Incidental Mutation 'R1617:Adamts16'
ID 174386
Institutional Source Beutler Lab
Gene Symbol Adamts16
Ensembl Gene ENSMUSG00000049538
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 16
Synonyms
MMRRC Submission 039654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1617 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 70875921-70989930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70946154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 254 (M254L)
Ref Sequence ENSEMBL: ENSMUSP00000105316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080145] [ENSMUST00000109694] [ENSMUST00000123552]
AlphaFold Q69Z28
Predicted Effect probably benign
Transcript: ENSMUST00000080145
AA Change: M254L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000079041
Gene: ENSMUSG00000049538
AA Change: M254L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 26 36 N/A INTRINSIC
Pfam:Pep_M12B_propep 57 203 7.8e-34 PFAM
Pfam:Reprolysin_5 287 470 2.9e-13 PFAM
Pfam:Reprolysin_4 289 489 1.2e-8 PFAM
Pfam:Reprolysin 289 493 5.4e-32 PFAM
Pfam:Reprolysin_2 306 483 3.7e-10 PFAM
Pfam:Reprolysin_3 310 442 6.4e-11 PFAM
TSP1 587 639 1.43e-14 SMART
Pfam:ADAM_spacer1 744 856 1.3e-37 PFAM
TSP1 872 926 3.48e0 SMART
TSP1 928 985 4.84e-3 SMART
TSP1 987 1046 1.49e-3 SMART
TSP1 1052 1113 3.19e-2 SMART
TSP1 1127 1179 7.68e-6 SMART
Pfam:PLAC 1188 1218 2.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109694
AA Change: M254L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105316
Gene: ENSMUSG00000049538
AA Change: M254L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 26 36 N/A INTRINSIC
Pfam:Pep_M12B_propep 56 203 2.2e-32 PFAM
Pfam:Reprolysin_5 287 470 1.8e-13 PFAM
Pfam:Reprolysin_4 289 489 7.3e-9 PFAM
Pfam:Reprolysin 289 493 4.6e-33 PFAM
Pfam:Reprolysin_2 306 483 4.1e-10 PFAM
Pfam:Reprolysin_3 310 442 3.3e-10 PFAM
TSP1 587 639 1.43e-14 SMART
Pfam:ADAM_spacer1 744 856 1.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123552
AA Change: M254L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122031
Gene: ENSMUSG00000049538
AA Change: M254L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 26 36 N/A INTRINSIC
Pfam:Pep_M12B_propep 56 203 5.9e-33 PFAM
Pfam:Reprolysin_5 287 470 5.1e-14 PFAM
Pfam:Reprolysin_4 289 489 2.2e-9 PFAM
Pfam:Reprolysin 289 493 1.2e-33 PFAM
Pfam:Reprolysin_2 306 483 1.2e-10 PFAM
Pfam:Reprolysin_3 310 442 9.7e-11 PFAM
TSP1 587 639 1.43e-14 SMART
Meta Mutation Damage Score 0.1026 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency 98% (83/85)
MGI Phenotype FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. This gene is co-expressed with the Wilms tumor protein, Wt1, in the developing glomeruli of embryonic kidneys. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,603,473 (GRCm39) I91K probably damaging Het
AAdacl4fm3 T G 4: 144,441,961 (GRCm39) T97P probably damaging Het
Adgre5 T C 8: 84,456,806 (GRCm39) I192V possibly damaging Het
Akr1c21 G A 13: 4,626,351 (GRCm39) probably null Het
Amz2 A G 11: 109,324,850 (GRCm39) T245A probably benign Het
Aqp7 A C 4: 41,036,109 (GRCm39) M43R probably null Het
Arid3c G A 4: 41,725,103 (GRCm39) P315S probably damaging Het
Birc2 A T 9: 7,826,952 (GRCm39) Y345N possibly damaging Het
Blnk T C 19: 40,950,807 (GRCm39) T115A probably benign Het
Col5a1 T C 2: 27,842,393 (GRCm39) S423P unknown Het
Corin A T 5: 72,661,295 (GRCm39) F66Y possibly damaging Het
Cpd A T 11: 76,737,495 (GRCm39) W100R probably damaging Het
Cpsf1 A T 15: 76,486,570 (GRCm39) Y296* probably null Het
Cyp2d34 T C 15: 82,505,046 (GRCm39) T5A probably benign Het
