm39) V69L probably damaging Het
Slc8a1 A G 17: 81,740,067 (GRCm39) probably benign Het
Tjp1 T C 7: 64,964,717 (GRCm39) D818G probably damaging Het
Tnfaip8 T C 18: 50,223,552 (GRCm39) V120A probably damaging Het
Trmt5 G A 12: 73,328,226 (GRCm39) H326Y probably benign Het
Vmn1r222 T C 13: 23,416,632 (GRCm39) M194V possibly damaging Het
Zbtb17 A G 4: 141,194,069 (GRCm39) E699G probably damaging Het
Other mutations in Psca
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5257:Psca UTSW 15 74,588,240 (GRCm39) missense probably damaging 0.97
R5258:Psca UTSW 15 74,588,240 (GRCm39) missense probably damaging 0.97
R5680:Psca UTSW 15 74,587,948 (GRCm39) missense probably benign 0.00
R8843:Psca UTSW 15 74,587,868 (GRCm39) critical splice acceptor site probably null
R9193:Psca UTSW 15 74,587,932 (GRCm39) nonsense probably null
Posted On 2016-08-02