Incidental Mutation 'IGL03107:Tmprss5'
ID 419032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss5
Ensembl Gene ENSMUSG00000032268
Gene Name transmembrane protease, serine 5 (spinesin)
Synonyms spinesin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03107
Quality Score
Status
Chromosome 9
Chromosomal Location 49013994-49028891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49024528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 281 (H281R)
Ref Sequence ENSEMBL: ENSMUSP00000129482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070390] [ENSMUST00000165088] [ENSMUST00000166272] [ENSMUST00000167095] [ENSMUST00000170246]
AlphaFold Q9ER04
Predicted Effect probably benign
Transcript: ENSMUST00000070390
AA Change: H287R

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268
AA Change: H287R

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Pfam:SRCR_2 106 203 4.2e-38 PFAM
Tryp_SPc 207 438 1.28e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165088
AA Change: H297R

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
AA Change: H297R

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:SRCR_2 116 213 2.9e-38 PFAM
Tryp_SPc 217 448 1.28e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166272
SMART Domains Protein: ENSMUSP00000130069
Gene: ENSMUSG00000032268

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167095
AA Change: H223R

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268
AA Change: H223R

DomainStartEndE-ValueType
Pfam:SRCR_2 42 139 1.1e-38 PFAM
Tryp_SPc 143 374 1.28e-90 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000170246
AA Change: H281R

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268
AA Change: H281R

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Pfam:SRCR_2 100 197 1.4e-38 PFAM
Tryp_SPc 201 432 1.28e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170426
SMART Domains Protein: ENSMUSP00000128662
Gene: ENSMUSG00000032268

DomainStartEndE-ValueType
Pfam:SRCR_2 7 84 3.4e-28 PFAM
Coding Region Coverage
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. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably damaging Het
Other mutations in Tmprss5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Tmprss5 APN 9 49,020,757 (GRCm39) makesense probably null
IGL02705:Tmprss5 APN 9 49,018,447 (GRCm39) missense probably benign 0.19
IGL03072:Tmprss5 APN 9 49,020,318 (GRCm39) missense possibly damaging 0.68
PIT4366001:Tmprss5 UTSW 9 49,023,517 (GRCm39) missense probably benign 0.24
R0207:Tmprss5 UTSW 9 49,024,460 (GRCm39) missense possibly damaging 0.88
R0477:Tmprss5 UTSW 9 49,026,465 (GRCm39) missense possibly damaging 0.94
R1542:Tmprss5 UTSW 9 49,020,434 (GRCm39) missense possibly damaging 0.81
R1819:Tmprss5 UTSW 9 49,018,464 (GRCm39) missense probably benign 0.09
R2395:Tmprss5 UTSW 9 49,026,435 (GRCm39) nonsense probably null
R4600:Tmprss5 UTSW 9 49,024,548 (GRCm39) missense possibly damaging 0.67
R4967:Tmprss5 UTSW 9 49,026,817 (GRCm39) missense probably damaging 0.98
R5819:Tmprss5 UTSW 9 49,025,779 (GRCm39) splice site probably null
R7266:Tmprss5 UTSW 9 49,025,841 (GRCm39) missense probably benign
R7876:Tmprss5 UTSW 9 49,020,391 (GRCm39) missense probably benign 0.10
R8354:Tmprss5 UTSW 9 49,018,439 (GRCm39) missense possibly damaging 0.74
R8995:Tmprss5 UTSW 9 49,025,894 (GRCm39) critical splice donor site probably null
Z1177:Tmprss5 UTSW 9 49,026,455 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02