Incidental Mutation 'IGL01921:Prss21'
ID180116
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss21
Ensembl Gene ENSMUSG00000024116
Gene Nameprotease, serine 21
SynonymsmT4, testisin, TESP5, 1700023E12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL01921
Quality Score
Status
Chromosome17
Chromosomal Location23868056-23873114 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23872440 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 217 (M217K)
Ref Sequence ENSEMBL: ENSMUSP00000024928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024928]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024928
AA Change: M217K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000024928
Gene: ENSMUSG00000024116
AA Change: M217K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Tryp_SPc 54 291 1.18e-94 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 cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for one knock-out allele impaires fertilization of epididymal sperm only in an in vitro experiment. Mice homozygous for another knock-out allele exhibit defective sperm maturation during passage through the epididymis and decreased spermfertilization capability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Prss21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03151:Prss21 APN 17 23869402 missense probably damaging 0.98
R1136:Prss21 UTSW 17 23872994 missense probably damaging 1.00
R2299:Prss21 UTSW 17 23869589 missense probably benign 0.18
R3615:Prss21 UTSW 17 23872831 missense probably benign 0.20
R3616:Prss21 UTSW 17 23872831 missense probably benign 0.20
R4589:Prss21 UTSW 17 23872822 missense possibly damaging 0.96
R5691:Prss21 UTSW 17 23868785 splice site probably null
R6946:Prss21 UTSW 17 23868164 missense possibly damaging 0.92
R7835:Prss21 UTSW 17 23869451 missense possibly damaging 0.57
R8243:Prss21 UTSW 17 23869402 missense probably damaging 0.98
R8421:Prss21 UTSW 17 23869368 missense possibly damaging 0.92
Posted On2014-05-07