Incidental Mutation 'R3907:Adamts3'
ID 310240
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 040908-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3907 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 89824946-90031193 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90009214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 150 (G150C)
Ref Sequence ENSEMBL: ENSMUSP00000142771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061427] [ENSMUST00000163159] [ENSMUST00000198151]
AlphaFold E9Q287
Predicted Effect probably damaging
Transcript: ENSMUST00000061427
AA Change: G150C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: G150C

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 damaging
Transcript: ENSMUST00000163159
AA Change: G150C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: G150C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196507
Predicted Effect probably damaging
Transcript: ENSMUST00000198151
AA Change: G150C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142771
Gene: ENSMUSG00000043635
AA Change: G150C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 42 174 2.3e-29 PFAM
Meta Mutation Damage Score 0.9346 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency 97% (56/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd3 A G 7: 110,392,877 (GRCm39) D215G possibly damaging Het
Ank2 A G 3: 126,810,547 (GRCm39) L513P probably damaging Het
Apba1 T C 19: 23,914,870 (GRCm39) I690T probably damaging Het
Arid1a T C 4: 133,420,223 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asns C T 6: 7,682,270 (GRCm39) probably null Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Asph T C 4: 9,474,934 (GRCm39) K680R probably benign Het
Atp2b4 A T 1: 133,666,324 (GRCm39) S243T probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Car4 G A 11: 84,855,183 (GRCm39) V141M probably damaging Het
Cct4 A G 11: 22,951,560 (GRCm39) I376V probably benign Het
Chrm4 C T 2: 91,758,084 (GRCm39) A164V probably damaging Het
Csf3r A T 4: 125,928,240 (GRCm39) D291V probably benign Het
Dcaf6 A T 1: 165,251,949 (GRCm39) C58* probably null Het
Ddi2 T C 4: 141,411,592 (GRCm39) D440G probably benign Het
Defb4 A T 8: 19,251,277 (GRCm39) Q48L possibly damaging Het
Dnaaf9 C T 2: 130,578,496 (GRCm39) A663T probably damaging Het
Duox2 C T 2: 122,113,541 (GRCm39) probably null Het
E130308A19Rik C T 4: 59,752,393 (GRCm39) T502I probably benign Het
Ephb1 A G 9: 101,878,925 (GRCm39) C522R probably benign Het
Fam76a T C 4: 132,643,432 (GRCm39) K101E probably damaging Het
Fat1 G C 8: 45,476,072 (GRCm39) R1706T probably benign Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gm10110 T C 14: 90,135,583 (GRCm39) noncoding transcript Het
Gphn T A 12: 78,540,716 (GRCm39) probably benign Het
Hars1 A T 18: 36,915,769 (GRCm39) D48E probably benign Het
Hmgcll1 G A 9: 75,979,943 (GRCm39) R111H probably benign Het
Ighv3-4 A G 12: 114,217,538 (GRCm39) S18P probably damaging Het
Iws1 G A 18: 32,212,973 (GRCm39) E134K possibly damaging Het
Kcnj4 G T 15: 79,369,946 (GRCm39) H11Q probably benign Het
Krt16 A G 11: 100,137,989 (GRCm39) V329A possibly damaging Het
Loxhd1 A T 18: 77,496,464 (GRCm39) M1575L possibly damaging Het
Mapkapk2 A T 1: 130,984,651 (GRCm39) S234T probably damaging Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Nlrp5 T A 7: 23,133,071 (GRCm39) D905E possibly damaging Het
Or4c117 A C 2: 88,955,927 (GRCm39) Y49* probably null Het
Or6z7 A T 7: 6,483,678 (GRCm39) V159D probably damaging Het
Otoa A T 7: 120,724,788 (GRCm39) Q489L probably damaging Het
Pced1b T C 15: 97,282,431 (GRCm39) S157P probably damaging Het
Ppp1r16b T C 2: 158,603,410 (GRCm39) I345T probably benign Het
Prrt4 G T 6: 29,177,173 (GRCm39) L199M probably damaging Het
Ptpn6 T C 6: 124,702,239 (GRCm39) D347G possibly damaging Het
Pwwp3a T C 10: 80,074,150 (GRCm39) V401A probably damaging Het
Rcan1 A G 16: 92,262,917 (GRCm39) probably benign Het
Rif1 C T 2: 52,002,557 (GRCm39) L2004F probably benign Het
Rnf185 A G 11: 3,376,681 (GRCm39) probably benign Het
Shank2 C T 7: 143,963,313 (GRCm39) P307L probably damaging Het
Slc19a3 G A 1: 82,992,534 (GRCm39) R396C possibly damaging Het
Stn1 T C 19: 47,496,262 (GRCm39) D321G probably damaging Het
Taar7a T C 10: 23,868,457 (GRCm39) Y308C probably benign Het
Tespa1 T C 10: 130,192,666 (GRCm39) probably benign Het
Tmcc2 T C 1: 132,288,376 (GRCm39) D359G probably damaging Het
Trhde C T 10: 114,636,601 (GRCm39) G202E possibly damaging Het
Trip12 T C 1: 84,709,827 (GRCm39) T469A possibly damaging Het
Trip4 A G 9: 65,740,708 (GRCm39) I533T probably benign Het
Tsc22d1 T C 14: 76,653,983 (GRCm39) I154T probably damaging Het
Ttn C A 2: 76,733,686 (GRCm39) probably benign Het
Ugt8a T C 3: 125,708,631 (GRCm39) T160A possibly damaging Het
Usp54 A T 14: 20,636,181 (GRCm39) S288T probably damaging Het
Utrn C T 10: 12,585,926 (GRCm39) 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
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
R9378:Adamts3 UTSW 5 89,848,269 (GRCm39) nonsense probably null
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'- ATAGAGCAGAGGAGTCCTGC -3'
(R):5'- ACGTCACGGCATTTGGAAG -3'

Sequencing Primer
(F):5'- GCAGAGGAGTCCTGCCAAAC -3'
(R):5'- CACGGCATTTGGAAGAGATTTTC -3'
Posted On 2015-04-17