Dhrs7c G T 11: 67,705,903 (GRCm39) V219L possibly damaging Het
Dnah3 T C 7: 119,689,169 (GRCm39) M82V probably benign Het
Dnah9 A G 11: 65,786,747 (GRCm39) S3629P probably damaging Het
Fbrs T C 7: 127,086,883 (GRCm39) L33P probably damaging Het
Fhip1b A G 7: 105,034,269 (GRCm39) L454P probably damaging Het
Galnt11 T A 5: 25,463,891 (GRCm39) S388T probably damaging Het
Glmp A G 3: 88,235,426 (GRCm39) probably benign Het
Gm9894 A G 13: 67,920,845 (GRCm39) noncoding transcript Het
Grik3 A G 4: 125,584,985 (GRCm39) M618V probably benign Het
Hmcn1 T C 1: 150,620,778 (GRCm39) D1144G probably damaging Het
Hnrnpa2b1 T C 6: 51,443,378 (GRCm39) K161R possibly damaging Het
Kmt2c T C 5: 25,580,925 (GRCm39) I523V probably benign Het
Lmln C T 16: 32,937,500 (GRCm39) P622S probably damaging Het
Lmtk2 A G 5: 144,110,680 (GRCm39) T467A probably damaging Het
Map1s T A 8: 71,366,095 (GRCm39) N333K probably damaging Het
Mgat4d C A 8: 84,092,340 (GRCm39) A242D probably damaging Het
Muc5b T A 7: 141,417,261 (GRCm39) Y3402* probably null Het
Myo3b G T 2: 70,111,562 (GRCm39) A922S probably benign Het
Nphs1 T C 7: 30,181,956 (GRCm39) V1183A probably benign Het
Nup160 T A 2: 90,509,843 (GRCm39) C31S probably benign Het
Or4c58 T C 2: 89,674,598 (GRCm39) T240A probably benign Het
Or8k25 A T 2: 86,244,035 (GRCm39) Y120* probably null Het
Pcdhb5 T G 18: 37,454,455 (GRCm39) Y278* probably null Het
Pkhd1 T A 1: 20,268,274 (GRCm39) E3368V possibly damaging Het
Pla2g6 A G 15: 79,173,341 (GRCm39) M676T probably benign Het
Plcb1 A T 2: 135,179,361 (GRCm39) N590Y probably damaging Het
Prr12 G A 7: 44,699,018 (GRCm39) probably benign Het
Psat1 A G 19: 15,901,666 (GRCm39) probably null Het
Ptpn9 T G 9: 56,934,692 (GRCm39) I152S possibly damaging Het
Ric8b T A 10: 84,783,475 (GRCm39) F111Y probably damaging Het
Slc44a3 G A 3: 121,254,914 (GRCm39) A568V probably benign Het
Smarcd3 T G 5: 24,800,192 (GRCm39) R213S probably damaging Het
Snx13 T C 12: 35,136,895 (GRCm39) Y119H probably damaging Het
Socs2 C A 10: 95,248,943 (GRCm39) E57* probably null Het
Spred1 C T 2: 117,005,828 (GRCm39) P197S probably benign Het
Srek1 G T 13: 103,880,112 (GRCm39) P482Q unknown Het
Tapbp A G 17: 34,139,405 (GRCm39) T134A probably benign Het
Tarbp1 T C 8: 127,171,007 (GRCm39) I998V possibly damaging Het
Tbcel G T 9: 42,372,589 (GRCm39) probably benign Het
Tec A G 5: 72,939,448 (GRCm39) F189S probably damaging Het
Tmprss11g A T 5: 86,647,422 (GRCm39) Y39N probably damaging Het
Tmtc1 A G 6: 148,256,902 (GRCm39) probably benign Het
Trpa1 A G 1: 14,943,899 (GRCm39) I1070T probably damaging Het
Trpm2 T A 10: 77,771,709 (GRCm39) probably null Het
Ttc21b G T 2: 66,056,379 (GRCm39) T669K probably benign Het
Ttll4 G A 1: 74,718,560 (GRCm39) R137H probably benign Het
Ubqln3 G T 7: 103,792,067 (GRCm39) L8I possibly damaging Het
Ung C A 5: 114,269,415 (GRCm39) N42K probably benign Het
Upp1 T C 11: 9,084,865 (GRCm39) S195P probably damaging Het
Urb1 T C 16: 90,557,340 (GRCm39) E1762G possibly damaging Het
Utp11 T C 4: 124,579,904 (GRCm39) K35E probably damaging Het
Vav3 A T 3: 109,418,294 (GRCm39) K305I probably damaging Het
Vmn1r197 A G 13: 22,512,498 (GRCm39) I140V possibly damaging Het
Vmn2r-ps158 A G 7: 42,673,503 (GRCm39) E187G probably benign Het
Zfc3h1 A G 10: 115,226,827 (GRCm39) T295A probably benign Het
Zfp268 A T 4: 145,350,877 (GRCm39) probably benign Het
Zfp46 T C 4: 136,017,823 (GRCm39) L219P probably damaging Het
Zfp493 G A 13: 67,931,999 (GRCm39) V33M probably damaging Het
