Incidental Mutation 'R6836:Adamtsl2'
ID 534545
Institutional Source Beutler Lab
Gene Symbol Adamtsl2
Ensembl Gene ENSMUSG00000036040
Gene Name ADAMTS-like 2
Synonyms A930008K15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6836 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 26969391-26998993 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 26971718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000088774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091233]
AlphaFold Q7TSK7
Predicted Effect probably null
Transcript: ENSMUST00000091233
AA Change: M1T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: M1T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 C G 1: 173,291,546 (GRCm39) T317R probably damaging Het
Alox8 T C 11: 69,077,331 (GRCm39) Y473C probably damaging Het
Alox8 T C 11: 69,080,715 (GRCm39) R209G possibly damaging Het
Asb5 A G 8: 55,038,106 (GRCm39) M210V probably benign Het
Atp2c2 T A 8: 120,461,154 (GRCm39) L249Q probably damaging Het
AU018091 T G 7: 3,213,986 (GRCm39) D77A probably damaging Het
Bahcc1 A T 11: 120,162,583 (GRCm39) K294* probably null Het
Baz2b C T 2: 59,747,769 (GRCm39) R1298Q probably damaging Het
Bivm T A 1: 44,182,296 (GRCm39) N501K possibly damaging Het
Bpifb5 T A 2: 154,069,985 (GRCm39) I145N probably benign Het
Casq2 A T 3: 101,994,076 (GRCm39) N41I probably damaging Het
Ccdc18 T C 5: 108,345,833 (GRCm39) L993P probably damaging Het
Cdcp3 A T 7: 130,798,233 (GRCm39) I81F possibly damaging Het
Cfap44 A G 16: 44,224,442 (GRCm39) D50G probably damaging Het
Clca3a2 T A 3: 144,512,144 (GRCm39) I91F probably damaging Het
Crebbp T A 16: 3,997,886 (GRCm39) H66L possibly damaging Het
Cyfip2 T C 11: 46,163,467 (GRCm39) T321A probably benign Het
Dido1 A G 2: 180,304,100 (GRCm39) V1268A probably benign Het
E030030I06Rik A C 10: 22,024,391 (GRCm39) V174G probably damaging Het
Gm20730 G T 6: 43,058,767 (GRCm39) probably null Het
Gm36176 T C 10: 77,682,976 (GRCm39) probably benign Het
Gper1 T A 5: 139,412,435 (GRCm39) M260K probably damaging Het
Igfbp2 T C 1: 72,888,817 (GRCm39) L89P probably damaging Het
Katnal1 T C 5: 148,830,974 (GRCm39) N200S probably damaging Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Klhl20 T A 1: 160,932,976 (GRCm39) E277D probably benign Het
Lingo1 T C 9: 56,527,056 (GRCm39) Y517C probably damaging Het
Lrrk1 C T 7: 65,992,527 (GRCm39) E82K probably benign Het
Mtor T A 4: 148,573,955 (GRCm39) V1275D possibly damaging Het
Ncan C T 8: 70,552,965 (GRCm39) S1089N possibly damaging Het
Notch4 C T 17: 34,805,074 (GRCm39) T1643I probably damaging Het
Or13a25 A C 7: 140,248,093 (GRCm39) I298L possibly damaging Het
Or1i2 A G 10: 78,448,424 (GRCm39) L17P probably damaging Het
Or2y15 A T 11: 49,350,904 (GRCm39) T133S possibly damaging Het
Or4c10 T C 2: 89,760,683 (GRCm39) C177R probably damaging Het
Pcdhgb6 T C 18: 37,876,015 (GRCm39) V241A probably benign Het
Phf11b T A 14: 59,565,572 (GRCm39) T102S possibly damaging Het
Pkd1 T A 17: 24,800,233 (GRCm39) V2998E probably damaging Het
Ppp1r13b T C 12: 111,801,629 (GRCm39) S352G probably benign Het
Ptprh C T 7: 4,554,134 (GRCm39) V778M probably damaging Het
Ptprz1 C T 6: 23,030,664 (GRCm39) Q1008* probably null Het
Ralgapa1 A T 12: 55,651,058 (GRCm39) probably null Het
Rbm20 G A 19: 53,802,500 (GRCm39) G336E probably damaging Het
Sdsl T C 5: 120,600,167 (GRCm39) I77V probably benign Het
Serpina3b G A 12: 104,100,341 (GRCm39) E308K probably benign Het
Sfrp5 G A 19: 42,190,149 (GRCm39) T101I probably damaging Het
Slc2a13 C T 15: 91,205,835 (GRCm39) V451I probably benign Het
Slc6a9 C T 4: 117,725,083 (GRCm39) A559V possibly damaging Het
Spg11 C T 2: 121,890,016 (GRCm39) A2109T probably damaging Het
Stard9 C T 2: 120,530,324 (GRCm39) R2194C probably benign Het
Tfeb T C 17: 48,097,123 (GRCm39) probably null Het
Tiam2 T A 17: 3,464,655 (GRCm39) I128N probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tpr T G 1: 150,312,424 (GRCm39) probably null Het
Traf3ip1 T C 1: 91,448,722 (GRCm39) I456T probably benign Het
Ttll4 T A 1: 74,728,572 (GRCm39) D892E probably damaging Het
Ubr1 T A 2: 120,727,156 (GRCm39) probably null Het
Vmn2r74 T A 7: 85,606,630 (GRCm39) I239F probably benign Het
Wdfy3 C T 5: 102,100,865 (GRCm39) V251M probably damaging Het
Xylb T A 9: 119,220,820 (GRCm39) L531H probably damaging Het
Zfp960 T A 17: 17,308,434 (GRCm39) C383S 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
R1443:Adamtsl2 UTSW 2 26,993,078 (GRCm39) missense possibly damaging 0.89
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
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'- GGCTCAGACTTGGCATTCAC -3'
(R):5'- GCTCAACACCTAGCTGAGAAG -3'

Sequencing Primer
(F):5'- GGGCAGACATCTGTAATTACTTACC -3'
(R):5'- ATACTACTCACGGAAGCC -3'
Posted On 2018-09-12