Incidental Mutation 'R1721:Adamts20'
ID 191499
Institutional Source Beutler Lab
Gene Symbol Adamts20
Ensembl Gene ENSMUSG00000022449
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 20
Synonyms ADAMTS-20, bt
MMRRC Submission 039753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R1721 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 94166177-94329966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94236340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 844 (F844L)
Ref Sequence ENSEMBL: ENSMUSP00000121696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035342] [ENSMUST00000155907]
AlphaFold P59511
Predicted Effect probably benign
Transcript: ENSMUST00000035342
AA Change: F844L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: F844L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Pep_M12B_propep 41 186 1.4e-30 PFAM
Pfam:Reprolysin_5 253 445 3.6e-13 PFAM
Pfam:Reprolysin_4 253 460 1.1e-7 PFAM
Pfam:Reprolysin 255 464 1.5e-26 PFAM
Pfam:Reprolysin_2 272 454 1.8e-10 PFAM
Pfam:Reprolysin_3 276 410 5.8e-10 PFAM
TSP1 556 608 7.73e-11 SMART
Pfam:ADAM_spacer1 718 836 2.6e-34 PFAM
TSP1 846 901 1.47e-1 SMART
TSP1 904 958 2.83e0 SMART
TSP1 965 1019 4.28e-4 SMART
TSP1 1020 1074 1.89e-5 SMART
TSP1 1075 1131 4.87e-8 SMART
TSP1 1152 1201 6.05e-4 SMART
TSP1 1204 1260 1.22e-8 SMART
TSP1 1304 1356 1.37e-2 SMART
TSP1 1357 1411 6e-8 SMART
TSP1 1416 1470 1.69e-2 SMART
TSP1 1471 1526 2.3e0 SMART
TSP1 1530 1579 1.23e0 SMART
TSP1 1653 1706 5.27e-4 SMART
Pfam:GON 1708 1905 5.8e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155907
AA Change: F844L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121696
Gene: ENSMUSG00000022449
AA Change: F844L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Pep_M12B_propep 40 186 1e-31 PFAM
Pfam:Reprolysin_5 253 445 2.7e-13 PFAM
Pfam:Reprolysin_4 253 460 7.2e-8 PFAM
Pfam:Reprolysin 255 464 2.4e-28 PFAM
Pfam:Reprolysin_2 272 454 4e-10 PFAM
Pfam:Reprolysin_3 276 410 1.1e-10 PFAM
TSP1 556 608 7.73e-11 SMART
Pfam:ADAM_spacer1 718 836 2e-34 PFAM
TSP1 846 901 1.47e-1 SMART
TSP1 904 958 2.83e0 SMART
TSP1 965 1019 4.28e-4 SMART
TSP1 1020 1074 1.89e-5 SMART
TSP1 1075 1131 4.87e-8 SMART
TSP1 1152 1201 6.05e-4 SMART
TSP1 1204 1260 1.22e-8 SMART
TSP1 1304 1356 1.37e-2 SMART
TSP1 1357 1411 6e-8 SMART
Meta Mutation Damage Score 0.0965 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (87/88)
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. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Certain mutations in this gene cause defective development of neural crest-derived melanoblasts resulting in a "belted" phenotype that is characterized by white spots in the lumbar region. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for spontaneous or ENU-induced mutations exhibit abnormal coat/hair pigmentation, including a typical white belt phenotype. [provided by MGI curators]
Allele List at MGI

All alleles(17) : Targeted, other(1) Spontaneous(11) Chemically induced(5)

Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,901,995 (GRCm39) V559E probably benign Het
Adcy5 C A 16: 35,118,794 (GRCm39) D1048E probably damaging Het
Agrn A T 4: 156,259,630 (GRCm39) C768* probably null Het
Aldh18a1 G T 19: 40,553,282 (GRCm39) Q487K probably damaging Het
Aldh3b1 G A 19: 3,971,271 (GRCm39) probably benign Het
