Incidental Mutation 'R5368:Tmprss7'
ID 429503
Institutional Source Beutler Lab
Gene Symbol Tmprss7
Ensembl Gene ENSMUSG00000033177
Gene Name transmembrane serine protease 7
Synonyms B230219I23Rik, LOC385645, matriptase-3
MMRRC Submission 043204-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5368 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 45476678-45514021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45481252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 645 (W645R)
Ref Sequence ENSEMBL: ENSMUSP00000110209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114562]
AlphaFold Q8BIK6
Predicted Effect probably damaging
Transcript: ENSMUST00000114562
AA Change: W645R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: W645R

DomainStartEndE-ValueType
low complexity region 28 55 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
Pfam:SEA 94 198 4.6e-23 PFAM
CUB 233 346 9.35e-4 SMART
Pfam:CUB 351 454 3e-7 PFAM
LDLa 469 506 5.63e-13 SMART
LDLa 510 541 5.56e-2 SMART
LDLa 544 582 8.95e-7 SMART
Tryp_SPc 591 821 7.17e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170951
Meta Mutation Damage Score 0.8093 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,925 (GRCm39) H97L possibly damaging Het
Abca9 T A 11: 110,036,372 (GRCm39) N579I probably damaging Het
Acbd3 A T 1: 180,549,660 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,509,199 (GRCm39) I1056N probably damaging Het
Ceacam18 T C 7: 43,291,458 (GRCm39) V300A probably benign Het
Cfap46 C A 7: 139,207,389 (GRCm39) R1843S possibly damaging Het
D430041D05Rik A G 2: 104,078,629 (GRCm39) V1229A probably damaging Het
Dbx2 G A 15: 95,538,522 (GRCm39) S206L probably benign Het
Dnah11 A T 12: 117,918,628 (GRCm39) D1530E probably damaging Het
Ecm2 A C 13: 49,674,419 (GRCm39) T280P probably benign Het
Emc2 G A 15: 43,375,207 (GRCm39) probably null Het
Epb42 C T 2: 120,849,943 (GRCm39) V689I probably benign Het
Fam114a1 T A 5: 65,163,452 (GRCm39) M209K possibly damaging Het
Fam117a C T 11: 95,266,459 (GRCm39) S193F probably damaging Het
Foxp2 A T 6: 15,377,913 (GRCm39) probably benign Het
Frmd6 T A 12: 70,910,874 (GRCm39) C19* probably null Het
Fyb1 A G 15: 6,610,159 (GRCm39) probably null Het
Gata6 C A 18: 11,063,059 (GRCm39) H442Q possibly damaging Het
Gldc A G 19: 30,135,921 (GRCm39) S160P probably benign Het
Gm3952 A G 8: 129,472,455 (GRCm39) S1626P possibly damaging Het
Gm9762 T A 3: 78,873,742 (GRCm39) noncoding transcript Het
Gtpbp2 T C 17: 46,477,230 (GRCm39) probably benign Het
Hgd A T 16: 37,410,113 (GRCm39) T50S probably benign Het
Itpr1 C T 6: 108,364,459 (GRCm39) T22M probably damaging Het
Kif26b G A 1: 178,743,449 (GRCm39) E1182K probably damaging Het
Kirrel3 A G 9: 34,919,034 (GRCm39) E230G probably damaging Het
Leng8 A G 7: 4,142,987 (GRCm39) Y88C probably damaging Het
Lpo T C 11: 87,711,895 (GRCm39) D54G possibly damaging Het
Lypd2 G T 15: 74,604,908 (GRCm39) A29E probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mical3 T C 6: 120,936,434 (GRCm39) Y1364C probably damaging Het
