Incidental Mutation 'R4822:Tmprss7'
ID 371253
Institutional Source Beutler Lab
Gene Symbol Tmprss7
Ensembl Gene ENSMUSG00000033177
Gene Name transmembrane serine protease 7
Synonyms B230219I23Rik, LOC385645, matriptase-3
MMRRC Submission 042438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R4822 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 45476678-45514021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45483679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 565 (C565Y)
Ref Sequence ENSEMBL: ENSMUSP00000110209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114562]
AlphaFold Q8BIK6
Predicted Effect probably damaging
Transcript: ENSMUST00000114562
AA Change: C565Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: C565Y

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 0.8949 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (101/103)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik C T 14: 70,393,907 (GRCm39) V243I probably benign Het
Acadvl C T 11: 69,902,010 (GRCm39) G485S probably benign Het
Acap3 T A 4: 155,986,908 (GRCm39) probably benign Het
Adamts19 A G 18: 59,023,356 (GRCm39) I250M probably damaging Het
Amacr T A 15: 10,983,496 (GRCm39) I102N probably damaging Het
Apob A G 12: 8,065,741 (GRCm39) T4237A probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bicd1 A T 6: 149,420,752 (GRCm39) probably benign Het
Caskin2 T A 11: 115,698,125 (GRCm39) E49V probably damaging Het
Cemip T A 7: 83,622,449 (GRCm39) I577F probably benign Het
Chrnb1 T C 11: 69,686,501 (GRCm39) S40G possibly damaging Het
Ctif C T 18: 75,654,632 (GRCm39) C298Y probably benign Het
Cul9 A C 17: 46,840,977 (GRCm39) H764Q probably benign Het
Cwf19l2 T A 9: 3,458,839 (GRCm39) C763S probably damaging Het
Dhx57 A T 17: 80,549,596 (GRCm39) probably null Het
Dnaaf10 T A 11: 17,177,165 (GRCm39) N174K probably damaging Het
Dnhd1 G A 7: 105,353,171 (GRCm39) D2775N probably benign Het
Enpp1 A T 10: 24,537,833 (GRCm39) M384K possibly damaging Het
Fat2 T C 11: 55,202,144 (GRCm39) N310S probably benign Het
Fbxw7 A T 3: 84,874,814 (GRCm39) Y232F possibly damaging Het
Fcamr T A 1: 130,740,423 (GRCm39) S281T possibly damaging Het
Gm10762 C T 2: 128,809,106 (GRCm39) W81* probably null Het
Gm5592 A G 7: 40,805,314 (GRCm39) probably benign Het
Gm5745 T C 9: 73,082,980 (GRCm39) noncoding transcript Het
Gm6185 G C 1: 161,040,824 (GRCm39) noncoding transcript Het
Hid1 T A 11: 115,246,125 (GRCm39) N382Y probably damaging Het
Hoxa10 A T 6: 52,209,569 (GRCm39) F68I probably damaging Het
Ift88 T A 14: 57,679,326 (GRCm39) probably null Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Ighv7-2 A C 12: 113,875,892 (GRCm39) L37R probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnn3 G C 3: 89,574,596 (GRCm39) V703L possibly damaging Het
Kiz C A 2: 146,732,989 (GRCm39) S388R probably damaging Het
Klhl20 G A 1: 160,921,333 (GRCm39) Q41* probably null Het
Krt31 T C 11: 99,938,610 (GRCm39) I328V possibly damaging Het
Lama4 A T 10: 38,909,049 (GRCm39) I330L probably benign Het
Lipo2 A T 19: 33,723,151 (GRCm39) S213T probably benign Het
Lrsam1 A T 2: 32,816,804 (GRCm39) I723N probably damaging Het
Man2b2 G A 5: 36,972,865 (GRCm39) R550W probably damaging Het
Map4k5 A T 12: 69,888,758 (GRCm39) L224* probably null Het
Mast3 A G 8: 71,233,010 (GRCm39) S1101P probably damaging Het
