Incidental Mutation 'R5687:Adamts20'
ID 443459
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 043320-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R5687 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 94166177-94329966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94223852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1292 (D1292V)
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: D1292V

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: D1292V

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: D1292V

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121696
Gene: ENSMUSG00000022449
AA Change: D1292V

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (72/73)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A T 13: 68,768,938 (GRCm39) C1063* probably null Het
Adcy2 A T 13: 68,790,688 (GRCm39) V892D probably damaging Het
Agtpbp1 T C 13: 59,648,329 (GRCm39) D497G probably benign Het
Anks1b A C 10: 90,750,573 (GRCm39) I195L probably benign Het
Asmt G T X: 169,111,749 (GRCm39) S377I unknown Het
C1s1 T A 6: 124,517,909 (GRCm39) T24S probably benign Het
Ccdc85a A T 11: 28,342,854 (GRCm39) probably benign Het
Ccndbp1 T C 2: 120,845,183 (GRCm39) probably benign Het
Cct8 T C 16: 87,285,709 (GRCm39) I250V probably benign Het
Cmya5 T C 13: 93,234,684 (GRCm39) T135A possibly damaging Het
Col11a1 T C 3: 114,010,752 (GRCm39) probably benign Het
Crybg3 A G 16: 59,379,529 (GRCm39) M575T probably benign Het
Dmp1 C T 5: 104,354,952 (GRCm39) probably benign Het
Emc1 G T 4: 139,102,691 (GRCm39) R950L probably damaging Het
Enpep T C 3: 129,092,743 (GRCm39) probably null Het
Eya1 G A 1: 14,253,476 (GRCm39) T500I probably damaging Het
Fam169a T C 13: 97,230,126 (GRCm39) F54L probably damaging Het
Fbxo8 A G 8: 57,044,552 (GRCm39) K285R probably damaging Het
Galnt1 A T 18: 24,405,807 (GRCm39) E416D probably benign Het
Gcc1 T A 6: 28,419,232 (GRCm39) probably null Het
Gm10800 T A 2: 98,496,965 (GRCm39) Y196F probably benign Het
Gmpr T A 13: 45,692,496 (GRCm39) probably null Het
Jrkl C T 9: 13,244,387 (GRCm39) E425K probably benign Het
Kl T G 5: 150,911,931 (GRCm39) I560S possibly damaging Het
Kyat3 C A 3: 142,440,343 (GRCm39) R356S probably null Het
Lrig2 C T 3: 104,371,388 (GRCm39) probably null Het
Lrrc47 A G 4: 154,100,140 (GRCm39) T239A probably benign Het
Map4k2 T C 19: 6,395,672 (GRCm39) probably benign Het
Mon2 A G 10: 122,844,144 (GRCm39) S1469P probably damaging Het
Mthfd1l G A 10: 3,940,002 (GRCm39) probably null Het
Mvk G T 5: 114,588,826 (GRCm39) G144V probably damaging Het
Nasp T A 4: 116,463,002 (GRCm39) probably benign Het
Ndst4 A C 3: 125,232,258 (GRCm39) N276H possibly damaging Het
Nsmf C T 2: 24,946,079 (GRCm39) P189S probably damaging Het
Nt5m T G 11: 59,743,649 (GRCm39) D92E probably benign Het
Or10g6 T G 9: 39,933,731 (GRCm39) L14R probably damaging Het
Or4k39 T C 2: 111,239,033 (GRCm39) noncoding transcript Het
Or4p23 A T 2: 88,577,094 (GRCm39) I46N probably damaging Het
Pan3 T A 5: 147,391,982 (GRCm39) I119N probably damaging Het
Pard6b A T 2: 167,940,546 (GRCm39) S178C probably damaging Het
Parl A G 16: 20,106,728 (GRCm39) probably benign Het
Pdk2 A G 11: 94,919,851 (GRCm39) probably benign Het
Prag1 A G 8: 36,613,967 (GRCm39) E1173G probably benign Het
Prph2 T A 17: 47,234,391 (GRCm39) L320Q probably damaging Het
Psmd3 T C 11: 98,584,495 (GRCm39) I200T probably damaging Het
Rhbdd3 T A 11: 5,055,707 (GRCm39) S324T probably damaging Het
Rps6-ps2 A T 8: 89,533,112 (GRCm39) noncoding transcript Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Samd4 A G 14: 47,254,022 (GRCm39) N61S probably benign Het
Sfrp2 G A 3: 83,674,146 (GRCm39) A100T probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc6a13 A G 6: 121,279,700 (GRCm39) T25A probably benign Het
Sntg1 C A 1: 8,533,667 (GRCm39) R329L possibly damaging Het
Sorbs2 T C 8: 46,228,669 (GRCm39) F285L probably damaging Het
Speg T C 1: 75,395,773 (GRCm39) probably null Het
Srgap1 T C 10: 121,661,541 (GRCm39) Y533C probably damaging Het
Supt5 C A 7: 28,017,188 (GRCm39) S668I probably benign Het
Taf6l T G 19: 8,750,676 (GRCm39) I133L probably benign Het
Thrap3 G A 4: 126,074,279 (GRCm39) probably benign Het
Tmem115 A G 9: 107,412,054 (GRCm39) N126S probably benign Het
Trgc1 A T 13: 19,400,729 (GRCm39) I153F unknown Het
Tspoap1 T A 11: 87,667,952 (GRCm39) I1192N probably damaging Het
Vcan T C 13: 89,826,253 (GRCm39) I3184V probably damaging Het
Yeats4 G A 10: 117,051,585 (GRCm39) T224M probably benign Het
Zc3h13 A T 14: 75,569,400 (GRCm39) R1416* probably null Het
Zmynd12 T A 4: 119,299,098 (GRCm39) Y193N 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
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'- AAATGCTCCAGCCTTTGCAG -3'
(R):5'- TGTTTTATGCGTGAACTACCAC -3'

Sequencing Primer
(F):5'- AGCCTTTGCAGAGCTGAG -3'
(R):5'- CCAACTGGTCGATGAGAGTTACTG -3'
Posted On 2016-11-09