Incidental Mutation 'B5639:Prss56'
ID 556
Institutional Source Beutler Lab
Gene Symbol Prss56
Ensembl Gene ENSMUSG00000036480
Gene Name serine protease 56
Synonyms Prss56, 1700027L20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # B5639 of strain 3d
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 87111035-87116127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87114892 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Leucine to Proline at position 465 (L465P)
Ref Sequence ENSEMBL: ENSMUSP00000138773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044533] [ENSMUST00000073252] [ENSMUST00000186373]
AlphaFold F2YMG0
Predicted Effect probably benign
Transcript: ENSMUST00000044533
AA Change: L465P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480
AA Change: L465P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:Tryp_SPc 58 103 1e-5 BLAST
Tryp_SPc 108 336 1.17e-84 SMART
Blast:Tryp_SPc 340 385 4e-9 BLAST
low complexity region 386 407 N/A INTRINSIC
low complexity region 410 422 N/A INTRINSIC
Blast:Tryp_SPc 432 499 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000073252
SMART Domains Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:Neur_chan_LBD 28 249 4.4e-70 PFAM
Pfam:Neur_chan_memb 256 492 1.1e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186373
SMART Domains Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 1 140 4.2e-40 PFAM
Pfam:Neur_chan_memb 147 383 6.6e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189970
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 78.3%
Het Detection Efficiency 55.9%
Validation Efficiency 83% (206/248)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for an ENU induced mutation show increased intraocular pressure, variable decreases in eye axial length, and narrow iridocorneal angles. Homozygous mice model angle-closure glaucoma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnmt1 G A 9: 20,819,264 (GRCm39) probably benign Het
Eno1 A G 4: 150,329,569 (GRCm39) probably benign Het
Ercc8 G A 13: 108,297,257 (GRCm39) G56R probably damaging Homo
Fam237b C T 5: 5,624,060 (GRCm39) probably benign Homo
Idh1 A G 1: 65,204,257 (GRCm39) probably null Homo
Incenp G A 19: 9,871,182 (GRCm39) T149I unknown Het
Or5d16 G A 2: 87,773,942 (GRCm39) S10F probably benign Het
Or5k17 A T 16: 58,746,889 (GRCm39) I15K probably benign Homo
Pdk2 T C 11: 94,923,324 (GRCm39) D100G possibly damaging Homo
Slc10a3 G A X: 73,413,145 (GRCm39) P416L probably damaging Homo
Syne2 C A 12: 75,976,564 (GRCm39) T1243K probably benign Het
Vwf T C 6: 125,619,947 (GRCm39) Y1542H probably damaging Homo
Zc3h13 G A 14: 75,553,479 (GRCm39) R302Q probably damaging Het
Zfhx4 G T 3: 5,468,235 (GRCm39) G2798W probably damaging Homo
Zfp667 A G 7: 6,293,544 (GRCm39) T15A probably damaging Het
Other mutations in Prss56
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0390:Prss56 UTSW 1 87,112,452 (GRCm39) splice site probably null
R4544:Prss56 UTSW 1 87,112,364 (GRCm39) missense probably damaging 0.99
R4723:Prss56 UTSW 1 87,113,059 (GRCm39) missense possibly damaging 0.54
R4749:Prss56 UTSW 1 87,113,305 (GRCm39) missense possibly damaging 0.88
R4898:Prss56 UTSW 1 87,115,708 (GRCm39) missense probably damaging 0.99
R5095:Prss56 UTSW 1 87,115,833 (GRCm39) missense probably damaging 1.00
R5176:Prss56 UTSW 1 87,111,880 (GRCm39) missense probably damaging 1.00
R5205:Prss56 UTSW 1 87,113,256 (GRCm39) missense probably damaging 1.00
R6029:Prss56 UTSW 1 87,115,279 (GRCm39) nonsense probably null
R6223:Prss56 UTSW 1 87,113,134 (GRCm39) missense probably benign 0.02
R7018:Prss56 UTSW 1 87,113,670 (GRCm39) missense possibly damaging 0.54
R7143:Prss56 UTSW 1 87,115,875 (GRCm39) missense probably benign
R7237:Prss56 UTSW 1 87,112,637 (GRCm39) missense probably damaging 0.99
R7284:Prss56 UTSW 1 87,113,123 (GRCm39) missense probably null 0.06
R7553:Prss56 UTSW 1 87,111,261 (GRCm39) missense probably benign 0.17
R7898:Prss56 UTSW 1 87,111,921 (GRCm39) missense probably benign 0.17
R8951:Prss56 UTSW 1 87,115,749 (GRCm39) missense probably damaging 0.97
R9733:Prss56 UTSW 1 87,111,219 (GRCm39) missense possibly damaging 0.93
R9771:Prss56 UTSW 1 87,113,365 (GRCm39) missense possibly damaging 0.88
RF024:Prss56 UTSW 1 87,114,892 (GRCm39) missense probably benign
Z1177:Prss56 UTSW 1 87,114,868 (GRCm39) missense probably damaging 1.00
Z1177:Prss56 UTSW 1 87,114,039 (GRCm39) missense probably damaging 0.99
Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to C transition at position 1136 of the 1700027L20Rik transcript.  Two transcripts of the 1700027L20Rik gene are displayed on Ensembl. The mutated nucleotide causes a leucine to proline substitution at amino acid 379 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).
Protein Function and Prediction

The 1700027L20Rik gene encodes a predicted protein of 518 amino acids.  SMART analysis identified a trypsin-like serine protease domain at residues 62-258.

The L379P change is predicted to be benign by the PolyPhen program.
Posted On 2010-11-19