Incidental Mutation 'IGL01638:Prss55'
ID93127
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: 0.069) question?
Stock #IGL01638
Quality Score
Status
Chromosome14
Chromosomal Location64075438-64090162 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64077187 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 178 (V178A)
Ref Sequence ENSEMBL: ENSMUSP00000086752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089338] [ENSMUST00000171503]
Predicted Effect probably benign
Transcript: ENSMUST00000089338
AA Change: V178A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000086752
Gene: ENSMUSG00000034623
AA Change: V178A

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 benign
Transcript: ENSMUST00000171503
AA Change: V178A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128485
Gene: ENSMUSG00000034623
AA Change: V178A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,974,311 N2377D probably damaging Het
Adamts9 T C 6: 92,872,428 T436A probably benign Het
Adgrb3 T A 1: 25,559,751 probably benign Het
Ajap1 A G 4: 153,432,236 V216A possibly damaging Het
Akap7 T A 10: 25,267,425 I124F probably damaging Het
Arfgef2 G A 2: 166,873,945 V1385M probably damaging Het
Arhgap30 A G 1: 171,397,570 K65E probably damaging Het
Cacna1a T C 8: 84,571,827 F1260S probably damaging Het
Cad T A 5: 31,067,614 C954S probably damaging Het
Fcmr A T 1: 130,875,122 E157D probably benign Het
Gm4204 A T 1: 135,233,135 noncoding transcript Het
Gzmn A T 14: 56,169,019 D16E probably benign Het
Krt86 A C 15: 101,475,472 probably benign Het
Macc1 T C 12: 119,446,511 L338P probably benign Het
Ms4a6d A T 19: 11,587,168 L113Q probably damaging Het
Myh15 T C 16: 49,069,480 S145P probably damaging Het
Nav3 T C 10: 109,852,863 K518E probably damaging Het
Olfr974 T C 9: 39,942,520 S87P probably benign Het
Parp11 T A 6: 127,491,529 F181I probably benign Het
Ppil1 C A 17: 29,261,792 K52N probably benign Het
Prl5a1 T A 13: 28,145,439 C34S possibly damaging Het
S100a7a A G 3: 90,655,530 D8G probably benign Het
Sh3glb2 A G 2: 30,345,850 V310A possibly damaging Het
Slc22a7 T C 17: 46,437,994 probably null Het
Slc27a6 A G 18: 58,607,813 D482G probably damaging Het
Smarcc2 T A 10: 128,488,074 probably benign Het
Specc1l T A 10: 75,246,205 Y478* probably null Het
Spryd3 A G 15: 102,130,276 probably null Het
Tcerg1l G A 7: 138,280,076 R295C probably damaging Het
Trpv1 T C 11: 73,253,329 I637T probably damaging Het
Ttc7 A C 17: 87,359,112 probably null Het
Vmn1r6 C T 6: 57,003,192 Q280* probably null Het
Other mutations in Prss55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02061:Prss55 APN 14 64075743 missense possibly damaging 0.60
IGL02625:Prss55 APN 14 64079369 missense probably damaging 1.00
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
Posted On2013-12-09