Incidental Mutation 'R7105:Prss58'
ID 551104
Institutional Source Beutler Lab
Gene Symbol Prss58
Ensembl Gene ENSMUSG00000051936
Gene Name serine protease 58
Synonyms BC048599
MMRRC Submission 045197-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R7105 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 40872204-40877321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40874700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 47 (H47R)
Ref Sequence ENSEMBL: ENSMUSP00000069833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063523]
AlphaFold Q8BW11
Predicted Effect probably damaging
Transcript: ENSMUST00000063523
AA Change: H47R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069833
Gene: ENSMUSG00000051936
AA Change: H47R

DomainStartEndE-ValueType
Tryp_SPc 22 234 4.49e-36 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (65/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,347,842 (GRCm39) I3565N probably damaging Het
Adam8 T C 7: 139,569,968 (GRCm39) E99G probably benign Het
Adnp2 A C 18: 80,171,366 (GRCm39) H1014Q possibly damaging Het
Agbl4 T A 4: 111,423,920 (GRCm39) N315K probably benign Het
Ankrd33b G T 15: 31,305,214 (GRCm39) N183K probably damaging Het
Arhgef39 A G 4: 43,498,913 (GRCm39) S113P possibly damaging Het
Bdp1 G A 13: 100,206,689 (GRCm39) P618S probably damaging Het
Bhlhe40 C T 6: 108,641,997 (GRCm39) P314S possibly damaging Het
Birc2 A C 9: 7,819,442 (GRCm39) I490S probably damaging Het
Blm T C 7: 80,149,516 (GRCm39) I698V probably benign Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
Car12 A G 9: 66,659,688 (GRCm39) T238A probably damaging Het
Cend1 G A 7: 141,007,565 (GRCm39) P85L probably benign Het
Cftr A T 6: 18,318,971 (GRCm39) D1337V probably damaging Het
Chsy3 T A 18: 59,309,491 (GRCm39) M248K probably damaging Het
Chtf8 A G 8: 107,611,883 (GRCm39) F352S probably damaging Het
Cimip4 T A 15: 78,270,318 (GRCm39) D150V possibly damaging Het
Csf2ra T C 19: 61,213,458 (GRCm39) D384G possibly damaging Het
Ctnnbip1 T C 4: 149,630,937 (GRCm39) S59P probably benign Het
Cyth3 A G 5: 143,693,027 (GRCm39) N312D probably benign Het
Dtnb T C 12: 3,698,391 (GRCm39) probably null Het
Duox2 A G 2: 122,120,033 (GRCm39) S826P possibly damaging Het
Enthd1 C T 15: 80,393,410 (GRCm39) A273T probably benign Het
Gm3138 T C 14: 15,632,304 (GRCm39) V159A possibly damaging Het
Hhip T C 8: 80,701,638 (GRCm39) D632G probably benign Het
Igfn1 A T 1: 135,911,956 (GRCm39) C114S probably benign Het
Islr2 T C 9: 58,105,097 (GRCm39) D765G probably damaging Het
Klf14 TCCCC TCCC 6: 30,935,476 (GRCm39) probably null Het
Mapk12 G A 15: 89,015,361 (GRCm39) P362L probably benign Het
Msi1 T G 5: 115,571,929 (GRCm39) F96V probably damaging Het
Mthfd1l T C 10: 4,053,261 (GRCm39) V870A probably benign Het
Nfat5 T C 8: 108,095,823 (GRCm39) S1355P possibly damaging Het
Oplah T C 15: 76,181,887 (GRCm39) N1079D probably damaging Het
Or2ah1 G T 2: 85,654,224 (GRCm39) R303M probably benign Het
Osbpl1a T A 18: 12,900,020 (GRCm39) I645F probably benign Het
Pank4 T C 4: 155,064,624 (GRCm39) S728P probably benign Het
Parp2 TTGCCATAAGTGCTAAATGAAGCC T 14: 51,047,521 (GRCm39) probably null Het
Piezo1 A G 8: 123,208,857 (GRCm39) I2503T unknown Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhs1 T A 19: 56,465,647 (GRCm39) F204Y probably damaging Het
