Incidental Mutation 'R1078:Prss39'
ID 85712
Institutional Source Beutler Lab
Gene Symbol Prss39
Ensembl Gene ENSMUSG00000026125
Gene Name serine protease 39
Synonyms Tesp1
MMRRC Submission 039164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R1078 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 34537493-34542143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34541167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 224 (E224K)
Ref Sequence ENSEMBL: ENSMUSP00000027299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027299] [ENSMUST00000191604]
AlphaFold O70169
Predicted Effect probably benign
Transcript: ENSMUST00000027299
AA Change: E224K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027299
Gene: ENSMUSG00000026125
AA Change: E224K

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
Tryp_SPc 67 307 7.97e-60 SMART
low complexity region 348 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191604
SMART Domains Protein: ENSMUSP00000140460
Gene: ENSMUSG00000026125

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
Pfam:Trypsin 68 114 1.5e-12 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.4%
  • 20x: 94.4%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik T C 5: 66,145,698 (GRCm39) T138A unknown Het
Abi3bp T C 16: 56,474,444 (GRCm39) probably null Het
Alpk3 A T 7: 80,728,348 (GRCm39) M493L probably benign Het
Bace2 C T 16: 97,158,060 (GRCm39) A20V unknown Het
Bms1 T C 6: 118,382,182 (GRCm39) D452G probably benign Het
Ccdc187 T C 2: 26,184,389 (GRCm39) T3A probably damaging Het
Ctu2 T C 8: 123,208,238 (GRCm39) V95A possibly damaging Het
Cyp2a5 A G 7: 26,534,966 (GRCm39) K60E probably benign Het
Cyp4f13 T C 17: 33,144,542 (GRCm39) H318R probably damaging Het
Dlgap5 G A 14: 47,637,023 (GRCm39) T485M probably damaging Het
Dsp C T 13: 38,367,082 (GRCm39) probably benign Het
Ell2 T C 13: 75,894,538 (GRCm39) probably benign Het
Eml2 A T 7: 18,913,687 (GRCm39) Y168F probably benign Het
Entrep1 T A 19: 23,950,939 (GRCm39) R547S probably benign Het
Ep400 C T 5: 110,883,388 (GRCm39) probably benign Het
Ercc4 C A 16: 12,948,061 (GRCm39) A336D probably benign Het
Fat4 T C 3: 39,037,235 (GRCm39) L3629S probably benign Het
Gabbr2 C T 4: 46,664,833 (GRCm39) R925H probably damaging Het
Gfi1b A T 2: 28,503,877 (GRCm39) W108R probably damaging Het
Gtse1 C T 15: 85,746,508 (GRCm39) P108L probably damaging Het
Hfm1 A T 5: 107,026,696 (GRCm39) F140I probably damaging Het
Hyal2 T A 9: 107,449,445 (GRCm39) H400Q probably benign Het
Igfn1 A G 1: 135,902,585 (GRCm39) Y371H probably damaging Het
Il22b T G 10: 118,126,056 (GRCm39) *180C probably null Het
Kdm2b T C 5: 123,099,604 (GRCm39) T118A possibly damaging Het
Lama5 A T 2: 179,821,557 (GRCm39) probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lmo7 C T 14: 102,157,910 (GRCm39) probably benign Het
Lrrc37a G T 11: 103,388,457 (GRCm39) P2323T unknown Het
Lrrc38 A G 4: 143,077,088 (GRCm39) Y117C probably benign Het
Myo1e T C 9: 70,291,281 (GRCm39) V1024A probably benign Het
Myrfl T C 10: 116,612,637 (GRCm39) N904S possibly damaging Het
Or12d13 T A 17: 37,647,917 (GRCm39) I69F probably damaging Het
