Incidental Mutation 'IGL02061:Prss55'
ID 185421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss55
Ensembl Gene ENSMUSG00000034623
Gene Name serine protease 55
Synonyms 4933401F05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02061
Quality Score
Status
Chromosome 14
Chromosomal Location 64312887-64327611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64313192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 231 (Y231H)
Ref Sequence ENSEMBL: ENSMUSP00000086752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089338] [ENSMUST00000171503]
AlphaFold Q14BX2
Predicted Effect possibly damaging
Transcript: ENSMUST00000089338
AA Change: Y231H

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086752
Gene: ENSMUSG00000034623
AA Change: Y231H

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
SMART Domains Protein: ENSMUSP00000128485
Gene: ENSMUSG00000034623

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 T A 13: 113,931,193 (GRCm39) D3E probably benign Het
Atp4a A G 7: 30,414,454 (GRCm39) Y159C probably damaging Het
Card10 A G 15: 78,662,415 (GRCm39) F861S probably damaging Het
Ccdc85c A G 12: 108,188,002 (GRCm39) V279A probably damaging Het
Cndp1 G A 18: 84,652,751 (GRCm39) R136W probably damaging Het
Eif2b3 A G 4: 116,885,608 (GRCm39) E50G possibly damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Eva1c C T 16: 90,663,163 (GRCm39) Q67* probably null Het
Exoc1 A G 5: 76,689,967 (GRCm39) E169G probably damaging Het
Fsd2 T A 7: 81,190,172 (GRCm39) K537* probably null Het
Gbf1 T G 19: 46,267,697 (GRCm39) S1236A possibly damaging Het
Gpt C A 15: 76,583,617 (GRCm39) probably benign Het
Gsap A G 5: 21,486,609 (GRCm39) probably benign Het
Hdac6 A C X: 7,809,878 (GRCm39) probably null Het
Ivns1abp T A 1: 151,227,324 (GRCm39) L44Q probably damaging Het
Kcnt1 T A 2: 25,790,494 (GRCm39) probably null Het
Kdm2b A G 5: 123,021,404 (GRCm39) I58T probably damaging Het
Mrpl23 C T 7: 142,094,319 (GRCm39) P76S probably benign Het
Nbea A G 3: 55,625,308 (GRCm39) I2261T possibly damaging Het
Oasl1 G A 5: 115,061,651 (GRCm39) V61M probably damaging Het
Or4g7 T A 2: 111,309,614 (GRCm39) F162I possibly damaging Het
Pabpc2 A G 18: 39,908,046 (GRCm39) Q437R probably benign Het
Ppp1r26 T A 2: 28,340,639 (GRCm39) C90S possibly damaging Het
Ppp3ca A G 3: 136,503,624 (GRCm39) T66A probably benign Het
Psmb10 T C 8: 106,664,343 (GRCm39) T38A probably damaging Het
Rfx5 A G 3: 94,865,792 (GRCm39) T364A probably benign Het
Scgb2b26 T C 7: 33,642,610 (GRCm39) N107S probably benign Het
Seh1l A G 18: 67,920,328 (GRCm39) probably benign Het
Skic3 T A 13: 76,277,660 (GRCm39) probably null Het
Sod1 T A 16: 90,022,126 (GRCm39) H111Q probably benign Het
Thbs2 A T 17: 14,900,176 (GRCm39) D592E probably benign Het
Tmem67 G A 4: 12,053,526 (GRCm39) A740V probably damaging Het
Tra2a A G 6: 49,226,032 (GRCm39) V136A possibly damaging Het
Utp18 T C 11: 93,772,967 (GRCm39) D158G probably benign Het
Zfp524 A G 7: 5,020,871 (GRCm39) E133G probably damaging Het
Other mutations in Prss55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Prss55 APN 14 64,314,636 (GRCm39) missense probably benign 0.02
IGL02625:Prss55 APN 14 64,316,818 (GRCm39) missense probably damaging 1.00
IGL02901:Prss55 APN 14 64,314,576 (GRCm39) missense probably damaging 1.00
IGL03407:Prss55 APN 14 64,314,539 (GRCm39) missense probably damaging 1.00
R0271:Prss55 UTSW 14 64,313,056 (GRCm39) missense probably benign 0.02
R0900:Prss55 UTSW 14 64,314,627 (GRCm39) missense probably benign 0.00
R1299:Prss55 UTSW 14 64,319,147 (GRCm39) missense probably damaging 1.00
R1740:Prss55 UTSW 14 64,313,129 (GRCm39) missense probably damaging 1.00
R1789:Prss55 UTSW 14 64,313,179 (GRCm39) missense probably damaging 1.00
R1899:Prss55 UTSW 14 64,316,839 (GRCm39) missense probably benign 0.33
R2291:Prss55 UTSW 14 64,313,171 (GRCm39) missense probably damaging 1.00
R5510:Prss55 UTSW 14 64,314,574 (GRCm39) missense probably damaging 1.00
R6977:Prss55 UTSW 14 64,316,785 (GRCm39) missense probably damaging 0.99
R7912:Prss55 UTSW 14 64,319,180 (GRCm39) missense possibly damaging 0.85
R7952:Prss55 UTSW 14 64,313,132 (GRCm39) missense probably damaging 1.00
R7980:Prss55 UTSW 14 64,316,138 (GRCm39) splice site probably null
R9187:Prss55 UTSW 14 64,314,531 (GRCm39) missense probably null 1.00
Posted On 2014-05-07