Zfp92 T C X: 72,463,466 (GRCm39) probably benign Het
Other mutations in Adamts16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Adamts16 APN 13 70,943,603 (GRCm39) missense probably benign 0.01
IGL01338:Adamts16 APN 13 70,984,234 (GRCm39) missense probably damaging 1.00
IGL01663:Adamts16 APN 13 70,941,260 (GRCm39) missense probably benign 0.01
IGL01804:Adamts16 APN 13 70,949,080 (GRCm39) nonsense probably null
IGL01874:Adamts16 APN 13 70,916,823 (GRCm39) missense possibly damaging 0.79
IGL01984:Adamts16 APN 13 70,935,266 (GRCm39) missense probably damaging 1.00
IGL02305:Adamts16 APN 13 70,921,048 (GRCm39) missense probably damaging 1.00
IGL02350:Adamts16 APN 13 70,886,704 (GRCm39) missense probably benign 0.00
IGL02357:Adamts16 APN 13 70,886,704 (GRCm39) missense probably benign 0.00
IGL02429:Adamts16 APN 13 70,935,289 (GRCm39) splice site probably benign
IGL02450:Adamts16 APN 13 70,984,419 (GRCm39) missense probably damaging 0.97
IGL02807:Adamts16 APN 13 70,886,897 (GRCm39) critical splice donor site probably null
IGL03356:Adamts16 APN 13 70,901,410 (GRCm39) missense probably benign 0.00
swap UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
switcheroo UTSW 13 70,949,073 (GRCm39) missense probably benign
R0046:Adamts16 UTSW 13 70,911,579 (GRCm39) missense probably benign 0.00
R0046:Adamts16 UTSW 13 70,911,579 (GRCm39) missense probably benign 0.00
R0201:Adamts16 UTSW 13 70,927,763 (GRCm39) missense possibly damaging 0.69
R0326:Adamts16 UTSW 13 70,927,730 (GRCm39) missense possibly damaging 0.89
R0336:Adamts16 UTSW 13 70,939,913 (GRCm39) critical splice donor site probably benign
R0369:Adamts16 UTSW 13 70,927,671 (GRCm39) missense possibly damaging 0.94
R0422:Adamts16 UTSW 13 70,887,074 (GRCm39) missense probably damaging 1.00
R0507:Adamts16 UTSW 13 70,916,766 (GRCm39) missense probably benign
R0524:Adamts16 UTSW 13 70,949,013 (GRCm39) missense probably benign 0.00
R0590:Adamts16 UTSW 13 70,949,073 (GRCm39) missense probably benign
R0734:Adamts16 UTSW 13 70,886,600 (GRCm39) splice site probably benign
R0787:Adamts16 UTSW 13 70,886,948 (GRCm39) missense probably damaging 1.00
R0826:Adamts16 UTSW 13 70,916,811 (GRCm39) missense possibly damaging 0.64
R0920:Adamts16 UTSW 13 70,911,680 (GRCm39) splice site probably benign
R1027:Adamts16 UTSW 13 70,915,921 (GRCm39) missense probably damaging 1.00
R1462:Adamts16 UTSW 13 70,984,253 (GRCm39) missense probably benign 0.00
R1462:Adamts16 UTSW 13 70,984,253 (GRCm39) missense probably benign 0.00
R1535:Adamts16 UTSW 13 70,939,913 (GRCm39) critical splice donor site probably null
R1700:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1734:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1736:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1737:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1738:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1746:Adamts16 UTSW 13 70,927,717 (GRCm39) splice site probably null
R1869:Adamts16 UTSW 13 70,883,866 (GRCm39) missense probably damaging 1.00
R1944:Adamts16 UTSW 13 70,940,005 (GRCm39) missense possibly damaging 0.93
R1997:Adamts16 UTSW 13 70,901,386 (GRCm39) missense probably benign 0.39
R2018:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R2135:Adamts16 UTSW 13 70,949,126 (GRCm39) missense probably damaging 1.00
R2219:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R2228:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R3410:Adamts16 UTSW 13 70,901,345 (GRCm39) missense probably benign 0.00
R3411:Adamts16 UTSW 13 70,901,345 (GRCm39) missense probably benign 0.00
