Incidental Mutation 'R5468:Adamts4'
ID 433309
Institutional Source Beutler Lab
Gene Symbol Adamts4
Ensembl Gene ENSMUSG00000006403
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 4
Synonyms aggrecanase-1, ADAM-TS4
MMRRC Submission 043029-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5468 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171077990-171088206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171080178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 244 (T244A)
Ref Sequence ENSEMBL: ENSMUSP00000151387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111314] [ENSMUST00000111315] [ENSMUST00000191871] [ENSMUST00000194778] [ENSMUST00000219033]
AlphaFold Q8BNJ2
Predicted Effect probably benign
Transcript: ENSMUST00000111314
AA Change: T47A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403
AA Change: T47A

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
Pfam:Reprolysin_5 27 214 1.8e-12 PFAM
Pfam:Reprolysin 29 239 1e-19 PFAM
Pfam:Reprolysin_4 33 235 1.2e-10 PFAM
Pfam:Reprolysin_3 50 183 5.4e-12 PFAM
Pfam:Reprolysin_2 50 229 1.9e-9 PFAM
Blast:ACR 240 319 4e-24 BLAST
TSP1 334 386 3.52e-14 SMART
Pfam:ADAM_spacer1 497 614 5.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111315
AA Change: T232A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: T232A

DomainStartEndE-ValueType
signal peptide 1 49 N/A INTRINSIC
Pfam:Pep_M12B_propep 54 177 5.6e-17 PFAM
Pfam:Reprolysin_5 212 399 6.5e-12 PFAM
Pfam:Reprolysin 214 424 4.6e-19 PFAM
Pfam:Reprolysin_4 219 420 4.6e-10 PFAM
Pfam:Reprolysin_3 235 368 1.9e-11 PFAM
Pfam:Reprolysin_2 236 414 7.2e-9 PFAM
Blast:ACR 425 504 4e-24 BLAST
TSP1 519 571 3.52e-14 SMART
Pfam:ADAM_spacer1 682 799 1.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191871
SMART Domains Protein: ENSMUSP00000141942
Gene: ENSMUSG00000013593

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 114 146 5.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194778
SMART Domains Protein: ENSMUSP00000141370
Gene: ENSMUSG00000013593

