Phenotypic Mutation 'panda' (pdf version)
Allelepanda
Mutation Type intron
Chromosome15
Coordinate94,224,580 bp (GRCm39)
Base Change G ⇒ T (forward strand)
Gene Adamts20
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 20
Synonym(s) ADAMTS-20, bt
Chromosomal Location 94,166,177-94,329,966 bp (-) (GRCm39)
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]
Accession Number

NCBI RefSeq: NM_177431; MGI: 2660628

MappedYes 
Amino Acid Change
Institutional SourceBeutler Lab
Gene Model not available
AlphaFold P59511
SMART Domains Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449

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
SMART Domains Protein: ENSMUSP00000121696
Gene: ENSMUSG00000022449

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
Predicted Effect probably benign
Meta Mutation Damage Score Not available question?
Is this an essential gene? Probably nonessential (E-score: 0.233) question?
Phenotypic Category Autosomal Recessive
Candidate Explorer Status loading ...
Single pedigree
Linkage Analysis Data
Penetrance Probably greater than 90%, but with variable expressivity. 
Alleles Listed at MGI

All alleles(16) : Spontaneous(11) Chemically induced(5)

Lab Alleles
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Adamts20 APN 15 94292522 missense probably benign
IGL00491:Adamts20 APN 15 94171113 missense possibly damaging 0.89
IGL00502:Adamts20 APN 15 94301278 missense probably damaging 0.99
IGL00672:Adamts20 APN 15 94238986 missense probably damaging 0.99
IGL00840:Adamts20 APN 15 94180363 missense probably damaging 1.00
IGL00909:Adamts20 APN 15 94277694 missense probably damaging 1.00
IGL01101:Adamts20 APN 15 94241923 missense probably damaging 1.00
IGL01137:Adamts20 APN 15 94292492 critical splice donor site probably null
IGL01457:Adamts20 APN 15 94229329 missense probably damaging 0.97
IGL01685:Adamts20 APN 15 94301327 missense possibly damaging 0.81
IGL01949:Adamts20 APN 15 94223987 missense probably benign 0.08
IGL02525:Adamts20 APN 15 94180959 splice site probably null
IGL03088:Adamts20 APN 15 94227795 critical splice donor site probably null
IGL03175:Adamts20 APN 15 94171136 nonsense probably null
belt UTSW 15 94243871 missense probably damaging 1.00
buckeye UTSW 15 94238968 missense probably damaging 1.00
jack_white UTSW 15 unclassified
meowth UTSW 15 94229339 missense probably damaging 1.00
nidoking UTSW 15 94301326 missense probably damaging 1.00
pikachu UTSW 15 94243871 missense probably damaging 1.00
poliwag UTSW 15 94292503 nonsense probably null
splotch2 UTSW 15 94233442 intron probably benign
wash UTSW 15 94245551 nonsense probably null
whitebelly UTSW 15 unclassified
whopper UTSW 15 94245691 missense probably damaging 1.00
R0483:Adamts20 UTSW 15 94251452 missense probably benign 0.00
R0514:Adamts20 UTSW 15 94168257 missense probably damaging 1.00
R0568:Adamts20 UTSW 15 94189594 splice site probably benign
R0730:Adamts20 UTSW 15 94245571 missense probably benign 0.00
R0973:Adamts20 UTSW 15 94184252 missense probably benign 0.00
R1339:Adamts20 UTSW 15 94220777 missense probably benign 0.19
R1721:Adamts20 UTSW 15 94236340 missense probably benign 0.44
R1809:Adamts20 UTSW 15 94238968 missense probably damaging 1.00
R1832:Adamts20 UTSW 15 94184225 missense probably benign 0.00
R1846:Adamts20 UTSW 15 94243871 missense probably damaging 1.00
R1867:Adamts20 UTSW 15 94236340 missense probably benign 0.44
R1875:Adamts20 UTSW 15 94229277 missense probably benign 0.01
R1930:Adamts20 UTSW 15 94301891 missense probably benign 0.03
R1931:Adamts20 UTSW 15 94301891 missense probably benign 0.03
R1932:Adamts20 UTSW 15 94301891 missense probably benign 0.03
R2001:Adamts20 UTSW 15 94245599 missense possibly damaging 0.96
R2116:Adamts20 UTSW 15 94253243 missense probably damaging 1.00
R2162:Adamts20 UTSW 15 94229339 missense probably damaging 1.00
R2350:Adamts20 UTSW 15 94181797 missense probably damaging 1.00
R2887:Adamts20 UTSW 15 94228459 missense probably benign 0.00
R2889:Adamts20 UTSW 15 94228459 missense probably benign 0.00
R2890:Adamts20 UTSW 15 94228459 missense probably benign 0.00
R3109:Adamts20 UTSW 15 94243785 splice site probably benign
R3719:Adamts20 UTSW 15 94259719 missense probably damaging 0.99
