Incidental Mutation 'R8962:Adamts17'
ID 682392
Institutional Source Beutler Lab
Gene Symbol Adamts17
Ensembl Gene ENSMUSG00000058145
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 17
Synonyms AU023434
MMRRC Submission 068796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R8962 (G1)
Quality Score 186.009
Status Validated
Chromosome 7
Chromosomal Location 66489483-66802919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 66725057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 162 (L162V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098382] [ENSMUST00000107478]
AlphaFold E9Q4D1
Predicted Effect probably damaging
Transcript: ENSMUST00000098382
AA Change: L793V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: L793V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 35 179 2.9e-25 PFAM
Pfam:Reprolysin_5 228 422 3.1e-15 PFAM
Pfam:Reprolysin_2 248 440 6.1e-13 PFAM
Pfam:Reprolysin_3 252 398 2.2e-12 PFAM
Pfam:Reprolysin_4 328 446 7.1e-10 PFAM
Pfam:Reprolysin 334 450 2e-18 PFAM
Blast:ACR 454 533 3e-12 BLAST
TSP1 544 596 2.2e-15 SMART
Pfam:ADAM_spacer1 698 808 6.4e-30 PFAM
TSP1 829 887 1.81e-1 SMART
TSP1 889 942 1.15e-4 SMART
TSP1 949 993 4.05e-5 SMART
TSP1 1000 1054 2.91e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107478
AA Change: L766V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: L766V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 34 180 3.1e-23 PFAM
Pfam:Reprolysin_5 228 424 3.2e-15 PFAM
Pfam:Reprolysin_2 248 440 5.9e-11 PFAM
Pfam:Reprolysin_3 252 398 6e-12 PFAM
Pfam:Reprolysin_4 328 446 6.8e-10 PFAM
Pfam:Reprolysin 334 450 4.3e-21 PFAM
Blast:ACR 454 533 3e-12 BLAST
TSP1 544 596 2.2e-15 SMART
Pfam:ADAM_spacer1 700 781 2.2e-16 PFAM
TSP1 802 860 1.81e-1 SMART
TSP1 862 915 1.15e-4 SMART
TSP1 922 966 4.05e-5 SMART
TSP1 973 1027 2.91e-6 SMART
Pfam:PLAC 1046 1080 1.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154103
AA Change: L162V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121836
Gene: ENSMUSG00000058145
AA Change: L162V

DomainStartEndE-ValueType
Pfam:ADAM_spacer1 68 178 4e-31 PFAM
Blast:TSP1 199 234 6e-17 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 99% (86/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,220,173 (GRCm39) M120L probably benign Het
Abat A G 16: 8,396,166 (GRCm39) T48A probably damaging Het
Abca8a A T 11: 109,969,634 (GRCm39) I314N probably damaging Het
Abr A T 11: 76,352,155 (GRCm39) V108D probably damaging Het
Adamts6 A T 13: 104,433,899 (GRCm39) K109N probably damaging Het
Ago3 A G 4: 126,241,595 (GRCm39) F68S probably damaging Het
Aifm3 T C 16: 17,324,200 (GRCm39) probably null Het
Ankrd26 T C 6: 118,512,104 (GRCm39) E506G probably benign Het
Apaf1 A G 10: 90,903,066 (GRCm39) L185P probably damaging Het
Atp8b3 G T 10: 80,355,896 (GRCm39) T1272K probably benign Het
Cars2 A G 8: 11,587,304 (GRCm39) V193A probably benign Het
Ccn5 C T 2: 163,667,160 (GRCm39) R54* probably null Het
Ccr8 A T 9: 119,923,613 (GRCm39) I243F possibly damaging Het
Col12a1 A G 9: 79,538,901 (GRCm39) V2465A probably damaging Het
Ctbp1 T C 5: 33,416,616 (GRCm39) N127S probably benign Het
Ddx10 A G 9: 53,149,377 (GRCm39) S117P probably damaging Het
