Incidental Mutation 'IGL02061:Prss55'
ID 185421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss55
Ensembl Gene ENSMUSG00000034623
Gene Name protease, serine 55
Synonyms 4933401F05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02061
Quality Score
Status
Chromosome 14
Chromosomal Location 64075438-64090162 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64075743 bp (GRCm38)
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: 113,794,657 D3E probably benign Het
Atp4a A G 7: 30,715,029 Y159C probably damaging Het
Card10 A G 15: 78,778,215 F861S probably damaging Het
Ccdc85c A G 12: 108,221,743 V279A probably damaging Het
Cndp1 G A 18: 84,634,626 R136W probably damaging Het
Eif2b3 A G 4: 117,028,411 E50G possibly damaging Het
Eva1c C T 16: 90,866,275 Q67* probably null Het
Exoc1 A G 5: 76,542,120 E169G probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fsd2 T A 7: 81,540,424 K537* probably null Het
Gbf1 T G 19: 46,279,258 S1236A possibly damaging Het
Gpt C A 15: 76,699,417 probably benign Het
Gsap A G 5: 21,281,611 probably benign Het
Hdac6 A C X: 7,943,639 probably null Het
Ivns1abp T A 1: 151,351,573 L44Q probably damaging Het
Kcnt1 T A 2: 25,900,482 probably null Het
Kdm2b A G 5: 122,883,341 I58T probably damaging Het
Mrpl23 C T 7: 142,540,582 P76S probably benign Het
Nbea A G 3: 55,717,887 I2261T possibly damaging Het
Oasl1 G A 5: 114,923,592 V61M probably damaging Het
Olfr1288 T A 2: 111,479,269 F162I possibly damaging Het
Pabpc2 A G 18: 39,774,993 Q437R probably benign Het
Ppp1r26 T A 2: 28,450,627 C90S possibly damaging Het
Ppp3ca A G 3: 136,797,863 T66A probably benign Het
Psmb10 T C 8: 105,937,711 T38A probably damaging Het
Rfx5 A G 3: 94,958,481 T364A probably benign Het
Scgb2b26 T C 7: 33,943,185 N107S probably benign Het
Seh1l A G 18: 67,787,258 probably benign Het
Sod1 T A 16: 90,225,238 H111Q probably benign Het
Thbs2 A T 17: 14,679,914 D592E probably benign Het
Tmem67 G A 4: 12,053,526 A740V probably damaging Het
Tra2a A G 6: 49,249,098 V136A possibly damaging Het
Ttc37 T A 13: 76,129,541 probably null Het
Utp18 T C 11: 93,882,141 D158G probably benign Het
Zfp524 A G 7: 5,017,872 E133G probably damaging Het
Other mutations in Prss55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Prss55 APN 14 64077187 missense probably benign 0.02
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
R7912:Prss55 UTSW 14 64081731 missense possibly damaging 0.85
R7952:Prss55 UTSW 14 64075683 missense probably damaging 1.00
R7980:Prss55 UTSW 14 64078689 splice site probably null
R9187:Prss55 UTSW 14 64077082 missense probably null 1.00
Posted On 2014-05-07