Incidental Mutation 'R0507:Adamts16'
ID 47689
Institutional Source Beutler Lab
Gene Symbol Adamts16
Ensembl Gene ENSMUSG00000049538
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 16
Synonyms
MMRRC Submission 038702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0507 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 70875921-70989930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70916766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 742 (D742G)
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: D742G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079041
Gene: ENSMUSG00000049538
AA Change: D742G

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: D742G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105316
Gene: ENSMUSG00000049538
AA Change: D742G

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
SMART Domains Protein: ENSMUSP00000122031
Gene: ENSMUSG00000049538

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,838,655 (GRCm39) probably benign Het
Akap9 G A 5: 4,119,043 (GRCm39) E3517K probably benign Het
Arfgef3 T C 10: 18,467,369 (GRCm39) T1944A probably damaging Het
Bsx A G 9: 40,787,796 (GRCm39) probably benign Het
Cct2 A T 10: 116,891,151 (GRCm39) probably null Het
Cdkl4 T C 17: 80,851,237 (GRCm39) D155G probably benign Het
Cep250 C T 2: 155,834,452 (GRCm39) R2126C possibly damaging Het
Cep97 A T 16: 55,726,245 (GRCm39) probably benign Het
Cpne3 C T 4: 19,532,544 (GRCm39) probably benign Het
Csmd1 T C 8: 16,235,358 (GRCm39) probably benign Het
Cx3cr1 C A 9: 119,881,022 (GRCm39) D127Y probably damaging Het
Dcdc2a A G 13: 25,286,572 (GRCm39) Q165R probably damaging Het
Ddx17 A G 15: 79,421,758 (GRCm39) probably benign Het
Dicer1 A G 12: 104,657,917 (GRCm39) S1886P probably damaging Het
Egf T C 3: 129,474,828 (GRCm39) D571G possibly damaging Het
Fyb1 A G 15: 6,664,297 (GRCm39) D460G probably benign Het
Gbp2 G T 3: 142,335,794 (GRCm39) D165Y probably damaging Het
Gm14412 A T 2: 177,006,325 (GRCm39) N523K possibly damaging Het
Gsap C T 5: 21,474,961 (GRCm39) T540I possibly damaging Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Icam4 C A 9: 20,940,799 (GRCm39) P17Q possibly damaging Het
Lyz1 A T 10: 117,125,022 (GRCm39) probably null Het
Matcap1 T C 8: 106,011,351 (GRCm39) N261S probably damaging Het
Mbd6 A G 10: 127,119,389 (GRCm39) probably benign Het
Mroh3 A T 1: 136,118,718 (GRCm39) I533N probably damaging Het
Muc4 A T 16: 32,569,887 (GRCm39) M316L probably benign Het
Myof A G 19: 37,889,725 (GRCm39) I1282T possibly damaging Het
Ncald T G 15: 37,397,528 (GRCm39) I51L probably benign Het
Negr1 T A 3: 156,267,862 (GRCm39) S11T probably damaging Het
Obscn T C 11: 58,920,167 (GRCm39) N6735D probably damaging Het
Or52n4b T C 7: 108,144,292 (GRCm39) S185P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6c1b A T 10: 129,273,157 (GRCm39) M159L probably benign Het
Or9q1 T A 19: 13,805,140 (GRCm39) I207F possibly damaging Het
Otogl A G 10: 107,702,601 (GRCm39) V684A possibly damaging Het
Palm3 A G 8: 84,754,958 (GRCm39) T157A probably benign Het
Pard3 T A 8: 128,097,967 (GRCm39) probably benign Het
Pcdh15 A G 10: 74,457,129 (GRCm39) D1302G probably damaging Het
Pi16 G A 17: 29,546,826 (GRCm39) E467K possibly damaging Het
Plec A T 15: 76,056,983 (GRCm39) I4183N probably damaging Het
Ppp1r13l T C 7: 19,109,739 (GRCm39) L720P possibly damaging Het
Prag1 A G 8: 36,571,277 (GRCm39) E620G probably damaging Het
Ralbp1 G A 17: 66,156,955 (GRCm39) T646M probably benign Het
Rnf182 T G 13: 43,821,823 (GRCm39) S125A probably benign Het
Rpe C T 1: 66,754,300 (GRCm39) T124I probably benign Het
Rufy4 T C 1: 74,185,875 (GRCm39) I514T probably benign Het
Sec13 A T 6: 113,712,080 (GRCm39) I85N probably damaging Het
Siglec1 C T 2: 130,916,445 (GRCm39) probably benign Het
Skint5 T C 4: 113,425,127 (GRCm39) probably null Het
Slc4a3 T A 1: 75,532,725 (GRCm39) I995K probably damaging Het
Smyd4 T A 11: 75,290,534 (GRCm39) S545T possibly damaging Het
Steap3 C T 1: 120,169,313 (GRCm39) R328H possibly damaging Het
Tgm6 G A 2: 129,980,751 (GRCm39) E183K possibly damaging Het
Themis T A 10: 28,657,828 (GRCm39) V132E possibly damaging Het
Thsd1 T A 8: 22,748,695 (GRCm39) I461N probably damaging Het
Ttk T G 9: 83,750,120 (GRCm39) S692A probably damaging Het
Twf1 A G 15: 94,483,411 (GRCm39) M99T probably damaging Het
Uchl3 T A 14: 101,904,443 (GRCm39) L89* probably null Het
Uhmk1 A G 1: 170,034,760 (GRCm39) V316A probably damaging Het
Unc80 A G 1: 66,567,052 (GRCm39) N886S possibly damaging Het
Vash2 G T 1: 190,699,115 (GRCm39) probably benign Het
Vmn1r200 G A 13: 22,579,718 (GRCm39) E174K probably benign Het
Vps16 T C 2: 130,279,632 (GRCm39) probably null Het
Wdr73 T C 7: 80,541,594 (GRCm39) E316G possibly damaging Het
Xpo1 T C 11: 23,244,682 (GRCm39) V1020A possibly damaging Het
Ylpm1 T A 12: 85,075,886 (GRCm39) N870K probably benign Het
Zfhx4 C T 3: 5,466,048 (GRCm39) Q2069* probably null Het
Zfp1005 T A 2: 150,110,044 (GRCm39) C245S possibly damaging Het
Zfp512b C A 2: 181,226,757 (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
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
R1617:Adamts16 UTSW 13 70,946,154 (GRCm39) missense probably benign 0.09
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'- AGGAAAATCCTCCCTGGAAGACCTC -3'
(R):5'- GCAGAGCCTGTGTGACTACACTAAC -3'

Sequencing Primer
(F):5'- TGGAAGACCTCAGCCCTCTAAG -3'
(R):5'- GGTCTAAGGTTTACTCTAGCACAGTC -3'
Posted On 2013-06-12