Pramel26 T C 4: 143,537,341 (GRCm39) N330S probably benign Het
Pramel32 G A 4: 88,548,339 (GRCm39) S22F probably damaging Het
Prep T A 10: 45,002,159 (GRCm39) I438N probably benign Het
Rad51ap2 T G 12: 11,508,278 (GRCm39) D733E possibly damaging Het
Robo1 A T 16: 72,539,049 (GRCm39) I31F probably damaging Het
Setd2 A G 9: 110,377,328 (GRCm39) Y381C probably damaging Het
Slc47a2 A G 11: 61,233,269 (GRCm39) V87A probably benign Het
Slc5a9 T C 4: 111,755,892 (GRCm39) N2S probably benign Het
Spata13 A G 14: 60,991,319 (GRCm39) D1024G probably damaging Het
Stat1 T G 1: 52,190,408 (GRCm39) N554K probably benign Het
Suclg2 T C 6: 95,572,635 (GRCm39) D110G possibly damaging Het
Sult1c2 T A 17: 54,280,917 (GRCm39) probably null Het
Taf5l A G 8: 124,729,951 (GRCm39) I246T probably damaging Het
Tcof1 A T 18: 60,976,368 (GRCm39) D80E probably damaging Het
Tmem233 T C 5: 116,221,057 (GRCm39) Y63C probably damaging Het
Tshz3 A G 7: 36,469,181 (GRCm39) E390G probably damaging Het
Ttn T C 2: 76,560,610 (GRCm39) T29264A possibly damaging Het
Ubr5 T C 15: 38,009,019 (GRCm39) T1065A Het
Vcp A G 4: 42,985,991 (GRCm39) V341A probably damaging Het
Vmn1r176 A T 7: 23,534,748 (GRCm39) L135* probably null Het
Vmn1r57 T A 7: 5,223,499 (GRCm39) I8N probably damaging Het
Ythdc2 C T 18: 44,967,630 (GRCm39) P209S probably damaging Het
Zfp213 A T 17: 23,777,178 (GRCm39) V288D probably benign Het
Zfp362 T C 4: 128,668,319 (GRCm39) I418V probably damaging Het
Zfp707 C A 15: 75,846,595 (GRCm39) T215K Het
Zfp957 G C 14: 79,450,402 (GRCm39) R466G probably benign Het
Other mutations in Prss58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Prss58 APN 6 40,872,399 (GRCm39) missense probably damaging 1.00
IGL01108:Prss58 APN 6 40,874,278 (GRCm39) missense probably damaging 1.00
IGL01645:Prss58 APN 6 40,874,244 (GRCm39) missense probably damaging 0.98
R0032:Prss58 UTSW 6 40,872,633 (GRCm39) missense probably benign 0.00
R0032:Prss58 UTSW 6 40,872,633 (GRCm39) missense probably benign 0.00
R1622:Prss58 UTSW 6 40,874,248 (GRCm39) missense possibly damaging 0.84
R2511:Prss58 UTSW 6 40,874,734 (GRCm39) missense probably damaging 1.00
R4292:Prss58 UTSW 6 40,874,244 (GRCm39) missense probably damaging 0.98
R5093:Prss58 UTSW 6 40,874,751 (GRCm39) missense probably damaging 1.00
R5601:Prss58 UTSW 6 40,874,783 (GRCm39) missense possibly damaging 0.92
R5992:Prss58 UTSW 6 40,874,703 (GRCm39) missense probably damaging 1.00
R6806:Prss58 UTSW 6 40,874,666 (GRCm39) missense probably damaging 0.98
R7136:Prss58 UTSW 6 40,876,987 (GRCm39) critical splice donor site probably null
R7344:Prss58 UTSW 6 40,872,399 (GRCm39) missense probably damaging 1.00
R7699:Prss58 UTSW 6 40,872,322 (GRCm39) missense probably damaging 1.00
R7700:Prss58 UTSW 6 40,872,322 (GRCm39) missense probably damaging 1.00
R7954:Prss58 UTSW 6 40,872,543 (GRCm39) missense possibly damaging 0.92
R8305:Prss58 UTSW 6 40,872,594 (GRCm39) missense probably benign 0.00
R8370:Prss58 UTSW 6 40,872,358 (GRCm39) missense probably damaging 1.00
R9488:Prss58 UTSW 6 40,874,382 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTTTCCATGGGATCTGCTGG -3'
(R):5'- AGTGAAATATATTCCCTGCCCC -3'

Sequencing Primer
(F):5'- GAATCACTTGAAGGTTCCTAGAATG -3'
(R):5'- TGCTGTTATACTTTTGAACTTTTTGG -3'
Posted On 2019-05-15