Incidental Mutation 'R0141:Adamts9'
ID 22313
Institutional Source Beutler Lab
Gene Symbol Adamts9
Ensembl Gene ENSMUSG00000030022
Gene Name a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 9
Synonyms 8430403M15Rik, E030027K14Rik, 1810011L16Rik
MMRRC Submission 038426-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0141 (G1)
Quality Score 178
Status Not validated
Chromosome 6
Chromosomal Location 92772699-92943492 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92943085 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 24 (D24G)
Ref Sequence ENSEMBL: ENSMUSP00000109065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113438]
AlphaFold E9PUN6
Predicted Effect probably benign
Transcript: ENSMUST00000113438
AA Change: D24G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
AA Change: D24G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Pep_M12B_propep 49 207 1.8e-37 PFAM
low complexity region 234 247 N/A INTRINSIC
Pfam:Reprolysin_5 291 476 7.6e-17 PFAM
Pfam:Reprolysin_4 291 495 2e-11 PFAM
Pfam:Reprolysin 293 499 7.4e-29 PFAM
Pfam:Reprolysin_2 310 489 1e-13 PFAM
Pfam:Reprolysin_3 314 445 1.7e-14 PFAM
TSP1 591 643 2.15e-9 SMART
Pfam:ADAM_spacer1 753 871 7.3e-35 PFAM
TSP1 881 936 1.14e0 SMART
Blast:TSP1 938 993 2e-28 BLAST
TSP1 1000 1054 3.78e-5 SMART
TSP1 1055 1109 5.64e-4 SMART
TSP1 1110 1166 1.25e-5 SMART
TSP1 1186 1240 1.45e-6 SMART
TSP1 1242 1296 4.41e-6 SMART
TSP1 1328 1380 7.06e-5 SMART
TSP1 1381 1436 4.24e-8 SMART
TSP1 1440 1495 8.23e-6 SMART
TSP1 1496 1551 1.23e-4 SMART
TSP1 1552 1609 2e-4 SMART
TSP1 1611 1672 1.25e-5 SMART
TSP1 1676 1730 3.47e-4 SMART
Pfam:GON 1732 1930 1.6e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205093
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.9%
Validation Efficiency 88% (50/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A T 1: 26,683,782 (GRCm38) N772K probably benign Het
Acot12 A C 13: 91,771,828 (GRCm38) D294A probably benign Het
Ahnak G A 19: 9,006,680 (GRCm38) G1776D probably damaging Het
Arfgef3 C A 10: 18,597,407 (GRCm38) C1636F probably damaging Het
AW551984 A G 9: 39,590,644 (GRCm38) L722P probably damaging Het
Ccndbp1 T A 2: 121,012,422 (GRCm38) M188K probably damaging Het
Col27a1 A T 4: 63,265,633 (GRCm38) probably null Het
Cpt1c A G 7: 44,966,671 (GRCm38) Y306H probably damaging Het
Cyp3a57 A G 5: 145,362,102 (GRCm38) I71V probably benign Het
Def8 G A 8: 123,456,495 (GRCm38) A278T probably damaging Het
Dmrt2 A T 19: 25,678,291 (GRCm38) Q418L possibly damaging Het
Ebf1 T C 11: 44,908,000 (GRCm38) L284S probably damaging Het
Fam131a G A 16: 20,698,988 (GRCm38) A15T probably benign Het
Fbxo17 A G 7: 28,733,491 (GRCm38) T146A possibly damaging Het
Fer1l6 A G 15: 58,558,402 (GRCm38) E226G probably damaging Het
Galnt18 A T 7: 111,599,031 (GRCm38) I174N probably damaging Het
Gm13088 T C 4: 143,654,568 (GRCm38) Y295C probably benign Het
Gm44501 T C 17: 40,578,853 (GRCm38) I86T probably benign Het
Gm884 A C 11: 103,613,686 (GRCm38) I2485M probably damaging Het
Gtsf1l T C 2: 163,087,326 (GRCm38) Q79R probably benign Het
Hapln4 T C 8: 70,088,280 (GRCm38) L321P probably damaging Het
Herc2 A G 7: 56,121,561 (GRCm38) T1024A probably benign Het