Mroh2b A G 15: 4,935,054 (GRCm39) N163S probably damaging Het
Mtf1 G A 4: 124,718,872 (GRCm39) C295Y probably damaging Het
Nbn T A 4: 15,969,391 (GRCm39) L212Q probably damaging Het
Obscn A T 11: 58,959,852 (GRCm39) probably null Het
Or10ag56 T A 2: 87,139,126 (GRCm39) probably null Het
Or4c110 A G 2: 88,832,435 (GRCm39) S66P probably damaging Het
Peli1 A G 11: 21,098,389 (GRCm39) T375A probably damaging Het
Picalm T C 7: 89,856,803 (GRCm39) *611Q probably null Het
Plch1 G T 3: 63,609,394 (GRCm39) Q938K possibly damaging Het
Plxnb2 A G 15: 89,043,796 (GRCm39) V1352A possibly damaging Het
Pmepa1 G A 2: 173,070,115 (GRCm39) R147W probably damaging Het
Prdm16 T G 4: 154,429,848 (GRCm39) K373Q probably damaging Het
Qki T G 17: 10,457,964 (GRCm39) E135A probably damaging Het
Rad50 T C 11: 53,575,073 (GRCm39) K556E probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sin3a T A 9: 57,018,084 (GRCm39) D834E possibly damaging Het
Smg8 G A 11: 86,971,086 (GRCm39) S895L probably benign Het
Sorl1 T C 9: 41,890,686 (GRCm39) I1944M probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tns1 T C 1: 73,980,176 (GRCm39) M1111V probably benign Het
Ttn A C 2: 76,608,726 (GRCm39) D17763E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 G A 4: 139,124,839 (GRCm39) probably benign Het
Usp31 T C 7: 121,260,588 (GRCm39) H637R probably damaging Het
Vps50 A C 6: 3,567,739 (GRCm39) E545A possibly damaging Het
Wdfy3 G T 5: 102,020,724 (GRCm39) L2527M probably damaging Het
Wfdc2 T C 2: 164,405,354 (GRCm39) V85A possibly damaging Het
Other mutations in Tmprss7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Tmprss7 APN 16 45,483,731 (GRCm39) missense probably benign
IGL00985:Tmprss7 APN 16 45,482,685 (GRCm39) missense probably damaging 1.00
IGL01115:Tmprss7 APN 16 45,481,152 (GRCm39) missense probably damaging 1.00
IGL01296:Tmprss7 APN 16 45,504,937 (GRCm39) missense probably damaging 0.98
IGL01298:Tmprss7 APN 16 45,484,538 (GRCm39) missense probably benign 0.00
IGL01459:Tmprss7 APN 16 45,483,706 (GRCm39) missense probably benign 0.00
IGL01785:Tmprss7 APN 16 45,500,997 (GRCm39) missense probably damaging 1.00
IGL02313:Tmprss7 APN 16 45,501,956 (GRCm39) missense probably damaging 1.00
IGL02893:Tmprss7 APN 16 45,489,891 (GRCm39) missense possibly damaging 0.65
IGL02940:Tmprss7 APN 16 45,476,818 (GRCm39) missense probably damaging 1.00
IGL03291:Tmprss7 APN 16 45,501,111 (GRCm39) missense probably benign
amalgum UTSW 16 45,503,873 (GRCm39) missense probably benign 0.15
fusion UTSW 16 45,511,123 (GRCm39) missense probably damaging 1.00
steely UTSW 16 45,487,969 (GRCm39) nonsense probably null
P0019:Tmprss7 UTSW 16 45,501,096 (GRCm39) missense probably benign
R0051:Tmprss7 UTSW 16 45,494,302 (GRCm39) missense probably damaging 1.00
R0051:Tmprss7 UTSW 16 45,494,302 (GRCm39) missense probably damaging 1.00
R0092:Tmprss7 UTSW 16 45,487,959 (GRCm39) missense probably damaging 1.00
R0178:Tmprss7 UTSW 16 45,511,206 (GRCm39) missense probably damaging 1.00
