Mutagenetix > Incidental Mutation

Incidental Mutation 'R5322:Adamts3'

404896

Institutional Source

Beutler Lab

Gene Symbol

Adamts3

Ensembl Gene

ENSMUSG00000043635

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3

Synonyms

6330442E02Rik, 1100001H14Rik

MMRRC Submission

042905-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89677087-89883334 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 89707300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061427] [ENSMUST00000163159]

AlphaFold

E9Q287

Predicted Effect

probably null
Transcript: ENSMUST00000061427

SMART Domains

Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635

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 null
Transcript: ENSMUST00000163159

SMART Domains

Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	G	9: 94,520,562	I349T	probably benign	Het
Ankar	T	C	1: 72,690,386		probably null	Het
Ankrd60	T	A	2: 173,568,817	K303N	possibly damaging	Het
Appbp2	A	G	11: 85,196,064		probably null	Het
Arvcf	T	C	16: 18,397,643	M176T	probably benign	Het
Cachd1	T	C	4: 100,952,122	I268T	probably damaging	Het
Ccdc66	A	G	14: 27,482,527	S933P	probably damaging	Het
Cfi	C	T	3: 129,873,040	P471S	probably damaging	Het
Ckmt2	G	T	13: 91,861,772	T143K	possibly damaging	Het
Cnksr3	A	T	10: 7,135,078	D15E	probably damaging	Het
Copb2	A	T	9: 98,585,976	K680N	probably benign	Het
D2hgdh	T	C	1: 93,829,898		probably null	Het
Dcn	A	T	10: 97,517,602	T338S	probably benign	Het
Dnah10	G	A	5: 124,773,566	G1644D	probably damaging	Het
Dnah5	A	G	15: 28,384,244	I3045V	probably benign	Het
Dock3	G	A	9: 106,901,829	T307I	probably benign	Het
Dock5	A	T	14: 67,770,266	I1498N	probably benign	Het
Emc1	A	T	4: 139,354,246	N62Y	probably damaging	Het
Enpp6	C	A	8: 47,068,915	H295N	probably benign	Het
Epha10	A	G	4: 124,885,748	Y129C	probably damaging	Het
Fbn2	A	T	18: 58,039,315	D2139E	probably benign	Het
Fbxl12	A	T	9: 20,639,008	V140E	probably damaging	Het
Fignl1	A	T	11: 11,801,571	F495I	probably damaging	Het
Gm43302	C	T	5: 105,217,481	A554T	probably benign	Het
Gpr157	A	G	4: 150,098,852	N160D	probably benign	Het
Il1rn	G	A	2: 24,348,629		probably null	Het
Kctd13	T	A	7: 126,929,206	L51Q	probably damaging	Het
Kndc1	T	C	7: 139,936,809	F1561L	probably damaging	Het
Mast2	A	G	4: 116,333,411		probably null	Het
Mib1	A	G	18: 10,792,975	H637R	probably damaging	Het
Moxd1	A	T	10: 24,244,253	N93I	possibly damaging	Het
Mycbp2	T	C	14: 103,185,683		probably null	Het
Myot	T	C	18: 44,354,149	F351S	probably benign	Het
N4bp2	T	A	5: 65,790,457	N143K	possibly damaging	Het
Olfr1018	T	A	2: 85,823,187	I72N	probably damaging	Het
Olfr147	A	T	9: 38,403,566	I228F	probably damaging	Het
Olfr243	T	A	7: 103,717,112	W173R	probably benign	Het
Olfr455	T	C	6: 42,539,016	D2G	probably benign	Het
Olfr623	T	C	7: 103,660,672	I193V	possibly damaging	Het
Olfr666	C	T	7: 104,893,164	V155I	probably benign	Het
Olfr917	T	A	9: 38,665,206	I213L	probably benign	Het
Patl1	C	T	19: 11,920,859	R134*	probably null	Het
Paxbp1	T	C	16: 91,015,162	I887V	probably benign	Het
Pi4kb	G	A	3: 94,994,249	R436Q	probably benign	Het
Pla2g3	A	G	11: 3,488,686	E112G	probably benign	Het
Ppp2r2a	A	G	14: 67,038,873		probably null	Het
Rela	T	A	19: 5,645,380	S311R	possibly damaging	Het
Sidt1	T	A	16: 44,281,622		probably benign	Het
Smco2	T	C	6: 146,871,287	L329P	probably damaging	Het
Speer4f1	A	T	5: 17,477,349	I77F	possibly damaging	Het
Tex14	A	G	11: 87,511,472	I462V	probably benign	Het
Tmem260	C	T	14: 48,486,849	R385W	probably damaging	Het
Trrap	T	C	5: 144,844,224	V2974A	probably damaging	Het
Usp47	C	T	7: 112,053,269	T31I	probably damaging	Het
Zc2hc1a	A	G	3: 7,551,421	N247S	probably benign	Het
Zeb2	A	C	2: 44,997,095	M582R	probably damaging	Het

