Incidental Mutation 'R9771:Prss56'
ID 733423
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 # R9771 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 87183313-87188405 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87185643 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 231 (I231T)
Ref Sequence ENSEMBL: ENSMUSP00000138773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044533] [ENSMUST00000073252]
AlphaFold F2YMG0
Predicted Effect possibly damaging
Transcript: ENSMUST00000044533
AA Change: I231T

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480
AA Change: I231T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,650,988 I55T possibly damaging Het
Aldh1l1 A G 6: 90,598,328 T866A probably benign Het
Alg12 A T 15: 88,816,170 V21E probably damaging Het
Bod1l C A 5: 41,791,863 R2972L probably damaging Het
Card6 T A 15: 5,100,211 I568F probably benign Het
Ccdc89 A G 7: 90,426,602 T7A probably benign Het
Cep112 A G 11: 108,682,691 probably benign Het
Dnmbp T C 19: 43,866,592 I297M probably damaging Het
Dpysl2 T C 14: 66,829,384 E200G probably damaging Het
Etl4 T C 2: 20,806,726 S1575P probably benign Het
Gm18596 A C 10: 77,742,128 S171A unknown Het
Gmip T A 8: 69,814,068 C278S probably benign Het
Gngt2 G T 11: 95,837,298 probably benign Het
Gnptab G A 10: 88,432,623 D531N probably damaging Het
Iqgap3 C A 3: 88,108,869 F986L probably damaging Het
Kcnh7 A G 2: 62,739,375 C726R probably damaging Het
Map4k4 T C 1: 39,986,717 I289T unknown Het
Ndufb10 T C 17: 24,724,184 probably null Het
Ngef G A 1: 87,503,288 P269L probably damaging Het
Nol11 C A 11: 107,179,088 W312L probably damaging Het
Olfr266 A T 3: 106,821,744 Y272N possibly damaging Het
Olfr406 G A 11: 74,269,809 R140H probably benign Het
Osbpl10 G A 9: 115,067,288 R30Q probably benign Het
Osbpl6 T C 2: 76,593,427 L878P possibly damaging Het
Pde6h T G 6: 136,959,361 F34C probably damaging Het
Pkhd1l1 A G 15: 44,495,487 H364R probably benign Het
Ptcd3 G A 6: 71,895,919 R263* probably null Het
Ptprq T A 10: 107,685,224 I696F probably damaging Het
Sdk1 A T 5: 142,096,869 I1341F probably damaging Het
Sema3d A G 5: 12,563,240 Y428C probably damaging Het
Sh3tc1 A C 5: 35,716,310 F217C probably damaging Het
Sptb G A 12: 76,603,579 T1788I probably damaging Het
Stard13 G A 5: 151,059,583 P672L probably damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,301,649 probably benign Het
Tada3 A C 6: 113,372,358 S244A probably benign Het
Tnc T A 4: 64,007,363 I979F probably damaging Het
Twistnb A G 12: 33,437,829 T248A probably benign Het
Usp10 CAA CAAA 8: 119,931,881 probably null Het
Vmn1r177 T C 7: 23,866,232 N73S probably damaging Het
Vmn2r1 A G 3: 64,090,138 E405G possibly damaging Het
Vmn2r2 T C 3: 64,134,658 H212R possibly damaging Het
Wdfy3 A G 5: 101,852,329 L3015P probably damaging Het
Wdr11 T C 7: 129,605,127 S255P probably damaging Het
Ypel3 T C 7: 126,780,054 Y100H 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
R7898:Prss56 UTSW 1 87184199 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
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'- TCAGAGCTGGGAATAGCATCC -3'
(R):5'- GCCCGTCTACAGGAAAGAATG -3'

Sequencing Primer
(F):5'- GGAATAGCATCCCAAACCCTCTTC -3'
(R):5'- CCCGTCTACAGGAAAGAATGTAAGG -3'
Posted On 2022-11-14