Dgkb T C 12: 38,189,494 (GRCm39) probably null Het
Dnah11 T A 12: 117,916,273 (GRCm39) D3520V probably damaging Het
Dnah11 C T 12: 117,918,630 (GRCm39) D1530N probably damaging Het
Dock5 T C 14: 67,994,640 (GRCm39) T1807A probably benign Het
Drd3 C T 16: 43,641,842 (GRCm39) T386I probably damaging Het
Dsg1b A G 18: 20,542,316 (GRCm39) N941S probably damaging Het
Enpp3 T C 10: 24,696,513 (GRCm39) T141A probably benign Het
Esyt1 A T 10: 128,356,566 (GRCm39) C360S possibly damaging Het
Ethe1 T A 7: 24,305,682 (GRCm39) V143D probably damaging Het
Fam170b A G 14: 32,557,336 (GRCm39) D57G probably benign Het
Fam53c T C 18: 34,901,229 (GRCm39) S49P probably damaging Het
Fbp1 G A 13: 63,023,067 (GRCm39) L77F probably benign Het
Gm17093 A G 14: 44,758,149 (GRCm39) E110G Het
Gm21976 G T 13: 98,423,821 (GRCm39) silent Het
Golgb1 T C 16: 36,733,978 (GRCm39) I1075T probably damaging Het
Grip2 T C 6: 91,754,391 (GRCm39) D628G probably damaging Het
Gtpbp1 G T 15: 79,601,929 (GRCm39) L557F probably benign Het
Ighv12-3 A T 12: 114,330,204 (GRCm39) F97Y probably benign Het
Itga8 T C 2: 12,196,045 (GRCm39) H635R possibly damaging Het
Itgb7 A G 15: 102,127,037 (GRCm39) L466S probably damaging Het
Klc2 T C 19: 5,161,864 (GRCm39) D277G probably benign Het
Ktn1 A G 14: 47,901,248 (GRCm39) E2G probably damaging Het
Lcmt1 T A 7: 123,000,669 (GRCm39) Y68N probably damaging Het
Marchf10 G T 11: 105,280,815 (GRCm39) S490* probably null Het
Mterf1b A T 5: 4,246,437 (GRCm39) Y26F probably benign Het
Myo18b T A 5: 113,006,346 (GRCm39) I855F probably benign Het
Nek4 G A 14: 30,675,915 (GRCm39) M83I probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 T C 5: 118,017,405 (GRCm39) V256A probably benign Het
Nr1h2 T C 7: 44,201,463 (GRCm39) T50A probably benign Het
Or14c42-ps1 T A 7: 86,211,317 (GRCm39) *126K probably null Het
Or4n4 A C 14: 50,518,816 (GRCm39) M298R possibly damaging Het
Ovol2 G C 2: 144,147,834 (GRCm39) R172G probably damaging Het
Parp14 A G 16: 35,677,187 (GRCm39) I927T probably damaging Het
Pcdhga7 T A 18: 37,848,879 (GRCm39) H295Q probably benign Het
Pkhd1l1 C T 15: 44,400,291 (GRCm39) T2145I probably damaging Het
Plekhs1 C T 19: 56,461,680 (GRCm39) T139I possibly damaging Het
Rab11fip3 T A 17: 26,231,007 (GRCm39) D746V probably damaging Het
Rnf214 A C 9: 45,809,728 (GRCm39) probably null Het
Rtn4ip1 A T 10: 43,822,415 (GRCm39) probably null Het
S1pr1 T C 3: 115,505,569 (GRCm39) R342G Het
Serpina1f T C 12: 103,656,131 (GRCm39) S366G probably benign Het
Sestd1 A T 2: 77,042,708 (GRCm39) M282K probably benign Het
Siglecf T G 7: 43,001,140 (GRCm39) V36G probably damaging Het
Slc1a1 T C 19: 28,886,869 (GRCm39) V410A probably damaging Het
Slc38a4 C A 15: 96,917,684 (GRCm39) D14Y probably benign Het
Slk C T 19: 47,610,748 (GRCm39) T806M probably damaging Het
Slurp2 C A 15: 74,615,249 (GRCm39) V48F possibly damaging Het
Socs1 A G 16: 10,602,642 (GRCm39) S32P possibly damaging Het
Son T C 16: 91,455,057 (GRCm39) V1268A possibly damaging Het
Sp7 C A 15: 102,274,880 (GRCm39) probably benign Het
Speer4a2 T G 5: 26,290,745 (GRCm39) E142A probably benign Het
Taar7b T G 10: 23,876,359 (GRCm39) S175A probably benign Het
