Mutagenetix > Incidental Mutation

Incidental Mutation 'R9750:Adamts2'

732475

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

Accession Numbers

Essential gene?

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

Stock #

R9750 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50492912-50698400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50494333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 136 (V136L)

Ref Sequence

ENSEMBL: ENSMUSP00000040171 (fasta)

Gene Model

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

AlphaFold

Q8C9W3

Predicted Effect

probably benign
Transcript: ENSMUST00000040523
AA Change: V136L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: V136L

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: 99.9%
3x: 99.8%
10x: 99.2%
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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	G	T	7: 82,244,589 (GRCm39)	L1348F	probably benign	Het
Amotl1	T	A	9: 14,504,102 (GRCm39)	T369S	probably benign	Het
Anapc2	T	G	2: 25,174,982 (GRCm39)	V700G	possibly damaging	Het
Aox3	C	T	1: 58,215,648 (GRCm39)	Q1027*	probably null	Het
Ap5m1	A	G	14: 49,317,756 (GRCm39)	T338A	probably benign	Het
Carf	T	A	1: 60,171,158 (GRCm39)	Y240*	probably null	Het
Ccl21a	G	A	4: 42,773,875 (GRCm39)	A15V	probably benign	Het
Dcst1	A	T	3: 89,261,462 (GRCm39)	I429N	probably damaging	Het
Esco1	A	G	18: 10,594,510 (GRCm39)	S259P	probably benign	Het
Esp15	A	G	17: 39,955,603 (GRCm39)	M57V	probably benign	Het
Fat3	A	G	9: 15,915,157 (GRCm39)	I1597T	probably benign	Het
Fbxo38	T	C	18: 62,674,061 (GRCm39)	S7G	probably benign	Het
Gm11562	G	A	11: 99,510,856 (GRCm39)	P115S	unknown	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Kansl1l	G	C	1: 66,817,150 (GRCm39)	I403M	probably benign	Het
Kmt2a	T	C	9: 44,747,499 (GRCm39)	H1505R	unknown	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Lpgat1	T	A	1: 191,510,587 (GRCm39)	F391I	probably benign	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mon1a	T	A	9: 107,778,778 (GRCm39)	V334E	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nup210l	A	T	3: 90,117,659 (GRCm39)		probably null	Het
Obscn	G	A	11: 59,024,682 (GRCm39)	R453W	probably benign	Het
Or1d2	A	G	11: 74,255,858 (GRCm39)	D121G	possibly damaging	Het
Pdzd8	A	G	19: 59,289,684 (GRCm39)	V572A	probably benign	Het
Pgr	T	C	9: 8,901,918 (GRCm39)	S484P	possibly damaging	Het
Pygl	G	T	12: 70,245,303 (GRCm39)	S473R	possibly damaging	Het
Samd1	T	C	8: 84,725,989 (GRCm39)	V410A	probably damaging	Het
Serpina3j	T	G	12: 104,280,942 (GRCm39)	H38Q	probably benign	Het
Shprh	A	G	10: 11,040,204 (GRCm39)	Y559C	probably damaging	Het
Skint5	T	A	4: 113,727,866 (GRCm39)	D426V	unknown	Het
Slc25a21	T	C	12: 56,785,382 (GRCm39)	K158R	probably benign	Het
Smc1b	A	T	15: 85,016,106 (GRCm39)	N11K	probably damaging	Het
St18	T	C	1: 6,873,216 (GRCm39)	V317A	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tcap	A	G	11: 98,275,228 (GRCm39)	T121A	probably benign	Het
Tgs1	C	A	4: 3,585,869 (GRCm39)	Q249K	probably damaging	Het
Tiam1	A	T	16: 89,695,394 (GRCm39)	L21Q	probably damaging	Het
Tmem131l	G	A	3: 83,831,358 (GRCm39)	A858V	probably damaging	Het
Trpm3	G	A	19: 22,903,495 (GRCm39)	R927H	probably benign	Het
Wdfy3	T	A	5: 102,077,960 (GRCm39)	H870L	probably benign	Het
Zfp518a	T	A	19: 40,903,889 (GRCm39)	C1273S	possibly damaging	Het
Zfp960	A	T	17: 17,307,898 (GRCm39)	H204L	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
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
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'- TCTCCGCTAAGTCTAACGCC -3'
(R):5'- TTTCCAAAGCCCAGGCAAGAG -3'

Sequencing Primer
(F):5'- TCTTTGGAGACGGCCGG -3'
(R):5'- GCCAGAACAGAAGGGAGCCC -3'

Posted On

2022-11-14