R0219:Tmprss7 UTSW 16 45,476,820 (GRCm39) missense probably damaging 1.00
R0332:Tmprss7 UTSW 16 45,501,001 (GRCm39) missense probably benign 0.01
R0607:Tmprss7 UTSW 16 45,489,914 (GRCm39) missense probably damaging 0.97
R0669:Tmprss7 UTSW 16 45,498,325 (GRCm39) nonsense probably null
R0783:Tmprss7 UTSW 16 45,487,969 (GRCm39) nonsense probably null
R1447:Tmprss7 UTSW 16 45,501,033 (GRCm39) missense probably benign
R1538:Tmprss7 UTSW 16 45,499,753 (GRCm39) missense probably benign 0.44
R1564:Tmprss7 UTSW 16 45,482,516 (GRCm39) critical splice donor site probably null
R1912:Tmprss7 UTSW 16 45,476,911 (GRCm39) nonsense probably null
R1932:Tmprss7 UTSW 16 45,504,956 (GRCm39) nonsense probably null
R2257:Tmprss7 UTSW 16 45,506,696 (GRCm39) missense possibly damaging 0.47
R3840:Tmprss7 UTSW 16 45,481,195 (GRCm39) nonsense probably null
R4232:Tmprss7 UTSW 16 45,476,936 (GRCm39) missense probably damaging 1.00
R4332:Tmprss7 UTSW 16 45,506,690 (GRCm39) missense probably benign 0.00
R4685:Tmprss7 UTSW 16 45,499,711 (GRCm39) missense probably benign
R4712:Tmprss7 UTSW 16 45,511,123 (GRCm39) missense probably damaging 1.00
R4822:Tmprss7 UTSW 16 45,483,679 (GRCm39) missense probably damaging 1.00
R5386:Tmprss7 UTSW 16 45,489,891 (GRCm39) missense possibly damaging 0.65
R5468:Tmprss7 UTSW 16 45,476,811 (GRCm39) missense probably damaging 1.00
R5526:Tmprss7 UTSW 16 45,481,267 (GRCm39) missense probably damaging 1.00
R5719:Tmprss7 UTSW 16 45,506,793 (GRCm39) missense probably damaging 0.99
R6149:Tmprss7 UTSW 16 45,494,268 (GRCm39) nonsense probably null
R6235:Tmprss7 UTSW 16 45,478,485 (GRCm39) missense probably benign 0.03
R6358:Tmprss7 UTSW 16 45,489,936 (GRCm39) missense probably benign 0.00
R6645:Tmprss7 UTSW 16 45,511,326 (GRCm39) missense possibly damaging 0.90
R7187:Tmprss7 UTSW 16 45,498,317 (GRCm39) missense possibly damaging 0.50
R7222:Tmprss7 UTSW 16 45,511,256 (GRCm39) missense probably benign
R7634:Tmprss7 UTSW 16 45,483,637 (GRCm39) missense probably benign 0.00
R7747:Tmprss7 UTSW 16 45,503,873 (GRCm39) missense probably benign 0.15
R7776:Tmprss7 UTSW 16 45,488,014 (GRCm39) missense probably benign 0.03
R7777:Tmprss7 UTSW 16 45,480,963 (GRCm39) splice site probably null
R8222:Tmprss7 UTSW 16 45,478,461 (GRCm39) missense probably damaging 0.99
R8983:Tmprss7 UTSW 16 45,481,263 (GRCm39) missense probably damaging 0.98
R9472:Tmprss7 UTSW 16 45,501,052 (GRCm39) missense probably benign 0.09
R9485:Tmprss7 UTSW 16 45,498,282 (GRCm39) nonsense probably null
R9502:Tmprss7 UTSW 16 45,484,555 (GRCm39) missense probably damaging 1.00
R9516:Tmprss7 UTSW 16 45,484,564 (GRCm39) missense probably benign 0.00
T0975:Tmprss7 UTSW 16 45,501,096 (GRCm39) missense probably benign
Z1176:Tmprss7 UTSW 16 45,482,619 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGCTGGAGGAATGCATATTGG -3'
(R):5'- TATAGGTCATGAGATGTCAGAAGGC -3'

Sequencing Primer
(F):5'- GGAATGCATATTGGTTGAATGAGC -3'
(R):5'- CTTCATTGCTGTGTCTAGCAAAGAG -3'
Posted On 2016-09-06