Incidental Mutation 'R7898:Prss56'
ID 609790
Institutional Source Beutler Lab
Gene Symbol Prss56
Ensembl Gene ENSMUSG00000036480
Gene Name protease, serine 56
Synonyms Prss56, 1700027L20Rik
MMRRC Submission
Accession Numbers

Genbank: XM_487606
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7898 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87183313-87188405 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87184199 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 51 (S51G)
Ref Sequence ENSEMBL: ENSMUSP00000138773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044533]
AlphaFold F2YMG0
Predicted Effect probably benign
Transcript: ENSMUST00000044533
AA Change: S51G

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480
AA Change: S51G

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: 99.0%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007K13Rik TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,466,110 probably benign Het
4931409K22Rik T C 5: 24,553,645 E117G probably damaging Het
Acaca T C 11: 84,364,449 probably null Het
Ankef1 C A 2: 136,553,698 N649K probably benign Het
Arl5b T A 2: 15,075,058 S147T probably damaging Het
Arnt2 A T 7: 84,268,947 probably null Het
Ash1l A G 3: 88,983,625 E937G possibly damaging Het
Asxl1 T G 2: 153,399,934 S802R possibly damaging Het
B230118H07Rik T A 2: 101,586,402 K67N probably benign Het
BC017158 C A 7: 128,298,005 A27S probably benign Het
Cacna1h T A 17: 25,392,276 H516L probably damaging Het
Cad A G 5: 31,061,485 Y550C probably damaging Het
Cdo1 A G 18: 46,728,090 I18T probably benign Het
Chd2 A G 7: 73,519,475 probably null Het
Dbf4 A G 5: 8,408,232 probably null Het
Dcdc2a A T 13: 25,102,378 R132W possibly damaging Het
Dnah10 T C 5: 124,782,361 S2131P probably damaging Het
Eef2k A G 7: 120,895,218 Y599C probably damaging Het
Eno2 C T 6: 124,767,262 probably null Het
Fam124b T A 1: 80,213,795 probably benign Het
Fezf2 A G 14: 12,342,701 I388T possibly damaging Het
Gbp11 T C 5: 105,324,932 N542S probably benign Het
Gdpd1 T A 11: 87,041,813 I229F probably damaging Het
Gm5065 G A 7: 5,359,442 R24H probably benign Het
Gria1 T A 11: 57,242,765 V490E probably damaging Het
Grm8 G A 6: 27,762,423 R268C probably damaging Het
Hectd4 T A 5: 121,331,817 S2592T probably benign Het
Herpud1 C T 8: 94,392,200 T194I probably benign Het
Hspa1b T C 17: 34,958,191 T273A probably benign Het
Ighm T A 12: 113,421,253 K327* probably null Het
Igkv3-4 A T 6: 70,672,313 I99F probably damaging Het
Isl2 C A 9: 55,542,439 S97R probably benign Het
Klhl12 A T 1: 134,458,481 I4F probably benign Het
Lrp2 T C 2: 69,441,366 E4074G probably benign Het
Mcm3ap A G 10: 76,506,607 N1645D probably damaging Het
Mettl23 T C 11: 116,845,853 probably benign Het
Mettl24 A G 10: 40,810,482 E285G probably benign Het
Mis18bp1 A G 12: 65,149,472 L506P probably benign Het
Mup18 G T 4: 61,672,688 probably null Het
Myom1 T C 17: 71,045,752 L357P probably benign Het
Nkx2-9 G A 12: 56,612,246 A61V probably benign Het
Olfr669 C T 7: 104,939,366 A280V probably damaging Het
Pbx1 A T 1: 168,185,047 M340K probably benign Het
Pcdhb17 A T 18: 37,485,180 N8Y probably benign Het
Pex13 C A 11: 23,650,929 probably null Het
Plxnb1 A G 9: 109,114,340 R1884G probably damaging Het
Polq T A 16: 37,044,883 V699E probably damaging Het
Ppl C T 16: 5,088,861 R1190H probably damaging Het
Prr14l A T 5: 32,829,966 H728Q probably benign Het
Prss12 T C 3: 123,506,496 V752A possibly damaging Het
Pwp2 G A 10: 78,173,406 R854W probably damaging Het
Rhobtb2 C T 14: 69,796,297 C493Y probably damaging Het
Rictor C T 15: 6,772,154 S441L probably benign Het
Scap A G 9: 110,384,743 N1258S possibly damaging Het
Sec31a C T 5: 100,399,477 G218R probably damaging Het
Siglec15 A T 18: 78,043,699 M315K probably benign Het
Slc17a6 G A 7: 51,658,825 probably null Het
Smchd1 T C 17: 71,377,818 probably null Het
Spag4 A T 2: 156,069,324 D393V probably damaging Het
Spata5 T G 3: 37,420,471 M44R probably benign Het
Sulf1 A G 1: 12,805,294 N176S probably damaging Het
Tmem9 T A 1: 136,027,387 probably null Het
Tnpo3 T C 6: 29,565,224 I577V probably benign Het
Tti1 A C 2: 157,993,470 I956S probably benign Het
Wdr66 A T 5: 123,322,454 I1160F probably damaging Het
Wdr81 T C 11: 75,453,899 R181G probably benign Het
Zfp462 T A 4: 55,012,995 C1654S probably damaging Het
Zfp74 A T 7: 29,935,955 C109* probably null Het
Znrf4 A G 17: 56,511,681 C209R probably damaging Het
Zzef1 T G 11: 72,796,547 L84R probably damaging Het
Other mutations in Prss56
AlleleSourceChrCoordTypePredicted EffectPPH Score
B5639:Prss56 UTSW 1 87187170 missense probably benign
R0390:Prss56 UTSW 1 87184730 splice site probably null
R4544:Prss56 UTSW 1 87184642 missense probably damaging 0.99
R4723:Prss56 UTSW 1 87185337 missense possibly damaging 0.54
R4749:Prss56 UTSW 1 87185583 missense possibly damaging 0.88
R4898:Prss56 UTSW 1 87187986 missense probably damaging 0.99
R5095:Prss56 UTSW 1 87188111 missense probably damaging 1.00
R5176:Prss56 UTSW 1 87184158 missense probably damaging 1.00
R5205:Prss56 UTSW 1 87185534 missense probably damaging 1.00
R6029:Prss56 UTSW 1 87187557 nonsense probably null
R6223:Prss56 UTSW 1 87185412 missense probably benign 0.02
R7018:Prss56 UTSW 1 87185948 missense possibly damaging 0.54
R7143:Prss56 UTSW 1 87188153 missense probably benign
R7237:Prss56 UTSW 1 87184915 missense probably damaging 0.99
R7284:Prss56 UTSW 1 87185401 missense probably null 0.06
R7553:Prss56 UTSW 1 87183539 missense probably benign 0.17
R8951:Prss56 UTSW 1 87188027 missense probably damaging 0.97
R9733:Prss56 UTSW 1 87183497 missense possibly damaging 0.93
R9771:Prss56 UTSW 1 87185643 missense possibly damaging 0.88
RF024:Prss56 UTSW 1 87187170 missense probably benign
Z1177:Prss56 UTSW 1 87186317 missense probably damaging 0.99
Z1177:Prss56 UTSW 1 87187146 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCCAATTGTAGCACCATCTG -3'
(R):5'- AATCTGACCCCAAGGACGATG -3'

Sequencing Primer
(F):5'- TCTCTACATCCCTGGTAGTCTAAGAG -3'
(R):5'- GACCCCAAGGACGATGGAACC -3'
Posted On 2019-12-20