Incidental Mutation 'IGL01296:Prss23'
ID 73136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss23
Ensembl Gene ENSMUSG00000039405
Gene Name protease, serine 23
Synonyms 2310046G15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01296
Quality Score
Status
Chromosome 7
Chromosomal Location 89507783-89527187 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89509887 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 325 (K325E)
Ref Sequence ENSEMBL: ENSMUSP00000147183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041761] [ENSMUST00000207538] [ENSMUST00000207636] [ENSMUST00000207932] [ENSMUST00000208402] [ENSMUST00000208888] [ENSMUST00000208903]
AlphaFold Q9D6X6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032858
Predicted Effect possibly damaging
Transcript: ENSMUST00000041761
AA Change: K325E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045191
Gene: ENSMUSG00000039405
AA Change: K325E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 48 57 N/A INTRINSIC
Tryp_SPc 137 372 2.87e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179361
Predicted Effect probably benign
Transcript: ENSMUST00000207538
Predicted Effect probably benign
Transcript: ENSMUST00000207636
Predicted Effect possibly damaging
Transcript: ENSMUST00000207932
AA Change: K325E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000208402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208814
Predicted Effect probably benign
Transcript: ENSMUST00000208888
Predicted Effect probably benign
Transcript: ENSMUST00000208903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209118
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 conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,841,705 S301P probably damaging Het
Adam34 A G 8: 43,651,141 V489A possibly damaging Het
Adcy8 G A 15: 64,783,779 T617I probably damaging Het
Aggf1 T C 13: 95,353,971 D605G probably damaging Het
Atp10a T A 7: 58,813,625 F969I probably benign Het
Becn1 A T 11: 101,291,451 N97K probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Crtac1 A T 19: 42,284,213 C578S probably damaging Het
Dcp1b A G 6: 119,215,358 K412E probably damaging Het
Dlg2 T A 7: 91,940,059 I327N probably damaging Het
Ehf T A 2: 103,268,155 probably null Het
Elavl4 T C 4: 110,206,612 N264S probably benign Het
Enpp2 A T 15: 54,875,669 I406N probably damaging Het
F10 A T 8: 13,055,383 Y316F possibly damaging Het
Fam20a A G 11: 109,685,351 I194T possibly damaging Het
Fcgbp T C 7: 28,089,647 V546A probably benign Het
Fras1 A T 5: 96,673,698 Q1438L probably null Het
Gm43638 T C 5: 87,460,592 I463V probably benign Het
Gm597 T C 1: 28,777,056 I632V probably benign Het
H2-T10 T C 17: 36,120,710 D84G probably benign Het
Itpr1 T C 6: 108,399,361 F1262L probably damaging Het
Lama1 A G 17: 67,745,051 N335D probably benign Het
Lasp1 T C 11: 97,836,190 V246A probably damaging Het
Lrrk2 A T 15: 91,683,142 I135L probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Mctp2 T C 7: 72,228,526 K268R probably benign Het
Nbea A T 3: 56,031,536 H710Q probably benign Het
Notch3 G A 17: 32,166,757 R13C unknown Het
Ogfod1 A T 8: 94,055,671 probably benign Het
Olfr1465 A G 19: 13,314,126 L53P probably damaging Het
Olfr339 A G 2: 36,421,704 Y102C probably benign Het
Olfr924 T C 9: 38,848,252 I46T probably damaging Het
Pgm3 A G 9: 86,561,879 V324A probably damaging Het
Ppfia2 A T 10: 106,858,207 I681F probably damaging Het
Psmd7 T A 8: 107,586,617 probably benign Het
Rfx2 T A 17: 56,808,317 M1L possibly damaging Het
Rpa1 T C 11: 75,312,315 Y418C probably damaging Het
Rps6kc1 C T 1: 190,773,678 R1029H probably damaging Het
Sept10 A G 10: 59,166,600 V391A probably benign Het
Skint6 A G 4: 113,236,440 F169L probably benign Het
Slc44a4 C T 17: 34,921,698 T289I probably benign Het
Srl T C 16: 4,497,682 D32G probably damaging Het
Stxbp3-ps T A 19: 9,557,892 noncoding transcript Het
Sult1b1 T C 5: 87,514,956 D295G probably benign Het
Tmprss7 A G 16: 45,684,574 V151A probably damaging Het
Trmo A G 4: 46,387,589 L84P probably damaging Het
Vmn2r98 T A 17: 19,065,185 I89N probably damaging Het
Zcwpw1 G A 5: 137,796,799 A86T probably benign Het
Zkscan16 A G 4: 58,956,690 H324R possibly damaging Het
Other mutations in Prss23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03308:Prss23 APN 7 89509730 missense probably benign 0.09
IGL03349:Prss23 APN 7 89509857 missense probably benign 0.09
IGL03378:Prss23 APN 7 89510144 missense probably damaging 0.99
R0394:Prss23 UTSW 7 89509847 missense probably damaging 1.00
R1026:Prss23 UTSW 7 89509958 missense probably benign 0.01
R1417:Prss23 UTSW 7 89510184 missense probably damaging 1.00
R1467:Prss23 UTSW 7 89510009 missense probably damaging 1.00
R1467:Prss23 UTSW 7 89510009 missense probably damaging 1.00
R1691:Prss23 UTSW 7 89510714 missense probably benign 0.18
R1806:Prss23 UTSW 7 89510391 missense probably damaging 1.00
R2153:Prss23 UTSW 7 89509911 missense probably damaging 1.00
R3420:Prss23 UTSW 7 89509899 missense possibly damaging 0.91
R3849:Prss23 UTSW 7 89509751 missense probably damaging 1.00
R4567:Prss23 UTSW 7 89510866 utr 5 prime probably benign
R4828:Prss23 UTSW 7 89509900 nonsense probably null
R5010:Prss23 UTSW 7 89510214 missense probably benign 0.25
R5251:Prss23 UTSW 7 89510322 missense probably damaging 1.00
R5399:Prss23 UTSW 7 89509966 missense probably benign 0.02
R5629:Prss23 UTSW 7 89510192 missense probably damaging 1.00
R5697:Prss23 UTSW 7 89509982 missense probably damaging 0.99
R6378:Prss23 UTSW 7 89510033 missense probably damaging 1.00
R6716:Prss23 UTSW 7 89509847 missense probably damaging 1.00
R6880:Prss23 UTSW 7 89510825 missense probably benign 0.03
R7097:Prss23 UTSW 7 89510184 missense probably damaging 1.00
R7362:Prss23 UTSW 7 89509764 missense probably damaging 1.00
R7563:Prss23 UTSW 7 89509830 missense probably damaging 1.00
R7637:Prss23 UTSW 7 89510246 missense probably benign 0.00
R7815:Prss23 UTSW 7 89510045 missense probably damaging 0.99
R8047:Prss23 UTSW 7 89509928 missense probably damaging 1.00
R8548:Prss23 UTSW 7 89510208 missense probably benign 0.21
R8869:Prss23 UTSW 7 89510679 missense probably benign 0.00
R8914:Prss23 UTSW 7 89510646 missense probably benign
R9310:Prss23 UTSW 7 89509934 missense probably damaging 1.00
R9729:Prss23 UTSW 7 89510723 missense probably benign
R9762:Prss23 UTSW 7 89510475 missense probably damaging 1.00
Posted On 2013-10-07