Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03012:Adamts2'

407827

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts2

Ensembl Gene

ENSMUSG00000036545

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 2

Synonyms

a disintegrin and metalloproteinase with thrombospondin repeats, hPCPNI, ADAM-TS2, procollagen N-proteinase

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL03012

Quality Score

Status

Chromosome

Chromosomal Location

50492912-50698400 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 50667096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040523]

AlphaFold

Q8C9W3

Predicted Effect

probably benign
Transcript: ENSMUST00000040523

SMART Domains

Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	44	52	N/A	INTRINSIC
Pfam:Pep_M12B_propep	56	211	2.6e-39	PFAM
low complexity region	214	225	N/A	INTRINSIC
coiled coil region	236	260	N/A	INTRINSIC
Pfam:Reprolysin_5	265	450	1.4e-15	PFAM
Pfam:Reprolysin_4	267	464	7.1e-11	PFAM
Pfam:Reprolysin	268	471	2.4e-20	PFAM
Pfam:Reprolysin_2	285	463	9.1e-14	PFAM
Pfam:Reprolysin_3	289	420	8.7e-13	PFAM
TSP1	565	617	9.73e-17	SMART
Pfam:ADAM_spacer1	724	838	5.1e-33	PFAM
low complexity region	839	853	N/A	INTRINSIC
TSP1	858	915	1.05e-3	SMART
TSP1	918	977	2.78e-3	SMART
TSP1	980	1030	4.99e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125988

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin repeats) family of proteinases that is involved in the proteolytic processing of procollagens. The encoded protein precursor is proteolytically processed to generate a mature, zinc-dependent enzyme. Mice lacking the encoded protein develop abnormal lungs, fragile skin and male sterility. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	A	C	9: 118,986,014 (GRCm39)	S17A	probably benign	Het
Acp1	T	G	12: 30,945,948 (GRCm39)	N135T	probably benign	Het
Arfgef2	C	T	2: 166,710,808 (GRCm39)		probably benign	Het
Atp10b	T	A	11: 43,085,482 (GRCm39)	I287N	probably damaging	Het
Camta1	T	A	4: 151,537,756 (GRCm39)	K141N	probably damaging	Het
Carmil1	T	C	13: 24,220,355 (GRCm39)	D719G	probably benign	Het
Cntnap5c	T	A	17: 58,666,229 (GRCm39)	H1086Q	probably benign	Het
Dsg3	A	G	18: 20,670,300 (GRCm39)		probably null	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
G6pd2	A	G	5: 61,966,816 (GRCm39)	Y197C	probably damaging	Het
Il13ra1	G	T	X: 35,394,247 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,479,733 (GRCm39)	P111S	probably benign	Het
Kmt2a	T	C	9: 44,722,263 (GRCm39)		probably benign	Het
Lztr1	T	C	16: 17,339,348 (GRCm39)	S57P	possibly damaging	Het
Mtss1	T	G	15: 58,930,249 (GRCm39)	D32A	probably damaging	Het
Mylk	G	A	16: 34,773,151 (GRCm39)	D1250N	probably benign	Het
Ncln	A	G	10: 81,325,799 (GRCm39)	F349L	probably benign	Het
Pgap1	A	G	1: 54,572,572 (GRCm39)		probably benign	Het
Rarres2	T	C	6: 48,547,239 (GRCm39)	D107G	probably benign	Het
Ric3	T	C	7: 108,637,925 (GRCm39)	D276G	probably benign	Het
Trim54	A	G	5: 31,294,489 (GRCm39)	D339G	probably benign	Het
Trip11	G	A	12: 101,850,195 (GRCm39)	H1005Y	probably damaging	Het
Tulp4	G	T	17: 6,263,654 (GRCm39)		probably benign	Het
Unc93a	C	T	17: 13,328,495 (GRCm39)	E453K	probably benign	Het
Vmn1r181	A	T	7: 23,684,027 (GRCm39)	D164V	probably damaging	Het
Vmn1r78	T	A	7: 11,887,291 (GRCm39)	S301T	probably benign	Het
Vmn1r85	T	C	7: 12,818,692 (GRCm39)	N151D	probably benign	Het
Wnk2	T	C	13: 49,197,865 (GRCm39)	K2008E	probably damaging	Het
Wrap73	A	G	4: 154,229,691 (GRCm39)		probably benign	Het
Zfp408	G	A	2: 91,478,153 (GRCm39)	A41V	probably benign	Het
Zfp472	A	G	17: 33,196,545 (GRCm39)	S207G	probably benign	Het