R3832:Adamts20 UTSW 15 94229339 missense probably damaging 1.00
R3901:Adamts20 UTSW 15 94226726 missense possibly damaging 0.81
R4398:Adamts20 UTSW 15 94231576 missense possibly damaging 0.93
R4402:Adamts20 UTSW 15 94277827 missense probably benign
R4431:Adamts20 UTSW 15 94241924 missense probably damaging 1.00
R4479:Adamts20 UTSW 15 94301326 missense probably damaging 1.00
R4482:Adamts20 UTSW 15 94243801 missense probably damaging 1.00
R4503:Adamts20 UTSW 15 94277631 missense probably damaging 0.99
R4671:Adamts20 UTSW 15 94301206 missense possibly damaging 0.48
R4700:Adamts20 UTSW 15 94292503 nonsense probably null
R4707:Adamts20 UTSW 15 94231528 missense possibly damaging 0.53
R4725:Adamts20 UTSW 15 94249643 missense probably damaging 0.99
R4771:Adamts20 UTSW 15 94249516 splice site probably null
R4829:Adamts20 UTSW 15 94224277 missense probably benign 0.01
R4937:Adamts20 UTSW 15 94277656 missense probably benign
R4960:Adamts20 UTSW 15 94277655 missense probably benign
R5270:Adamts20 UTSW 15 94180400 missense probably benign 0.00
R5388:Adamts20 UTSW 15 94243659 missense possibly damaging 0.81
R5410:Adamts20 UTSW 15 94179838 missense possibly damaging 0.94
R5453:Adamts20 UTSW 15 94223969 missense possibly damaging 0.69
R5611:Adamts20 UTSW 15 94171161 missense possibly damaging 0.65
R5687:Adamts20 UTSW 15 94223852 missense probably benign 0.36
R5758:Adamts20 UTSW 15 94292531 missense probably benign 0.00
R5801:Adamts20 UTSW 15 94245551 nonsense probably null
R5834:Adamts20 UTSW 15 94251465 missense probably damaging 0.99
R5993:Adamts20 UTSW 15 94236604 missense probably damaging 0.99
R5997:Adamts20 UTSW 15 94277628 missense probably damaging 1.00
R6044:Adamts20 UTSW 15 94180364 missense probably damaging 1.00
R6058:Adamts20 UTSW 15 94227928 nonsense probably null
R6217:Adamts20 UTSW 15 94236596 missense probably benign 0.00
R6283:Adamts20 UTSW 15 94249602 missense probably benign
R6354:Adamts20 UTSW 15 94245691 missense probably damaging 1.00
R6415:Adamts20 UTSW 15 94222540 critical splice donor site probably null
R6419:Adamts20 UTSW 15 94231556 missense possibly damaging 0.84
R6476:Adamts20 UTSW 15 94259691 missense probably benign 0.22
R6485:Adamts20 UTSW 15 94241852 missense probably benign 0.17
R6517:Adamts20 UTSW 15 94180985 splice site probably null
R6675:Adamts20 UTSW 15 94229197 critical splice donor site probably null
R6863:Adamts20 UTSW 15 94277627 nonsense probably null
R7186:Adamts20 UTSW 15 94220689 missense possibly damaging 0.76
R7263:Adamts20 UTSW 15 94220772 missense possibly damaging 0.52
R7441:Adamts20 UTSW 15 94251554 missense probably damaging 1.00
R7519:Adamts20 UTSW 15 94223869 missense possibly damaging 0.64
R7747:Adamts20 UTSW 15 94189468 nonsense probably null
R7770:Adamts20 UTSW 15 94231579 missense probably benign 0.02
R7816:Adamts20 UTSW 15 94220725 missense probably benign 0.00
R7827:Adamts20 UTSW 15 94223814 missense probably damaging 1.00
R7853:Adamts20 UTSW 15 94243871 missense probably damaging 1.00
R7894:Adamts20 UTSW 15 94249641 missense probably damaging 1.00
R7951:Adamts20 UTSW 15 94238947 missense probably damaging 1.00
R8233:Adamts20 UTSW 15 94189533 missense probably benign 0.19
R8458:Adamts20 UTSW 15 94251521 missense probably benign 0.02
R8709:Adamts20 UTSW 15 94238947 missense probably damaging 1.00
R8719:Adamts20 UTSW 15 94241903 missense probably damaging 0.99
R8728:Adamts20 UTSW 15 94229281 missense probably benign 0.00
R8787:Adamts20 UTSW 15 94184294 missense possibly damaging 0.83
R8801:Adamts20 UTSW 15 94258490 missense probably damaging 1.00
R9055:Adamts20 UTSW 15 94181867 missense probably damaging 0.98
R9069:Adamts20 UTSW 15 94236349 missense probably benign 0.00
R9297:Adamts20 UTSW 15 94301321 missense possibly damaging 0.88
R9318:Adamts20 UTSW 15 94301321 missense possibly damaging 0.88
R9362:Adamts20 UTSW 15 94236626 missense possibly damaging 0.86
R9658:Adamts20 UTSW 15 94249626 missense probably damaging 1.00
R9747:Adamts20 UTSW 15 94180943 missense probably damaging 1.00
R9769:Adamts20 UTSW 15 94251459 missense probably damaging 1.00
R9795:Adamts20 UTSW 15 94301180 missense possibly damaging 0.78
Mode of Inheritance Autosomal Recessive
Local Stock Embryos
Repository