Asb18 T G 1: 89,896,302 (GRCm39) D246A probably benign Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
Bcl2l15 A G 3: 103,745,914 (GRCm39) probably null Het
Brd10 A T 19: 29,720,998 (GRCm39) S743T probably damaging Het
Cage1 T A 13: 38,207,309 (GRCm39) K285* probably null Het
Ccn2 A C 10: 24,472,695 (GRCm39) T202P probably damaging Het
Cldn17 A G 16: 88,303,444 (GRCm39) L95P probably damaging Het
Cldn20 A T 17: 3,583,157 (GRCm39) D110V probably damaging Het
Cnot10 T C 9: 114,444,067 (GRCm39) T443A probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Col23a1 T C 11: 51,418,716 (GRCm39) Y135H unknown Het
Cse1l T C 2: 166,768,331 (GRCm39) S210P probably damaging Het
Cspg4 T G 9: 56,796,027 (GRCm39) V1254G probably damaging Het
Dip2c A G 13: 9,709,404 (GRCm39) T1415A probably damaging Het
Epc2 A G 2: 49,422,117 (GRCm39) Y337C probably damaging Het
Epha2 A G 4: 141,049,963 (GRCm39) S799G probably damaging Het
Fndc10 A G 4: 155,779,355 (GRCm39) Y133C probably damaging Het
Gli3 G T 13: 15,900,882 (GRCm39) S1423I probably benign Het
Gm6034 A T 17: 36,354,045 (GRCm39) probably benign Het
Gmip A G 8: 70,263,882 (GRCm39) S109G probably damaging Het
Grik2 C A 10: 49,399,842 (GRCm39) W296L possibly damaging Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Il6 T A 5: 30,218,490 (GRCm39) Y46N possibly damaging Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Itga9 A G 9: 118,527,374 (GRCm39) probably benign Het
Kcna7 T C 7: 45,056,345 (GRCm39) V187A possibly damaging Het
Kdm5b G T 1: 134,540,919 (GRCm39) probably benign Het
Knl1 T G 2: 118,906,815 (GRCm39) S1635A probably damaging Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lox T G 18: 52,653,983 (GRCm39) probably null Het
Mdc1 A G 17: 36,158,718 (GRCm39) D366G possibly damaging Het
Meiob T C 17: 25,053,021 (GRCm39) C344R probably damaging Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Mon2 A T 10: 122,867,002 (GRCm39) M551K probably damaging Het
Mrps15 A G 4: 125,945,187 (GRCm39) T125A probably benign Het
Mtmr14 A G 6: 113,230,693 (GRCm39) H99R probably damaging Het
Mup4 A G 4: 59,960,598 (GRCm39) M1T probably null Het
Mup5 G A 4: 61,750,607 (GRCm39) R179* probably null Het
Ncoa3 T G 2: 165,911,221 (GRCm39) V1326G possibly damaging Het
Noa1 A T 5: 77,455,428 (GRCm39) N429K probably benign Het
Nrxn1 C T 17: 90,469,832 (GRCm39) A241T probably damaging Het
Or1p1 A T 11: 74,180,126 (GRCm39) Y218F probably damaging Het
Or2t49 C T 11: 58,392,765 (GRCm39) V206M probably damaging Het
Pcdh9 G A 14: 94,125,471 (GRCm39) S233L probably damaging Het
Peg3 C A 7: 6,712,900 (GRCm39) S774I possibly damaging Het
Phyh A G 2: 4,942,620 (GRCm39) K321R probably null Het
Plcg1 T A 2: 160,573,840 (GRCm39) M35K probably damaging Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Ppargc1b T A 18: 61,440,275 (GRCm39) probably null Het
Prcd A C 11: 116,548,371 (GRCm39) S27R probably benign Het
Prx T A 7: 27,216,948 (GRCm39) M622K probably benign Het
Psmd1 T A 1: 85,999,567 (GRCm39) D51E probably damaging Het
Psmd13 C T 7: 140,463,430 (GRCm39) T38I probably damaging Het
Ptprf A C 4: 118,082,096 (GRCm39) D1047E possibly damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Riiad1 G A 3: 94,380,176 (GRCm39) P40S possibly damaging Het
Rnft1 T A 11: 86,377,096 (GRCm39) N53K probably benign Het
