Mutagenetix > Incidental Mutation

Incidental Mutation 'R0050:Adamts2'

218463

Institutional Source

Beutler Lab

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

MMRRC Submission

038344-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0050 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

50492912-50698400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50666222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 406 (V406A)

Ref Sequence

ENSEMBL: ENSMUSP00000040171 (fasta)

Gene Model

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

AlphaFold

Q8C9W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000040523
AA Change: V406A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: V406A

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

Meta Mutation Damage Score

0.3974

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (54/55)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,036,417 (GRCm39)	C564Y	probably damaging	Het
Ankar	T	A	1: 72,695,323 (GRCm39)	E1093D	probably damaging	Het
Arhgef38	C	A	3: 132,837,957 (GRCm39)	D75Y	probably damaging	Het
Atg4b	T	A	1: 93,715,440 (GRCm39)		probably benign	Het
Cadm2	A	G	16: 66,750,154 (GRCm39)		probably benign	Het
Ces2c	T	A	8: 105,574,831 (GRCm39)	M96K	probably benign	Het
Dmrt3	C	A	19: 25,599,953 (GRCm39)	P266H	probably damaging	Het
Dock9	A	G	14: 121,844,637 (GRCm39)	V1124A	probably benign	Het
Edem1	T	C	6: 108,805,809 (GRCm39)	F37L	possibly damaging	Het
Ermp1	C	A	19: 29,606,184 (GRCm39)	A190S	probably damaging	Het
Gm10267	T	A	18: 44,289,520 (GRCm39)		probably benign	Het
Golga2	T	A	2: 32,182,139 (GRCm39)	V29D	probably damaging	Het
Gprc6a	T	A	10: 51,491,485 (GRCm39)	M755L	probably damaging	Het
H1f8	G	T	6: 115,924,729 (GRCm39)	K78N	probably damaging	Het
Lama3	T	A	18: 12,537,160 (GRCm39)	H268Q	probably damaging	Het
Lrriq1	A	G	10: 102,904,792 (GRCm39)	V1614A	probably damaging	Het
Oaz2	A	G	9: 65,595,084 (GRCm39)	E61G	probably damaging	Het
Pear1	G	T	3: 87,663,294 (GRCm39)	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,437,203 (GRCm39)	T3493S	possibly damaging	Het
Plekhg5	T	C	4: 152,192,545 (GRCm39)		probably null	Het
Ppp3cb	A	G	14: 20,581,820 (GRCm39)	V65A	possibly damaging	Het
Rheb	A	T	5: 25,022,832 (GRCm39)		probably benign	Het
Ros1	G	A	10: 51,977,899 (GRCm39)	T1449M	probably damaging	Het
Septin4	T	C	11: 87,458,172 (GRCm39)	L182S	probably damaging	Het
Slc6a12	T	C	6: 121,337,378 (GRCm39)		probably benign	Het
Stx2	A	G	5: 129,076,572 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,892,299 (GRCm39)	D764E	probably damaging	Het
Trmt2a	A	T	16: 18,068,707 (GRCm39)	E234D	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGACCTGCACTAGGAAATGAATGCC -3'
(R):5'- TCTCTCAGTAGAAAGCCCACCTCAG -3'

Sequencing Primer
(F):5'- GCCTAAGGTCAGTACAGGAATCTTC -3'
(R):5'- ACCTCAGGCCAGAATGGTG -3'

Posted On

2014-08-11