Tet2 T C 3: 133,193,804 (GRCm39) N210S probably benign Het
Tkfc T C 19: 10,570,700 (GRCm39) D492G probably damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Trmt9b A G 8: 36,972,729 (GRCm39) K60E probably damaging Het
Tshz2 C A 2: 169,726,524 (GRCm39) F373L probably damaging Het
Ttc29 T A 8: 79,042,336 (GRCm39) L307Q probably damaging Het
Tubd1 G A 11: 86,439,659 (GRCm39) M1I probably null Het
Vmn1r62 T A 7: 5,678,601 (GRCm39) M94K probably damaging Het
Vmn2r125 T C 4: 156,703,186 (GRCm39) I188T possibly damaging Het
Vmn2r5 T C 3: 64,398,564 (GRCm39) D805G probably damaging Het
Vmn2r6 A T 3: 64,463,576 (GRCm39) D419E probably damaging Het
Vps39 A T 2: 120,174,687 (GRCm39) Y98* probably null Het
Zdbf2 G A 1: 63,347,162 (GRCm39) G1847D probably benign Het
Zdhhc6 T C 19: 55,287,239 (GRCm39) E407G probably benign Het
Zfp407 A G 18: 84,577,057 (GRCm39) I1352T probably damaging Het
Zfp607a A G 7: 27,578,786 (GRCm39) K619E possibly damaging Het
Zfp811 A T 17: 33,017,622 (GRCm39) N139K probably benign Het
Other mutations in Adamts17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Adamts17 APN 7 66,618,650 (GRCm39) missense probably damaging 1.00
IGL00950:Adamts17 APN 7 66,770,660 (GRCm39) missense possibly damaging 0.69
IGL01532:Adamts17 APN 7 66,558,349 (GRCm39) missense probably damaging 1.00
IGL01591:Adamts17 APN 7 66,654,144 (GRCm39) missense probably damaging 1.00
IGL01602:Adamts17 APN 7 66,538,159 (GRCm39) missense probably benign 0.29
IGL01640:Adamts17 APN 7 66,679,428 (GRCm39) missense probably damaging 0.98
IGL01686:Adamts17 APN 7 66,490,037 (GRCm39) missense probably benign 0.06
IGL01747:Adamts17 APN 7 66,701,759 (GRCm39) missense probably damaging 1.00
IGL02081:Adamts17 APN 7 66,711,858 (GRCm39) missense probably damaging 1.00
IGL02152:Adamts17 APN 7 66,774,748 (GRCm39) missense probably benign 0.01
IGL02264:Adamts17 APN 7 66,697,207 (GRCm39) splice site probably null
IGL02457:Adamts17 APN 7 66,677,562 (GRCm39) missense probably damaging 0.99
IGL02519:Adamts17 APN 7 66,774,721 (GRCm39) missense possibly damaging 0.82
IGL02530:Adamts17 APN 7 66,559,124 (GRCm39) missense probably damaging 1.00
IGL02649:Adamts17 APN 7 66,499,626 (GRCm39) splice site probably benign
IGL02711:Adamts17 APN 7 66,701,788 (GRCm39) splice site probably benign
IGL03006:Adamts17 APN 7 66,728,095 (GRCm39) missense possibly damaging 0.53
IGL03203:Adamts17 APN 7 66,711,856 (GRCm39) missense probably damaging 1.00
IGL03343:Adamts17 APN 7 66,725,064 (GRCm39) missense probably damaging 1.00
BB007:Adamts17 UTSW 7 66,499,547 (GRCm39) missense probably damaging 0.96
BB017:Adamts17 UTSW 7 66,499,547 (GRCm39) missense probably damaging 0.96
E2594:Adamts17 UTSW 7 66,654,098 (GRCm39) missense probably damaging 1.00
R0380:Adamts17 UTSW 7 66,799,792 (GRCm39) missense probably benign 0.00
R0416:Adamts17 UTSW 7 66,565,646 (GRCm39) splice site probably null
R0635:Adamts17 UTSW 7 66,558,353 (GRCm39) missense probably damaging 1.00
R1083:Adamts17 UTSW 7 66,797,322 (GRCm39) missense probably damaging 1.00
R1476:Adamts17 UTSW 7 66,725,091 (GRCm39) missense probably damaging 1.00
R1728:Adamts17 UTSW 7 66,799,704 (GRCm39) nonsense probably null
