Incidental Mutation 'R8329:Tmprss2'
ID 644285
Institutional Source Beutler Lab
Gene Symbol Tmprss2
Ensembl Gene ENSMUSG00000000385
Gene Name transmembrane protease, serine 2
Synonyms D16Ertd61e, epitheliasin
MMRRC Submission 067859-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8329 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 97365882-97412395 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97369665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 370 (M370L)
Ref Sequence ENSEMBL: ENSMUSP00000000395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000395]
AlphaFold Q9JIQ8
Predicted Effect probably benign
Transcript: ENSMUST00000000395
AA Change: M370L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000000395
Gene: ENSMUSG00000000385
AA Change: M370L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (62/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,461,978 (GRCm39) probably null Het
Ackr4 A G 9: 103,976,660 (GRCm39) F96L possibly damaging Het
Aco1 T C 4: 40,186,376 (GRCm39) I596T possibly damaging Het
Aff3 G A 1: 38,244,135 (GRCm39) R879W probably benign Het
Apob A G 12: 8,061,135 (GRCm39) R3206G probably damaging Het
Atg7 T A 6: 114,663,057 (GRCm39) D224E possibly damaging Het
Capn12 T C 7: 28,582,626 (GRCm39) F167S probably damaging Het
Ccdc3 T G 2: 5,233,848 (GRCm39) V224G probably damaging Het
Ces4a G A 8: 105,874,714 (GRCm39) V452I probably damaging Het
Cherp G A 8: 73,215,852 (GRCm39) R834C Het
Clptm1l T A 13: 73,760,547 (GRCm39) I310N probably damaging Het
Cog3 A T 14: 75,978,003 (GRCm39) D230E probably damaging Het
Crb1 T A 1: 139,165,005 (GRCm39) I1101F probably damaging Het
Cts6 A T 13: 61,343,282 (GRCm39) M313K probably damaging Het
Cyp2c66 T A 19: 39,174,906 (GRCm39) C435* probably null Het
Defb13 A G 8: 22,438,562 (GRCm39) E40G probably benign Het
Dis3l T C 9: 64,219,112 (GRCm39) D606G possibly damaging Het
Dop1b T C 16: 93,568,675 (GRCm39) L1579P probably damaging Het
Foxa3 A G 7: 18,748,109 (GRCm39) V339A probably benign Het
Gcn1 G A 5: 115,747,921 (GRCm39) G1776E probably damaging Het
Gls2 A G 10: 128,037,154 (GRCm39) T232A probably benign Het
Gprc6a A T 10: 51,503,355 (GRCm39) Y169* probably null Het
Guca2b T C 4: 119,516,001 (GRCm39) S18G unknown Het
Hars2 A G 18: 36,922,288 (GRCm39) D301G possibly damaging Het
Haus5 T A 7: 30,358,984 (GRCm39) Q226L possibly damaging Het
Hc G A 2: 34,902,910 (GRCm39) probably null Het
Hivep2 T C 10: 14,004,011 (GRCm39) V203A probably damaging Het
Hoxc8 A G 15: 102,899,543 (GRCm39) Y111C probably damaging Het
Hoxd13 G T 2: 74,498,661 (GRCm39) R3L probably benign Het
Hspa8 T G 9: 40,713,897 (GRCm39) I130S probably damaging Het
Ier5l C A 2: 30,362,861 (GRCm39) C388F possibly damaging Het
Ldc1 C T 4: 130,109,156 (GRCm39) V295M possibly damaging Het
Lmx1a A G 1: 167,517,372 (GRCm39) N10S probably benign Het
Map2 T C 1: 66,454,272 (GRCm39) I1054T probably benign Het
Me1 C T 9: 86,501,790 (GRCm39) D268N probably damaging Het
Muc6 G A 7: 141,226,525 (GRCm39) P1501S unknown Het
Myo1d T C 11: 80,528,900 (GRCm39) M641V probably benign Het
Nuggc G A 14: 65,878,731 (GRCm39) R667K probably benign Het
Oprl1 T A 2: 181,360,717 (GRCm39) C231S probably damaging Het
Or11g26 T C 14: 50,753,015 (GRCm39) F118S probably damaging Het
Or13p10 A C 4: 118,523,604 (GRCm39) N297H probably damaging Het
Pard3b C A 1: 62,676,957 (GRCm39) Q1163K probably benign Het
Pik3c2a T C 7: 116,017,283 (GRCm39) Y158C probably damaging Het
Prune2 T G 19: 17,098,629 (GRCm39) S1378A probably benign Het
Ralgps2 G T 1: 156,712,110 (GRCm39) T158K probably damaging Het
Rbm42 T A 7: 30,344,582 (GRCm39) E227V unknown Het
Ripor3 T C 2: 167,825,119 (GRCm39) R797G possibly damaging Het
Ryr3 T A 2: 112,492,855 (GRCm39) H3764L possibly damaging Het
Sbno2 T C 10: 79,900,221 (GRCm39) Y541C probably damaging Het
Scn5a A G 9: 119,365,030 (GRCm39) V396A probably damaging Het
Slc36a3 A G 11: 55,039,409 (GRCm39) L73P probably damaging Het
Spag16 T C 1: 69,934,407 (GRCm39) I278T probably benign Het
Stx18 T A 5: 38,285,450 (GRCm39) L274* probably null Het
Terb1 A T 8: 105,211,003 (GRCm39) N341K probably damaging Het
Timm29 A G 9: 21,505,001 (GRCm39) Y223C probably damaging Het
Tmtc3 T A 10: 100,283,296 (GRCm39) N753I probably damaging Het
Tnpo3 A T 6: 29,558,832 (GRCm39) C699* probably null Het
Trav5d-4 G A 14: 53,239,208 (GRCm39) W13* probably null Het
Trdn A G 10: 33,320,074 (GRCm39) probably null Het
Tsg101 A T 7: 46,558,808 (GRCm39) Y68N probably damaging Het
Ttn A G 2: 76,664,062 (GRCm39) V11649A unknown Het
Wnk2 A T 13: 49,248,914 (GRCm39) V379D probably damaging Het
Xpnpep1 A G 19: 52,990,903 (GRCm39) probably null Het
Yme1l1 C T 2: 23,054,597 (GRCm39) Q139* probably null 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
PIT4480001:Tmprss2 UTSW 16 97,400,460 (GRCm39) missense possibly damaging 0.77
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
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'- GCTCATGTAAATTGTCCAAAGCC -3'
(R):5'- CAGACACCTTTGGCTTTTAATGG -3'

Sequencing Primer
(F):5'- TGTAAATTGTCCAAAGCCAGAAAC -3'
(R):5'- TTAATGGTACGTGAGACTCAGCCC -3'
Posted On 2020-09-02