none

Last Updated 2021-10-21 7:31 AM by Diantha La Vine
Record Created unknown
Record Posted 2009-02-19
Phenotypic Description

The panda mutation was discovered in ENU-mutagenized mice and causes a splotch2-like appearance with a white spot on the belly that extends across the back to form a belt (Figure 1). 

Nature of Mutation
The panda mutation was mapped to Chromosome 15, and corresponds to a C to A transversion at position 1866 of the Adamts20 transcript, in exon 11 of 39 total exons.
 
1850 CCCTACAGCTCGTGTTCAAGGACATGCGGAGGT
561  -P--Y--S--S--C--S--R--T--C--G--G-
 
The mutated nucleotide is indicated in red lettering, and creates a premature stop codon at codon 566 (normally a serine) deleting 1340 amino acids from the C-terminus of the protein.
Illustration of Mutations in
Gene & Protein
Protein Prediction
The panda mutation results in protein truncation in the first thrombospondin type I (TSP1) repeat of the ADAMTS-20 metalloprotease.  This truncation occurs after the metalloprotease domain, but removes most of the protein (Figure 2).  It is unknown whether normal levels of the altered protein exist in panda mice.
 
Please see the record for splotch2 for more information about Adamts20.
Primers Primers cannot be located by automatic search.
Genotyping
Panda genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide change. This protocol has not been tested.
 
