Incidental Mutation 'R9378:Adamts3'
ID 709770
Institutional Source Beutler Lab
Gene Symbol Adamts3
Ensembl Gene ENSMUSG00000043635
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 3
Synonyms 1100001H14Rik, 6330442E02Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9378 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 89824946-90031193 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 89848269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 684 (C684*)
Ref Sequence ENSEMBL: ENSMUSP00000132219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061427] [ENSMUST00000163159]
AlphaFold E9Q287
Predicted Effect probably null
Transcript: ENSMUST00000061427
AA Change: C684*
SMART Domains Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: C684*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 42 201 5.1e-40 PFAM
Pfam:Reprolysin_5 254 439 5.4e-15 PFAM
Pfam:Reprolysin_4 256 454 1.9e-10 PFAM
Pfam:Reprolysin 257 460 3.6e-22 PFAM
Pfam:Reprolysin_2 274 451 7.7e-13 PFAM
Pfam:Reprolysin_3 278 409 1.5e-12 PFAM
TSP1 554 606 1.26e-15 SMART
Pfam:ADAM_spacer1 713 827 3e-34 PFAM
TSP1 848 905 4.35e-2 SMART
TSP1 908 967 4.95e-2 SMART
TSP1 969 1016 6.58e-5 SMART
low complexity region 1114 1128 N/A INTRINSIC
low complexity region 1157 1177 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163159
AA Change: C684*
SMART Domains Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: C684*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 43 201 1.5e-40 PFAM
Pfam:Reprolysin_5 254 439 2.2e-15 PFAM
Pfam:Reprolysin_4 256 454 7.7e-11 PFAM
Pfam:Reprolysin 257 460 3.7e-21 PFAM
Pfam:Reprolysin_2 274 451 4.3e-14 PFAM
Pfam:Reprolysin_3 278 409 1.3e-12 PFAM
TSP1 554 606 1.26e-15 SMART
Pfam:ADAM_spacer1 713 828 3.6e-28 PFAM
TSP1 849 906 4.35e-2 SMART
TSP1 909 968 4.95e-2 SMART
TSP1 970 1017 6.58e-5 SMART
low complexity region 1115 1129 N/A INTRINSIC
low complexity region 1158 1178 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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) 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 encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,735 (GRCm39) K1047E possibly damaging Het
Aadacl2fm1 A G 3: 59,839,110 (GRCm39) T11A possibly damaging Het
Abca14 A T 7: 119,807,191 (GRCm39) Y79F possibly damaging Het
Abca2 T A 2: 25,329,094 (GRCm39) M978K probably benign Het
Adnp2 T C 18: 80,172,637 (GRCm39) T591A probably benign Het
Aff4 A T 11: 53,263,306 (GRCm39) T109S probably damaging Het
Agmo A G 12: 37,293,720 (GRCm39) I48V probably benign Het
Appl1 G A 14: 26,649,784 (GRCm39) R581* probably null Het
Armc9 A T 1: 86,189,766 (GRCm39) M714L probably benign Het
Atp6v0d2 T A 4: 19,922,377 (GRCm39) T41S probably benign Het
Bin1 A T 18: 32,552,921 (GRCm39) Q182L probably damaging Het
Bmp10 A G 6: 87,410,684 (GRCm39) D159G probably benign Het
Bsn G A 9: 107,984,854 (GRCm39) P295S possibly damaging Het
Cbx6 A G 15: 79,712,606 (GRCm39) S274P probably damaging Het
Cdc20b A G 13: 113,192,631 (GRCm39) K108R probably benign Het
Ces1d T A 8: 93,912,724 (GRCm39) N238I probably damaging Het
Col7a1 C T 9: 108,787,708 (GRCm39) Q663* probably null Het
Cpsf3 T C 12: 21,358,039 (GRCm39) I517T possibly damaging Het
Cyp2a5 C A 7: 26,539,879 (GRCm39) T309N probably damaging Het
Cyp2d40 A G 15: 82,645,802 (GRCm39) F68L possibly damaging Het
Cyp7b1 A T 3: 18,150,837 (GRCm39) W301R probably damaging Het
