Incidental Mutation 'R5730:Prss48'
ID 452705
Institutional Source Beutler Lab
Gene Symbol Prss48
Ensembl Gene ENSMUSG00000049013
Gene Name serine protease 48
Synonyms Gm1019, Esspl
MMRRC Submission 043191-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5730 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 85901117-85909798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 85904563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 212 (M212L)
Ref Sequence ENSEMBL: ENSMUSP00000051199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061343]
AlphaFold Q14B25
Predicted Effect possibly damaging
Transcript: ENSMUST00000061343
AA Change: M212L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051199
Gene: ENSMUSG00000049013
AA Change: M212L

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,987,617 (GRCm39) V2967A possibly damaging Het
Apaf1 A T 10: 90,856,633 (GRCm39) I858K possibly damaging Het
Baiap3 T C 17: 25,466,498 (GRCm39) T466A probably benign Het
Brca2 T A 5: 150,492,470 (GRCm39) S3162T possibly damaging Het
Brd1 T G 15: 88,601,248 (GRCm39) N462T probably benign Het
Carm1 G A 9: 21,491,636 (GRCm39) R235H probably benign Het
Cd80 T C 16: 38,303,097 (GRCm39) probably null Het
Clip4 A G 17: 72,117,954 (GRCm39) Y333C probably damaging Het
Col7a1 T C 9: 108,801,310 (GRCm39) probably null Het
Csmd1 G A 8: 16,235,206 (GRCm39) Q1206* probably null Het
Cyp17a1 A G 19: 46,661,095 (GRCm39) I63T possibly damaging Het
Diaph1 A G 18: 38,036,829 (GRCm39) Y119H unknown Het
Dst T G 1: 34,156,607 (GRCm39) probably null Het
Fgfr1 A G 8: 26,063,827 (GRCm39) T785A probably damaging Het
Gm1553 A G 10: 82,323,945 (GRCm39) F94S unknown Het
Gpbar1 A G 1: 74,318,195 (GRCm39) N146S probably damaging Het
Gpc5 A G 14: 116,025,726 (GRCm39) T588A possibly damaging Het
Gramd2a A G 9: 59,618,489 (GRCm39) H9R probably damaging Het
Klk1b11 G A 7: 43,424,199 (GRCm39) S6N probably benign Het
Lrp1 A G 10: 127,419,703 (GRCm39) S969P probably benign Het
Lyz2 G T 10: 117,114,587 (GRCm39) A114E probably damaging Het
Madd T C 2: 90,988,454 (GRCm39) D1193G probably damaging Het
Mrpl39 C T 16: 84,529,322 (GRCm39) G107R probably damaging Het
Mthfd2 C T 6: 83,294,441 (GRCm39) R24H probably benign Het
Or2q1 C T 6: 42,795,094 (GRCm39) R230* probably null Het
Or4a68 T C 2: 89,269,780 (GRCm39) N281S probably damaging Het
Ovch2 A G 7: 107,392,606 (GRCm39) C246R probably damaging Het
Phf14 A T 6: 11,953,319 (GRCm39) I353F possibly damaging Het
Ppp2r5a C T 1: 191,104,732 (GRCm39) V105I probably benign Het
Prr14l T C 5: 32,950,947 (GRCm39) T1949A probably damaging Het
Pstk A T 7: 130,975,503 (GRCm39) D152V probably damaging Het
Scn2a C A 2: 65,512,882 (GRCm39) S214* probably null Het
Scn3a T G 2: 65,325,604 (GRCm39) N971T probably benign Het
Syne3 T C 12: 104,927,713 (GRCm39) I250V probably benign Het
Synpo2 T C 3: 122,907,768 (GRCm39) D516G probably benign Het
Tcea3 T C 4: 135,992,204 (GRCm39) V209A probably benign Het
Tnr A G 1: 159,715,892 (GRCm39) S885G probably benign Het
Trak2 T C 1: 58,960,966 (GRCm39) D188G probably damaging Het
Tubb1 A G 2: 174,299,562 (GRCm39) I415V probably benign Het
Virma T A 4: 11,542,154 (GRCm39) M1580K probably benign Het
Vmn1r120 A T 7: 20,786,934 (GRCm39) I259N possibly damaging Het
Vmn1r64 G A 7: 5,887,522 (GRCm39) T7I probably benign 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
R5889:Prss48 UTSW 3 85,905,492 (GRCm39) missense probably damaging 1.00
R6625:Prss48 UTSW 3 85,905,373 (GRCm39) missense probably benign 0.02
R7357:Prss48 UTSW 3 85,904,528 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-01-03