Incidental Mutation 'R4261:Adamts4'
ID 322636
Institutional Source Beutler Lab
Gene Symbol Adamts4
Ensembl Gene ENSMUSG00000006403
Gene Name a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 4
Synonyms aggrecanase-1, ADAM-TS4
MMRRC Submission 041074-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4261 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171250421-171260637 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 171259104 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 822 (P822S)
Ref Sequence ENSEMBL: ENSMUSP00000151387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111314] [ENSMUST00000111315] [ENSMUST00000219033]
AlphaFold Q8BNJ2
Predicted Effect probably benign
Transcript: ENSMUST00000111314
AA Change: P625S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403
AA Change: P625S

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: P810S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: P810S

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: ENSMUST00000219033
AA Change: P822S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0599 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (53/55)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 8,995,234 (GRCm38) S298P probably damaging Het
4930407I10Rik A G 15: 82,063,726 (GRCm38) D608G possibly damaging Het
Actr10 T C 12: 70,952,985 (GRCm38) V185A probably benign Het
Adam9 G A 8: 24,964,907 (GRCm38) Q733* probably null Het
Arhgap9 G C 10: 127,328,465 (GRCm38) R537P probably damaging Het
Bsn T A 9: 108,110,684 (GRCm38) probably benign Het
Car5a A T 8: 121,944,749 (GRCm38) H15Q probably benign Het
Disp1 A T 1: 183,089,386 (GRCm38) I490N probably damaging Het
Dlgap5 T G 14: 47,413,788 (GRCm38) Y96S probably damaging Het
Dnah10 T A 5: 124,730,137 (GRCm38) V162D possibly damaging Het
Dock7 A T 4: 99,003,886 (GRCm38) M821K possibly damaging Het
Exoc3l T C 8: 105,290,967 (GRCm38) R528G probably damaging Het
Fam234b G A 6: 135,209,136 (GRCm38) G17E unknown Het
Grhl2 G A 15: 37,360,823 (GRCm38) G617D possibly damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,448,348 (GRCm38) probably null Het
Hoxd9 C A 2: 74,695,687 (GRCm38) probably benign Het
Hspa9 A G 18: 34,939,423 (GRCm38) S550P probably damaging Het
Ide A C 19: 37,329,186 (GRCm38) S63A unknown Het
Kat6b T A 14: 21,669,669 (GRCm38) I1363N probably damaging Het
Ltbp1 T A 17: 75,291,367 (GRCm38) C614* probably null Het
Mphosph8 A G 14: 56,674,465 (GRCm38) D315G probably benign Het
Mthfr-ps1 A C 5: 78,474,483 (GRCm38) noncoding transcript Het
Mug1 A G 6: 121,873,734 (GRCm38) T730A probably benign Het
Myef2 T C 2: 125,115,479 (GRCm38) T119A possibly damaging Het
Pald1 A G 10: 61,343,692 (GRCm38) L466P probably damaging Het
Pcdh15 G A 10: 74,645,680 (GRCm38) V286M probably damaging Het
Pcdhgb2 A G 18: 37,691,897 (GRCm38) D647G probably damaging Het
Pdgfrb A C 18: 61,077,631 (GRCm38) T737P probably benign Het
Pgk2 T G 17: 40,207,383 (GRCm38) T385P probably benign Het
Pkp4 A G 2: 59,305,162 (GRCm38) Y126C probably damaging Het
Plppr1 A G 4: 49,300,993 (GRCm38) I109V probably benign Het
Ppcs A G 4: 119,421,909 (GRCm38) F149L probably damaging Het
Ppp2r5d G A 17: 46,687,081 (GRCm38) Q219* probably null Het
Raf1 C T 6: 115,623,054 (GRCm38) probably null Het
Rfx7 C T 9: 72,616,643 (GRCm38) R372W probably damaging Het
Robo4 C A 9: 37,405,581 (GRCm38) S397R probably benign Het
Sat1 T C X: 155,215,186 (GRCm38) probably benign Het
Serpina1c T C 12: 103,897,080 (GRCm38) K287R probably benign Het
Sgsm2 T A 11: 74,892,028 (GRCm38) H34L probably damaging Het
Slc38a4 A G 15: 96,998,493 (GRCm38) Y498H probably damaging Het