Hps5 A G 7: 46,789,181 (GRCm38) S43P probably damaging Het
Igsf10 A G 3: 59,330,832 (GRCm38) Y643H probably damaging Het
Lama4 G A 10: 39,092,278 (GRCm38) R1472H probably benign Het
Lhx9 A G 1: 138,840,006 (GRCm38) Y73H possibly damaging Het
Loxl1 T A 9: 58,312,132 (GRCm38) Q252L probably damaging Het
Nfat5 C T 8: 107,339,075 (GRCm38) R156W probably damaging Het
Nr3c2 T A 8: 76,908,408 (GRCm38) V46D probably damaging Het
Olfr1283 T A 2: 111,369,490 (GRCm38) I286N probably damaging Het
Olfr152 C G 2: 87,782,705 (GRCm38) P55R possibly damaging Het
Olfr487 A C 7: 108,212,003 (GRCm38) N175K possibly damaging Het
Olfr495 A T 7: 108,395,368 (GRCm38) N83Y probably benign Het
Olfr749 T C 14: 50,736,383 (GRCm38) S260G possibly damaging Het
Osbp T C 19: 11,973,859 (GRCm38) V256A possibly damaging Het
Pclo A T 5: 14,791,922 (GRCm38) D4737V unknown Het
Pkdrej A G 15: 85,815,630 (GRCm38) I2035T probably damaging Het
Plek2 A G 12: 78,894,504 (GRCm38) S185P probably damaging Het
Pnpla6 G T 8: 3,532,117 (GRCm38) probably null Het
Pou3f2 T C 4: 22,487,210 (GRCm38) T308A possibly damaging Het
Pxmp4 A G 2: 154,592,295 (GRCm38) V82A probably damaging Het
Rnf6 A T 5: 146,211,835 (GRCm38) N135K possibly damaging Het
Rtl1 A G 12: 109,592,948 (GRCm38) V819A probably damaging Het
Scn1a C A 2: 66,289,062 (GRCm38) V1355L probably damaging Het
Scn2a T A 2: 65,711,816 (GRCm38) N754K probably benign Het
Serpina3b A T 12: 104,130,771 (GRCm38) N104Y probably damaging Het
Sh3rf2 T C 18: 42,156,057 (GRCm38) S648P probably benign Het
Slc17a6 G A 7: 51,669,067 (GRCm38) V486I probably benign Het
Syne2 T G 12: 75,941,298 (GRCm38) D1743E probably damaging Het
Tex14 T G 11: 87,493,031 (GRCm38) probably null Het
Tfb1m T C 17: 3,554,957 (GRCm38) D87G probably damaging Het
Tll2 C T 19: 41,097,912 (GRCm38) G609S probably damaging Het
Tsc22d2 A T 3: 58,417,156 (GRCm38) probably benign Het
Tsen2 A G 6: 115,568,829 (GRCm38) D360G probably damaging Het
Ugt2b37 G A 5: 87,240,983 (GRCm38) P457L probably damaging Het
Vmn1r68 T C 7: 10,527,325 (GRCm38) N282S possibly damaging Het
Vmn2r58 G A 7: 41,861,885 (GRCm38) S498F probably benign Het
Zfp959 T C 17: 55,898,139 (GRCm38) I392T probably benign Het
Other mutations in Adamts9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Adamts9 APN 6 92,859,902 (GRCm38) missense possibly damaging 0.90
IGL01352:Adamts9 APN 6 92,860,174 (GRCm38) missense probably benign 0.00
IGL01462:Adamts9 APN 6 92,894,266 (GRCm38) missense probably benign 0.04
IGL01551:Adamts9 APN 6 92,807,020 (GRCm38) missense probably damaging 0.99
IGL01577:Adamts9 APN 6 92,858,147 (GRCm38) splice site probably benign
IGL01638:Adamts9 APN 6 92,872,428 (GRCm38) missense probably benign 0.19
IGL01757:Adamts9 APN 6 92,796,159 (GRCm38) missense probably damaging 1.00
IGL02102:Adamts9 APN 6 92,777,439 (GRCm38) missense probably benign 0.00
IGL02379:Adamts9 APN 6 92,797,033 (GRCm38) missense probably damaging 0.97
IGL02419:Adamts9 APN 6 92,796,997 (GRCm38) missense probably benign 0.04
IGL02554:Adamts9 APN 6 92,880,847 (GRCm38) missense probably benign 0.01
IGL02832:Adamts9 APN 6 92,807,175 (GRCm38) missense probably damaging 1.00
IGL03164:Adamts9 APN 6 92,889,937 (GRCm38) missense probably damaging 1.00