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 166 231 3.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219033
AA Change: T244A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.0%
Validation Efficiency
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 zinc-dependent aggrecanase enzyme that degrades cartilage. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutant mice do not exhibit any morphological abnormalities. However, they do display impaired coordination and an increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik C T 7: 44,009,659 (GRCm39) R181Q probably damaging Het
Abca13 T A 11: 9,244,062 (GRCm39) L1975Q probably damaging Het
Acp2 T A 2: 91,036,443 (GRCm39) I180N probably benign Het
Adam12 T C 7: 133,577,202 (GRCm39) D221G probably damaging Het
Adrb2 A T 18: 62,312,696 (GRCm39) I43N probably damaging Het
Anxa1 A T 19: 20,355,847 (GRCm39) Y207N probably damaging Het
Apba2 T C 7: 64,395,510 (GRCm39) L662P probably damaging Het
Arhgap18 T A 10: 26,788,667 (GRCm39) I593K probably damaging Het
Arsj T C 3: 126,232,037 (GRCm39) V261A possibly damaging Het
Atp7b A T 8: 22,549,986 (GRCm39) probably null Het
C2cd2 C T 16: 97,669,791 (GRCm39) probably null Het
Cenpf A T 1: 189,384,568 (GRCm39) S2571T probably damaging Het
Cep162 A C 9: 87,109,290 (GRCm39) L438V probably benign Het
Cfap74 A T 4: 155,510,498 (GRCm39) N361I probably benign Het
Cntn5 A G 9: 9,743,633 (GRCm39) I548T probably damaging Het
Cracd A T 5: 76,988,610 (GRCm39) probably benign Het
Dglucy A G 12: 100,816,594 (GRCm39) N382S probably benign Het
Dnah10 C A 5: 124,907,557 (GRCm39) N4306K probably damaging Het
Fam181a A T 12: 103,282,937 (GRCm39) M281L probably benign Het
Fam186b A G 15: 99,176,751 (GRCm39) I713T possibly damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fry A T 5: 150,323,053 (GRCm39) Y1068F probably benign Het
Fubp3 A G 2: 31,493,247 (GRCm39) I231V probably benign Het
Gbf1 A G 19: 46,272,735 (GRCm39) D1681G possibly damaging Het
Gm10999 G A 8: 129,858,130 (GRCm39) P5S probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Impg1 T C 9: 80,347,318 (GRCm39) I9V probably benign Het
Lama4 A G 10: 38,948,678 (GRCm39) probably null Het
Lamc1 A G 1: 153,109,310 (GRCm39) S1161P probably damaging Het
Lipm T A 19: 34,086,954 (GRCm39) probably null Het
Lrrc7 G T 3: 158,024,073 (GRCm39) N107K probably damaging Het
Lypd8 T C 11: 58,277,586 (GRCm39) S123P probably damaging Het
Man2a2 T C 7: 80,002,729 (GRCm39) D1084G probably damaging Het
Man2b2 A G 5: 36,964,519 (GRCm39) S1000P probably benign Het
Ms4a7 C T 19: 11,299,778 (GRCm39) C71Y probably benign Het
Mtus1 A G 8: 41,537,615 (GRCm39) S34P probably benign Het
Myo3b A G 2: 70,064,785 (GRCm39) N406S probably benign Het
Nbr1 A T 11: 101,463,290 (GRCm39) M586L probably benign Het
Nfatc1 C T 18: 80,693,070 (GRCm39) R677H probably benign Het
Nlrc3 A C 16: 3,781,899 (GRCm39) S503R probably damaging Het
Nlrp9c A T 7: 26,064,425 (GRCm39) F968I probably benign Het
Onecut1 A T 9: 74,770,614 (GRCm39) T346S probably damaging Het
Or1j12 A T 2: 36,343,455 (GRCm39) N286I probably damaging Het
Or8b35 G A 9: 37,904,307 (GRCm39) C168Y probably damaging Het
Or8g32 A G 9: 39,305,257 (GRCm39) N57D probably benign Het
Pclo A T 5: 14,730,966 (GRCm39) K3156M unknown Het
Pigo C T 4: 43,024,562 (GRCm39) probably null Het
Plcb4 T C 2: 135,809,072 (GRCm39) F580S probably damaging Het
Plekhm2 G T 4: 141,355,411 (GRCm39) P879H probably damaging Het
Ppm1e T A 11: 87,121,716 (GRCm39) Y747F probably benign Het
Ppwd1 A G 13: 104,361,952 (GRCm39) F69L possibly damaging Het
Prss27 C A 17: 24,257,287 (GRCm39) Q3K possibly damaging Het
Prss29 T A 17: 25,540,020 (GRCm39) N139K possibly damaging Het
Qrich2 T A 11: 116,339,191 (GRCm39) T1777S probably damaging Het
Rbp3 A T 14: 33,678,584 (GRCm39) H844L possibly damaging Het
Rubcnl G A 14: 75,269,471 (GRCm39) C43Y possibly damaging Het
Sec14l5 A G 16: 4,985,004 (GRCm39) probably null Het
Sepsecs A T 5: 52,801,356 (GRCm39) N435K probably damaging Het
Sfrp1 A G 8: 23,936,226 (GRCm39) K223E probably benign Het
