Incidental Mutation 'R1292:Prss16'
ID 150824
Institutional Source Beutler Lab
Gene Symbol Prss16
Ensembl Gene ENSMUSG00000006179
Gene Name serine protease 16 (thymus)
Synonyms TSSP
MMRRC Submission 039358-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1292 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 22186346-22193911 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 22193691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 35 (K35*)
Ref Sequence ENSEMBL: ENSMUSP00000006341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006341] [ENSMUST00000150547]
AlphaFold Q9QXE5
Predicted Effect probably null
Transcript: ENSMUST00000006341
AA Change: K35*
SMART Domains Protein: ENSMUSP00000006341
Gene: ENSMUSG00000006179
AA Change: K35*

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
low complexity region 40 53 N/A INTRINSIC
Pfam:Peptidase_S28 63 493 1.9e-157 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147811
Predicted Effect probably benign
Transcript: ENSMUST00000150547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223857
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (31/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable with no gross abnormalities and normal T cell development and activation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T A 9: 53,336,919 (GRCm39) D74E probably benign Het
Abcb1a A T 5: 8,763,343 (GRCm39) T624S probably benign Het
Atp8b1 T C 18: 64,704,092 (GRCm39) Y342C probably damaging Het
Clcnka A G 4: 141,122,903 (GRCm39) probably benign Het
Cma2 C T 14: 56,211,199 (GRCm39) R164C probably damaging Het
Cnga1 T C 5: 72,762,026 (GRCm39) D496G probably damaging Het
Ctbp2 T A 7: 132,616,918 (GRCm39) R6W probably damaging Het
Cyp3a11 T C 5: 145,802,804 (GRCm39) T230A probably benign Het
Defb40 A C 8: 19,028,080 (GRCm39) I18S probably benign Het
Fcgbpl1 A C 7: 27,842,219 (GRCm39) probably benign Het
Gm10036 T G 18: 15,966,368 (GRCm39) I173S possibly damaging Het
Herc2 A T 7: 55,846,951 (GRCm39) I3634L probably benign Het
Igfbp1 A G 11: 7,150,863 (GRCm39) N218S probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Kmt2a A T 9: 44,725,991 (GRCm39) probably benign Het
Ly9 T C 1: 171,416,671 (GRCm39) probably null Het
Mmut C A 17: 41,252,298 (GRCm39) A280E probably damaging Het
Or5k16 C T 16: 58,736,134 (GRCm39) R290K probably damaging Het
Or6k6 A G 1: 173,945,420 (GRCm39) F54S probably benign Het
Pcdhb13 T C 18: 37,576,885 (GRCm39) V421A probably benign Het
Pik3ca T A 3: 32,508,569 (GRCm39) L779Q probably damaging Het
Plxnd1 T C 6: 115,939,644 (GRCm39) probably benign Het
Rhbdl2 G A 4: 123,723,435 (GRCm39) A280T possibly damaging Het
Slc2a2 C T 3: 28,771,637 (GRCm39) T189I probably damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tacr1 A G 6: 82,531,856 (GRCm39) I251V probably damaging Het
Tln1 A G 4: 43,534,578 (GRCm39) probably null Het
Vdac3-ps1 T C 13: 18,205,880 (GRCm39) noncoding transcript Het
Zfp458 A T 13: 67,404,754 (GRCm39) C562S probably damaging Het
Other mutations in Prss16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02025:Prss16 APN 13 22,187,191 (GRCm39) missense probably damaging 0.99
IGL02272:Prss16 APN 13 22,187,205 (GRCm39) missense probably damaging 0.96
IGL02383:Prss16 APN 13 22,193,697 (GRCm39) missense probably benign 0.00
IGL02892:Prss16 APN 13 22,187,220 (GRCm39) missense probably benign 0.03
IGL03325:Prss16 APN 13 22,187,417 (GRCm39) missense possibly damaging 0.90
BB001:Prss16 UTSW 13 22,192,834 (GRCm39) missense probably damaging 0.99
BB011:Prss16 UTSW 13 22,192,834 (GRCm39) missense probably damaging 0.99
R0645:Prss16 UTSW 13 22,193,546 (GRCm39) unclassified probably benign
R0970:Prss16 UTSW 13 22,189,287 (GRCm39) missense probably damaging 1.00
R1146:Prss16 UTSW 13 22,191,138 (GRCm39) unclassified probably benign
R1371:Prss16 UTSW 13 22,192,856 (GRCm39) unclassified probably benign
R1525:Prss16 UTSW 13 22,193,613 (GRCm39) missense possibly damaging 0.50
R1624:Prss16 UTSW 13 22,187,483 (GRCm39) missense probably benign 0.31
R2233:Prss16 UTSW 13 22,193,579 (GRCm39) missense possibly damaging 0.70
R5147:Prss16 UTSW 13 22,190,264 (GRCm39) missense possibly damaging 0.70
R5670:Prss16 UTSW 13 22,187,221 (GRCm39) missense possibly damaging 0.74
R6440:Prss16 UTSW 13 22,187,330 (GRCm39) missense probably damaging 0.97
R6668:Prss16 UTSW 13 22,190,918 (GRCm39) missense probably null 0.01
R6791:Prss16 UTSW 13 22,190,237 (GRCm39) missense probably damaging 0.99
R7278:Prss16 UTSW 13 22,187,317 (GRCm39) missense probably damaging 1.00
R7924:Prss16 UTSW 13 22,192,834 (GRCm39) missense probably damaging 0.99
R8865:Prss16 UTSW 13 22,187,175 (GRCm39) missense possibly damaging 0.71
R8980:Prss16 UTSW 13 22,187,212 (GRCm39) missense probably benign 0.13
R9139:Prss16 UTSW 13 22,192,513 (GRCm39) missense probably damaging 1.00
R9211:Prss16 UTSW 13 22,192,754 (GRCm39) missense probably benign 0.19
R9276:Prss16 UTSW 13 22,190,175 (GRCm39) start gained probably benign
R9318:Prss16 UTSW 13 22,191,108 (GRCm39) missense possibly damaging 0.95
R9748:Prss16 UTSW 13 22,192,504 (GRCm39) missense possibly damaging 0.88
Z1176:Prss16 UTSW 13 22,190,570 (GRCm39) start gained probably benign
Z1176:Prss16 UTSW 13 22,190,224 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTGGGGTTACAGACTGACAAGAC -3'
(R):5'- GTTACTACTGACGCTGAACCTGCC -3'

Sequencing Primer
(F):5'- TTACAGACTGACAAGACAGTGC -3'
(R):5'- AGAGTGCCTGGAACACTTC -3'
Posted On 2014-01-29