R1729:Adamts17 UTSW 7 66,799,704 (GRCm39) nonsense probably null
R1763:Adamts17 UTSW 7 66,797,463 (GRCm39) missense probably damaging 1.00
R1784:Adamts17 UTSW 7 66,799,704 (GRCm39) nonsense probably null
R1905:Adamts17 UTSW 7 66,697,220 (GRCm39) nonsense probably null
R1938:Adamts17 UTSW 7 66,774,820 (GRCm39) missense probably damaging 1.00
R3106:Adamts17 UTSW 7 66,774,820 (GRCm39) missense probably damaging 1.00
R3796:Adamts17 UTSW 7 66,489,662 (GRCm39) splice site probably null
R3849:Adamts17 UTSW 7 66,490,215 (GRCm39) missense possibly damaging 0.92
R3850:Adamts17 UTSW 7 66,490,215 (GRCm39) missense possibly damaging 0.92
R3945:Adamts17 UTSW 7 66,770,687 (GRCm39) missense probably benign
R4519:Adamts17 UTSW 7 66,490,314 (GRCm39) missense probably damaging 0.99
R4554:Adamts17 UTSW 7 66,677,641 (GRCm39) missense probably damaging 1.00
R4555:Adamts17 UTSW 7 66,677,641 (GRCm39) missense probably damaging 1.00
R4556:Adamts17 UTSW 7 66,677,641 (GRCm39) missense probably damaging 1.00
R4557:Adamts17 UTSW 7 66,677,641 (GRCm39) missense probably damaging 1.00
R4700:Adamts17 UTSW 7 66,691,636 (GRCm39) missense probably damaging 1.00
R4752:Adamts17 UTSW 7 66,654,218 (GRCm39) missense probably damaging 0.96
R5019:Adamts17 UTSW 7 66,711,818 (GRCm39) nonsense probably null
R5438:Adamts17 UTSW 7 66,538,165 (GRCm39) missense probably benign 0.30
R5444:Adamts17 UTSW 7 66,691,647 (GRCm39) missense probably benign 0.02
R5673:Adamts17 UTSW 7 66,691,555 (GRCm39) missense probably damaging 1.00
R6326:Adamts17 UTSW 7 66,770,636 (GRCm39) missense probably benign 0.05
R6964:Adamts17 UTSW 7 66,654,101 (GRCm39) missense probably benign 0.00
R6964:Adamts17 UTSW 7 66,559,148 (GRCm39) missense possibly damaging 0.93
R7129:Adamts17 UTSW 7 66,770,758 (GRCm39) missense probably damaging 1.00
R7317:Adamts17 UTSW 7 66,490,304 (GRCm39) nonsense probably null
R7355:Adamts17 UTSW 7 66,725,052 (GRCm39) missense
R7386:Adamts17 UTSW 7 66,618,597 (GRCm39) missense probably benign 0.25
R7407:Adamts17 UTSW 7 66,697,304 (GRCm39) nonsense probably null
R7432:Adamts17 UTSW 7 66,701,665 (GRCm39) missense
R7782:Adamts17 UTSW 7 66,774,802 (GRCm39) missense probably damaging 1.00
R7817:Adamts17 UTSW 7 66,559,224 (GRCm39) missense probably damaging 0.99
R7930:Adamts17 UTSW 7 66,499,547 (GRCm39) missense probably damaging 0.96
R7993:Adamts17 UTSW 7 66,499,612 (GRCm39) missense possibly damaging 0.90
R8178:Adamts17 UTSW 7 66,499,464 (GRCm39) missense possibly damaging 0.46
R9095:Adamts17 UTSW 7 66,654,117 (GRCm39) missense probably damaging 1.00
R9111:Adamts17 UTSW 7 66,489,648 (GRCm39) missense probably damaging 0.96
R9303:Adamts17 UTSW 7 66,489,645 (GRCm39) missense probably damaging 0.99
R9305:Adamts17 UTSW 7 66,489,645 (GRCm39) missense probably damaging 0.99
R9505:Adamts17 UTSW 7 66,774,683 (GRCm39) missense probably benign 0.00
R9668:Adamts17 UTSW 7 66,797,438 (GRCm39) missense possibly damaging 0.61
X0022:Adamts17 UTSW 7 66,691,649 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- TAGAAAGAGTGTGCTCACCCC -3'
(R):5'- ATTTCTTGAGCCCAGCTGC -3'

Sequencing Primer
(F):5'- GTGTGCTCACCCCAGACAAG -3'
(R):5'- AGCCCAGCTGCTCCCTC -3'
Posted On 2021-08-31