Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02634:Adamts2'

301432

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: 0.093) question?

Stock #

IGL02634

Quality Score

Status

Chromosome

Chromosomal Location

50492912-50698400 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 50683548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 943 (C943*)

Ref Sequence

ENSEMBL: ENSMUSP00000040171 (fasta)

Gene Model

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

AlphaFold

Q8C9W3

Predicted Effect

probably null
Transcript: ENSMUST00000040523
AA Change: C943*

SMART Domains

Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: C943*

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: ENSMUST00000142118

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef28	A	T	13: 98,187,566 (GRCm39)	V243D	probably benign	Het
Arrdc3	T	A	13: 81,038,884 (GRCm39)	I62K	probably damaging	Het
Atm	T	C	9: 53,427,863 (GRCm39)	T416A	probably benign	Het
AW209491	A	G	13: 14,812,268 (GRCm39)	T374A	probably damaging	Het
Brcc3	T	C	X: 74,479,704 (GRCm39)		probably benign	Het
Ccdc181	T	G	1: 164,107,514 (GRCm39)	S66A	probably benign	Het
Ccdc62	T	C	5: 124,092,320 (GRCm39)	I435T	probably benign	Het
Cdc14b	C	A	13: 64,364,117 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,477 (GRCm39)	S48P	probably damaging	Het
Ciita	C	A	16: 10,326,577 (GRCm39)	S253Y	probably damaging	Het
Dock7	C	T	4: 98,877,533 (GRCm39)	R1005H	probably damaging	Het
Dsg4	A	T	18: 20,591,637 (GRCm39)	I459F	probably benign	Het
Enpep	T	C	3: 129,103,506 (GRCm39)	E361G	probably damaging	Het
Fblim1	T	C	4: 141,310,422 (GRCm39)	D280G	probably benign	Het
Fignl1	G	A	11: 11,752,756 (GRCm39)	R100*	probably null	Het
Ggcx	G	T	6: 72,395,286 (GRCm39)	A126S	probably damaging	Het
Hdgfl1	A	G	13: 26,953,786 (GRCm39)	S96P	probably benign	Het
Iqgap2	G	A	13: 95,764,622 (GRCm39)	L1541F	probably damaging	Het
Itga8	T	C	2: 12,145,289 (GRCm39)	E888G	possibly damaging	Het
Kank4	T	A	4: 98,667,064 (GRCm39)	Q461L	probably benign	Het
Klhl20	C	T	1: 160,925,935 (GRCm39)	V438M	probably damaging	Het
Klrc3	A	T	6: 129,620,171 (GRCm39)	S27R	probably damaging	Het
Ksr2	T	C	5: 117,901,394 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,389,938 (GRCm39)	S1829N	probably benign	Het
Obscn	A	G	11: 58,945,611 (GRCm39)	L4585P	probably damaging	Het
Or5p57	T	C	7: 107,665,978 (GRCm39)	N9S	probably benign	Het
Palm3	T	G	8: 84,755,494 (GRCm39)	S335R	probably damaging	Het
Pcsk7	C	T	9: 45,830,560 (GRCm39)	A446V	possibly damaging	Het
Penk	A	G	4: 4,134,065 (GRCm39)	L194P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,403,063 (GRCm39)	F2255S	probably damaging	Het
Plcd3	G	A	11: 102,968,653 (GRCm39)	S31F	probably damaging	Het
Pou2af2	A	G	9: 51,203,055 (GRCm39)	L33P	possibly damaging	Het
Ppp6r2	C	T	15: 89,159,680 (GRCm39)	Q456*	probably null	Het
Rbbp8nl	T	C	2: 179,922,688 (GRCm39)	D235G	probably benign	Het
Ror1	T	A	4: 100,283,307 (GRCm39)	N457K	probably benign	Het
Rpgrip1l	C	A	8: 91,951,972 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 141,595,787 (GRCm39)	F148L	probably benign	Het
Slc45a2	A	T	15: 11,023,440 (GRCm39)	H348L	probably benign	Het
Smg8	C	T	11: 86,977,498 (GRCm39)	A28T	probably benign	Het
Snx14	A	G	9: 88,285,356 (GRCm39)	I436T	probably damaging	Het
Synj2	G	A	17: 6,080,035 (GRCm39)	R1088H	probably damaging	Het
Tubb6	T	C	18: 67,535,366 (GRCm39)	Y422H	probably damaging	Het
Unc13a	T	A	8: 72,108,345 (GRCm39)	I503F	probably benign	Het
Unc13d	A	G	11: 115,961,382 (GRCm39)		probably benign	Het
Zp1	T	C	19: 10,896,871 (GRCm39)		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
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
IGL03012:Adamts2	APN	11	50,667,096 (GRCm39)	splice site	probably benign
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

2015-04-16