Scn4a C T 11: 106,211,646 (GRCm39) R1457H probably benign Het
Sema6c A T 3: 95,078,099 (GRCm39) I492F probably damaging Het
Shbg T C 11: 69,505,798 (GRCm39) H403R probably damaging Het
Slc15a5 A T 6: 138,049,845 (GRCm39) probably benign Het
Slc38a1 G A 15: 96,485,016 (GRCm39) T221M probably damaging Het
Slc6a16 T A 7: 44,910,600 (GRCm39) V375E possibly damaging Het
Slc6a17 T A 3: 107,379,492 (GRCm39) M559L probably damaging Het
Slmap A G 14: 26,181,373 (GRCm39) probably benign Het
Sorcs2 G A 5: 36,184,092 (GRCm39) R965W probably damaging Het
St8sia4 C A 1: 95,581,394 (GRCm39) R116L probably damaging Het
Tcaf1 A C 6: 42,652,272 (GRCm39) S737A possibly damaging Het
Thbs2 T A 17: 14,899,072 (GRCm39) Y676F probably benign Het
Tmod2 A G 9: 75,493,324 (GRCm39) probably benign Het
Trim75 T C 8: 65,435,391 (GRCm39) probably null Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Usp54 A T 14: 20,633,508 (GRCm39) Y37* probably null Het
Vill T C 9: 118,895,082 (GRCm39) F100S probably damaging Het
Vstm5 A G 9: 15,168,663 (GRCm39) R76G probably benign Het
Zfp608 T C 18: 55,032,321 (GRCm39) T540A probably benign Het
Zfp947 A C 17: 22,365,184 (GRCm39) N163K probably benign Het
Zfyve26 T C 12: 79,308,573 (GRCm39) H228R possibly damaging Het
Other mutations in Adamts20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Adamts20 APN 15 94,292,522 (GRCm39) missense probably benign
IGL00491:Adamts20 APN 15 94,171,113 (GRCm39) missense possibly damaging 0.89
IGL00502:Adamts20 APN 15 94,301,278 (GRCm39) missense probably damaging 0.99
IGL00672:Adamts20 APN 15 94,238,986 (GRCm39) missense probably damaging 0.99
IGL00840:Adamts20 APN 15 94,180,363 (GRCm39) missense probably damaging 1.00
IGL00909:Adamts20 APN 15 94,277,694 (GRCm39) missense probably damaging 1.00
IGL01101:Adamts20 APN 15 94,241,923 (GRCm39) missense probably damaging 1.00
IGL01137:Adamts20 APN 15 94,292,492 (GRCm39) critical splice donor site probably null
IGL01457:Adamts20 APN 15 94,229,329 (GRCm39) missense probably damaging 0.97
IGL01685:Adamts20 APN 15 94,301,327 (GRCm39) missense possibly damaging 0.81
IGL01949:Adamts20 APN 15 94,223,987 (GRCm39) missense probably benign 0.08
IGL02525:Adamts20 APN 15 94,180,959 (GRCm39) splice site probably null
IGL03088:Adamts20 APN 15 94,227,795 (GRCm39) critical splice donor site probably null
IGL03175:Adamts20 APN 15 94,171,136 (GRCm39) nonsense probably null
belt UTSW 15 94,243,871 (GRCm39) missense probably damaging 1.00
buckeye UTSW 15 94,238,968 (GRCm39) missense probably damaging 1.00
jack_white UTSW 15 0 () unclassified
meowth UTSW 15 94,229,339 (GRCm39) missense probably damaging 1.00
nidoking UTSW 15 94,301,326 (GRCm39) missense probably damaging 1.00
panda UTSW 15 94,224,580 (GRCm39) intron probably benign
pikachu UTSW 15 94,243,871 (GRCm39) missense probably damaging 1.00
poliwag UTSW 15 94,292,503 (GRCm39) nonsense probably null
splotch2 UTSW 15 94,233,442 (GRCm39) intron probably benign
wash UTSW 15 94,245,551 (GRCm39) nonsense probably null
whitebelly UTSW 15 0 () unclassified
whopper UTSW 15 94,245,691 (GRCm39) missense probably damaging 1.00
R0483:Adamts20 UTSW 15 94,251,452 (GRCm39) missense probably benign 0.00
R0514:Adamts20 UTSW 15 94,168,257 (GRCm39) missense probably damaging 1.00
