Incidental Mutation 'R1443:Adamtsl2'
ID 158625
Institutional Source Beutler Lab
Gene Symbol Adamtsl2
Ensembl Gene ENSMUSG00000036040
Gene Name ADAMTS-like 2
Synonyms A930008K15Rik
MMRRC Submission 039498-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1443 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26969391-26998993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26993078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 703 (C703S)
Ref Sequence ENSEMBL: ENSMUSP00000088774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091233]
AlphaFold Q7TSK7
Predicted Effect possibly damaging
Transcript: ENSMUST00000091233
AA Change: C703S

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: C703S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TSP1 50 106 5.14e-7 SMART
Pfam:ADAM_spacer1 214 331 5.4e-28 PFAM
low complexity region 345 358 N/A INTRINSIC
TSP1 573 629 8.15e-1 SMART
TSP1 631 692 1.85e-2 SMART
TSP1 694 744 4.15e-1 SMART
TSP1 747 796 9.98e-5 SMART
TSP1 803 861 4.95e-2 SMART
TSP1 863 914 2.53e-6 SMART
Pfam:PLAC 922 953 1.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169787
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 85.7%
Validation Efficiency
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) and ADAMTS-like 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. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous null mice die shortly after birth, are cyanotic and exhibit respiratory distress. Severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in the bronchial epithelium is observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,706,056 (GRCm39) M99V possibly damaging Het
Afap1 G T 5: 36,126,005 (GRCm39) K333N probably damaging Het
Aldh3a2 G A 11: 61,155,133 (GRCm39) S137L probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aoc1 A T 6: 48,882,379 (GRCm39) K107M possibly damaging Het
Aoc1l1 A T 6: 48,952,849 (GRCm39) Y258F probably damaging Het
Bltp2 T A 11: 78,153,624 (GRCm39) S56R probably damaging Het
Bmp8a G T 4: 123,210,758 (GRCm39) S252R possibly damaging Het
C7 T C 15: 5,088,901 (GRCm39) I13M probably benign Het
Cblb T A 16: 51,959,974 (GRCm39) D322E possibly damaging Het
Cfap54 G A 10: 92,768,583 (GRCm39) T180I probably damaging Het
Clrn2 C T 5: 45,617,453 (GRCm39) A108V probably damaging Het
Cspg4 T A 9: 56,793,796 (GRCm39) D510E probably damaging Het
Cyp2c40 A T 19: 39,766,415 (GRCm39) N393K possibly damaging Het
Dcaf5 T C 12: 80,410,843 (GRCm39) Y294C probably damaging Het
Dclk3 T A 9: 111,298,088 (GRCm39) M544K probably benign Het
Ell3 A T 2: 121,269,946 (GRCm39) F388I probably damaging Het
Fam78b A G 1: 166,906,329 (GRCm39) I163V probably damaging Het
Gnptab T C 10: 88,269,943 (GRCm39) L882P probably damaging Het
Herc2 A T 7: 55,854,481 (GRCm39) D3802V possibly damaging Het
Hs3st5 A G 10: 36,709,410 (GRCm39) E315G probably benign Het
Idh3b A T 2: 130,125,974 (GRCm39) probably null Het
Lama4 G A 10: 38,949,639 (GRCm39) E911K probably damaging Het
Macf1 A G 4: 123,404,800 (GRCm39) I436T probably damaging Het
Mgam C A 6: 40,736,714 (GRCm39) S871* probably null Het
Mtmr7 A G 8: 41,013,923 (GRCm39) S212P probably damaging Het
Mylk2 A G 2: 152,761,336 (GRCm39) T480A probably damaging Het
Myo3a A T 2: 22,287,437 (GRCm39) N191I probably damaging Het
Nanog C T 6: 122,688,734 (GRCm39) S105F probably damaging Het
Nanos2 A G 7: 18,721,564 (GRCm39) Y12C probably damaging Het
Nsg1 C T 5: 38,312,987 (GRCm39) V71I probably benign Het
Or10g3 A T 14: 52,610,408 (GRCm39) I34N probably damaging Het
Or13a1 T C 6: 116,471,386 (GRCm39) L272S probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or51a42 A T 7: 103,707,930 (GRCm39) I293N probably damaging Het
Or5b105 G T 19: 13,080,568 (GRCm39) Y33* probably null Het
Pcdhb17 A G 18: 37,619,701 (GRCm39) Q497R probably benign Het
Pcsk7 C A 9: 45,837,284 (GRCm39) P536Q probably damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Phyhip A G 14: 70,704,731 (GRCm39) K317E probably damaging Het
Pkhd1 C T 1: 20,604,782 (GRCm39) G1178R probably damaging Het
Ppp1r9a G A 6: 5,057,557 (GRCm39) G544D probably damaging Het
Ptpn3 T C 4: 57,225,775 (GRCm39) D480G probably benign Het