Mertk A G 2: 128,643,225 (GRCm39) S875G probably benign Het
Mmel1 A G 4: 154,972,354 (GRCm39) M302V probably benign Het
Mrgpra3 T A 7: 47,239,716 (GRCm39) H70L possibly damaging Het
Myh3 T A 11: 66,979,836 (GRCm39) S592T probably benign Het
Nbeal2 T C 9: 110,465,383 (GRCm39) I451V possibly damaging Het
Nup155 T A 15: 8,158,010 (GRCm39) V489D possibly damaging Het
Obscn T A 11: 58,913,159 (GRCm39) T6300S probably benign Het
Oprm1 A G 10: 6,779,036 (GRCm39) I146V probably damaging Het
Or1ad1 T A 11: 50,875,910 (GRCm39) C127* probably null Het
Or1j4 A G 2: 36,740,888 (GRCm39) M277V probably benign Het
Or4k44 G T 2: 111,367,797 (GRCm39) T279K probably damaging Het
Or5ae1 A C 7: 84,565,634 (GRCm39) I216L possibly damaging Het
Otub1 A T 19: 7,181,794 (GRCm39) D27E probably damaging Het
Pik3ca T C 3: 32,492,131 (GRCm39) V243A probably benign Het
Pla2g12b G A 10: 59,252,336 (GRCm39) probably null Het
Plekha8 A G 6: 54,601,546 (GRCm39) D321G probably damaging Het
Pprc1 T C 19: 46,059,795 (GRCm39) probably benign Het
Prkdc A G 16: 15,468,576 (GRCm39) D129G possibly damaging Het
Rbms3 C T 9: 116,773,441 (GRCm39) probably benign Het
Rictor T A 15: 6,821,161 (GRCm39) V1495D probably benign Het
Rpl31-ps21 T C 5: 21,324,507 (GRCm39) noncoding transcript Het
Ryr3 A T 2: 112,483,090 (GRCm39) I4219N probably damaging Het
Sbf2 G A 7: 109,977,146 (GRCm39) probably benign Het
Scn10a C T 9: 119,467,738 (GRCm39) A801T probably damaging Het
Scn9a T A 2: 66,314,093 (GRCm39) Y1866F possibly damaging Het
Sec1 A C 7: 45,328,727 (GRCm39) Y107D probably damaging Het
Sema6d C T 2: 124,504,214 (GRCm39) T619M possibly damaging Het
Sh2b3 C A 5: 121,966,618 (GRCm39) probably benign Het
Slc2a4 A G 11: 69,837,413 (GRCm39) V44A probably damaging Het
Slc5a12 T C 2: 110,452,085 (GRCm39) I326T possibly damaging Het
Smarca5 T C 8: 81,435,309 (GRCm39) probably null Het
Smarcd2 A G 11: 106,157,357 (GRCm39) probably null Het
Snrpa1 A T 7: 65,719,321 (GRCm39) probably benign Het
Sptbn5 T G 2: 119,898,449 (GRCm39) K470Q probably benign Het
Stard9 T G 2: 120,526,422 (GRCm39) V893G possibly damaging Het
Stx8 T G 11: 67,864,099 (GRCm39) V53G possibly damaging Het
Sv2c A T 13: 96,122,457 (GRCm39) W440R probably damaging Het
Tcstv2a A T 13: 120,725,686 (GRCm39) T117S probably damaging Het
Tmem181a A T 17: 6,330,940 (GRCm39) I67F probably benign Het
Trafd1 A T 5: 121,516,561 (GRCm39) L109H probably damaging Het
Trpv4 A G 5: 114,768,083 (GRCm39) I422T possibly damaging Het
Usp24 T A 4: 106,273,244 (GRCm39) Y2210N probably damaging Het
Vmn1r236 A T 17: 21,507,202 (GRCm39) N107Y probably damaging Het
Vmn2r13 A T 5: 109,321,938 (GRCm39) I253K probably damaging Het
Vmn2r2 T A 3: 64,041,960 (GRCm39) I252F probably damaging Het
Vsig8 A G 1: 172,387,205 (GRCm39) D27G probably damaging Het
Wiz A T 17: 32,575,411 (GRCm39) Y908* probably null Het
Wnk1 A T 6: 119,939,399 (GRCm39) S1113T probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp691 G T 4: 119,027,764 (GRCm39) T156K probably damaging Het
Zfp791 A T 8: 85,837,035 (GRCm39) D276E probably benign 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
R5368:Tmprss7 UTSW 16 45,481,252 (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'- TTGTCTCTTTGGAGCAACATCAG -3'
(R):5'- AGTGACCCCATGACTAGGAC -3'

Sequencing Primer
(F):5'- CTCTTTGGAGCAACATCAGAGCTAG -3'
(R):5'- CATGACTAGGACACCTTTTTCACAG -3'
Posted On 2016-03-01