Other mutations in Adamts3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Adamts3	APN	5	89861325	missense	probably damaging	1.00
IGL00340:Adamts3	APN	5	89701666	missense	probably damaging	1.00
IGL00923:Adamts3	APN	5	89684376	missense	probably benign	0.06
IGL01420:Adamts3	APN	5	89703057	missense	possibly damaging	0.57
IGL01522:Adamts3	APN	5	89702943	missense	probably benign	0.14
IGL01676:Adamts3	APN	5	89677754	missense	probably benign	0.00
IGL01676:Adamts3	APN	5	89881543	missense	possibly damaging	0.54
IGL01678:Adamts3	APN	5	89707856	missense	probably damaging	1.00
IGL01936:Adamts3	APN	5	89861423	missense	probably benign	0.00
IGL01956:Adamts3	APN	5	89677911	missense	probably damaging	0.99
IGL02342:Adamts3	APN	5	89691473	splice site	probably null
IGL02415:Adamts3	APN	5	89706647	splice site	probably null
IGL03261:Adamts3	APN	5	89882897	utr 5 prime	probably benign
IGL03301:Adamts3	APN	5	89707404	missense	probably damaging	1.00
R0041:Adamts3	UTSW	5	89684467	missense	probably benign
R0079:Adamts3	UTSW	5	89693053	missense	probably benign	0.00
R0096:Adamts3	UTSW	5	89701717	nonsense	probably null
R0096:Adamts3	UTSW	5	89701717	nonsense	probably null
R0477:Adamts3	UTSW	5	89684507	missense	probably benign
R0605:Adamts3	UTSW	5	89861475	missense	possibly damaging	0.96
R1036:Adamts3	UTSW	5	89696093	splice site	probably benign
R1462:Adamts3	UTSW	5	89861349	missense	probably benign	0.17
R1462:Adamts3	UTSW	5	89861349	missense	probably benign	0.17
R1621:Adamts3	UTSW	5	89721701	missense	probably damaging	1.00
R1799:Adamts3	UTSW	5	89775421	missense	probably benign	0.00
R2163:Adamts3	UTSW	5	89708718	missense	probably damaging	0.99
R2412:Adamts3	UTSW	5	89701771	missense	probably damaging	0.99
R2420:Adamts3	UTSW	5	89683175	missense	probably damaging	0.97
R2421:Adamts3	UTSW	5	89683175	missense	probably damaging	0.97
R2422:Adamts3	UTSW	5	89683175	missense	probably damaging	0.97
R2921:Adamts3	UTSW	5	89861534	missense	possibly damaging	0.90
R2922:Adamts3	UTSW	5	89861534	missense	possibly damaging	0.90
R2923:Adamts3	UTSW	5	89861534	missense	possibly damaging	0.90
R3402:Adamts3	UTSW	5	89701733	missense	probably benign	0.04
R3431:Adamts3	UTSW	5	89707453	splice site	probably benign
R3432:Adamts3	UTSW	5	89707453	splice site	probably benign
R3813:Adamts3	UTSW	5	89677926	missense	possibly damaging	0.67
R3816:Adamts3	UTSW	5	89705264	missense	probably damaging	0.99
R3905:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R3906:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R3907:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R3908:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R4557:Adamts3	UTSW	5	89700487	missense	probably benign	0.03
