Incidental Mutation 'R7553:Prss56'
ID 584525
Institutional Source Beutler Lab
Gene Symbol Prss56
Ensembl Gene ENSMUSG00000036480
Gene Name serine protease 56
Synonyms Prss56, 1700027L20Rik
MMRRC Submission 045622-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7553 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87111035-87116127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87111261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 16 (D16G)
Ref Sequence ENSEMBL: ENSMUSP00000138773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044533]
AlphaFold F2YMG0
Predicted Effect probably benign
Transcript: ENSMUST00000044533
AA Change: D16G

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480
AA Change: D16G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,648,545 (GRCm39) L649P probably damaging Het
Acad10 T C 5: 121,777,318 (GRCm39) Y371C probably damaging Het
Avp A G 2: 130,423,098 (GRCm39) V71A probably damaging Het
Bhmt C T 13: 93,756,589 (GRCm39) probably null Het
Capn15 T C 17: 26,179,738 (GRCm39) E874G probably damaging Het
Capn5 A G 7: 97,773,231 (GRCm39) F591S probably damaging Het
Ccne2 A T 4: 11,201,348 (GRCm39) Q292L probably benign Het
Cd96 T G 16: 45,872,384 (GRCm39) T406P probably damaging Het
Csnk1e G A 15: 79,310,566 (GRCm39) A153V probably damaging Het
Dlk1 G A 12: 109,420,889 (GRCm39) V15I unknown Het
Dmbt1 A G 7: 130,706,597 (GRCm39) N1372S unknown Het
Dntt A T 19: 41,017,926 (GRCm39) R17W probably damaging Het
Erich3 G T 3: 154,439,137 (GRCm39) A260S probably benign Het
Foxp2 C T 6: 15,437,881 (GRCm39) S669L unknown Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Grid2 A G 6: 64,053,925 (GRCm39) K375E possibly damaging Het
Grin2b C T 6: 135,749,394 (GRCm39) G603S possibly damaging Het
Hexb C T 13: 97,334,681 (GRCm39) R30Q probably benign Het
Homer3 A T 8: 70,742,774 (GRCm39) T162S probably benign Het
L3mbtl1 A G 2: 162,790,151 (GRCm39) E15G probably benign Het
Manea A T 4: 26,327,986 (GRCm39) F352I probably damaging Het
Mcf2l T A 8: 13,047,268 (GRCm39) M210K probably benign Het
Morc3 T C 16: 93,667,824 (GRCm39) L734P probably damaging Het
Mybpc2 A G 7: 44,155,571 (GRCm39) V894A possibly damaging Het
Myh4 T A 11: 67,147,221 (GRCm39) M1622K probably damaging Het
Myrf A G 19: 10,206,240 (GRCm39) F59L probably benign Het
Ndst3 G T 3: 123,350,709 (GRCm39) probably null Het
Nln TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC 13: 104,186,924 (GRCm39) probably null Het
Nos3 A T 5: 24,586,715 (GRCm39) D986V possibly damaging Het
Nrp1 G A 8: 129,158,468 (GRCm39) A252T probably damaging Het
Nup205 G T 6: 35,178,934 (GRCm39) R668L probably damaging Het
Or51aa2 T C 7: 103,188,363 (GRCm39) Y26C probably damaging Het
Or5af2 T A 11: 58,707,886 (GRCm39) D17E probably benign Het
Or5p56 G A 7: 107,589,682 (GRCm39) V37I probably benign Het
Pcdhga1 T A 18: 37,882,735 (GRCm39) probably null Het
Pck1 A G 2: 172,998,860 (GRCm39) I373V probably benign Het
Pde8b T C 13: 95,223,258 (GRCm39) N227S probably benign Het
Pianp T G 6: 124,976,214 (GRCm39) S8A unknown Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2r1 A T 2: 60,353,243 (GRCm39) N239K possibly damaging Het
Pls1 T A 9: 95,669,140 (GRCm39) N27I probably damaging Het
Prep T C 10: 45,034,620 (GRCm39) *711Q probably null Het
Prkag3 A G 1: 74,783,894 (GRCm39) F330L probably damaging Het
Rad17 A T 13: 100,769,794 (GRCm39) F255Y probably damaging Het
Rap1gap2 T C 11: 74,326,548 (GRCm39) E173G probably damaging Het
Retreg3 C T 11: 100,997,216 (GRCm39) R88H possibly damaging Het
Rhag G A 17: 41,139,286 (GRCm39) G74R probably damaging Het
Rybp A G 6: 100,209,220 (GRCm39) S201P possibly damaging Het
S100a10 G A 3: 93,471,602 (GRCm39) C62Y probably benign Het
Scgb2b3 T A 7: 31,059,673 (GRCm39) S34C possibly damaging Het
Serpind1 A G 16: 17,154,539 (GRCm39) D122G probably benign Het
Setdb1 A G 3: 95,254,076 (GRCm39) L242P probably damaging Het
Slc14a2 T A 18: 78,198,803 (GRCm39) I776F probably damaging Het
Slc9a1 A G 4: 133,139,580 (GRCm39) E266G probably damaging Het
Stard9 A T 2: 120,524,289 (GRCm39) probably null Het
Stpg2 A G 3: 138,924,098 (GRCm39) Y167C probably damaging Het
Tex264 T C 9: 106,536,335 (GRCm39) E274G probably damaging Het
Tigd2 G A 6: 59,188,564 (GRCm39) S477N probably benign Het
Urb1 A G 16: 90,589,752 (GRCm39) L343P probably damaging Het
Vars2 A T 17: 35,975,680 (GRCm39) C246S possibly damaging Het
Vil1 G A 1: 74,465,891 (GRCm39) probably null Het
Vmn2r61 C G 7: 41,916,205 (GRCm39) L273V not run Het
Vmn2r-ps158 T G 7: 42,697,447 (GRCm39) C835G probably damaging Het
Zfp37 C A 4: 62,110,236 (GRCm39) G317V probably damaging Het
Zfp760 A G 17: 21,941,872 (GRCm39) K349R possibly damaging Het
Zyx A T 6: 42,327,408 (GRCm39) E69V probably null Het
Other mutations in Prss56
AlleleSourceChrCoordTypePredicted EffectPPH Score
B5639:Prss56 UTSW 1 87,114,892 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TATAGCTCCAGGGCATCGTTTC -3'
(R):5'- ATATCCCAGTTCCAGGCTCC -3'

Sequencing Primer
(F):5'- AGGGCATCGTTTCCCTGAG -3'
(R):5'- AGGCTCCTCCTTCCAGCAG -3'
Posted On 2019-10-17