Incidental Mutation 'R2299:Prss21'
ID 245281
Institutional Source Beutler Lab
Gene Symbol Prss21
Ensembl Gene ENSMUSG00000024116
Gene Name serine protease 21
Synonyms TESP5, mT4, 1700023E12Rik, testisin
MMRRC Submission 040298-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2299 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24087046-24092087 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24088563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 176 (E176G)
Ref Sequence ENSEMBL: ENSMUSP00000024928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024928]
AlphaFold Q9JHJ7
Predicted Effect probably benign
Transcript: ENSMUST00000024928
AA Change: E176G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024928
Gene: ENSMUSG00000024116
AA Change: E176G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Tryp_SPc 54 291 1.18e-94 SMART
Meta Mutation Damage Score 0.1891 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (37/37)
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
4933434E20Rik A G 3: 89,971,845 (GRCm39) N68S possibly damaging Het
5031439G07Rik A C 15: 84,837,486 (GRCm39) F276V possibly damaging Het
Abca12 C T 1: 71,297,381 (GRCm39) V2370I probably damaging Het
Acsl3 T G 1: 78,676,827 (GRCm39) C469W probably damaging Het
Adgrg5 A T 8: 95,665,204 (GRCm39) I372F possibly damaging Het
Ankrd42 A G 7: 92,239,462 (GRCm39) I442T probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bmpr1b C A 3: 141,550,963 (GRCm39) R376L probably damaging Het
C1qtnf6 T A 15: 78,409,542 (GRCm39) T102S probably benign Het
Chordc1 T C 9: 18,213,404 (GRCm39) L85P probably damaging Het
Clec2j T A 6: 128,632,199 (GRCm39) noncoding transcript Het
Copa T C 1: 171,949,292 (GRCm39) I1223T probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyfip2 T A 11: 46,176,958 (GRCm39) E74V probably benign Het
Dsg1a A T 18: 20,473,207 (GRCm39) D760V probably damaging Het
Folr1 A G 7: 101,513,199 (GRCm39) L32P probably damaging Het
Galnt13 A T 2: 54,950,595 (GRCm39) R425S possibly damaging Het
Gm4559 A T 7: 141,827,572 (GRCm39) C177S unknown Het
H2bc9 A G 13: 23,727,354 (GRCm39) S57P probably damaging Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Kansl1l T C 1: 66,812,636 (GRCm39) D459G probably damaging Het
Limd1 A T 9: 123,345,942 (GRCm39) K574* probably null Het
Mmrn1 A G 6: 60,953,425 (GRCm39) K569E probably damaging Het
Or51f1d T C 7: 102,700,789 (GRCm39) W95R probably damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Ppwd1 T C 13: 104,356,571 (GRCm39) M315V probably benign Het
Ptpn23 A G 9: 110,221,581 (GRCm39) I173T possibly damaging Het
Rit1 T A 3: 88,633,377 (GRCm39) probably null Het
Rnf14 C T 18: 38,441,138 (GRCm39) A176V probably benign Het
Sema5a T A 15: 32,562,922 (GRCm39) V311E possibly damaging Het
Slc28a2 C T 2: 122,272,259 (GRCm39) Q34* probably null Het
Spire1 A C 18: 67,663,493 (GRCm39) L36R probably damaging Het
Usp33 T A 3: 152,080,258 (GRCm39) V463E probably damaging Het
Vcpip1 A G 1: 9,815,944 (GRCm39) L813S possibly damaging Het
Vmn1r174 A T 7: 23,453,429 (GRCm39) I32F probably benign Het
Zbtb24 G A 10: 41,340,577 (GRCm39) V536M probably damaging Het
Other mutations in Prss21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Prss21 APN 17 24,091,414 (GRCm39) missense possibly damaging 0.48
IGL03151:Prss21 APN 17 24,088,376 (GRCm39) missense probably damaging 0.98
R1136:Prss21 UTSW 17 24,091,968 (GRCm39) missense probably damaging 1.00
R3615:Prss21 UTSW 17 24,091,805 (GRCm39) missense probably benign 0.20
R3616:Prss21 UTSW 17 24,091,805 (GRCm39) missense probably benign 0.20
R4589:Prss21 UTSW 17 24,091,796 (GRCm39) missense possibly damaging 0.96
R5691:Prss21 UTSW 17 24,087,759 (GRCm39) splice site probably null
R6946:Prss21 UTSW 17 24,087,138 (GRCm39) missense possibly damaging 0.92
R7835:Prss21 UTSW 17 24,088,425 (GRCm39) missense possibly damaging 0.57
R8243:Prss21 UTSW 17 24,088,376 (GRCm39) missense probably damaging 0.98
R8421:Prss21 UTSW 17 24,088,342 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TTGGTGAGCTGACATCCAGG -3'
(R):5'- GTCCTTCTTGCAAGCAGAAG -3'

Sequencing Primer
(F):5'- GCCATCTCTCTGGAACCTACAGG -3'
(R):5'- TCCTTCTTGCAAGCAGAAGTAAGG -3'
Posted On 2014-10-30