Incidental Mutation 'R5734:Adamts2'
ID 451599
Institutional Source Beutler Lab
Gene Symbol Adamts2
Ensembl Gene ENSMUSG00000036545
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 2
Synonyms a disintegrin and metalloproteinase with thrombospondin repeats, hPCPNI, ADAM-TS2, procollagen N-proteinase
MMRRC Submission 043348-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5734 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50492912-50698400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50679494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 825 (G825R)
Ref Sequence ENSEMBL: ENSMUSP00000040171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040523]
AlphaFold Q8C9W3
Predicted Effect probably damaging
Transcript: ENSMUST00000040523
AA Change: G825R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: G825R

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 44 52 N/A INTRINSIC
Pfam:Pep_M12B_propep 56 211 2.6e-39 PFAM
low complexity region 214 225 N/A INTRINSIC
coiled coil region 236 260 N/A INTRINSIC
Pfam:Reprolysin_5 265 450 1.4e-15 PFAM
Pfam:Reprolysin_4 267 464 7.1e-11 PFAM
Pfam:Reprolysin 268 471 2.4e-20 PFAM
Pfam:Reprolysin_2 285 463 9.1e-14 PFAM
Pfam:Reprolysin_3 289 420 8.7e-13 PFAM
TSP1 565 617 9.73e-17 SMART
Pfam:ADAM_spacer1 724 838 5.1e-33 PFAM
low complexity region 839 853 N/A INTRINSIC
TSP1 858 915 1.05e-3 SMART
TSP1 918 977 2.78e-3 SMART
TSP1 980 1030 4.99e-5 SMART
Meta Mutation Damage Score 0.4205 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin repeats) family of proteinases that is involved in the proteolytic processing of procollagens. The encoded protein precursor is proteolytically processed to generate a mature, zinc-dependent enzyme. Mice lacking the encoded protein develop abnormal lungs, fragile skin and male sterility. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A G 9: 46,215,303 (GRCm39) probably benign Het
Abcc9 A G 6: 142,571,457 (GRCm39) probably benign Het
Adgre1 A T 17: 57,750,990 (GRCm39) R555W probably benign Het
Apob T A 12: 8,038,781 (GRCm39) V398D probably damaging Het
Arid4b A G 13: 14,334,856 (GRCm39) N355S probably benign Het
Asb3 G T 11: 30,979,021 (GRCm39) D143Y probably damaging Het
Birc6 G A 17: 74,925,419 (GRCm39) probably benign Het
Cacna1a A G 8: 85,310,360 (GRCm39) M1425V probably damaging Het
Capn9 A G 8: 125,332,583 (GRCm39) E474G probably damaging Het
Capza2 T C 6: 17,660,764 (GRCm39) S155P probably damaging Het
Ccdc125 A G 13: 100,823,622 (GRCm39) N202S possibly damaging Het
Ccn1 A G 3: 145,354,023 (GRCm39) C256R probably damaging Het
Chrm5 T A 2: 112,310,445 (GRCm39) T224S probably benign Het
Chtop C T 3: 90,409,422 (GRCm39) probably null Het
Clip1 T C 5: 123,753,217 (GRCm39) probably benign Het
Dbx2 T C 15: 95,552,604 (GRCm39) T14A possibly damaging Het
Dcaf8 T C 1: 172,000,478 (GRCm39) V212A possibly damaging Het
Fam114a1 T C 5: 65,166,389 (GRCm39) M240T probably damaging Het
Fat1 T C 8: 45,504,246 (GRCm39) Y4580H probably damaging Het
Glipr1 G A 10: 111,821,698 (GRCm39) R200* probably null Het
Gm6408 A T 5: 146,419,192 (GRCm39) Y69F probably benign Het
Gpt2 T C 8: 86,249,885 (GRCm39) S456P probably benign Het
Kat8 T C 7: 127,519,751 (GRCm39) F225S probably benign Het
Lactb2 T A 1: 13,730,611 (GRCm39) N22Y probably damaging Het
Lin28a A T 4: 133,735,284 (GRCm39) C67* probably null Het
Mtarc2 T C 1: 184,564,786 (GRCm39) E155G probably benign Het
Myoz3 G A 18: 60,712,543 (GRCm39) T104M possibly damaging Het
Nek9 C T 12: 85,350,289 (GRCm39) M928I probably benign Het
