Incidental Mutation 'IGL02898:Prss52'
ID363488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss52
Ensembl Gene ENSMUSG00000021966
Gene Nameprotease, serine 52
Synonyms1700049K14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02898
Quality Score
Status
Chromosome14
Chromosomal Location64104286-64113755 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 64113666 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 300 (A300V)
Ref Sequence ENSEMBL: ENSMUSP00000022537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022537]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022537
AA Change: A300V

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022537
Gene: ENSMUSG00000021966
AA Change: A300V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Tryp_SPc 55 282 1.13e-73 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225122
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 A G 10: 80,342,231 probably benign Het
Brd3 A G 2: 27,459,741 S267P possibly damaging Het
Btaf1 A G 19: 36,969,068 T425A probably benign Het
Caskin1 A T 17: 24,502,409 E544D probably benign Het
Col20a1 C T 2: 180,989,112 Q58* probably null Het
Eif2ak1 G A 5: 143,889,452 V428I probably damaging Het
Fez2 A G 17: 78,384,755 I345T probably benign Het
Focad A T 4: 88,391,997 M1388L probably benign Het
Gfer T C 17: 24,695,947 R41G probably benign Het
Gm6614 T A 6: 141,994,297 Y140F probably benign Het
Gm9956 C T 10: 56,745,254 S4L unknown Het
Krtap6-1 G A 16: 89,031,755 G13D unknown Het
Megf8 A G 7: 25,346,508 E1492G possibly damaging Het
Myh7 T C 14: 54,983,740 I909V probably damaging Het
Olfr380 T A 11: 73,453,735 H159L probably damaging Het
Olfr741 T A 14: 50,486,186 S243T probably damaging Het
Otog A G 7: 46,310,138 E717G probably damaging Het
Pik3r4 A G 9: 105,650,406 I319M probably benign Het
Piwil4 A T 9: 14,706,287 probably benign Het
Plekho1 T A 3: 95,992,181 H100L probably damaging Het
Prr30 T G 14: 101,198,481 D215A probably benign Het
Ralgps2 C A 1: 156,817,744 K514N probably benign Het
Robo4 T C 9: 37,408,176 I463T probably damaging Het
Sars A T 3: 108,429,263 F268Y probably damaging Het
Sidt1 C T 16: 44,282,495 R289Q possibly damaging Het
Slco2a1 T C 9: 103,079,606 V539A probably damaging Het
Snrnp200 A G 2: 127,216,756 probably benign Het
Spag17 A G 3: 100,101,386 D1944G probably benign Het
Spata1 C T 3: 146,475,339 R288Q possibly damaging Het
Tatdn3 T C 1: 191,046,310 *233W probably null Het
Ttc3 T A 16: 94,419,426 V536E probably damaging Het
V1rd19 A C 7: 24,003,429 T107P probably damaging Het
Other mutations in Prss52
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0021:Prss52 UTSW 14 64104408 missense probably benign
R0271:Prss52 UTSW 14 64113678 missense probably benign 0.23
R0480:Prss52 UTSW 14 64113644 missense probably damaging 0.99
R1770:Prss52 UTSW 14 64113633 missense probably damaging 0.96
R2216:Prss52 UTSW 14 64113593 missense probably damaging 1.00
R3157:Prss52 UTSW 14 64113543 missense probably damaging 1.00
R3158:Prss52 UTSW 14 64113543 missense probably damaging 1.00
R5613:Prss52 UTSW 14 64109502 missense possibly damaging 0.76
R7049:Prss52 UTSW 14 64112572 missense probably damaging 1.00
R7529:Prss52 UTSW 14 64109588 missense probably benign 0.02
R8425:Prss52 UTSW 14 64112560 nonsense probably null
RF012:Prss52 UTSW 14 64113473 missense probably damaging 1.00
Posted On2015-12-18