Other mutations in Adamts2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Adamts2	APN	11	50,694,528 (GRCm39)	missense	probably benign	0.00
IGL01366:Adamts2	APN	11	50,687,295 (GRCm39)	missense	probably damaging	1.00
IGL01412:Adamts2	APN	11	50,686,230 (GRCm39)	missense	probably benign	0.43
IGL01443:Adamts2	APN	11	50,694,690 (GRCm39)	missense	possibly damaging	0.54
IGL01974:Adamts2	APN	11	50,667,001 (GRCm39)	missense	probably damaging	0.99
IGL02267:Adamts2	APN	11	50,683,505 (GRCm39)	missense	probably benign	0.00
IGL02498:Adamts2	APN	11	50,668,023 (GRCm39)	missense	probably damaging	1.00
IGL02498:Adamts2	APN	11	50,664,135 (GRCm39)	missense	possibly damaging	0.81
IGL02626:Adamts2	APN	11	50,667,082 (GRCm39)	missense	probably damaging	0.99
IGL02634:Adamts2	APN	11	50,683,548 (GRCm39)	nonsense	probably null
IGL02643:Adamts2	APN	11	50,679,527 (GRCm39)	missense	probably benign	0.01
IGL02836:Adamts2	APN	11	50,678,106 (GRCm39)	missense	probably damaging	1.00
ANU22:Adamts2	UTSW	11	50,628,190 (GRCm39)	missense	probably benign	0.06
H8441:Adamts2	UTSW	11	50,675,505 (GRCm39)	missense	probably damaging	1.00
R0050:Adamts2	UTSW	11	50,666,222 (GRCm39)	missense	probably damaging	1.00
R0050:Adamts2	UTSW	11	50,666,222 (GRCm39)	missense	probably damaging	1.00
R0240:Adamts2	UTSW	11	50,666,201 (GRCm39)	missense	probably damaging	1.00
R0240:Adamts2	UTSW	11	50,666,201 (GRCm39)	missense	probably damaging	1.00
R0491:Adamts2	UTSW	11	50,667,457 (GRCm39)	missense	probably damaging	0.98
R0501:Adamts2	UTSW	11	50,558,972 (GRCm39)	missense	probably benign	0.16
R0570:Adamts2	UTSW	11	50,666,963 (GRCm39)	missense	probably damaging	1.00
R0588:Adamts2	UTSW	11	50,667,491 (GRCm39)	missense	probably damaging	1.00
R0647:Adamts2	UTSW	11	50,494,265 (GRCm39)	missense	probably damaging	1.00
R0760:Adamts2	UTSW	11	50,666,153 (GRCm39)	missense	probably damaging	1.00
R0784:Adamts2	UTSW	11	50,558,830 (GRCm39)	missense	probably damaging	1.00
R1163:Adamts2	UTSW	11	50,670,541 (GRCm39)	missense	probably damaging	1.00
R1623:Adamts2	UTSW	11	50,558,942 (GRCm39)	missense	possibly damaging	0.79
R1641:Adamts2	UTSW	11	50,683,612 (GRCm39)	missense	probably damaging	1.00
R1779:Adamts2	UTSW	11	50,647,524 (GRCm39)	missense	probably damaging	0.99
R2163:Adamts2	UTSW	11	50,679,632 (GRCm39)	missense	probably benign	0.36
R2177:Adamts2	UTSW	11	50,668,055 (GRCm39)	missense	probably damaging	0.98
R2508:Adamts2	UTSW	11	50,679,516 (GRCm39)	missense	possibly damaging	0.82
R3721:Adamts2	UTSW	11	50,664,038 (GRCm39)	splice site	probably benign
R4092:Adamts2	UTSW	11	50,678,103 (GRCm39)	missense	probably damaging	0.99
R4691:Adamts2	UTSW	11	50,647,523 (GRCm39)	missense	probably damaging	1.00
R4785:Adamts2	UTSW	11	50,683,549 (GRCm39)	missense	probably benign	0.00