Nlrp9a G C 7: 26,270,065 (GRCm39) A831P probably damaging Het
Nop53 T C 7: 15,679,887 (GRCm39) probably null Het
Ofcc1 T A 13: 40,241,325 (GRCm39) T728S probably damaging Het
Pabpc4l T A 3: 46,401,124 (GRCm39) probably null Het
Rbm34 T C 8: 127,696,880 (GRCm39) probably null Het
Relch T C 1: 105,631,608 (GRCm39) probably benign Het
Robo2 C T 16: 74,149,672 (GRCm39) C52Y probably damaging Het
Rpgr G A X: 10,032,511 (GRCm39) P857L probably benign Het
Scn2a A G 2: 65,548,066 (GRCm39) Y57C possibly damaging Het
Selp C T 1: 163,971,460 (GRCm39) probably benign Het
Skp2 T C 15: 9,139,566 (GRCm39) D43G possibly damaging Het
Smad5 T A 13: 56,871,617 (GRCm39) S71T probably damaging Het
Sorcs1 G T 19: 50,171,213 (GRCm39) H892N probably benign Het
Sox6 C T 7: 115,140,856 (GRCm39) probably null Het
St3gal1 A T 15: 66,978,522 (GRCm39) I333N probably damaging Het
Tex15 C A 8: 34,036,364 (GRCm39) Q97K probably benign Het
Tnxb A T 17: 34,917,884 (GRCm39) T2266S possibly damaging Het
Tpbgl C A 7: 99,274,949 (GRCm39) G303C probably damaging Het
Trat1 A T 16: 48,555,304 (GRCm39) S143T possibly damaging Het
Trpm8 T A 1: 88,283,002 (GRCm39) V763E probably benign Het
Ttc21a G A 9: 119,795,732 (GRCm39) D1189N probably benign Het
Usp7 T C 16: 8,519,845 (GRCm39) N178D possibly damaging Het
Zfp217 T C 2: 169,961,064 (GRCm39) D421G possibly damaging Het
Zfp382 T C 7: 29,833,855 (GRCm39) F502S probably damaging Het
Other mutations in Adamts2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Adamts2 APN 11 50,694,528 (GRCm39) missense probably benign 0.00
IGL01366:Adamts2 APN 11 50,687,295 (GRCm39) missense probably damaging 1.00
IGL01412:Adamts2 APN 11 50,686,230 (GRCm39) missense probably benign 0.43
IGL01443:Adamts2 APN 11 50,694,690 (GRCm39) missense possibly damaging 0.54
IGL01974:Adamts2 APN 11 50,667,001 (GRCm39) missense probably damaging 0.99
IGL02267:Adamts2 APN 11 50,683,505 (GRCm39) missense probably benign 0.00
IGL02498:Adamts2 APN 11 50,668,023 (GRCm39) missense probably damaging 1.00
IGL02498:Adamts2 APN 11 50,664,135 (GRCm39) missense possibly damaging 0.81
IGL02626:Adamts2 APN 11 50,667,082 (GRCm39) missense probably damaging 0.99
IGL02634:Adamts2 APN 11 50,683,548 (GRCm39) nonsense probably null
IGL02643:Adamts2 APN 11 50,679,527 (GRCm39) missense probably benign 0.01
IGL02836:Adamts2 APN 11 50,678,106 (GRCm39) missense probably damaging 1.00
IGL03012:Adamts2 APN 11 50,667,096 (GRCm39) splice site probably benign
ANU22:Adamts2 UTSW 11 50,628,190 (GRCm39) missense probably benign 0.06
H8441:Adamts2 UTSW 11 50,675,505 (GRCm39) missense probably damaging 1.00
R0050:Adamts2 UTSW 11 50,666,222 (GRCm39) missense probably damaging 1.00
R0050:Adamts2 UTSW 11 50,666,222 (GRCm39) missense probably damaging 1.00
R0240:Adamts2 UTSW 11 50,666,201 (GRCm39) missense probably damaging 1.00
R0240:Adamts2 UTSW 11 50,666,201 (GRCm39) missense probably damaging 1.00
R0491:Adamts2 UTSW 11 50,667,457 (GRCm39) missense probably damaging 0.98
R0501:Adamts2 UTSW 11 50,558,972 (GRCm39) missense probably benign 0.16
R0570:Adamts2 UTSW 11 50,666,963 (GRCm39) missense probably damaging 1.00
R0588:Adamts2 UTSW 11 50,667,491 (GRCm39) missense probably damaging 1.00
R0647:Adamts2 UTSW 11 50,494,265 (GRCm39) missense probably damaging 1.00
R0760:Adamts2 UTSW 11 50,666,153 (GRCm39) missense probably damaging 1.00
R0784:Adamts2 UTSW 11 50,558,830 (GRCm39) missense probably damaging 1.00
R1163:Adamts2 UTSW 11 50,670,541 (GRCm39) missense probably damaging 1.00