IGL03347:Adamts9 APN 6 92,887,432 (GRCm38) nonsense probably null
IGL03401:Adamts9 APN 6 92,786,868 (GRCm38) missense probably damaging 0.97
basilisk UTSW 6 92,860,189 (GRCm38) missense probably benign 0.35
bluebeard UTSW 6 92,879,959 (GRCm38) nonsense probably null
Serpent UTSW 6 92,908,706 (GRCm38) missense probably damaging 1.00
PIT4402001:Adamts9 UTSW 6 92,872,347 (GRCm38) missense probably benign
PIT4458001:Adamts9 UTSW 6 92,889,905 (GRCm38) missense probably damaging 0.99
R0047:Adamts9 UTSW 6 92,905,306 (GRCm38) unclassified probably benign
R0047:Adamts9 UTSW 6 92,905,306 (GRCm38) unclassified probably benign
R0067:Adamts9 UTSW 6 92,890,167 (GRCm38) missense probably damaging 0.98
R0326:Adamts9 UTSW 6 92,858,057 (GRCm38) nonsense probably null
R0396:Adamts9 UTSW 6 92,798,005 (GRCm38) missense probably benign 0.00
R0490:Adamts9 UTSW 6 92,872,866 (GRCm38) missense probably benign
R0504:Adamts9 UTSW 6 92,912,645 (GRCm38) missense probably damaging 1.00
R0620:Adamts9 UTSW 6 92,858,113 (GRCm38) missense possibly damaging 0.95
R0669:Adamts9 UTSW 6 92,880,957 (GRCm38) missense probably damaging 1.00
R0682:Adamts9 UTSW 6 92,903,802 (GRCm38) missense possibly damaging 0.80
R1412:Adamts9 UTSW 6 92,796,433 (GRCm38) missense probably benign
R1433:Adamts9 UTSW 6 92,849,290 (GRCm38) critical splice donor site probably null
R1558:Adamts9 UTSW 6 92,908,711 (GRCm38) missense possibly damaging 0.87
R1661:Adamts9 UTSW 6 92,880,623 (GRCm38) missense possibly damaging 0.92
R1801:Adamts9 UTSW 6 92,863,376 (GRCm38) missense probably benign 0.27
R1855:Adamts9 UTSW 6 92,901,369 (GRCm38) splice site probably benign
R1887:Adamts9 UTSW 6 92,872,788 (GRCm38) critical splice donor site probably null
R1934:Adamts9 UTSW 6 92,943,121 (GRCm38) missense possibly damaging 0.59
R1956:Adamts9 UTSW 6 92,859,849 (GRCm38) missense probably damaging 1.00
R1986:Adamts9 UTSW 6 92,796,394 (GRCm38) missense probably benign
R2370:Adamts9 UTSW 6 92,860,203 (GRCm38) missense probably damaging 0.99
R2376:Adamts9 UTSW 6 92,912,831 (GRCm38) missense probably benign
R2432:Adamts9 UTSW 6 92,857,900 (GRCm38) missense probably damaging 1.00
R2876:Adamts9 UTSW 6 92,795,910 (GRCm38) splice site probably benign
R3015:Adamts9 UTSW 6 92,872,932 (GRCm38) missense probably benign 0.05
R3611:Adamts9 UTSW 6 92,869,984 (GRCm38) missense probably benign 0.05
R4024:Adamts9 UTSW 6 92,872,784 (GRCm38) splice site probably benign
R4292:Adamts9 UTSW 6 92,795,996 (GRCm38) missense possibly damaging 0.95
R4403:Adamts9 UTSW 6 92,859,864 (GRCm38) missense probably damaging 1.00
R4574:Adamts9 UTSW 6 92,879,959 (GRCm38) nonsense probably null
R4677:Adamts9 UTSW 6 92,816,606 (GRCm38) start codon destroyed probably null
R5114:Adamts9 UTSW 6 92,890,273 (GRCm38) missense probably benign 0.03
R5260:Adamts9 UTSW 6 92,807,137 (GRCm38) missense probably benign 0.00
R5384:Adamts9 UTSW 6 92,798,018 (GRCm38) missense probably damaging 1.00
R5423:Adamts9 UTSW 6 92,880,697 (GRCm38) missense possibly damaging 0.84
R5497:Adamts9 UTSW 6 92,854,365 (GRCm38) missense probably damaging 1.00
R5629:Adamts9 UTSW 6 92,798,133 (GRCm38) missense probably damaging 1.00
R5943:Adamts9 UTSW 6 92,903,786 (GRCm38) missense probably benign 0.02
