Incidental Mutation 'R6033:Prss36'
ID 486388
Institutional Source Beutler Lab
Gene Symbol Prss36
Ensembl Gene ENSMUSG00000070371
Gene Name serine protease 36
Synonyms C330007D15Rik, polyserase-2
MMRRC Submission 044205-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6033 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127531810-127545897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127533739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 22 (R22G)
Ref Sequence ENSEMBL: ENSMUSP00000121706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032988] [ENSMUST00000094026] [ENSMUST00000118755] [ENSMUST00000141385] [ENSMUST00000156152] [ENSMUST00000206124] [ENSMUST00000206568]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032988
SMART Domains Protein: ENSMUSP00000032988
Gene: ENSMUSG00000030800

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Tryp_SPc 44 281 3.55e-98 SMART
low complexity region 320 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094026
AA Change: R534G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371
AA Change: R534G

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 benign
Transcript: ENSMUST00000118755
AA Change: R523G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371
AA Change: R523G

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
Predicted Effect probably benign
Transcript: ENSMUST00000141385
AA Change: R22G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000120544
Gene: ENSMUSG00000070371
AA Change: R22G

DomainStartEndE-ValueType
Blast:Tryp_SPc 38 121 3e-44 BLAST
SCOP:d1eaxa_ 45 126 7e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150591
SMART Domains Protein: ENSMUSP00000121532
Gene: ENSMUSG00000070371

DomainStartEndE-ValueType
Tryp_SPc 15 194 6.48e-2 SMART
Blast:Tryp_SPc 231 311 4e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000156152
AA Change: R22G

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121706
Gene: ENSMUSG00000070371
AA Change: R22G

DomainStartEndE-ValueType
Blast:Tryp_SPc 2 44 1e-21 BLAST
Tryp_SPc 89 238 8.18e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152697
Predicted Effect probably benign
Transcript: ENSMUST00000206568
Meta Mutation Damage Score 0.5850 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T A 8: 84,645,551 (GRCm39) V58E probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alas1 A G 9: 106,118,403 (GRCm39) S240P probably damaging Het
Alox12e C T 11: 70,206,839 (GRCm39) G616D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Ccdc150 G T 1: 54,324,787 (GRCm39) probably null Het
Chct1 A G 11: 85,069,198 (GRCm39) E72G probably damaging Het
Cmtm8 T C 9: 114,625,141 (GRCm39) T97A probably damaging Het
Cnmd T C 14: 79,898,945 (GRCm39) S36G probably benign Het
Dnah3 A C 7: 119,670,870 (GRCm39) N609K probably benign Het
Dph1 C T 11: 75,082,023 (GRCm39) probably benign Het
Drosha G A 15: 12,926,085 (GRCm39) A1225T probably benign Het
Eid3 T A 10: 82,703,487 (GRCm39) I316K probably damaging Het
Erich6 A G 3: 58,530,622 (GRCm39) L449S probably benign Het
Fhod1 T C 8: 106,063,066 (GRCm39) probably benign Het
Glra1 A G 11: 55,418,245 (GRCm39) Y250H probably damaging Het
Gm21972 T C 1: 86,064,817 (GRCm39) Y950H probably damaging Het
Gm6712 T A 17: 17,514,678 (GRCm39) noncoding transcript Het
Grb7 C T 11: 98,346,023 (GRCm39) probably null Het
Hivep1 A G 13: 42,310,583 (GRCm39) E941G probably benign Het
Homer2 A C 7: 81,268,427 (GRCm39) S78A possibly damaging Het
Ica1 T A 6: 8,630,799 (GRCm39) probably null Het
Ifna12 T C 4: 88,521,154 (GRCm39) E131G possibly damaging Het
Igbp1b T C 6: 138,635,207 (GRCm39) Y79C probably damaging Het
Incenp C T 19: 9,850,061 (GRCm39) V871I probably damaging Het
Jaml G A 9: 45,000,008 (GRCm39) G60D probably damaging Het
Kcp C T 6: 29,493,193 (GRCm39) C110Y probably damaging Het
Manba T C 3: 135,255,022 (GRCm39) V460A probably benign Het
Myrfl A T 10: 116,685,006 (GRCm39) C125S probably benign Het
Ncan T C 8: 70,565,240 (GRCm39) D229G probably damaging Het
Ncoa4-ps A G 12: 119,225,475 (GRCm39) noncoding transcript Het
Nlrp10 A T 7: 108,523,784 (GRCm39) D565E probably benign Het
Npas2 T C 1: 39,377,261 (GRCm39) V541A probably damaging Het
Nsg2 G A 11: 32,005,058 (GRCm39) V87M possibly damaging Het
Or5al6 A T 2: 85,976,613 (GRCm39) V155E probably damaging Het
Prkd2 C T 7: 16,599,639 (GRCm39) R701C probably damaging Het
Prr3 A T 17: 36,289,516 (GRCm39) probably null Het
Prr5 A G 15: 84,626,126 (GRCm39) E67G probably damaging Het
Slc45a4 G A 15: 73,453,825 (GRCm39) A716V probably damaging Het
Slc46a1 T C 11: 78,356,833 (GRCm39) probably null Het
Slc6a5 T C 7: 49,609,099 (GRCm39) I768T probably benign Het
Slco6c1 C T 1: 97,009,041 (GRCm39) probably null Het
Taar2 A T 10: 23,816,874 (GRCm39) H138L probably benign Het
Taf2 A C 15: 54,922,297 (GRCm39) L330R probably damaging Het
Tgm5 T C 2: 120,901,210 (GRCm39) probably null Het
Tmed4 A T 11: 6,224,491 (GRCm39) Y56* probably null Het
Tmem156 A T 5: 65,232,964 (GRCm39) F135L probably benign Het
Ttll6 T C 11: 96,025,713 (GRCm39) S65P probably damaging Het
Ttn C T 2: 76,557,171 (GRCm39) G28199R probably damaging Het
Ubn2 T A 6: 38,447,159 (GRCm39) probably null Het
Unc80 A T 1: 66,512,419 (GRCm39) T110S possibly damaging Het
Vmn2r72 A T 7: 85,387,137 (GRCm39) V809E probably damaging Het
Zbtb2 A G 10: 4,318,599 (GRCm39) F476L probably damaging Het
Zbtb24 T C 10: 41,340,397 (GRCm39) F498L probably damaging Het
Zfp280d T A 9: 72,236,419 (GRCm39) L494Q probably damaging Het
Zfp281 T C 1: 136,554,464 (GRCm39) S481P probably benign Het
Other mutations in Prss36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Prss36 APN 7 127,544,099 (GRCm39) splice site probably benign
IGL01473:Prss36 APN 7 127,543,873 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- GCCAGGACCTAAGAATTACCAGG -3'
(R):5'- ACTGGAACTTGGCTTGAAGGG -3'

Sequencing Primer
(F):5'- TCACCACCGTGCTCAGTATGTG -3'
(R):5'- CTTGAAGGGTTCTTGCAGGAAAG -3'
Posted On 2017-08-16