Mutagenetix > Incidental Mutation

Incidental Mutation 'R6540:Adamts2'

520704

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

044666-MU

Accession Numbers

Essential gene?

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

Stock #

R6540 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50492912-50698400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50679567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 849 (V849A)

Ref Sequence

ENSEMBL: ENSMUSP00000040171 (fasta)

Gene Model

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

AlphaFold

Q8C9W3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040523
AA Change: V849A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: V849A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,660,779 (GRCm39)	Y143H	possibly damaging	Het
Aco1	G	A	4: 40,186,367 (GRCm39)	R593Q	probably benign	Het
Ash1l	A	T	3: 88,892,368 (GRCm39)	T1416S	probably damaging	Het
Cdc5l	A	G	17: 45,737,570 (GRCm39)	W63R	probably damaging	Het
Cep95	T	A	11: 106,692,328 (GRCm39)	D169E	probably damaging	Het
Col14a1	A	C	15: 55,235,977 (GRCm39)	N297T	unknown	Het
Cp	T	C	3: 20,018,693 (GRCm39)		probably null	Het
Fbxl19	G	T	7: 127,347,525 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,446,376 (GRCm39)	V931A	possibly damaging	Het
Foxj2	A	G	6: 122,810,202 (GRCm39)	H187R	probably benign	Het
Hectd4	G	A	5: 121,441,634 (GRCm39)	V1199I	probably benign	Het
Ighv7-4	A	G	12: 114,186,470 (GRCm39)	Y101H	possibly damaging	Het
Igkv10-94	T	A	6: 68,681,507 (GRCm39)	Y111F	probably benign	Het
Lin28a	C	T	4: 133,745,372 (GRCm39)	V74M	possibly damaging	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mroh9	T	G	1: 162,866,541 (GRCm39)	T701P	possibly damaging	Het
Ndst4	A	T	3: 125,515,801 (GRCm39)	K309*	probably null	Het
Nlrp9a	T	C	7: 26,256,817 (GRCm39)	V145A	possibly damaging	Het
Or2l5	T	C	16: 19,333,571 (GRCm39)	I272V	probably benign	Het
Ovgp1	A	T	3: 105,893,897 (GRCm39)	K557*	probably null	Het
Pde4b	T	C	4: 102,459,073 (GRCm39)	L546P	probably damaging	Het
Pkd1	G	A	17: 24,794,951 (GRCm39)	V2213M	probably damaging	Het
Plekhh1	A	G	12: 79,111,263 (GRCm39)	I542V	probably benign	Het
Ppan	A	G	9: 20,802,506 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,637,005 (GRCm39)	V104E	probably benign	Het
Semp2l2a	A	C	8: 13,887,573 (GRCm39)	S173A	probably benign	Het
Sik3	A	G	9: 46,123,351 (GRCm39)	H1050R	probably benign	Het
Slc35d3	A	G	10: 19,725,086 (GRCm39)	F257L	possibly damaging	Het
Tfip11	A	G	5: 112,482,263 (GRCm39)		probably null	Het
Tmem132d	A	G	5: 128,345,596 (GRCm39)	S309P	possibly damaging	Het
Tmem87a	T	C	2: 120,234,400 (GRCm39)	I48V	probably benign	Het
V1rd19	T	A	7: 23,703,056 (GRCm39)	L174*	probably null	Het
Zfp729a	A	G	13: 67,767,767 (GRCm39)	C821R	possibly damaging	Het
Zfp970	C	A	2: 177,167,388 (GRCm39)	H321N	probably damaging	Het
Zzef1	T	C	11: 72,804,055 (GRCm39)	L2599P	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
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
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'- GTCTACCTGATGCCTCTAAATTGG -3'
(R):5'- GCATTTCTCATCCTTGGCAAAG -3'

Sequencing Primer
(F):5'- GCCTCTAAATTGGCTATAGAGGG -3'
(R):5'- TACTGTTGGCCCAGGAAGCTTC -3'

Posted On

2018-06-06