Ttn T A 2: 76,798,040 (GRCm38) Y14592F probably damaging Het
Ube3b T C 5: 114,398,428 (GRCm38) F245S possibly damaging Het
Ugt3a2 G A 15: 9,335,793 (GRCm38) probably null Het
Wdr91 T A 6: 34,904,522 (GRCm38) S297C possibly damaging Het
Zcwpw2 T C 9: 117,998,914 (GRCm38) noncoding transcript Het
Other mutations in Adamts4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Adamts4 APN 1 171,252,850 (GRCm38) missense probably damaging 1.00
IGL02496:Adamts4 APN 1 171,250,943 (GRCm38) missense probably benign 0.00
IGL02510:Adamts4 APN 1 171,251,390 (GRCm38) missense probably benign 0.08
IGL02695:Adamts4 APN 1 171,252,634 (GRCm38) missense probably damaging 1.00
IGL02952:Adamts4 APN 1 171,251,348 (GRCm38) missense probably damaging 1.00
IGL03010:Adamts4 APN 1 171,251,416 (GRCm38) missense probably damaging 1.00
IGL03304:Adamts4 APN 1 171,252,869 (GRCm38) splice site probably benign
PIT4305001:Adamts4 UTSW 1 171,259,041 (GRCm38) missense probably benign
R0331:Adamts4 UTSW 1 171,250,972 (GRCm38) missense probably benign 0.00
R1302:Adamts4 UTSW 1 171,253,183 (GRCm38) missense probably damaging 1.00
R1460:Adamts4 UTSW 1 171,256,440 (GRCm38) splice site probably benign
R1502:Adamts4 UTSW 1 171,258,990 (GRCm38) missense probably damaging 1.00
R1544:Adamts4 UTSW 1 171,252,742 (GRCm38) missense probably benign 0.09
R1815:Adamts4 UTSW 1 171,256,336 (GRCm38) missense probably damaging 0.99
R1982:Adamts4 UTSW 1 171,258,934 (GRCm38) missense probably benign 0.00
R1986:Adamts4 UTSW 1 171,256,675 (GRCm38) missense possibly damaging 0.94
R2281:Adamts4 UTSW 1 171,256,229 (GRCm38) missense probably damaging 1.00
R4750:Adamts4 UTSW 1 171,251,066 (GRCm38) missense probably benign
R4868:Adamts4 UTSW 1 171,252,431 (GRCm38) intron probably benign
R4924:Adamts4 UTSW 1 171,259,074 (GRCm38) missense probably damaging 0.97
R5418:Adamts4 UTSW 1 171,252,574 (GRCm38) missense probably damaging 1.00
R5468:Adamts4 UTSW 1 171,252,609 (GRCm38) missense probably benign
R5566:Adamts4 UTSW 1 171,250,850 (GRCm38) start codon destroyed probably null 0.90
R5781:Adamts4 UTSW 1 171,251,015 (GRCm38) missense possibly damaging 0.89
R6043:Adamts4 UTSW 1 171,252,601 (GRCm38) missense probably damaging 1.00
R6053:Adamts4 UTSW 1 171,252,715 (GRCm38) missense possibly damaging 0.85
R6187:Adamts4 UTSW 1 171,250,993 (GRCm38) missense probably damaging 1.00
R6614:Adamts4 UTSW 1 171,256,624 (GRCm38) missense probably benign 0.07
R6976:Adamts4 UTSW 1 171,252,308 (GRCm38) intron probably benign
R7291:Adamts4 UTSW 1 171,256,528 (GRCm38) missense probably benign
R7363:Adamts4 UTSW 1 171,259,039 (GRCm38) missense probably benign 0.40
R7490:Adamts4 UTSW 1 171,256,600 (GRCm38) nonsense probably null
R7797:Adamts4 UTSW 1 171,257,818 (GRCm38) missense probably damaging 1.00
R8191:Adamts4 UTSW 1 171,252,723 (GRCm38) missense
R8408:Adamts4 UTSW 1 171,252,745 (GRCm38) missense possibly damaging 0.56
R8684:Adamts4 UTSW 1 171,258,972 (GRCm38) missense probably damaging 1.00
R9541:Adamts4 UTSW 1 171,257,126 (GRCm38) missense probably damaging 1.00
R9694:Adamts4 UTSW 1 171,253,961 (GRCm38) missense probably benign 0.02
R9760:Adamts4 UTSW 1 171,258,765 (GRCm38) missense probably benign
X0062:Adamts4 UTSW 1 171,256,549 (GRCm38) missense probably damaging 1.00
Z1176:Adamts4 UTSW 1 171,258,784 (GRCm38) missense probably benign 0.29
Z1176:Adamts4 UTSW 1 171,258,783 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTCAATGGTGAATACACGCTG -3'
(R):5'- CCCTACTGTGTTTTAGCAGGAG -3'

Sequencing Primer
(F):5'- TGGTGAATACACGCTGATGCC -3'
(R):5'- GGCAGTTGCAGAAGCCTG -3'
Posted On 2015-06-20