R4809:Adamts2	UTSW	11	50,694,517 (GRCm39)	missense	probably benign	0.17
R4823:Adamts2	UTSW	11	50,628,014 (GRCm39)	missense	probably benign	0.26
R4927:Adamts2	UTSW	11	50,694,639 (GRCm39)	nonsense	probably null
R4976:Adamts2	UTSW	11	50,628,193 (GRCm39)	missense	possibly damaging	0.67
R5118:Adamts2	UTSW	11	50,672,696 (GRCm39)	missense	probably damaging	0.99
R5478:Adamts2	UTSW	11	50,683,478 (GRCm39)	missense	possibly damaging	0.83
R5660:Adamts2	UTSW	11	50,667,472 (GRCm39)	missense	probably damaging	1.00
R5734:Adamts2	UTSW	11	50,679,494 (GRCm39)	missense	probably damaging	1.00
R5865:Adamts2	UTSW	11	50,694,781 (GRCm39)	nonsense	probably null
R6079:Adamts2	UTSW	11	50,647,533 (GRCm39)	missense	probably damaging	1.00
R6138:Adamts2	UTSW	11	50,647,533 (GRCm39)	missense	probably damaging	1.00
R6257:Adamts2	UTSW	11	50,666,153 (GRCm39)	missense	probably damaging	1.00
R6540:Adamts2	UTSW	11	50,679,567 (GRCm39)	missense	possibly damaging	0.77
R6897:Adamts2	UTSW	11	50,627,991 (GRCm39)	critical splice acceptor site	probably null
R7103:Adamts2	UTSW	11	50,628,181 (GRCm39)	missense	probably damaging	0.98
R7229:Adamts2	UTSW	11	50,682,647 (GRCm39)	missense	probably damaging	1.00
R7261:Adamts2	UTSW	11	50,677,424 (GRCm39)	missense	possibly damaging	0.48
R7335:Adamts2	UTSW	11	50,493,093 (GRCm39)	missense	probably benign	0.18
R7373:Adamts2	UTSW	11	50,686,262 (GRCm39)	missense	probably benign	0.00
R7505:Adamts2	UTSW	11	50,687,347 (GRCm39)	missense	probably benign	0.00
R7971:Adamts2	UTSW	11	50,647,523 (GRCm39)	missense	probably damaging	1.00
R8081:Adamts2	UTSW	11	50,668,004 (GRCm39)	missense	probably damaging	0.99
R8167:Adamts2	UTSW	11	50,670,541 (GRCm39)	missense	probably damaging	1.00
R8256:Adamts2	UTSW	11	50,683,583 (GRCm39)	missense	probably benign	0.41
R8298:Adamts2	UTSW	11	50,667,958 (GRCm39)	missense	possibly damaging	0.91
R8343:Adamts2	UTSW	11	50,494,315 (GRCm39)	missense	probably damaging	1.00
R8518:Adamts2	UTSW	11	50,666,957 (GRCm39)	missense	probably damaging	1.00
R8716:Adamts2	UTSW	11	50,664,091 (GRCm39)	missense	probably damaging	1.00
R8865:Adamts2	UTSW	11	50,672,571 (GRCm39)	nonsense	probably null
R8968:Adamts2	UTSW	11	50,683,550 (GRCm39)	missense	possibly damaging	0.72
R9436:Adamts2	UTSW	11	50,694,507 (GRCm39)	missense	probably benign	0.00
R9694:Adamts2	UTSW	11	50,558,972 (GRCm39)	missense	probably benign	0.16
R9720:Adamts2	UTSW	11	50,666,954 (GRCm39)	missense	probably damaging	0.97
R9750:Adamts2	UTSW	11	50,494,333 (GRCm39)	missense	probably benign	0.00
U15987:Adamts2	UTSW	11	50,647,533 (GRCm39)	missense	probably damaging	1.00
X0065:Adamts2	UTSW	11	50,694,476 (GRCm39)	nonsense	probably null
Z1176:Adamts2	UTSW	11	50,683,535 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02