Sh3tc2 G A 18: 62,106,502 (GRCm39) probably null Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Tmprss7 A G 16: 45,476,811 (GRCm39) F817S probably damaging Het
Tril T C 6: 53,796,632 (GRCm39) N197D probably damaging Het
Tspan18 T C 2: 93,040,207 (GRCm39) T183A probably benign Het
Uroc1 A T 6: 90,315,586 (GRCm39) M156L probably benign Het
Wnt16 T C 6: 22,291,160 (GRCm39) V196A probably benign Het
Xpnpep1 A G 19: 52,983,950 (GRCm39) Y592H probably benign Het
Zfp553 T C 7: 126,836,202 (GRCm39) S586P probably benign Het
Zfp619 C T 7: 39,185,152 (GRCm39) A394V unknown Het
Zfp985 A G 4: 147,667,702 (GRCm39) Y190C probably benign Het
Zmynd10 T A 9: 107,427,536 (GRCm39) D309E probably benign Het
Zmynd15 T C 11: 70,352,646 (GRCm39) L73P probably damaging Het
Other mutations in Adamts4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Adamts4 APN 1 171,080,419 (GRCm39) missense probably damaging 1.00
IGL02496:Adamts4 APN 1 171,078,512 (GRCm39) missense probably benign 0.00
IGL02510:Adamts4 APN 1 171,078,959 (GRCm39) missense probably benign 0.08
IGL02695:Adamts4 APN 1 171,080,203 (GRCm39) missense probably damaging 1.00
IGL02952:Adamts4 APN 1 171,078,917 (GRCm39) missense probably damaging 1.00
IGL03010:Adamts4 APN 1 171,078,985 (GRCm39) missense probably damaging 1.00
IGL03304:Adamts4 APN 1 171,080,438 (GRCm39) splice site probably benign
PIT4305001:Adamts4 UTSW 1 171,086,610 (GRCm39) missense probably benign
R0331:Adamts4 UTSW 1 171,078,541 (GRCm39) missense probably benign 0.00
R1302:Adamts4 UTSW 1 171,080,752 (GRCm39) missense probably damaging 1.00
R1460:Adamts4 UTSW 1 171,084,009 (GRCm39) splice site probably benign
R1502:Adamts4 UTSW 1 171,086,559 (GRCm39) missense probably damaging 1.00
R1544:Adamts4 UTSW 1 171,080,311 (GRCm39) missense probably benign 0.09
R1815:Adamts4 UTSW 1 171,083,905 (GRCm39) missense probably damaging 0.99
R1982:Adamts4 UTSW 1 171,086,503 (GRCm39) missense probably benign 0.00
R1986:Adamts4 UTSW 1 171,084,244 (GRCm39) missense possibly damaging 0.94
R2281:Adamts4 UTSW 1 171,083,798 (GRCm39) missense probably damaging 1.00
R4261:Adamts4 UTSW 1 171,086,673 (GRCm39) missense probably benign 0.01
R4750:Adamts4 UTSW 1 171,078,635 (GRCm39) missense probably benign
R4868:Adamts4 UTSW 1 171,080,000 (GRCm39) intron probably benign
R4924:Adamts4 UTSW 1 171,086,643 (GRCm39) missense probably damaging 0.97
R5418:Adamts4 UTSW 1 171,080,143 (GRCm39) missense probably damaging 1.00
R5566:Adamts4 UTSW 1 171,078,419 (GRCm39) start codon destroyed probably null 0.90
R5781:Adamts4 UTSW 1 171,078,584 (GRCm39) missense possibly damaging 0.89
R6043:Adamts4 UTSW 1 171,080,170 (GRCm39) missense probably damaging 1.00
R6053:Adamts4 UTSW 1 171,080,284 (GRCm39) missense possibly damaging 0.85
R6187:Adamts4 UTSW 1 171,078,562 (GRCm39) missense probably damaging 1.00
R6614:Adamts4 UTSW 1 171,084,193 (GRCm39) missense probably benign 0.07
R6976:Adamts4 UTSW 1 171,079,877 (GRCm39) intron probably benign
R7291:Adamts4 UTSW 1 171,084,097 (GRCm39) missense probably benign
R7363:Adamts4 UTSW 1 171,086,608 (GRCm39) missense probably benign 0.40
R7490:Adamts4 UTSW 1 171,084,169 (GRCm39) nonsense probably null
R7797:Adamts4 UTSW 1 171,085,387 (GRCm39) missense probably damaging 1.00
R8191:Adamts4 UTSW 1 171,080,292 (GRCm39) missense
R8408:Adamts4 UTSW 1 171,080,314 (GRCm39) missense possibly damaging 0.56
R8684:Adamts4 UTSW 1 171,086,541 (GRCm39) missense probably damaging 1.00
R9541:Adamts4 UTSW 1 171,084,695 (GRCm39) missense probably damaging 1.00
R9694:Adamts4 UTSW 1 171,081,530 (GRCm39) missense probably benign 0.02
R9760:Adamts4 UTSW 1 171,086,334 (GRCm39) missense probably benign
X0062:Adamts4 UTSW 1 171,084,118 (GRCm39) missense probably damaging 1.00
Z1176:Adamts4 UTSW 1 171,086,353 (GRCm39) missense probably benign 0.29
Z1176:Adamts4 UTSW 1 171,086,352 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCTAACTCGGCTGAATTCTAG -3'
(R):5'- GGCTGTGTCAAAGTGGTCAG -3'

Sequencing Primer
(F):5'- GCTGAATTCTAGACCCCGGAATG -3'
(R):5'- TCAAAGTGGTCAGGATCTGAGTC -3'
Posted On 2016-10-06