Incidental Mutation 'R8728:Adamts20'
ID 662604
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 068576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R8728 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 94166177-94329966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94229281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 946 (G946D)
Ref Sequence ENSEMBL: ENSMUSP00000036330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035342] [ENSMUST00000155907]
AlphaFold P59511
Predicted Effect probably benign
Transcript: ENSMUST00000035342
AA Change: G946D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: G946D

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: G946D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121696
Gene: ENSMUSG00000022449
AA Change: G946D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A G 14: 66,295,086 (GRCm39) L253P probably damaging Het
Afdn A G 17: 14,119,207 (GRCm39) R1648G probably damaging Het
Ak9 G A 10: 41,282,959 (GRCm39) A1242T Het
Anxa9 T C 3: 95,209,979 (GRCm39) K127E probably damaging Het
Atp6v0a2 T C 5: 124,796,152 (GRCm39) S739P probably benign Het
Bloc1s6 A T 2: 122,588,026 (GRCm39) M122L possibly damaging Het
Bltp3b A T 10: 89,618,582 (GRCm39) M274L probably benign Het
Bms1 A G 6: 118,369,331 (GRCm39) I990T possibly damaging Het
Ccdc9b T C 2: 118,587,793 (GRCm39) T514A probably benign Het
Cdk14 G A 5: 5,470,117 (GRCm39) silent Het
Celsr3 T C 9: 108,723,940 (GRCm39) L2899S probably benign Het
Ces1b A T 8: 93,798,576 (GRCm39) D203E probably benign Het
Cnnm1 A G 19: 43,473,365 (GRCm39) N753S probably benign Het
Col19a1 C T 1: 24,365,113 (GRCm39) G501R probably damaging Het
Cym A G 3: 107,125,991 (GRCm39) F91L possibly damaging Het
Cyp2c67 T G 19: 39,614,605 (GRCm39) R307S probably damaging Het
Cyp3a59 G A 5: 146,035,122 (GRCm39) probably null Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dagla G A 19: 10,225,771 (GRCm39) R798C probably damaging Het
Dcaf1 C T 9: 106,724,005 (GRCm39) R478C possibly damaging Het
Dcbld1 T C 10: 52,109,929 (GRCm39) L28P probably benign Het
Ddr2 T C 1: 169,829,552 (GRCm39) D234G possibly damaging Het
Fam83a T A 15: 57,873,062 (GRCm39) M297K possibly damaging Het
Galnt18 T A 7: 111,119,243 (GRCm39) D426V probably damaging Het
Gm29735 ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA 7: 141,710,266 (GRCm39) probably benign Het
Gm43302 T C 5: 105,438,793 (GRCm39) I32V probably benign Het
Gm9944 T C 4: 144,179,601 (GRCm39) Y96C unknown Het
Hdac1-ps A G 17: 78,800,332 (GRCm39) K441R probably benign Het
Impdh2 C T 9: 108,437,562 (GRCm39) probably benign Het
Iws1 G A 18: 32,216,334 (GRCm39) R358Q probably damaging Het
Kctd18 G T 1: 58,002,289 (GRCm39) D179E probably damaging Het
Krt13 T G 11: 100,012,318 (GRCm39) S2R probably null Het
Krt78 A T 15: 101,856,225 (GRCm39) S529T probably benign Het
Krtap4-7 C G 11: 99,534,788 (GRCm39) C25S unknown Het
Lama1 T C 17: 68,125,663 (GRCm39) I2940T Het
Lmnb2 A G 10: 80,740,913 (GRCm39) probably null Het
Lrrc27 A T 7: 138,822,555 (GRCm39) E482V probably damaging Het
Lrrc72 G A 12: 36,258,656 (GRCm39) T67M probably benign Het
Malrd1 T A 2: 15,701,753 (GRCm39) C789* probably null Het
Mei1 T G 15: 81,966,182 (GRCm39) V268G Het
Mical3 C A 6: 120,950,514 (GRCm39) A966S probably damaging Het
Mmp10 C T 9: 7,502,480 (GRCm39) P29L probably benign Het
Mroh2b T C 15: 4,935,122 (GRCm39) F186L probably damaging Het
Muc4 A T 16: 32,754,952 (GRCm38) T1609S unknown Het
Myrfl A T 10: 116,634,545 (GRCm39) C616* probably null Het
Ncor1 C T 11: 62,221,685 (GRCm39) A946T probably benign Het
Or10al6 C A 17: 38,082,642 (GRCm39) L33M probably damaging Het
Or2t48 T C 11: 58,420,027 (GRCm39) T262A probably benign Het
Pbp2 T C 6: 135,287,104 (GRCm39) Y81C probably benign Het
Plekhh1 C A 12: 79,115,862 (GRCm39) Q802K possibly damaging Het
Pnldc1 A T 17: 13,116,165 (GRCm39) F279Y probably damaging Het
Psmb5 A T 14: 54,855,261 (GRCm39) L63Q probably damaging Het
Rasa3 C T 8: 13,636,873 (GRCm39) probably null Het
Rbm4b G A 19: 4,812,219 (GRCm39) M209I probably benign Het
Rnf38 A G 4: 44,131,615 (GRCm39) S421P probably benign Het
Sema5a T C 15: 32,562,703 (GRCm39) V238A probably damaging Het
Sesn1 G T 10: 41,779,771 (GRCm39) G402W probably damaging Het
Six4 A G 12: 73,159,180 (GRCm39) V260A probably benign Het
Srrm2 G A 17: 24,038,831 (GRCm39) R1825Q unknown Het
Stat1 G A 1: 52,178,353 (GRCm39) W262* probably null Het
Tcf20 A T 15: 82,739,158 (GRCm39) D764E probably damaging Het
Tgm2 T C 2: 157,962,065 (GRCm39) N585D probably benign Het
Tmf1 A T 6: 97,133,821 (GRCm39) L1039H probably damaging Het
Trak2 A G 1: 58,974,934 (GRCm39) V86A probably benign Het
Ttc39b A G 4: 83,171,247 (GRCm39) I202T probably damaging Het
Vmn1r30 A G 6: 58,412,460 (GRCm39) F124S probably benign Het
Vwa7 T A 17: 35,236,133 (GRCm39) F29Y probably damaging Het
Wdr64 A T 1: 175,559,079 (GRCm39) M281L probably benign Het
Zfand2a C T 5: 139,467,753 (GRCm39) V40M possibly damaging Het
Zfp865 G C 7: 5,034,819 (GRCm39) A935P probably 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
R1721:Adamts20 UTSW 15 94,236,340 (GRCm39) missense probably benign 0.44
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
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'- CGAGTCTTGTCACCGCCG -3'
(R):5'- TACTATTCATAAGCACTGTTCCTAACT -3'

Sequencing Primer
(F):5'- TCCAATAGCTGACTGTGAGC -3'
(R):5'- AGCACTGTTCCTAACTGAATTACC -3'
Posted On 2021-03-08