Incidental Mutation 'R9041:Tmprss3'
ID 687754
Institutional Source Beutler Lab
Gene Symbol Tmprss3
Ensembl Gene ENSMUSG00000024034
Gene Name transmembrane protease, serine 3
Synonyms
MMRRC Submission 068868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R9041 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 31398239-31417951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31410014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 200 (D200V)
Ref Sequence ENSEMBL: ENSMUSP00000110196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024833] [ENSMUST00000114549]
AlphaFold Q8K1T0
Predicted Effect probably benign
Transcript: ENSMUST00000024833
AA Change: D178V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034
AA Change: D178V

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 benign
Transcript: ENSMUST00000114549
AA Change: D200V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034
AA Change: D200V

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
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (60/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,062,054 (GRCm39) I168T probably benign Het
Acvr2b G T 9: 119,257,052 (GRCm39) E94* probably null Het
Adcy8 A T 15: 64,609,287 (GRCm39) I874N probably benign Het
Ahcyl T G 16: 45,974,468 (GRCm39) D303A possibly damaging Het
Angptl1 G T 1: 156,685,999 (GRCm39) D362Y probably damaging Het
Arc A G 15: 74,543,896 (GRCm39) V109A probably damaging Het
Asphd2 T A 5: 112,539,768 (GRCm39) T22S probably benign Het
Caprin2 A T 6: 148,771,030 (GRCm39) N321K probably benign Het
Carmil1 T C 13: 24,282,793 (GRCm39) D547G possibly damaging Het
Cd38 G A 5: 44,058,899 (GRCm39) probably null Het
Cd3g A G 9: 44,884,818 (GRCm39) V142A possibly damaging Het
Chrna6 A T 8: 27,896,923 (GRCm39) I318N probably damaging Het
Cmah T C 13: 24,641,004 (GRCm39) probably null Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cplx4 T C 18: 66,103,097 (GRCm39) M8V probably damaging Het
Dnajc19 T C 3: 34,134,282 (GRCm39) K27R probably damaging Het
E2f3 C A 13: 30,093,939 (GRCm39) D441Y probably damaging Het
Erap1 A G 13: 74,822,818 (GRCm39) K777R probably benign Het
Fastkd1 C T 2: 69,532,715 (GRCm39) V551I probably benign Het
Fgd5 A G 6: 91,964,427 (GRCm39) E220G probably benign Het
Gal3st2 T C 1: 93,800,206 (GRCm39) V19A possibly damaging Het
Ghr T C 15: 3,357,530 (GRCm39) E246G probably benign Het
Gm10228 A T 16: 88,838,113 (GRCm39) Y64N unknown Het
Gsdmc4 T C 15: 63,774,586 (GRCm39) N65S probably benign Het
Heatr5b C A 17: 79,103,861 (GRCm39) A1105S probably benign Het
Hipk2 A T 6: 38,724,909 (GRCm39) L376* probably null Het
Il6st A G 13: 112,611,631 (GRCm39) T18A probably benign Het
Kif3b T C 2: 153,159,468 (GRCm39) I423T probably benign Het
Klf17 T C 4: 117,617,556 (GRCm39) Y267C probably damaging Het
Kntc1 A G 5: 123,927,093 (GRCm39) T1183A probably benign Het
Lrrc71 A G 3: 87,650,660 (GRCm39) S201P probably damaging Het
Mrgprb5 A T 7: 47,818,509 (GRCm39) D75E probably damaging Het
Myef2l T C 3: 10,157,353 (GRCm39) *499Q probably null Het
Myf6 A G 10: 107,329,225 (GRCm39) V240A probably benign Het
Ncoa6 T C 2: 155,257,450 (GRCm39) M698V possibly damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nynrin T C 14: 56,108,753 (GRCm39) S1287P possibly damaging Het
Or10ab5 A G 7: 108,245,589 (GRCm39) S65P probably damaging Het
Otud4 T A 8: 80,400,441 (GRCm39) S1052T probably damaging Het
Pcsk5 A T 19: 17,538,132 (GRCm39) C898* probably null Het
Pdcd1 T C 1: 93,969,091 (GRCm39) T76A probably benign Het
Plin2 T A 4: 86,578,504 (GRCm39) M198L probably benign Het
Prmt7 T A 8: 106,963,460 (GRCm39) V180D possibly damaging Het
R3hdm2 T C 10: 127,320,405 (GRCm39) Y549H probably damaging Het
Rad54l2 A G 9: 106,600,018 (GRCm39) S80P possibly damaging Het
Ryr3 T A 2: 112,787,546 (GRCm39) E235D probably damaging Het
Scart1 T C 7: 139,808,503 (GRCm39) C805R probably damaging Het
Serpina9 A T 12: 103,967,737 (GRCm39) S219R Het
Sesn2 G A 4: 132,225,272 (GRCm39) T298I probably benign Het
Sf3b2 A T 19: 5,324,872 (GRCm39) V838E possibly damaging Het
Sfpq C A 4: 126,915,296 (GRCm39) H29Q unknown Het
Smchd1 A G 17: 71,701,710 (GRCm39) probably null Het
Sprr1b A G 3: 92,344,477 (GRCm39) V133A probably benign Het
Srgap3 T C 6: 112,754,054 (GRCm39) Y243C probably damaging Het
Thop1 C T 10: 80,917,228 (GRCm39) A577V possibly damaging Het
Treh A T 9: 44,596,677 (GRCm39) K512M probably damaging Het
Trip11 A G 12: 101,845,127 (GRCm39) V1537A probably benign Het
Trp63 A G 16: 25,582,083 (GRCm39) T44A probably benign Het
Vmn1r225 T A 17: 20,722,577 (GRCm39) M6K possibly damaging Het
Vmn2r90 A C 17: 17,954,286 (GRCm39) M817L probably benign Het
Zfp68 A T 5: 138,604,699 (GRCm39) Y541* probably null 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
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'- TGAACCAGACTTTCCAGGGC -3'
(R):5'- TCCCCATAGCTTGTAACCTGG -3'

Sequencing Primer
(F):5'- TGCACCCCAGATTATGCACG -3'
(R):5'- CCCATAGCTTGTAACCTGGTGAGTAG -3'
Posted On 2021-11-19