Incidental Mutation 'R9388:Tmprss3'
ID 710456
Institutional Source Beutler Lab
Gene Symbol Tmprss3
Ensembl Gene ENSMUSG00000024034
Gene Name transmembrane protease, serine 3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R9388 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 31398239-31417951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31410041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 191 (F191S)
Ref Sequence ENSEMBL: ENSMUSP00000110196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024833] [ENSMUST00000114549]
AlphaFold Q8K1T0
Predicted Effect probably damaging
Transcript: ENSMUST00000024833
AA Change: F169S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034
AA Change: F169S

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 probably damaging
Transcript: ENSMUST00000114549
AA Change: F191S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034
AA Change: F191S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,338,714 (GRCm39) T433S probably benign Het
Abca14 A G 7: 119,882,261 (GRCm39) D1141G probably benign Het
Abca17 A G 17: 24,483,273 (GRCm39) S1728P unknown Het
Adam29 A C 8: 56,325,285 (GRCm39) C390G probably damaging Het
Angptl4 G A 17: 33,996,158 (GRCm39) R273* probably null Het
Arfgef3 T C 10: 18,505,877 (GRCm39) N929S probably benign Het
Baiap3 A G 17: 25,466,109 (GRCm39) probably null Het
Btla T C 16: 45,059,454 (GRCm39) S53P probably damaging Het
Cand1 A G 10: 119,047,213 (GRCm39) F759S possibly damaging Het
Cbll1 T C 12: 31,541,567 (GRCm39) T104A probably benign Het
Chd7 A G 4: 8,865,756 (GRCm39) M2688V possibly damaging Het
Cnot3 C A 7: 3,661,367 (GRCm39) H625Q possibly damaging Het
Dbn1 T C 13: 55,624,088 (GRCm39) I381V probably benign Het
Dennd2d T A 3: 106,395,915 (GRCm39) N135K possibly damaging Het
Dnah7c T C 1: 46,779,886 (GRCm39) I3196T probably damaging Het
Dock2 C A 11: 34,212,460 (GRCm39) R1227L possibly damaging Het
Esr1 A G 10: 4,919,179 (GRCm39) E423G probably benign Het
Ganab A G 19: 8,892,302 (GRCm39) Q826R probably damaging Het
Herc4 T A 10: 63,143,522 (GRCm39) M684K probably benign Het
Hipk2 A G 6: 38,707,956 (GRCm39) L613P probably damaging Het
Hpf1 A T 8: 61,353,182 (GRCm39) I188L probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Il4 C T 11: 53,504,837 (GRCm39) R76H probably damaging Het
Kif1a C A 1: 93,000,029 (GRCm39) probably null Het
Kng1 A T 16: 22,898,388 (GRCm39) Y596F possibly damaging Het
Lrrc8d T A 5: 105,961,862 (GRCm39) H757Q probably damaging Het
Med24 A T 11: 98,600,893 (GRCm39) I600N possibly damaging Het
Mmp10 G A 9: 7,504,170 (GRCm39) W203* probably null Het
Mnt C T 11: 74,727,450 (GRCm39) A112V probably benign Het
Myh7b A T 2: 155,472,983 (GRCm39) N1415Y probably benign Het
Nipal1 T A 5: 72,825,557 (GRCm39) *417R probably null Het
Nlrp4c C T 7: 6,069,874 (GRCm39) Q592* probably null Het
Obscn T C 11: 58,943,489 (GRCm39) E4220G probably damaging Het
Or10al7 C T 17: 38,366,148 (GRCm39) C103Y probably damaging Het
Or13a23-ps1 G T 7: 140,118,928 (GRCm39) C166F unknown Het
Or2w1b T C 13: 21,300,774 (GRCm39) L304P probably damaging Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pcdhb20 A T 18: 37,638,853 (GRCm39) I460F probably benign Het
Prb1b T C 6: 132,289,437 (GRCm39) Q129R unknown Het
Primpol G A 8: 47,034,605 (GRCm39) T441I possibly damaging Het
Ptprc A G 1: 138,011,380 (GRCm39) V583A possibly damaging Het
Rfx6 T C 10: 51,554,117 (GRCm39) V71A possibly damaging Het
Rgsl1 T C 1: 153,693,355 (GRCm39) I574V probably benign Het
Rims3 A G 4: 120,748,552 (GRCm39) I258V possibly damaging Het
Sec16b T C 1: 157,388,393 (GRCm39) Y776H probably benign Het
Skint6 C T 4: 113,049,838 (GRCm39) D276N possibly damaging Het
Slc45a1 T C 4: 150,727,067 (GRCm39) D184G probably damaging Het
St6galnac4 A T 2: 32,479,625 (GRCm39) S61C probably damaging Het
Stab1 C T 14: 30,876,312 (GRCm39) V926M probably damaging Het
Stat1 A T 1: 52,193,037 (GRCm39) K642N possibly damaging Het
Ube2o T C 11: 116,430,210 (GRCm39) D1176G possibly damaging Het
Usp17ld G T 7: 102,900,145 (GRCm39) N262K probably benign Het
Xpnpep1 T C 19: 52,993,233 (GRCm39) K365E probably damaging 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
R6077:Tmprss3 UTSW 17 31,408,141 (GRCm39) missense possibly damaging 0.94
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
Predicted Primers PCR Primer
(F):5'- CTCTGCTTGTAGAGGTGACG -3'
(R):5'- AAGCTGGAACACCTGGCTAAG -3'

Sequencing Primer
(F):5'- GTAGAGGTGACGTTCTTTCCCC -3'
(R):5'- TATCAGGAAAATGATGCCTCTGGTG -3'
Posted On 2022-04-18