Incidental Mutation 'R6625:Prss48'
ID 524715
Institutional Source Beutler Lab
Gene Symbol Prss48
Ensembl Gene ENSMUSG00000049013
Gene Name serine protease 48
Synonyms Gm1019, Esspl
MMRRC Submission 044747-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6625 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 85901117-85909798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85905373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 167 (Q167K)
Ref Sequence ENSEMBL: ENSMUSP00000051199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061343]
AlphaFold Q14B25
Predicted Effect probably benign
Transcript: ENSMUST00000061343
AA Change: Q167K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000051199
Gene: ENSMUSG00000049013
AA Change: Q167K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Tryp_SPc 39 271 9.46e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182969
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 91% (30/33)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Apcdd1 C A 18: 63,084,929 (GRCm39) D375E probably damaging Het
Cacna2d1 A T 5: 16,567,391 (GRCm39) R984W probably null Het
Csmd3 T G 15: 47,470,471 (GRCm39) I3402L probably benign Het
Dnah7a T A 1: 53,604,916 (GRCm39) T1281S probably benign Het
Dnmt3b T C 2: 153,507,233 (GRCm39) I139T probably benign Het
Dtnbp1 T C 13: 45,145,507 (GRCm39) E40G possibly damaging Het
Fam162b C T 10: 51,466,391 (GRCm39) G43R probably damaging Het
G2e3 T G 12: 51,400,572 (GRCm39) probably null Het
Kiss1r G A 10: 79,755,368 (GRCm39) V118I possibly damaging Het
Mre11a T C 9: 14,716,687 (GRCm39) M294T possibly damaging Het
Muc16 A T 9: 18,571,574 (GRCm39) V315D unknown Het
Nelfe C T 17: 35,073,334 (GRCm39) P290S probably benign Het
Or2v2 T A 11: 49,003,896 (GRCm39) Y219F probably damaging Het
Or5a3 T G 19: 12,400,205 (GRCm39) H177Q probably damaging Het
Pcolce2 T A 9: 95,560,492 (GRCm39) C180* probably null Het
Piezo2 A T 18: 63,154,333 (GRCm39) V2482D probably damaging Het
Plagl1 T C 10: 13,003,806 (GRCm39) probably benign Het
Pramel31 T A 4: 144,090,369 (GRCm39) Y470N probably damaging Het
Pramel57 C T 5: 95,669,342 (GRCm39) H124Y possibly damaging Het
Saxo4 G A 19: 10,459,100 (GRCm39) P65L probably damaging Het
Scyl1 C A 19: 5,810,854 (GRCm39) V488F probably damaging Het
Sh3pxd2b T A 11: 32,372,594 (GRCm39) L587Q possibly damaging Het
Sim1 A G 10: 50,860,082 (GRCm39) D648G probably benign Het
Snupn G A 9: 56,890,054 (GRCm39) V292I probably benign Het
St6galnac1 T C 11: 116,656,717 (GRCm39) H474R probably damaging Het
Thap12 G A 7: 98,365,277 (GRCm39) V482I probably benign Het
Usp13 T A 3: 32,949,025 (GRCm39) V454D probably damaging Het
Usp40 T C 1: 87,894,935 (GRCm39) I862V probably benign Het
Vmn2r59 A T 7: 41,693,177 (GRCm39) F474L probably benign Het
Zbtb38 T C 9: 96,569,366 (GRCm39) R573G probably damaging Het
Zfp493 C T 13: 67,934,514 (GRCm39) Q156* probably null Het
Zfp873 C A 10: 81,896,138 (GRCm39) P290T probably damaging Het
Other mutations in Prss48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03334:Prss48 APN 3 85,904,625 (GRCm39) missense probably damaging 1.00
R0554:Prss48 UTSW 3 85,908,228 (GRCm39) missense probably benign 0.06
R1903:Prss48 UTSW 3 85,905,614 (GRCm39) nonsense probably null
R2884:Prss48 UTSW 3 85,904,562 (GRCm39) missense probably benign 0.10
R5730:Prss48 UTSW 3 85,904,563 (GRCm39) missense possibly damaging 0.89
R5889:Prss48 UTSW 3 85,905,492 (GRCm39) missense probably damaging 1.00
R7357:Prss48 UTSW 3 85,904,528 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCGTAGATTGATTTGATCCAGTTG -3'
(R):5'- ACAGTGTGTGGCTTGGATCC -3'

Sequencing Primer
(F):5'- TGAATAATATTAGCTAGAGCCGAGTG -3'
(R):5'- CAGGCAAAGAATACTATGTGTCC -3'
Posted On 2018-06-22