Mutagenetix > Incidental Mutation

Incidental Mutation 'R3905:Adamts3'

309138

Institutional Source

Beutler Lab

Gene Symbol

Adamts3

Ensembl Gene

ENSMUSG00000043635

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 3

Synonyms

1100001H14Rik, 6330442E02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3905 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	42	174	2.3e-29	PFAM

Meta Mutation Damage Score

0.9346

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,307,389 (GRCm39)	I1964N	possibly damaging	Het
Abca12	A	G	1: 71,318,616 (GRCm39)	F1796L	probably benign	Het
Abca17	T	A	17: 24,515,257 (GRCm39)	M821L	probably benign	Het
Ap4b1	A	T	3: 103,726,209 (GRCm39)	I262F	possibly damaging	Het
Atp1a1	T	A	3: 101,497,928 (GRCm39)	E286D	probably benign	Het
Bard1	T	C	1: 71,106,339 (GRCm39)	I429M	possibly damaging	Het
Bcl7c	T	C	7: 127,266,155 (GRCm39)	R198G	possibly damaging	Het
Cacna1s	T	A	1: 136,012,007 (GRCm39)	M483K	probably damaging	Het
Ccdc159	T	A	9: 21,845,815 (GRCm39)		probably null	Het
Cct7	A	T	6: 85,443,690 (GRCm39)	I353F	possibly damaging	Het
Cfap57	A	G	4: 118,453,036 (GRCm39)	Y556H	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
Gcat	T	C	15: 78,927,531 (GRCm39)	L324P	possibly damaging	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Il22	C	T	10: 118,041,529 (GRCm39)	R81*	probably null	Het
Impa1	T	C	3: 10,381,094 (GRCm39)	T263A	probably benign	Het
Kif13a	T	C	13: 46,956,166 (GRCm39)	Y609C	probably damaging	Het
Kmt2e	A	G	5: 23,706,624 (GRCm39)	N1396D	probably benign	Het
Lrfn1	G	A	7: 28,166,294 (GRCm39)	G563R	possibly damaging	Het
Mark1	A	C	1: 184,640,632 (GRCm39)		probably null	Het
Mxd1	G	T	6: 86,627,942 (GRCm39)	Q199K	probably benign	Het
Myo3a	T	A	2: 22,448,227 (GRCm39)	Y1N	probably damaging	Het
Nek3	T	C	8: 22,623,107 (GRCm39)	E309G	probably benign	Het
Or10h28	T	C	17: 33,487,749 (GRCm39)	F17S	probably damaging	Het
Otoa	A	T	7: 120,724,788 (GRCm39)	Q489L	probably damaging	Het
Oxsr1	T	C	9: 119,076,178 (GRCm39)	E376G	probably benign	Het
Piezo1	C	T	8: 123,208,882 (GRCm39)	E2494K	probably damaging	Het
Pkd1l3	A	G	8: 110,373,511 (GRCm39)	H1349R	probably benign	Het
Psmd2	A	G	16: 20,474,392 (GRCm39)	D316G	probably benign	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Robo4	T	A	9: 37,314,801 (GRCm39)	C218*	probably null	Het
Rxfp2	A	T	5: 149,979,450 (GRCm39)		probably null	Het
Slc10a1	A	G	12: 81,014,441 (GRCm39)	I93T	probably damaging	Het
Tarbp1	C	T	8: 127,154,891 (GRCm39)	R1411Q	probably damaging	Het
Tbl3	C	T	17: 24,921,006 (GRCm39)	D563N	probably damaging	Het
Tec	A	G	5: 72,917,705 (GRCm39)	S505P	probably damaging	Het
Toporsl	A	T	4: 52,611,750 (GRCm39)	R548*	probably null	Het
Vmn1r39	G	A	6: 66,781,479 (GRCm39)	Q243*	probably null	Het
Vmn2r9	C	A	5: 108,995,785 (GRCm39)	A288S	probably benign	Het

Other mutations in Adamts3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTGCCAAACCCACTATGCTG -3'
(R):5'- GAGCATTTGTTCTTCAACGTCACG -3'

Sequencing Primer
(F):5'- AACCCACTATGCTGCCTATAGTTGAG -3'
(R):5'- TTCAACGTCACGGCATTTGGAAG -3'

Posted On

2015-04-17