Or4k47 T C 2: 111,451,690 (GRCm39) H243R probably damaging Het
Or9g4b T C 2: 85,616,437 (GRCm39) V194A possibly damaging Het
Pld4 A T 12: 112,729,876 (GRCm39) I53F probably benign Het
Plekhg4 T A 8: 106,108,309 (GRCm39) C1117* probably null Het
Psme1 G T 14: 55,818,107 (GRCm39) G149V probably damaging Het
Sanbr A C 11: 23,561,762 (GRCm39) I358S probably benign Het
Soat2 T A 15: 102,061,573 (GRCm39) probably null Het
Stab2 C T 10: 86,742,997 (GRCm39) probably null Het
Tcf7l2 A G 19: 55,731,627 (GRCm39) T127A probably benign Het
Tcp1 T C 17: 13,142,091 (GRCm39) probably benign Het
Thbs4 G A 13: 92,899,434 (GRCm39) probably benign Het
Tmf1 T C 6: 97,150,261 (GRCm39) D482G probably damaging Het
Trim66 G T 7: 109,071,526 (GRCm39) P591H probably damaging Het
Umodl1 T C 17: 31,178,347 (GRCm39) S108P probably benign Het
Unc79 T G 12: 103,041,112 (GRCm39) M715R probably benign Het
Usp34 C A 11: 23,383,175 (GRCm39) probably benign Het
Utrn T G 10: 12,331,310 (GRCm39) probably null Het
Zfp830 T C 11: 82,656,165 (GRCm39) probably null Het
Other mutations in Prss39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Prss39 APN 1 34,541,216 (GRCm39) missense probably benign 0.01
IGL01468:Prss39 APN 1 34,538,481 (GRCm39) splice site probably benign
IGL01744:Prss39 APN 1 34,541,280 (GRCm39) splice site probably null
IGL02224:Prss39 APN 1 34,538,459 (GRCm39) missense probably damaging 1.00
R0128:Prss39 UTSW 1 34,541,281 (GRCm39) unclassified probably benign
R0130:Prss39 UTSW 1 34,541,281 (GRCm39) unclassified probably benign
R0269:Prss39 UTSW 1 34,539,279 (GRCm39) missense probably damaging 0.96
R0617:Prss39 UTSW 1 34,539,279 (GRCm39) missense probably damaging 0.96
R1539:Prss39 UTSW 1 34,537,616 (GRCm39) missense possibly damaging 0.85
R1796:Prss39 UTSW 1 34,539,114 (GRCm39) missense possibly damaging 0.70
R4644:Prss39 UTSW 1 34,541,207 (GRCm39) missense probably damaging 0.96
R5417:Prss39 UTSW 1 34,539,209 (GRCm39) missense probably benign
R5496:Prss39 UTSW 1 34,539,342 (GRCm39) missense possibly damaging 0.92
R5511:Prss39 UTSW 1 34,541,878 (GRCm39) missense possibly damaging 0.65
R5977:Prss39 UTSW 1 34,541,783 (GRCm39) missense probably damaging 1.00
R6333:Prss39 UTSW 1 34,539,150 (GRCm39) missense probably benign 0.02
R6833:Prss39 UTSW 1 34,537,697 (GRCm39) missense possibly damaging 0.84
R6834:Prss39 UTSW 1 34,537,697 (GRCm39) missense possibly damaging 0.84
R7230:Prss39 UTSW 1 34,541,228 (GRCm39) missense probably damaging 0.98
R7261:Prss39 UTSW 1 34,539,369 (GRCm39) missense probably damaging 0.99
R7467:Prss39 UTSW 1 34,538,473 (GRCm39) critical splice donor site probably null
R7509:Prss39 UTSW 1 34,539,280 (GRCm39) missense possibly damaging 0.85
R7709:Prss39 UTSW 1 34,541,709 (GRCm39) missense probably damaging 1.00
R7894:Prss39 UTSW 1 34,539,308 (GRCm39) missense probably benign 0.16
R8730:Prss39 UTSW 1 34,539,198 (GRCm39) missense probably damaging 1.00
R9405:Prss39 UTSW 1 34,538,344 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTTGAAAGCTGAGCCCCTTCC -3'
(R):5'- ATGCTATTAGACCCACCACCTGCG -3'

Sequencing Primer
(F):5'- AGGGAATAGTCTCAGTCCCCTTG -3'
(R):5'- ACACGAGCAGCCTAGTGG -3'
Posted On 2013-11-18