Dnah6 T A 6: 73,189,513 (GRCm39) N45I probably benign Het
Dnah7a A T 1: 53,621,776 (GRCm39) H1116Q probably benign Het
Dntt A G 19: 41,027,356 (GRCm39) N141S probably benign Het
Fbxl13 T C 5: 21,790,201 (GRCm39) N281D probably damaging Het
Frem2 A T 3: 53,559,410 (GRCm39) L1699H probably damaging Het
Gabrr3 T C 16: 59,282,037 (GRCm39) V464A possibly damaging Het
Gdap1 T A 1: 17,227,353 (GRCm39) I160N probably damaging Het
Hnrnpll C A 17: 80,369,291 (GRCm39) R44L unknown Het
Hsp90ab1 T C 17: 45,881,680 (GRCm39) E187G probably damaging Het
Ighm T A 12: 113,386,210 (GRCm39) T47S Het
Itgb7 A C 15: 102,135,831 (GRCm39) probably null Het
Kif16b A T 2: 142,461,738 (GRCm39) C1293* probably null Het
Klf11 C T 12: 24,705,043 (GRCm39) R166C probably benign Het
Lca5l T A 16: 95,977,212 (GRCm39) Q198L probably damaging Het
Lnx2 A T 5: 146,961,180 (GRCm39) M584K probably benign Het
Lpp A T 16: 24,540,737 (GRCm39) M1L probably benign Het
Lrig3 A G 10: 125,832,953 (GRCm39) T276A probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Megf8 A T 7: 25,039,840 (GRCm39) probably null Het
Myh1 A C 11: 67,093,259 (GRCm39) T117P probably damaging Het
Neb C A 2: 52,134,113 (GRCm39) R3290L possibly damaging Het
Neb A C 2: 52,137,304 (GRCm39) V220G Het
Nktr A T 9: 121,577,264 (GRCm39) K444I probably damaging Het
Nol11 A T 11: 107,064,505 (GRCm39) M483K probably benign Het
Npy1r C A 8: 67,156,861 (GRCm39) P94T probably damaging Het
Nsmaf T C 4: 6,440,940 (GRCm39) T37A probably benign Het
Or10ad1b A G 15: 98,124,920 (GRCm39) L204P possibly damaging Het
Or2y3 G A 17: 38,393,056 (GRCm39) A271V possibly damaging Het
Or4c119 T C 2: 88,987,399 (GRCm39) N40S probably damaging Het
Or51v8 A T 7: 103,319,389 (GRCm39) M283K probably damaging Het
Or5w14 C A 2: 87,541,423 (GRCm39) V276F possibly damaging Het
Or8a1b A G 9: 37,623,473 (GRCm39) I34T probably damaging Het
Or8b37 G A 9: 37,958,775 (GRCm39) V86M possibly damaging Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Pcdha3 A G 18: 37,080,284 (GRCm39) D342G probably damaging Het
Pclo G A 5: 14,815,877 (GRCm39) V1266I Het
Pcnx4 T C 12: 72,602,664 (GRCm39) Y309H probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pdzrn3 T G 6: 101,127,772 (GRCm39) K965Q probably damaging Het
Phldb1 G A 9: 44,615,425 (GRCm39) A225V probably benign Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Plat A G 8: 23,265,599 (GRCm39) Y214C probably damaging Het
Plppr1 T A 4: 49,325,627 (GRCm39) C274* probably null Het
Poglut1 A G 16: 38,347,133 (GRCm39) F345L possibly damaging Het
Ppara A T 15: 85,661,837 (GRCm39) E26V possibly damaging Het
Ppcdc A T 9: 57,327,571 (GRCm39) W79R probably damaging Het
Prdm1 C T 10: 44,316,150 (GRCm39) C662Y probably damaging Het
Sgms2 G A 3: 131,136,011 (GRCm39) probably benign Het
Slc31a1 T A 4: 62,306,843 (GRCm39) M133K probably damaging Het
Smg1 G A 7: 117,777,998 (GRCm39) Q1309* probably null Het
Sos1 T C 17: 80,761,239 (GRCm39) I152M probably damaging Het
Stk4 A T 2: 163,952,136 (GRCm39) probably benign Het
Syne1 T G 10: 5,200,954 (GRCm39) N3538T probably damaging Het
Tbc1d16 A G 11: 119,099,666 (GRCm39) F236S probably damaging Het
Tgs1 T A 4: 3,595,475 (GRCm39) M548K probably benign Het
Twf1 G A 15: 94,483,336 (GRCm39) T124I probably damaging Het
Tyro3 G A 2: 119,642,648 (GRCm39) G611R probably damaging Het
Unc13b T A 4: 43,173,282 (GRCm39) I1370K unknown Het
