Incidental Mutation 'IGL01473:Prss36'
ID 88352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss36
Ensembl Gene ENSMUSG00000070371
Gene Name serine protease 36
Synonyms C330007D15Rik, polyserase-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01473
Quality Score
Status
Chromosome 7
Chromosomal Location 127531810-127545897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127543873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 166 (H166R)
Ref Sequence ENSEMBL: ENSMUSP00000112659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094026] [ENSMUST00000118755]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000094026
AA Change: H166R

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371
AA Change: H166R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 47 287 3.75e-88 SMART
Pfam:Trypsin 325 556 1.2e-16 PFAM
Pfam:Trypsin 599 798 6.6e-20 PFAM
Pfam:DUF1986 607 707 1.4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118755
AA Change: H166R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371
AA Change: H166R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 47 287 3.75e-88 SMART
Pfam:Trypsin 325 545 9.7e-18 PFAM
Pfam:Trypsin 588 787 6.5e-20 PFAM
Pfam:DUF1986 590 696 8e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T C 16: 29,135,542 (GRCm39) Y350C probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Clcn1 C A 6: 42,268,637 (GRCm39) A181D probably damaging Het
Cylc1 G T X: 110,166,449 (GRCm39) K243N unknown Het
Dsp A G 13: 38,351,547 (GRCm39) Y122C probably damaging Het
Exoc5 A G 14: 49,251,751 (GRCm39) V665A possibly damaging Het
Fcho1 G A 8: 72,164,782 (GRCm39) P500S probably benign Het
Flg2 A G 3: 93,110,327 (GRCm39) E785G unknown Het
Fpr1 A G 17: 18,097,954 (GRCm39) S12P possibly damaging Het
Hydin G T 8: 111,081,585 (GRCm39) G327V probably damaging Het
Hydin A T 8: 111,038,792 (GRCm39) M177L probably benign Het
Itga10 G A 3: 96,554,957 (GRCm39) G97E probably damaging Het
Khdc1c T A 1: 21,439,130 (GRCm39) Y39N possibly damaging Het
Lrp1b T G 2: 40,501,498 (GRCm39) T202P probably damaging Het
Marchf10 T C 11: 105,280,431 (GRCm39) K618R probably damaging Het
Mdc1 C A 17: 36,158,912 (GRCm39) L431I probably benign Het
Mmp17 A G 5: 129,683,472 (GRCm39) D536G probably benign Het
Myh8 G A 11: 67,192,651 (GRCm39) probably null Het
Odad3 C A 9: 21,906,675 (GRCm39) probably null Het
Pop4 A G 7: 37,963,820 (GRCm39) V154A probably benign Het
Ppp1r13l C T 7: 19,109,193 (GRCm39) R608C probably damaging Het
Rab11fip3 C T 17: 26,287,709 (GRCm39) R148Q possibly damaging Het
Rbm39 T A 2: 156,014,899 (GRCm39) R49* probably null Het
S100a11 T C 3: 93,433,413 (GRCm39) C86R probably damaging Het
Skint7 T C 4: 111,839,402 (GRCm39) I232T probably damaging Het
Smchd1 G A 17: 71,696,745 (GRCm39) T1210I probably benign Het
Speg C T 1: 75,404,929 (GRCm39) T2907I possibly damaging Het
Spz1 A T 13: 92,711,764 (GRCm39) C237* probably null Het
Sun3 G T 11: 8,979,394 (GRCm39) D42E probably benign Het
Tgds C T 14: 118,365,626 (GRCm39) probably benign Het
Tnxb G A 17: 34,904,675 (GRCm39) D1270N probably damaging Het
Vmn2r78 A C 7: 86,569,520 (GRCm39) T138P possibly damaging Het
Wdfy1 T C 1: 79,685,182 (GRCm39) I351V probably benign Het
Other mutations in Prss36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Prss36 APN 7 127,544,099 (GRCm39) splice site probably benign
IGL03139:Prss36 APN 7 127,532,783 (GRCm39) missense probably damaging 1.00
R0111:Prss36 UTSW 7 127,533,717 (GRCm39) missense probably damaging 1.00
R0295:Prss36 UTSW 7 127,535,027 (GRCm39) missense possibly damaging 0.80
R1771:Prss36 UTSW 7 127,532,625 (GRCm39) missense probably damaging 1.00
R1827:Prss36 UTSW 7 127,532,664 (GRCm39) missense probably damaging 1.00
R3935:Prss36 UTSW 7 127,533,780 (GRCm39) missense probably damaging 1.00
R4257:Prss36 UTSW 7 127,532,010 (GRCm39) unclassified probably benign
R4694:Prss36 UTSW 7 127,534,787 (GRCm39) missense probably damaging 1.00
R5384:Prss36 UTSW 7 127,535,871 (GRCm39) missense probably damaging 1.00
R5464:Prss36 UTSW 7 127,533,405 (GRCm39) missense probably damaging 1.00
R5524:Prss36 UTSW 7 127,533,637 (GRCm39) nonsense probably null
R5749:Prss36 UTSW 7 127,532,814 (GRCm39) missense probably damaging 1.00
R5905:Prss36 UTSW 7 127,532,744 (GRCm39) missense probably benign 0.26
R5992:Prss36 UTSW 7 127,544,002 (GRCm39) missense probably damaging 1.00
R6033:Prss36 UTSW 7 127,533,739 (GRCm39) missense probably benign 0.07
R6033:Prss36 UTSW 7 127,533,739 (GRCm39) missense probably benign 0.07
R6971:Prss36 UTSW 7 127,544,410 (GRCm39) missense probably benign 0.15
R7050:Prss36 UTSW 7 127,543,937 (GRCm39) missense possibly damaging 0.71
R7232:Prss36 UTSW 7 127,534,763 (GRCm39) missense probably benign 0.07
R7271:Prss36 UTSW 7 127,543,877 (GRCm39) missense probably benign 0.10
R8679:Prss36 UTSW 7 127,532,635 (GRCm39) missense possibly damaging 0.89
R9232:Prss36 UTSW 7 127,543,988 (GRCm39) missense probably benign
R9327:Prss36 UTSW 7 127,532,570 (GRCm39) nonsense probably null
R9356:Prss36 UTSW 7 127,545,697 (GRCm39) start gained probably benign
R9433:Prss36 UTSW 7 127,533,339 (GRCm39) missense probably benign 0.01
R9471:Prss36 UTSW 7 127,545,605 (GRCm39) missense probably benign 0.01
R9577:Prss36 UTSW 7 127,533,673 (GRCm39) missense probably benign 0.45
Z1088:Prss36 UTSW 7 127,533,709 (GRCm39) nonsense probably null
Z1177:Prss36 UTSW 7 127,533,005 (GRCm39) critical splice acceptor site probably null
Posted On 2013-11-18