R0568:Adamts20 UTSW 15 94,189,594 (GRCm39) splice site probably benign
R0730:Adamts20 UTSW 15 94,245,571 (GRCm39) missense probably benign 0.00
R0973:Adamts20 UTSW 15 94,184,252 (GRCm39) missense probably benign 0.00
R1339:Adamts20 UTSW 15 94,220,777 (GRCm39) missense probably benign 0.19
R1809:Adamts20 UTSW 15 94,238,968 (GRCm39) missense probably damaging 1.00
R1832:Adamts20 UTSW 15 94,184,225 (GRCm39) missense probably benign 0.00
R1846:Adamts20 UTSW 15 94,243,871 (GRCm39) missense probably damaging 1.00
R1867:Adamts20 UTSW 15 94,236,340 (GRCm39) missense probably benign 0.44
R1875:Adamts20 UTSW 15 94,229,277 (GRCm39) missense probably benign 0.01
R1930:Adamts20 UTSW 15 94,301,891 (GRCm39) missense probably benign 0.03
R1931:Adamts20 UTSW 15 94,301,891 (GRCm39) missense probably benign 0.03
R1932:Adamts20 UTSW 15 94,301,891 (GRCm39) missense probably benign 0.03
R2001:Adamts20 UTSW 15 94,245,599 (GRCm39) missense possibly damaging 0.96
R2116:Adamts20 UTSW 15 94,253,243 (GRCm39) missense probably damaging 1.00
R2162:Adamts20 UTSW 15 94,229,339 (GRCm39) missense probably damaging 1.00
R2350:Adamts20 UTSW 15 94,181,797 (GRCm39) missense probably damaging 1.00
R2887:Adamts20 UTSW 15 94,228,459 (GRCm39) missense probably benign 0.00
R2889:Adamts20 UTSW 15 94,228,459 (GRCm39) missense probably benign 0.00
R2890:Adamts20 UTSW 15 94,228,459 (GRCm39) missense probably benign 0.00
R3109:Adamts20 UTSW 15 94,243,785 (GRCm39) splice site probably benign
R3719:Adamts20 UTSW 15 94,259,719 (GRCm39) missense probably damaging 0.99
R3832:Adamts20 UTSW 15 94,229,339 (GRCm39) missense probably damaging 1.00
R3901:Adamts20 UTSW 15 94,226,726 (GRCm39) missense possibly damaging 0.81
R4398:Adamts20 UTSW 15 94,231,576 (GRCm39) missense possibly damaging 0.93
R4402:Adamts20 UTSW 15 94,277,827 (GRCm39) missense probably benign
R4431:Adamts20 UTSW 15 94,241,924 (GRCm39) missense probably damaging 1.00
R4479:Adamts20 UTSW 15 94,301,326 (GRCm39) missense probably damaging 1.00
R4482:Adamts20 UTSW 15 94,243,801 (GRCm39) missense probably damaging 1.00
R4503:Adamts20 UTSW 15 94,277,631 (GRCm39) missense probably damaging 0.99
R4671:Adamts20 UTSW 15 94,301,206 (GRCm39) missense possibly damaging 0.48
R4700:Adamts20 UTSW 15 94,292,503 (GRCm39) nonsense probably null
R4707:Adamts20 UTSW 15 94,231,528 (GRCm39) missense possibly damaging 0.53
R4725:Adamts20 UTSW 15 94,249,643 (GRCm39) missense probably damaging 0.99
R4771:Adamts20 UTSW 15 94,249,516 (GRCm39) splice site probably null
R4829:Adamts20 UTSW 15 94,224,277 (GRCm39) missense probably benign 0.01
R4937:Adamts20 UTSW 15 94,277,656 (GRCm39) missense probably benign
R4960:Adamts20 UTSW 15 94,277,655 (GRCm39) missense probably benign
R5270:Adamts20 UTSW 15 94,180,400 (GRCm39) missense probably benign 0.00
R5388:Adamts20 UTSW 15 94,243,659 (GRCm39) missense possibly damaging 0.81
R5410:Adamts20 UTSW 15 94,179,838 (GRCm39) missense possibly damaging 0.94
R5453:Adamts20 UTSW 15 94,223,969 (GRCm39) missense possibly damaging 0.69
R5611:Adamts20 UTSW 15 94,171,161 (GRCm39) missense possibly damaging 0.65
R5687:Adamts20 UTSW 15 94,223,852 (GRCm39) missense probably benign 0.36
R5758:Adamts20 UTSW 15 94,292,531 (GRCm39) missense probably benign 0.00
R5801:Adamts20 UTSW 15 94,245,551 (GRCm39) nonsense probably null