Usp40 A G 1: 87,885,032 (GRCm39) W939R probably damaging Het
Vamp8 A T 6: 72,362,554 (GRCm39) V82E probably damaging Het
Vmn2r17 A G 5: 109,575,732 (GRCm39) H201R possibly damaging Het
Whrn T C 4: 63,350,079 (GRCm39) H546R probably benign Het
Yeats2 T C 16: 20,033,228 (GRCm39) V1036A probably benign Het
Zfp352 T G 4: 90,112,575 (GRCm39) N238K probably benign Het
Zfp36l3 TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG TCCAGG X: 52,776,521 (GRCm39) probably benign Het
Zfp462 T A 4: 55,011,510 (GRCm39) S1159T probably benign Het
Zscan4-ps1 A T 7: 10,800,192 (GRCm39) H232Q probably benign Het
Other mutations in Adamts3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Adamts3 APN 5 90,009,184 (GRCm39) missense probably damaging 1.00
IGL00340:Adamts3 APN 5 89,849,525 (GRCm39) missense probably damaging 1.00
IGL00923:Adamts3 APN 5 89,832,235 (GRCm39) missense probably benign 0.06
IGL01420:Adamts3 APN 5 89,850,916 (GRCm39) missense possibly damaging 0.57
IGL01522:Adamts3 APN 5 89,850,802 (GRCm39) missense probably benign 0.14
IGL01676:Adamts3 APN 5 90,029,402 (GRCm39) missense possibly damaging 0.54
IGL01676:Adamts3 APN 5 89,825,613 (GRCm39) missense probably benign 0.00
IGL01678:Adamts3 APN 5 89,855,715 (GRCm39) missense probably damaging 1.00
IGL01936:Adamts3 APN 5 90,009,282 (GRCm39) missense probably benign 0.00
IGL01956:Adamts3 APN 5 89,825,770 (GRCm39) missense probably damaging 0.99
IGL02342:Adamts3 APN 5 89,839,332 (GRCm39) splice site probably null
IGL02415:Adamts3 APN 5 89,854,506 (GRCm39) splice site probably null
IGL03261:Adamts3 APN 5 90,030,756 (GRCm39) utr 5 prime probably benign
IGL03301:Adamts3 APN 5 89,855,263 (GRCm39) missense probably damaging 1.00
R0041:Adamts3 UTSW 5 89,832,326 (GRCm39) missense probably benign
R0079:Adamts3 UTSW 5 89,840,912 (GRCm39) missense probably benign 0.00
R0096:Adamts3 UTSW 5 89,849,576 (GRCm39) nonsense probably null
R0096:Adamts3 UTSW 5 89,849,576 (GRCm39) nonsense probably null
R0477:Adamts3 UTSW 5 89,832,366 (GRCm39) missense probably benign
R0605:Adamts3 UTSW 5 90,009,334 (GRCm39) missense possibly damaging 0.96
R1036:Adamts3 UTSW 5 89,843,952 (GRCm39) splice site probably benign
R1462:Adamts3 UTSW 5 90,009,208 (GRCm39) missense probably benign 0.17
R1462:Adamts3 UTSW 5 90,009,208 (GRCm39) missense probably benign 0.17
R1621:Adamts3 UTSW 5 89,869,560 (GRCm39) missense probably damaging 1.00
R1799:Adamts3 UTSW 5 89,923,280 (GRCm39) missense probably benign 0.00
R2163:Adamts3 UTSW 5 89,856,577 (GRCm39) missense probably damaging 0.99
R2412:Adamts3 UTSW 5 89,849,630 (GRCm39) missense probably damaging 0.99
R2420:Adamts3 UTSW 5 89,831,034 (GRCm39) missense probably damaging 0.97
R2421:Adamts3 UTSW 5 89,831,034 (GRCm39) missense probably damaging 0.97
R2422:Adamts3 UTSW 5 89,831,034 (GRCm39) missense probably damaging 0.97
R2921:Adamts3 UTSW 5 90,009,393 (GRCm39) missense possibly damaging 0.90
R2922:Adamts3 UTSW 5 90,009,393 (GRCm39) missense possibly damaging 0.90
R2923:Adamts3 UTSW 5 90,009,393 (GRCm39) missense possibly damaging 0.90
R3402:Adamts3 UTSW 5 89,849,592 (GRCm39) missense probably benign 0.04
R3431:Adamts3 UTSW 5 89,855,312 (GRCm39) splice site probably benign
R3432:Adamts3 UTSW 5 89,855,312 (GRCm39) splice site probably benign
R3813:Adamts3 UTSW 5 89,825,785 (GRCm39) missense possibly damaging 0.67