Primers for PCR amplification
Panda (F): 5’- TGTCCCCAGGCCCCAATTATATAGATG -3’
Panda (R): 5’- ACGAGAGGAAGATCTCGGCTGTTC -3’
 
PCR program (use SIGMA JumpStart REDTaq)
1) 94°C             2:00
2) 94°C             0:30
3) 56°C             0:30
4) 72°C             1:00
5) repeat steps (2-4) 29X
6) 72°C             7:00
7) 4°C               ∞
 
Primers for sequencing
Panda_seq (F1): 5’- ACAAGCCATTCCTGTGTGTG -3’
Panda_seq (F2): 5’- CCCAGCAGAGAGAGACTATTTATTG -3’
Panda_seq (R2): 5'- GCTGTTCCATTGGAAGCAC
 
The following sequence of 1455 nucleotides (from Genbank genomic region NC_000081 for linear DNA sequence of Adamts20) is amplified:
 
55441        tgt ccccaggccc caattatata gatgttttca ttgcatatat tttctttctt
55501 aaactttaat agaatgtaat tgaatgtgat aaatggcttt ctccaatcta cgtttcatct
55561 ataagtgaaa cacactgtgg tatagtttga agtgatgtag tgtgacaccc acagctgtat
55621 tctttctcgg gattgttttc attgtttgct gtctttgctg ggtccctgtg ggttcttaga
55681 ttgttcttcc ctagttctgt aaagaattat atatgaattt tggtggggat tgcactaact
55741 agttagattc gtttttggta acatagccat tctcatgata ttaagtctgc caatccagtg
55801 gcagggacgg tctttccatt gtctactgct gtctgttgtt tacttcctca agatcccggc
55861 agctttcatt gtagggattg ttcatctcct cagttatatt tattcatatg tttggggtgc
55921 gtgtgtgtat gtgtgtgtgt gtgtgtgtgt gtgtggtgtg tacacgtgta tatgcttgat
55981 tttatacaca cacacacaca cacacacaca cacacacata tatatatgta acacacacac
56041 acacatatgt aacatatgta tgtcacacac acatatatgt atgtaacagt tgtgatgacc
56101 actgcattat gaaaaacact gctttggagc tagtatgaat aggataaaca cttttcattt
56161 taatctcaaa tattcttttt tgcctttcca atgagaacct gaatttcaaa agcaaagaga
56221 aagaattccg ttctttttgc atcccaccaa cctcaggtac ccagcagaga gagactattt
56281 attgcaagct ggtattacat gcagcctcac tcctgagttg tccttggctt tagataatct
56341 acagatcttc tcctgcccat cttcacgctg cggttgcagt gaccgtgatg ttttaactac
56401 agagacacaa gccattcctg tgtgtgtgct tcttctgttc ctagcactgc caccgtgggc
56461 tgtgtgtgac cagggacatg gagacccgtc ctgtggatgg cgagtgggga ccatggggac
56521 cctacagctc gtgttcaagg acatgcggag gtggaatcaa gagcacagcc cggctctgtg
56581 accggcccga gtacgtcttc ttattcactg taaattaaga ttgcccccaa gcaccagaaa
56641 gtcaaaatcg cttccgctca cttccggagc tgggggtcag tctgcgagtt tcagagattc
56701 ggaatccgcc tggaagaatt tcatttgtag gttcagactt tttaaaaatc taaatttctc
56761 agttagaacg gaggcagcta ttttcttcat actctgtttt ctgcttcagt gtgagtttaa
56821 gaagtgaaag tgaatggtga gtctgtgatg gcaccttcat tttatcgtgc ttccaatgga
56881 acagccgaga tcttcctctc gt
 
PCR primer binding sites are underlined; sequencing primer binding sites are highlighted in gray; the mutated C is shown in red text.
Science Writers Nora G. Smart
Illustrators Diantha La Vine
AuthorsSungyong Won, Philippe Georgel, Bruce Beutler.
Edit History
2011-08-03 4:27 PM (current)
2011-01-07 9:29 AM
2010-11-02 1:22 PM
2010-11-02 1:22 PM
2010-02-03 3:49 PM