R1623:Adamts2 UTSW 11 50,558,942 (GRCm39) missense possibly damaging 0.79
R1641:Adamts2 UTSW 11 50,683,612 (GRCm39) missense probably damaging 1.00
R1779:Adamts2 UTSW 11 50,647,524 (GRCm39) missense probably damaging 0.99
R2163:Adamts2 UTSW 11 50,679,632 (GRCm39) missense probably benign 0.36
R2177:Adamts2 UTSW 11 50,668,055 (GRCm39) missense probably damaging 0.98
R2508:Adamts2 UTSW 11 50,679,516 (GRCm39) missense possibly damaging 0.82
R3721:Adamts2 UTSW 11 50,664,038 (GRCm39) splice site probably benign
R4092:Adamts2 UTSW 11 50,678,103 (GRCm39) missense probably damaging 0.99
R4691:Adamts2 UTSW 11 50,647,523 (GRCm39) missense probably damaging 1.00
R4785:Adamts2 UTSW 11 50,683,549 (GRCm39) missense probably benign 0.00
R4809:Adamts2 UTSW 11 50,694,517 (GRCm39) missense probably benign 0.17
R4823:Adamts2 UTSW 11 50,628,014 (GRCm39) missense probably benign 0.26
R4927:Adamts2 UTSW 11 50,694,639 (GRCm39) nonsense probably null
R4976:Adamts2 UTSW 11 50,628,193 (GRCm39) missense possibly damaging 0.67
R5118:Adamts2 UTSW 11 50,672,696 (GRCm39) missense probably damaging 0.99
R5478:Adamts2 UTSW 11 50,683,478 (GRCm39) missense possibly damaging 0.83
R5660:Adamts2 UTSW 11 50,667,472 (GRCm39) missense probably damaging 1.00
R5865:Adamts2 UTSW 11 50,694,781 (GRCm39) nonsense probably null
R6079:Adamts2 UTSW 11 50,647,533 (GRCm39) missense probably damaging 1.00
R6138:Adamts2 UTSW 11 50,647,533 (GRCm39) missense probably damaging 1.00
R6257:Adamts2 UTSW 11 50,666,153 (GRCm39) missense probably damaging 1.00
R6540:Adamts2 UTSW 11 50,679,567 (GRCm39) missense possibly damaging 0.77
R6897:Adamts2 UTSW 11 50,627,991 (GRCm39) critical splice acceptor site probably null
R7103:Adamts2 UTSW 11 50,628,181 (GRCm39) missense probably damaging 0.98
R7229:Adamts2 UTSW 11 50,682,647 (GRCm39) missense probably damaging 1.00
R7261:Adamts2 UTSW 11 50,677,424 (GRCm39) missense possibly damaging 0.48
R7335:Adamts2 UTSW 11 50,493,093 (GRCm39) missense probably benign 0.18
R7373:Adamts2 UTSW 11 50,686,262 (GRCm39) missense probably benign 0.00
R7505:Adamts2 UTSW 11 50,687,347 (GRCm39) missense probably benign 0.00
R7971:Adamts2 UTSW 11 50,647,523 (GRCm39) missense probably damaging 1.00
R8081:Adamts2 UTSW 11 50,668,004 (GRCm39) missense probably damaging 0.99
R8167:Adamts2 UTSW 11 50,670,541 (GRCm39) missense probably damaging 1.00
R8256:Adamts2 UTSW 11 50,683,583 (GRCm39) missense probably benign 0.41
R8298:Adamts2 UTSW 11 50,667,958 (GRCm39) missense possibly damaging 0.91
R8343:Adamts2 UTSW 11 50,494,315 (GRCm39) missense probably damaging 1.00
R8518:Adamts2 UTSW 11 50,666,957 (GRCm39) missense probably damaging 1.00
R8716:Adamts2 UTSW 11 50,664,091 (GRCm39) missense probably damaging 1.00
R8865:Adamts2 UTSW 11 50,672,571 (GRCm39) nonsense probably null
R8968:Adamts2 UTSW 11 50,683,550 (GRCm39) missense possibly damaging 0.72
R9436:Adamts2 UTSW 11 50,694,507 (GRCm39) missense probably benign 0.00
R9694:Adamts2 UTSW 11 50,558,972 (GRCm39) missense probably benign 0.16
R9720:Adamts2 UTSW 11 50,666,954 (GRCm39) missense probably damaging 0.97
R9750:Adamts2 UTSW 11 50,494,333 (GRCm39) missense probably benign 0.00
U15987:Adamts2 UTSW 11 50,647,533 (GRCm39) missense probably damaging 1.00
X0065:Adamts2 UTSW 11 50,694,476 (GRCm39) nonsense probably null
Z1176:Adamts2 UTSW 11 50,683,535 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCACACAAAAGTTCATTTGGCTAC -3'
(R):5'- CTCCAATCGATCCTGGGAAC -3'

Sequencing Primer
(F):5'- GGAACCATCACTGCTGTTAGC -3'
(R):5'- GAACCCCAGCAGTGAGGAC -3'
Posted On 2017-01-03