R5834:Adamts20 UTSW 15 94,251,465 (GRCm39) missense probably damaging 0.99
R5993:Adamts20 UTSW 15 94,236,604 (GRCm39) missense probably damaging 0.99
R5997:Adamts20 UTSW 15 94,277,628 (GRCm39) missense probably damaging 1.00
R6044:Adamts20 UTSW 15 94,180,364 (GRCm39) missense probably damaging 1.00
R6058:Adamts20 UTSW 15 94,227,928 (GRCm39) nonsense probably null
R6217:Adamts20 UTSW 15 94,236,596 (GRCm39) missense probably benign 0.00
R6283:Adamts20 UTSW 15 94,249,602 (GRCm39) missense probably benign
R6354:Adamts20 UTSW 15 94,245,691 (GRCm39) missense probably damaging 1.00
R6415:Adamts20 UTSW 15 94,222,540 (GRCm39) critical splice donor site probably null
R6419:Adamts20 UTSW 15 94,231,556 (GRCm39) missense possibly damaging 0.84
R6476:Adamts20 UTSW 15 94,259,691 (GRCm39) missense probably benign 0.22
R6485:Adamts20 UTSW 15 94,241,852 (GRCm39) missense probably benign 0.17
R6517:Adamts20 UTSW 15 94,180,985 (GRCm39) splice site probably null
R6675:Adamts20 UTSW 15 94,229,197 (GRCm39) critical splice donor site probably null
R6863:Adamts20 UTSW 15 94,277,627 (GRCm39) nonsense probably null
R7186:Adamts20 UTSW 15 94,220,689 (GRCm39) missense possibly damaging 0.76
R7263:Adamts20 UTSW 15 94,220,772 (GRCm39) missense possibly damaging 0.52
R7441:Adamts20 UTSW 15 94,251,554 (GRCm39) missense probably damaging 1.00
R7519:Adamts20 UTSW 15 94,223,869 (GRCm39) missense possibly damaging 0.64
R7747:Adamts20 UTSW 15 94,189,468 (GRCm39) nonsense probably null
R7770:Adamts20 UTSW 15 94,231,579 (GRCm39) missense probably benign 0.02
R7816:Adamts20 UTSW 15 94,220,725 (GRCm39) missense probably benign 0.00
R7827:Adamts20 UTSW 15 94,223,814 (GRCm39) missense probably damaging 1.00
R7853:Adamts20 UTSW 15 94,243,871 (GRCm39) missense probably damaging 1.00
R7894:Adamts20 UTSW 15 94,249,641 (GRCm39) missense probably damaging 1.00
R7951:Adamts20 UTSW 15 94,238,947 (GRCm39) missense probably damaging 1.00
R8233:Adamts20 UTSW 15 94,189,533 (GRCm39) missense probably benign 0.19
R8458:Adamts20 UTSW 15 94,251,521 (GRCm39) missense probably benign 0.02
R8709:Adamts20 UTSW 15 94,238,947 (GRCm39) missense probably damaging 1.00
R8719:Adamts20 UTSW 15 94,241,903 (GRCm39) missense probably damaging 0.99
R8728:Adamts20 UTSW 15 94,229,281 (GRCm39) missense probably benign 0.00
R8787:Adamts20 UTSW 15 94,184,294 (GRCm39) missense possibly damaging 0.83
R8801:Adamts20 UTSW 15 94,258,490 (GRCm39) missense probably damaging 1.00
R9055:Adamts20 UTSW 15 94,181,867 (GRCm39) missense probably damaging 0.98
R9069:Adamts20 UTSW 15 94,236,349 (GRCm39) missense probably benign 0.00
R9297:Adamts20 UTSW 15 94,301,321 (GRCm39) missense possibly damaging 0.88
R9318:Adamts20 UTSW 15 94,301,321 (GRCm39) missense possibly damaging 0.88
R9362:Adamts20 UTSW 15 94,236,626 (GRCm39) missense possibly damaging 0.86
R9658:Adamts20 UTSW 15 94,249,626 (GRCm39) missense probably damaging 1.00
R9747:Adamts20 UTSW 15 94,180,943 (GRCm39) missense probably damaging 1.00
R9769:Adamts20 UTSW 15 94,251,459 (GRCm39) missense probably damaging 1.00
R9795:Adamts20 UTSW 15 94,301,180 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- ACAGACAGGGTACGTTGCAAGC -3'
(R):5'- AGAATTAACAGCACGGACCGGC -3'

Sequencing Primer
(F):5'- AAGCCCGTGTGCTCTGTG -3'
(R):5'- CTAACGGCTAGTAGGCAGC -3'
Posted On 2014-05-14