Incidental Mutation 'PIT4480001:Tmprss2'
ID 554890
Institutional Source Beutler Lab
Gene Symbol Tmprss2
Ensembl Gene ENSMUSG00000000385
Gene Name transmembrane protease, serine 2
Synonyms D16Ertd61e, epitheliasin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4480001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 97365882-97412395 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97400460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 4 (N4D)
Ref Sequence ENSEMBL: ENSMUSP00000000395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000395] [ENSMUST00000232141]
AlphaFold Q9JIQ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000000395
AA Change: N4D

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000000395
Gene: ENSMUSG00000000385
AA Change: N4D

DomainStartEndE-ValueType
transmembrane domain 86 108 N/A INTRINSIC
LDLa 111 149 1e-9 SMART
SR 148 241 8.55e-10 SMART
Tryp_SPc 253 482 4.58e-92 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000232141
AA Change: N4D

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.7%
  • 10x: 83.8%
  • 20x: 69.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 G A 19: 4,917,605 (GRCm39) Q413* probably null Het
Ahnak2 C T 12: 112,740,358 (GRCm39) S1238N possibly damaging Het
Arsk T C 13: 76,210,484 (GRCm39) E521G probably damaging Het
Baiap2 A G 11: 119,887,913 (GRCm39) T356A probably benign Het
Baz1b G A 5: 135,246,819 (GRCm39) R756H probably damaging Het
Celsr1 G A 15: 85,916,615 (GRCm39) P453S probably damaging Het
Cep41 G A 6: 30,658,412 (GRCm39) P196S probably damaging Het
Cln5 T A 14: 103,309,214 (GRCm39) Y89* probably null Het
Cntnap3 A G 13: 64,905,024 (GRCm39) F919S probably damaging Het
Cntrl C T 2: 35,045,440 (GRCm39) H1383Y probably damaging Het
Cobl A G 11: 12,203,592 (GRCm39) S1037P probably benign Het
Col17a1 A T 19: 47,659,813 (GRCm39) S380T probably benign Het
Cyrib G A 15: 63,828,490 (GRCm39) T11I probably benign Het
Dagla A T 19: 10,238,022 (GRCm39) S323T probably benign Het
Dicer1 G T 12: 104,662,803 (GRCm39) Q1593K probably benign Het
Dnah6 T C 6: 73,078,863 (GRCm39) I2367V probably benign Het
Emc1 T C 4: 139,086,588 (GRCm39) S184P possibly damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Erbb4 A T 1: 68,114,702 (GRCm39) M914K probably damaging Het
Eva1a A G 6: 82,068,784 (GRCm39) E37G probably damaging Het
Fyco1 G T 9: 123,657,715 (GRCm39) Y820* probably null Het
Gipr T C 7: 18,896,859 (GRCm39) Y137C probably damaging Het
Gm5414 A G 15: 101,536,181 (GRCm39) V148A probably damaging Het
Gpn1 T C 5: 31,654,685 (GRCm39) V79A probably damaging Het
Grk2 G A 19: 4,337,437 (GRCm39) R617C possibly damaging Het
Inpp4b A C 8: 82,772,896 (GRCm39) E730A probably damaging Het
Inpp5f C T 7: 128,286,858 (GRCm39) T579I probably benign Het
Kif15 A T 9: 122,840,608 (GRCm39) M1201L probably benign Het
Ltbp3 A G 19: 5,801,254 (GRCm39) N631S possibly damaging Het
Mdh1 G A 11: 21,508,538 (GRCm39) S268L probably damaging Het
Mgat4e T A 1: 134,469,103 (GRCm39) T314S possibly damaging Het
Nsd1 A G 13: 55,361,731 (GRCm39) Q233R probably benign Het
Or11g1 T C 14: 50,651,372 (GRCm39) F124L probably benign Het
Or5w17 T C 2: 87,584,127 (GRCm39) D70G possibly damaging Het
Paqr5 T A 9: 61,863,438 (GRCm39) I295L probably benign Het
Peg10 C T 6: 4,756,560 (GRCm39) H379Y unknown Het
Phtf2 A T 5: 21,018,242 (GRCm39) I33N probably damaging Het
Plcb2 T C 2: 118,553,977 (GRCm39) M115V probably benign Het
Ppp2r3d A G 9: 101,003,576 (GRCm39) Y431H possibly damaging Het
Prph2 GT G 17: 47,222,039 (GRCm39) probably null Het
Psmd1 C T 1: 86,055,960 (GRCm39) P774L probably damaging Het
Ranbp17 A T 11: 33,247,340 (GRCm39) probably null Het