R3816:Adamts3 UTSW 5 89,853,123 (GRCm39) missense probably damaging 0.99
R3905:Adamts3 UTSW 5 90,009,214 (GRCm39) missense probably damaging 1.00
R3906:Adamts3 UTSW 5 90,009,214 (GRCm39) missense probably damaging 1.00
R3907:Adamts3 UTSW 5 90,009,214 (GRCm39) missense probably damaging 1.00
R3908:Adamts3 UTSW 5 90,009,214 (GRCm39) missense probably damaging 1.00
R4557:Adamts3 UTSW 5 89,848,346 (GRCm39) missense probably benign 0.03
R4684:Adamts3 UTSW 5 89,850,866 (GRCm39) missense probably damaging 0.98
R4844:Adamts3 UTSW 5 89,825,675 (GRCm39) missense probably damaging 0.99
R4925:Adamts3 UTSW 5 89,832,182 (GRCm39) missense probably benign 0.01
R5097:Adamts3 UTSW 5 89,840,909 (GRCm39) missense probably damaging 0.97
R5100:Adamts3 UTSW 5 89,856,502 (GRCm39) missense probably damaging 1.00
R5237:Adamts3 UTSW 5 89,923,236 (GRCm39) missense probably benign
R5265:Adamts3 UTSW 5 90,009,411 (GRCm39) missense possibly damaging 0.91
R5322:Adamts3 UTSW 5 89,855,159 (GRCm39) splice site probably null
R5413:Adamts3 UTSW 5 89,856,626 (GRCm39) missense probably damaging 1.00
R5459:Adamts3 UTSW 5 89,839,332 (GRCm39) splice site probably null
R5738:Adamts3 UTSW 5 89,856,527 (GRCm39) missense probably damaging 1.00
R5979:Adamts3 UTSW 5 90,009,528 (GRCm39) missense probably damaging 0.96
R5992:Adamts3 UTSW 5 89,839,194 (GRCm39) missense probably damaging 1.00
R6364:Adamts3 UTSW 5 89,869,673 (GRCm39) missense possibly damaging 0.92
R6572:Adamts3 UTSW 5 90,009,468 (GRCm39) missense possibly damaging 0.87
R7098:Adamts3 UTSW 5 90,009,354 (GRCm39) missense probably damaging 1.00
R7172:Adamts3 UTSW 5 90,030,860 (GRCm39) start gained probably benign
R7263:Adamts3 UTSW 5 89,825,601 (GRCm39) missense probably benign 0.03
R7401:Adamts3 UTSW 5 89,855,309 (GRCm39) critical splice acceptor site probably null
R7599:Adamts3 UTSW 5 90,009,256 (GRCm39) missense probably benign 0.00
R7829:Adamts3 UTSW 5 90,009,349 (GRCm39) missense probably damaging 1.00
R7835:Adamts3 UTSW 5 89,848,299 (GRCm39) missense possibly damaging 0.70
R7892:Adamts3 UTSW 5 90,009,288 (GRCm39) missense probably benign 0.10
R8021:Adamts3 UTSW 5 89,831,043 (GRCm39) missense possibly damaging 0.47
R8289:Adamts3 UTSW 5 89,923,282 (GRCm39) missense possibly damaging 0.89
R8350:Adamts3 UTSW 5 89,850,815 (GRCm39) missense probably damaging 1.00
R8468:Adamts3 UTSW 5 89,842,627 (GRCm39) missense probably benign 0.19
R8827:Adamts3 UTSW 5 89,839,324 (GRCm39) missense probably benign 0.03
R8864:Adamts3 UTSW 5 89,854,981 (GRCm39) intron probably benign
R8906:Adamts3 UTSW 5 89,825,575 (GRCm39) missense probably damaging 0.98
R9000:Adamts3 UTSW 5 89,854,570 (GRCm39) missense probably benign 0.17
R9005:Adamts3 UTSW 5 89,825,693 (GRCm39) missense probably benign 0.08
R9505:Adamts3 UTSW 5 89,855,751 (GRCm39) missense probably damaging 1.00
R9516:Adamts3 UTSW 5 89,834,750 (GRCm39) missense probably damaging 1.00
X0064:Adamts3 UTSW 5 89,850,901 (GRCm39) missense possibly damaging 0.75
Z1088:Adamts3 UTSW 5 89,832,308 (GRCm39) missense probably damaging 0.99
Z1176:Adamts3 UTSW 5 89,923,210 (GRCm39) missense not run
Z1177:Adamts3 UTSW 5 89,923,210 (GRCm39) missense not run
Z1177:Adamts3 UTSW 5 89,855,723 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTGGAATGCTAGGGGATGC -3'
(R):5'- AGTAAACTATGCTGGTCAAACATCC -3'

Sequencing Primer
(F):5'- ATGCTGGGGGATGCCAG -3'
(R):5'- AGACTGGGGATGTTGCTTA -3'
Posted On 2022-04-18