Ptprn2 A T 12: 117,217,235 (GRCm39) K918N probably damaging Het
Rab42 T C 4: 132,029,658 (GRCm39) D188G probably benign Het
Rasgrf2 C A 13: 92,131,795 (GRCm39) D20Y probably damaging Het
Ryr2 G A 13: 11,794,152 (GRCm39) T942I probably benign Het
Sbpl T C 17: 24,172,328 (GRCm39) K197R unknown Het
Slc44a1 T A 4: 53,561,069 (GRCm39) V595E probably damaging Het
Slc6a19 A G 13: 73,832,463 (GRCm39) M410T probably damaging Het
Sntb1 A T 15: 55,511,351 (GRCm39) L411H probably damaging Het
Synj2 A G 17: 6,073,940 (GRCm39) K245E probably damaging Het
Tasor2 T C 13: 3,625,543 (GRCm39) K1469R probably benign Het
Tmem131 G A 1: 36,864,559 (GRCm39) T558I probably damaging Het
Tnrc18 A T 5: 142,757,288 (GRCm39) S1078T unknown Het
Trmu T A 15: 85,781,302 (GRCm39) probably null Het
Ttn A T 2: 76,721,430 (GRCm39) probably benign Het
Tyw3 T C 3: 154,293,160 (GRCm39) T172A probably benign Het
Vldlr T C 19: 27,217,121 (GRCm39) I348T possibly damaging Het
Zfp114 A G 7: 23,877,194 (GRCm39) D12G probably damaging Het
Other mutations in Adamtsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Adamtsl2 APN 2 26,975,100 (GRCm39) missense probably damaging 1.00
IGL01902:Adamtsl2 APN 2 26,977,264 (GRCm39) missense probably damaging 1.00
IGL02207:Adamtsl2 APN 2 26,992,993 (GRCm39) missense probably damaging 0.99
IGL02247:Adamtsl2 APN 2 26,974,905 (GRCm39) missense probably damaging 1.00
IGL02253:Adamtsl2 APN 2 26,988,709 (GRCm39) missense possibly damaging 0.48
IGL02655:Adamtsl2 APN 2 26,972,542 (GRCm39) splice site probably benign
IGL03148:Adamtsl2 APN 2 26,974,071 (GRCm39) missense probably damaging 0.99
IGL03269:Adamtsl2 APN 2 26,998,367 (GRCm39) nonsense probably null
R0609:Adamtsl2 UTSW 2 26,979,647 (GRCm39) missense probably benign 0.25
R1183:Adamtsl2 UTSW 2 26,974,092 (GRCm39) missense probably damaging 1.00
R1675:Adamtsl2 UTSW 2 26,972,497 (GRCm39) frame shift probably null
R1698:Adamtsl2 UTSW 2 26,993,139 (GRCm39) missense possibly damaging 0.92
R1765:Adamtsl2 UTSW 2 26,992,842 (GRCm39) missense probably benign 0.01
R1934:Adamtsl2 UTSW 2 26,979,605 (GRCm39) missense probably damaging 0.99
R2106:Adamtsl2 UTSW 2 26,992,837 (GRCm39) missense probably benign 0.02
R2108:Adamtsl2 UTSW 2 26,985,570 (GRCm39) missense probably benign
R2189:Adamtsl2 UTSW 2 26,971,750 (GRCm39) missense probably benign 0.00
R2232:Adamtsl2 UTSW 2 26,993,190 (GRCm39) missense probably damaging 1.00
R4301:Adamtsl2 UTSW 2 26,977,295 (GRCm39) missense probably null 1.00
R4518:Adamtsl2 UTSW 2 26,985,559 (GRCm39) missense probably benign 0.00
R4572:Adamtsl2 UTSW 2 26,973,268 (GRCm39) missense probably damaging 0.99
R4627:Adamtsl2 UTSW 2 26,983,597 (GRCm39) missense probably damaging 0.99
R4668:Adamtsl2 UTSW 2 26,985,487 (GRCm39) missense probably benign 0.00
R4686:Adamtsl2 UTSW 2 26,983,837 (GRCm39) missense probably damaging 0.99
R4821:Adamtsl2 UTSW 2 26,988,604 (GRCm39) splice site probably null
R5054:Adamtsl2 UTSW 2 26,991,732 (GRCm39) missense probably damaging 1.00
R5460:Adamtsl2 UTSW 2 26,985,410 (GRCm39) splice site probably null
R5569:Adamtsl2 UTSW 2 26,992,845 (GRCm39) missense probably damaging 1.00
R5694:Adamtsl2 UTSW 2 26,971,736 (GRCm39) missense probably benign 0.03
R6836:Adamtsl2 UTSW 2 26,971,718 (GRCm39) start codon destroyed probably null 0.90
R7103:Adamtsl2 UTSW 2 26,997,473 (GRCm39) missense probably damaging 1.00
R7437:Adamtsl2 UTSW 2 26,979,721 (GRCm39) missense probably damaging 0.99
R8089:Adamtsl2 UTSW 2 26,994,809 (GRCm39) missense probably benign 0.00
R8389:Adamtsl2 UTSW 2 26,993,136 (GRCm39) missense possibly damaging 0.71
R9284:Adamtsl2 UTSW 2 26,994,055 (GRCm39) splice site probably benign
R9566:Adamtsl2 UTSW 2 26,979,773 (GRCm39) critical splice donor site probably null
R9772:Adamtsl2 UTSW 2 26,985,666 (GRCm39) missense probably benign
X0003:Adamtsl2 UTSW 2 26,971,785 (GRCm39) small deletion probably benign
X0003:Adamtsl2 UTSW 2 26,971,784 (GRCm39) small deletion probably benign
Z1176:Adamtsl2 UTSW 2 26,971,732 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTGTACAGTGACCTCTGTGAAGCC -3'
(R):5'- GTTTGAGTCCCTACACGAGTGGAAG -3'

Sequencing Primer
(F):5'- TCTGTGAAGCCACGGAGG -3'
(R):5'- TTACAGAAATAGCTAGGCCCGTATC -3'
Posted On 2014-03-14