R6039:Adamts9 UTSW 6 92,908,546 (GRCm38) missense possibly damaging 0.95
R6039:Adamts9 UTSW 6 92,908,546 (GRCm38) missense possibly damaging 0.95
R6051:Adamts9 UTSW 6 92,890,118 (GRCm38) missense probably damaging 1.00
R6051:Adamts9 UTSW 6 92,859,926 (GRCm38) missense possibly damaging 0.83
R6082:Adamts9 UTSW 6 92,889,949 (GRCm38) missense probably damaging 1.00
R6192:Adamts9 UTSW 6 92,797,021 (GRCm38) missense probably damaging 1.00
R6291:Adamts9 UTSW 6 92,890,120 (GRCm38) missense probably damaging 1.00
R6502:Adamts9 UTSW 6 92,872,335 (GRCm38) missense probably damaging 1.00
R6818:Adamts9 UTSW 6 92,905,191 (GRCm38) missense probably damaging 1.00
R6848:Adamts9 UTSW 6 92,863,354 (GRCm38) missense possibly damaging 0.84
R7028:Adamts9 UTSW 6 92,909,793 (GRCm38) nonsense probably null
R7095:Adamts9 UTSW 6 92,887,691 (GRCm38) missense probably benign 0.39
R7287:Adamts9 UTSW 6 92,890,003 (GRCm38) missense possibly damaging 0.89
R7294:Adamts9 UTSW 6 92,894,289 (GRCm38) missense probably damaging 1.00
R7313:Adamts9 UTSW 6 92,858,121 (GRCm38) missense probably damaging 1.00
R7581:Adamts9 UTSW 6 92,937,338 (GRCm38) missense probably benign 0.00
R7682:Adamts9 UTSW 6 92,880,698 (GRCm38) missense possibly damaging 0.57
R7691:Adamts9 UTSW 6 92,796,238 (GRCm38) missense probably damaging 1.00
R7791:Adamts9 UTSW 6 92,872,385 (GRCm38) missense probably benign 0.00
R7851:Adamts9 UTSW 6 92,908,706 (GRCm38) missense probably damaging 1.00
R7974:Adamts9 UTSW 6 92,909,687 (GRCm38) critical splice donor site probably null
R8224:Adamts9 UTSW 6 92,796,370 (GRCm38) missense probably damaging 0.96
R8328:Adamts9 UTSW 6 92,890,012 (GRCm38) missense probably benign 0.17
R8334:Adamts9 UTSW 6 92,937,244 (GRCm38) splice site probably null
R8559:Adamts9 UTSW 6 92,807,136 (GRCm38) missense probably benign 0.01
R8709:Adamts9 UTSW 6 92,807,163 (GRCm38) missense probably damaging 1.00
R8735:Adamts9 UTSW 6 92,860,067 (GRCm38) intron probably benign
R8739:Adamts9 UTSW 6 92,854,280 (GRCm38) missense probably benign 0.04
R9108:Adamts9 UTSW 6 92,880,740 (GRCm38) missense probably damaging 1.00
R9171:Adamts9 UTSW 6 92,872,400 (GRCm38) missense probably benign 0.03
R9198:Adamts9 UTSW 6 92,860,189 (GRCm38) missense probably benign 0.35
R9299:Adamts9 UTSW 6 92,796,995 (GRCm38) missense probably benign 0.00
R9300:Adamts9 UTSW 6 92,887,390 (GRCm38) missense probably benign 0.10
R9308:Adamts9 UTSW 6 92,880,894 (GRCm38) missense probably benign 0.03
R9325:Adamts9 UTSW 6 92,872,298 (GRCm38) missense probably benign 0.00
R9397:Adamts9 UTSW 6 92,901,463 (GRCm38) missense probably damaging 1.00
R9550:Adamts9 UTSW 6 92,901,448 (GRCm38) missense probably benign 0.00
R9623:Adamts9 UTSW 6 92,880,680 (GRCm38) missense probably benign 0.02
R9698:Adamts9 UTSW 6 92,807,140 (GRCm38) missense probably damaging 1.00
R9755:Adamts9 UTSW 6 92,879,941 (GRCm38) missense probably benign 0.15
RF013:Adamts9 UTSW 6 92,943,145 (GRCm38) missense possibly damaging 0.88
Z1177:Adamts9 UTSW 6 92,854,346 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCCTAAAATTCTTGCAGTGCTTCC -3'
(R):5'- TCGGCTAACTCAGCCAGCAAAG -3'

Sequencing Primer
(F):5'- GTTGACTAAGGATGACCCAGAG -3'
(R):5'- CTCCTAAAGTCAAAAAGTTGGCG -3'
Posted On 2013-04-16