Incidental Mutation 'IGL02625:Prss55'
ID301037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss55
Ensembl Gene ENSMUSG00000034623
Gene Nameprotease, serine 55
Synonyms4933401F05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL02625
Quality Score
Status
Chromosome14
Chromosomal Location64075438-64090162 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 64079369 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 108 (I108K)
Ref Sequence ENSEMBL: ENSMUSP00000128485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089338] [ENSMUST00000171503]
Predicted Effect probably damaging
Transcript: ENSMUST00000089338
AA Change: I108K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086752
Gene: ENSMUSG00000034623
AA Change: I108K

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 34 261 1.55e-80 SMART
low complexity region 277 294 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169113
Predicted Effect probably damaging
Transcript: ENSMUST00000171503
AA Change: I108K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128485
Gene: ENSMUSG00000034623
AA Change: I108K

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 34 225 1.77e-43 SMART
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 member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,746,347 C109S probably damaging Het
Arhgdia C A 11: 120,580,213 E53D probably benign Het
Ccr4 A C 9: 114,492,333 C221W probably damaging Het
Ces2a G A 8: 104,740,278 probably null Het
Chpf2 G T 5: 24,591,711 E552* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnmt1 C T 9: 20,927,146 R207H probably benign Het
Dock2 A G 11: 34,501,168 probably null Het
Esr1 A T 10: 5,001,346 T575S probably benign Het
Fancc A G 13: 63,398,151 C93R probably damaging Het
Foxj3 A T 4: 119,624,917 R523W unknown Het
Fryl C T 5: 73,069,877 probably benign Het
Fsip2 A C 2: 82,949,492 H194P probably benign Het
Gaa G A 11: 119,274,733 V350I probably damaging Het
Gpn3 T A 5: 122,381,194 I152N probably damaging Het
H2-M10.3 T A 17: 36,367,525 H136L probably benign Het
Hist4h4 C T 6: 136,804,337 probably benign Het
Hspg2 A G 4: 137,512,642 D507G probably damaging Het
Jcad A G 18: 4,674,422 E728G probably benign Het
Kat14 G A 2: 144,402,445 R406H possibly damaging Het
Kcnma1 G T 14: 23,363,832 D863E probably damaging Het
Lrp1 A G 10: 127,574,486 Y1464H probably damaging Het
Map4 T C 9: 110,064,417 S584P probably damaging Het
Nlrp4f G A 13: 65,199,271 L58F probably damaging Het
Nlrp6 A G 7: 140,923,500 I506M probably benign Het
Nudt17 G A 3: 96,706,464 R266W probably damaging Het
Olfr1241 A G 2: 89,482,674 S154P probably damaging Het
Olfr1256 A G 2: 89,835,396 L183P probably damaging Het
Olfr651 A G 7: 104,553,573 Y218C probably damaging Het
Plcb4 A G 2: 135,961,794 E529G probably benign Het
Prss32 A T 17: 23,856,236 I187F possibly damaging Het
Rcl1 A G 19: 29,118,341 M109V probably benign Het
Rho A T 6: 115,935,197 M207L possibly damaging Het
Slc12a1 A G 2: 125,170,691 D291G probably damaging Het
Slco2b1 A C 7: 99,660,123 probably null Het
Stx11 T A 10: 12,941,917 D21V possibly damaging Het
Svep1 T A 4: 58,115,807 Y962F possibly damaging Het
Tbx5 G T 5: 119,836,907 probably benign Het
Tcf12 C A 9: 71,922,757 G141W probably damaging Het
Tmtc2 A G 10: 105,370,546 M296T probably damaging Het
Trim13 T A 14: 61,605,550 S339T probably benign Het
Ugt1a7c A G 1: 88,095,517 K133E possibly damaging Het
Usp40 A G 1: 87,950,017 V1050A probably benign Het
Vmn2r86 T G 10: 130,452,912 N240T probably damaging Het
Wdr36 T C 18: 32,859,261 V617A possibly damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr6 T C 9: 108,575,505 Y393C probably damaging Het
Zfp619 A T 7: 39,534,185 probably benign Het
Other mutations in Prss55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Prss55 APN 14 64077187 missense probably benign 0.02
IGL02061:Prss55 APN 14 64075743 missense possibly damaging 0.60
IGL02901:Prss55 APN 14 64077127 missense probably damaging 1.00
IGL03407:Prss55 APN 14 64077090 missense probably damaging 1.00
R0271:Prss55 UTSW 14 64075607 missense probably benign 0.02
R0900:Prss55 UTSW 14 64077178 missense probably benign 0.00
R1299:Prss55 UTSW 14 64081698 missense probably damaging 1.00
R1740:Prss55 UTSW 14 64075680 missense probably damaging 1.00
R1789:Prss55 UTSW 14 64075730 missense probably damaging 1.00
R1899:Prss55 UTSW 14 64079390 missense probably benign 0.33
R2291:Prss55 UTSW 14 64075722 missense probably damaging 1.00
R5510:Prss55 UTSW 14 64077125 missense probably damaging 1.00
R6977:Prss55 UTSW 14 64079336 missense probably damaging 0.99
R7912:Prss55 UTSW 14 64081731 missense possibly damaging 0.85
R7993:Prss55 UTSW 14 64081731 missense possibly damaging 0.85
Posted On2015-04-16