R4684:Adamts3	UTSW	5	89703007	missense	probably damaging	0.98
R4844:Adamts3	UTSW	5	89677816	missense	probably damaging	0.99
R4925:Adamts3	UTSW	5	89684323	missense	probably benign	0.01
R5097:Adamts3	UTSW	5	89693050	missense	probably damaging	0.97
R5100:Adamts3	UTSW	5	89708643	missense	probably damaging	1.00
R5237:Adamts3	UTSW	5	89775377	missense	probably benign
R5265:Adamts3	UTSW	5	89861552	missense	possibly damaging	0.91
R5413:Adamts3	UTSW	5	89708767	missense	probably damaging	1.00
R5459:Adamts3	UTSW	5	89691473	splice site	probably null
R5738:Adamts3	UTSW	5	89708668	missense	probably damaging	1.00
R5979:Adamts3	UTSW	5	89861669	missense	probably damaging	0.96
R5992:Adamts3	UTSW	5	89691335	missense	probably damaging	1.00
R6364:Adamts3	UTSW	5	89721814	missense	possibly damaging	0.92
R6572:Adamts3	UTSW	5	89861609	missense	possibly damaging	0.87
R7098:Adamts3	UTSW	5	89861495	missense	probably damaging	1.00
R7172:Adamts3	UTSW	5	89883001	start gained	probably benign
R7263:Adamts3	UTSW	5	89677742	missense	probably benign	0.03
R7401:Adamts3	UTSW	5	89707450	critical splice acceptor site	probably null
R7599:Adamts3	UTSW	5	89861397	missense	probably benign	0.00
R7829:Adamts3	UTSW	5	89861490	missense	probably damaging	1.00
R7835:Adamts3	UTSW	5	89700440	missense	possibly damaging	0.70
R7892:Adamts3	UTSW	5	89861429	missense	probably benign	0.10
R8021:Adamts3	UTSW	5	89683184	missense	possibly damaging	0.47
R8289:Adamts3	UTSW	5	89775423	missense	possibly damaging	0.89
R8350:Adamts3	UTSW	5	89702956	missense	probably damaging	1.00
R8468:Adamts3	UTSW	5	89694768	missense	probably benign	0.19
R8827:Adamts3	UTSW	5	89691465	missense	probably benign	0.03
R8864:Adamts3	UTSW	5	89707122	intron	probably benign
R8906:Adamts3	UTSW	5	89677716	missense	probably damaging	0.98
R9000:Adamts3	UTSW	5	89706711	missense	probably benign	0.17
R9005:Adamts3	UTSW	5	89677834	missense	probably benign	0.08
R9378:Adamts3	UTSW	5	89700410	nonsense	probably null
R9505:Adamts3	UTSW	5	89707892	missense	probably damaging	1.00
R9516:Adamts3	UTSW	5	89686891	missense	probably damaging	1.00
X0064:Adamts3	UTSW	5	89703042	missense	possibly damaging	0.75
Z1088:Adamts3	UTSW	5	89684449	missense	probably damaging	0.99
Z1176:Adamts3	UTSW	5	89775351	missense	not run
Z1177:Adamts3	UTSW	5	89707864	nonsense	probably null
Z1177:Adamts3	UTSW	5	89775351	missense	not run

Predicted Primers

PCR Primer
(F):5'- GTCTCCATCCTCAGGACAAATC -3'
(R):5'- ACAGGGAAATCCAAGCCATG -3'

Sequencing Primer
(F):5'- TCTCACCACCAGTCACAAGG -3'
(R):5'- CAAGCCATGGATCTGTGATTC -3'

Posted On

2016-07-22