Incidental Mutation 'R6077:Tmprss3'
ID 482817
Institutional Source Beutler Lab
Gene Symbol Tmprss3
Ensembl Gene ENSMUSG00000024034
Gene Name transmembrane protease, serine 3
Synonyms
MMRRC Submission 044238-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6077 (G1)
Quality Score 138.008
Status Not validated
Chromosome 17
Chromosomal Location 31398239-31417951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31408141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 274 (I274F)
Ref Sequence ENSEMBL: ENSMUSP00000110196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024833] [ENSMUST00000114549]
AlphaFold Q8K1T0
Predicted Effect possibly damaging
Transcript: ENSMUST00000024833
AA Change: I252F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034
AA Change: I252F

DomainStartEndE-ValueType
transmembrane domain 49 71 N/A INTRINSIC
LDLa 72 109 1.76e-5 SMART
SR 108 205 3.99e-4 SMART
Tryp_SPc 216 443 5.22e-96 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114549
AA Change: I274F

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034
AA Change: I274F

DomainStartEndE-ValueType
transmembrane domain 70 92 N/A INTRINSIC
LDLa 94 131 1.76e-5 SMART
SR 130 227 3.99e-4 SMART
Tryp_SPc 238 465 5.22e-96 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
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 serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit early onset deafness and disrupted vestibular function associated with hair cell degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C T 11: 100,410,583 (GRCm39) V132I probably benign Het
Adgrb3 A T 1: 25,133,081 (GRCm39) L1335* probably null Het
Adgre5 A G 8: 84,454,595 (GRCm39) S301P probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aldh1b1 A G 4: 45,802,525 (GRCm39) Y21C possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankrd7 T A 6: 18,868,071 (GRCm39) S112R probably benign Het
Arhgap23 T A 11: 97,382,058 (GRCm39) probably null Het
Atp4a G A 7: 30,415,344 (GRCm39) M321I probably benign Het
C2cd4d A T 3: 94,271,615 (GRCm39) R294W probably damaging Het
Carns1 T C 19: 4,220,875 (GRCm39) I352V probably benign Het
Cdh17 T A 4: 11,803,969 (GRCm39) S547R probably benign Het
Cdyl2 G T 8: 117,316,129 (GRCm39) N286K probably damaging Het
Fam186a C A 15: 99,840,584 (GRCm39) V1887L possibly damaging Het
Fat4 C T 3: 39,056,951 (GRCm39) R4216C probably damaging Het
Fcamr T C 1: 130,740,663 (GRCm39) W361R probably damaging Het
Helz2 G A 2: 180,874,831 (GRCm39) P1888S probably benign Het
Itih1 A T 14: 30,651,833 (GRCm39) F840L possibly damaging Het
Kansl2 T C 15: 98,429,312 (GRCm39) D146G probably benign Het
Kcnk18 T C 19: 59,223,746 (GRCm39) V297A probably damaging Het
Kif1a T C 1: 92,982,618 (GRCm39) T720A possibly damaging Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Large2 C T 2: 92,196,915 (GRCm39) R423K probably benign Het
Lgals3bp A G 11: 118,290,568 (GRCm39) V13A probably damaging Het
Lrrd1 A G 5: 3,900,837 (GRCm39) I381V probably benign Het
Mastl A T 2: 23,045,806 (GRCm39) I23N probably damaging Het
Mettl23 T C 11: 116,739,728 (GRCm39) V1A possibly damaging Het
Mindy2 A G 9: 70,538,363 (GRCm39) V324A probably damaging Het
Mtmr4 T A 11: 87,501,845 (GRCm39) L633Q probably damaging Het
Myh1 G A 11: 67,102,273 (GRCm39) E855K probably damaging Het
Nin C T 12: 70,066,006 (GRCm39) A2026T probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Or2w1 A T 13: 21,317,463 (GRCm39) I173F probably benign Het
Otulin T C 15: 27,611,696 (GRCm39) T166A probably benign Het
P2ry14 T A 3: 59,022,798 (GRCm39) R230W probably damaging Het
Pcsk4 T C 10: 80,162,073 (GRCm39) E83G probably damaging Het
Raet1e C A 10: 22,057,887 (GRCm39) T218N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Safb G A 17: 56,909,956 (GRCm39) probably benign Het
Scn7a T A 2: 66,527,940 (GRCm39) N850I probably damaging Het
Slc16a4 A G 3: 107,208,381 (GRCm39) D297G possibly damaging Het
Tcf7l2 A T 19: 55,905,868 (GRCm39) K278* probably null Het
Tesmin T C 19: 3,439,260 (GRCm39) V104A possibly damaging Het
Tiam1 A G 16: 89,594,918 (GRCm39) probably null Het
Tmc4 T C 7: 3,670,526 (GRCm39) T522A probably damaging Het
Topbp1 A G 9: 103,210,189 (GRCm39) K916E probably damaging Het
Trdv1 A G 14: 54,119,513 (GRCm39) D58G probably benign Het
Ube2g2 G T 10: 77,458,139 (GRCm39) probably benign Het
Unc5d G T 8: 29,165,335 (GRCm39) Q747K possibly damaging Het
Xpo6 A G 7: 125,709,124 (GRCm39) V819A possibly damaging Het
Zan T A 5: 137,412,559 (GRCm39) probably benign Het
Zfp317 T A 9: 19,558,184 (GRCm39) W133R probably benign Het
Other mutations in Tmprss3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Tmprss3 APN 17 31,413,982 (GRCm39) missense probably damaging 0.97
IGL01836:Tmprss3 APN 17 31,410,018 (GRCm39) missense probably benign
IGL02525:Tmprss3 APN 17 31,413,865 (GRCm39) splice site probably benign
IGL02672:Tmprss3 APN 17 31,409,981 (GRCm39) missense probably damaging 1.00
IGL02900:Tmprss3 APN 17 31,403,553 (GRCm39) missense probably damaging 1.00
R0122:Tmprss3 UTSW 17 31,412,876 (GRCm39) splice site probably benign
R0617:Tmprss3 UTSW 17 31,412,886 (GRCm39) missense probably damaging 1.00
R4001:Tmprss3 UTSW 17 31,405,533 (GRCm39) missense probably damaging 1.00
R5587:Tmprss3 UTSW 17 31,412,966 (GRCm39) missense probably benign 0.00
R6271:Tmprss3 UTSW 17 31,405,536 (GRCm39) missense probably damaging 1.00
R6329:Tmprss3 UTSW 17 31,402,833 (GRCm39) nonsense probably null
R6918:Tmprss3 UTSW 17 31,407,331 (GRCm39) missense probably benign 0.19
R8279:Tmprss3 UTSW 17 31,416,709 (GRCm39) missense probably benign 0.20
R8372:Tmprss3 UTSW 17 31,403,671 (GRCm39) missense probably benign 0.00
R8427:Tmprss3 UTSW 17 31,407,358 (GRCm39) missense probably damaging 0.99
R8443:Tmprss3 UTSW 17 31,413,976 (GRCm39) missense possibly damaging 0.81
R9041:Tmprss3 UTSW 17 31,410,014 (GRCm39) missense probably benign 0.02
R9315:Tmprss3 UTSW 17 31,403,644 (GRCm39) missense probably null 0.46
R9388:Tmprss3 UTSW 17 31,410,041 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACTCTCAGACGCAGAGAC -3'
(R):5'- GTAGGGCACAGGGATTTTGC -3'

Sequencing Primer
(F):5'- CAGATCCACTGTAAGGCACATGG -3'
(R):5'- GGGTGCTGACATTTCCTCCAG -3'
Posted On 2017-07-14