R3842:Adamts16 UTSW 13 70,887,010 (GRCm39) missense possibly damaging 0.92
R4117:Adamts16 UTSW 13 70,916,111 (GRCm39) missense probably benign 0.01
R4435:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4436:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4526:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4552:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4555:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4556:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4557:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4579:Adamts16 UTSW 13 70,927,743 (GRCm39) missense probably damaging 1.00
R4639:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4640:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4641:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4642:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4672:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R5350:Adamts16 UTSW 13 70,901,315 (GRCm39) nonsense probably null
R5464:Adamts16 UTSW 13 70,909,868 (GRCm39) missense probably benign 0.01
R5613:Adamts16 UTSW 13 70,878,253 (GRCm39) missense probably benign 0.01
R5667:Adamts16 UTSW 13 70,984,494 (GRCm39) nonsense probably null
R5735:Adamts16 UTSW 13 70,984,337 (GRCm39) missense possibly damaging 0.94
R5762:Adamts16 UTSW 13 70,886,617 (GRCm39) missense probably damaging 1.00
R5907:Adamts16 UTSW 13 70,877,029 (GRCm39) missense probably damaging 1.00
R6169:Adamts16 UTSW 13 70,918,393 (GRCm39) nonsense probably null
R6351:Adamts16 UTSW 13 70,984,322 (GRCm39) missense probably damaging 1.00
R6665:Adamts16 UTSW 13 70,927,689 (GRCm39) missense probably damaging 1.00
R6913:Adamts16 UTSW 13 70,877,017 (GRCm39) missense possibly damaging 0.94
R6982:Adamts16 UTSW 13 70,916,639 (GRCm39) splice site probably null
R6996:Adamts16 UTSW 13 70,946,157 (GRCm39) critical splice acceptor site probably null
R7313:Adamts16 UTSW 13 70,921,074 (GRCm39) nonsense probably null
R7356:Adamts16 UTSW 13 70,984,399 (GRCm39) missense probably benign 0.03
R7509:Adamts16 UTSW 13 70,935,283 (GRCm39) missense probably damaging 1.00
R7595:Adamts16 UTSW 13 70,878,234 (GRCm39) missense probably damaging 1.00
R7782:Adamts16 UTSW 13 70,984,265 (GRCm39) missense probably damaging 0.97
R7968:Adamts16 UTSW 13 70,886,701 (GRCm39) missense probably benign
R8231:Adamts16 UTSW 13 70,925,599 (GRCm39) missense probably damaging 0.99
R8232:Adamts16 UTSW 13 70,941,217 (GRCm39) missense probably damaging 1.00
R8470:Adamts16 UTSW 13 70,984,496 (GRCm39) missense probably damaging 1.00
R8485:Adamts16 UTSW 13 70,886,794 (GRCm39) missense possibly damaging 0.89
R8772:Adamts16 UTSW 13 70,984,453 (GRCm39) missense probably damaging 1.00
R8916:Adamts16 UTSW 13 70,941,307 (GRCm39) missense probably damaging 1.00
R8921:Adamts16 UTSW 13 70,939,910 (GRCm39) splice site probably benign
R8973:Adamts16 UTSW 13 70,886,959 (GRCm39) missense probably benign 0.00
R9132:Adamts16 UTSW 13 70,901,408 (GRCm39) missense probably benign 0.39
R9149:Adamts16 UTSW 13 70,883,948 (GRCm39) missense probably damaging 1.00
R9159:Adamts16 UTSW 13 70,901,408 (GRCm39) missense probably benign 0.39
R9312:Adamts16 UTSW 13 70,949,045 (GRCm39) missense probably damaging 1.00
R9584:Adamts16 UTSW 13 70,949,136 (GRCm39) missense probably damaging 1.00
Z1176:Adamts16 UTSW 13 70,909,892 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACATAGTGGGACACACAGTGGCAC -3'
(R):5'- AAGCTGGGCAGGTCTCTCTTCTTC -3'

Sequencing Primer
(F):5'- acacacacacacacacaaac -3'
(R):5'- TCTAACATGGGAACCCTATTGC -3'
Posted On 2014-04-24