Rptn A G 3: 93,304,977 (GRCm39) D770G possibly damaging Het
Serac1 A G 17: 6,101,087 (GRCm39) L439P probably damaging Het
Slitrk6 TTTTAGTCTGTTCTACCAACACCTT TTT 14: 110,987,257 (GRCm39) probably null Het
Sox6 T C 7: 115,196,744 (GRCm39) I295M probably benign Het
Spata31h1 T C 10: 82,119,586 (GRCm39) M4475V probably benign Het
Sulf1 T A 1: 12,929,637 (GRCm39) D301E probably benign Het
Tas2r117 G A 6: 132,780,014 (GRCm39) V51I possibly damaging Het
Tbx2 C T 11: 85,725,561 (GRCm39) R171C probably damaging Het
Tgfbr1 A G 4: 47,402,955 (GRCm39) I320V probably benign Het
Tjp3 C A 10: 81,115,091 (GRCm39) G396W probably damaging Het
Tnfaip3 T C 10: 18,883,071 (GRCm39) N165D probably benign Het
Tnfrsf21 A T 17: 43,348,802 (GRCm39) Y138F probably benign Het
Utp4 T C 8: 107,632,817 (GRCm39) S267P probably benign Het
Wnk1 A T 6: 119,940,328 (GRCm39) L803* probably null Het
Zbbx T A 3: 75,043,794 (GRCm39) D35V probably damaging Het
Zscan12 T G 13: 21,552,744 (GRCm39) N189K possibly damaging Het
Other mutations in Tmprss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Tmprss2 APN 16 97,379,795 (GRCm39) nonsense probably null
IGL02130:Tmprss2 APN 16 97,392,089 (GRCm39) missense probably damaging 1.00
IGL02149:Tmprss2 APN 16 97,400,479 (GRCm39) utr 5 prime probably benign
IGL03080:Tmprss2 APN 16 97,398,044 (GRCm39) missense probably damaging 0.98
R0395:Tmprss2 UTSW 16 97,368,245 (GRCm39) missense probably damaging 1.00
R0485:Tmprss2 UTSW 16 97,373,194 (GRCm39) unclassified probably benign
R1055:Tmprss2 UTSW 16 97,377,462 (GRCm39) missense probably damaging 1.00
R1080:Tmprss2 UTSW 16 97,392,698 (GRCm39) missense probably benign
R1405:Tmprss2 UTSW 16 97,398,005 (GRCm39) missense probably benign 0.00
R1405:Tmprss2 UTSW 16 97,398,005 (GRCm39) missense probably benign 0.00
R1930:Tmprss2 UTSW 16 97,370,262 (GRCm39) missense probably benign 0.17
R1931:Tmprss2 UTSW 16 97,370,262 (GRCm39) missense probably benign 0.17
R1955:Tmprss2 UTSW 16 97,368,377 (GRCm39) critical splice acceptor site probably null
R2443:Tmprss2 UTSW 16 97,369,703 (GRCm39) missense possibly damaging 0.65
R3825:Tmprss2 UTSW 16 97,398,021 (GRCm39) missense probably damaging 1.00
R4508:Tmprss2 UTSW 16 97,371,627 (GRCm39) missense probably damaging 1.00
R5212:Tmprss2 UTSW 16 97,377,492 (GRCm39) missense probably benign 0.00
R5571:Tmprss2 UTSW 16 97,392,071 (GRCm39) missense probably null 1.00
R5715:Tmprss2 UTSW 16 97,370,183 (GRCm39) missense possibly damaging 0.65
R6816:Tmprss2 UTSW 16 97,369,667 (GRCm39) missense possibly damaging 0.94
R6921:Tmprss2 UTSW 16 97,369,637 (GRCm39) missense probably damaging 0.98
R7230:Tmprss2 UTSW 16 97,379,797 (GRCm39) missense probably benign 0.02
R7311:Tmprss2 UTSW 16 97,369,616 (GRCm39) missense possibly damaging 0.94
R7788:Tmprss2 UTSW 16 97,377,429 (GRCm39) nonsense probably null
R8052:Tmprss2 UTSW 16 97,369,616 (GRCm39) missense probably damaging 1.00
R8329:Tmprss2 UTSW 16 97,369,665 (GRCm39) missense probably benign 0.01
R8511:Tmprss2 UTSW 16 97,369,662 (GRCm39) missense possibly damaging 0.94
R9234:Tmprss2 UTSW 16 97,379,821 (GRCm39) missense probably damaging 1.00
R9314:Tmprss2 UTSW 16 97,400,459 (GRCm39) missense probably benign 0.38
R9456:Tmprss2 UTSW 16 97,392,669 (GRCm39) missense probably benign
R9629:Tmprss2 UTSW 16 97,369,702 (GRCm39) missense probably benign 0.00
R9680:Tmprss2 UTSW 16 97,379,826 (GRCm39) missense probably damaging 1.00
Z1176:Tmprss2 UTSW 16 97,368,257 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAGTGTACCAATCCCAGCTTC -3'
(R):5'- ACCATCTGCAATGACCCAGG -3'

Sequencing Primer
(F):5'- TCCAACATAACCGGGGGTTTG -3'
(R):5'- TCTGCAATGACCCAGGGAGTG -3'
Posted On 2019-06-07