Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Adamts12'

441097

Institutional Source

Beutler Lab

Gene Symbol

Adamts12

Ensembl Gene

ENSMUSG00000047497

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 12

Synonyms

AI605170; ADAMTS-12

MMRRC Submission

043293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11064790-11349231 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11277420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 707 (T707A)

Ref Sequence

ENSEMBL: ENSMUSP00000057796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061318]

AlphaFold

Q811B3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061318
AA Change: T707A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: T707A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Pep_M12B_propep	53	197	5.5e-30	PFAM
low complexity region	236	245	N/A	INTRINSIC
Pfam:Reprolysin_5	248	438	1.6e-14	PFAM
Pfam:Reprolysin_4	248	453	6.7e-8	PFAM
Pfam:Reprolysin	250	460	1.2e-27	PFAM
Pfam:Reprolysin_2	268	450	5.5e-11	PFAM
Pfam:Reprolysin_3	272	407	3.5e-10	PFAM
TSP1	549	601	9.29e-14	SMART
Pfam:ADAM_spacer1	706	817	4.8e-36	PFAM
TSP1	831	887	4.66e-5	SMART
TSP1	890	949	2.54e-1	SMART
TSP1	951	1001	8.95e-7	SMART
low complexity region	1032	1047	N/A	INTRINSIC
low complexity region	1130	1141	N/A	INTRINSIC
TSP1	1321	1371	2.22e-2	SMART
TSP1	1372	1431	9.97e-2	SMART
TSP1	1432	1479	1.19e-2	SMART
TSP1	1480	1538	2.63e-4	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Mice lacking the encoded protein exhibit increased angiogenic response and tumor invasion in different models of angiogenesis and, severe inflammation and delayed recovery when subjected to experimental conditions that induce colitis, endotoxic sepsis and pancreatitis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,397,204 (GRCm38)	I169V	probably damaging	Het
2310007B03Rik	T	C	1: 93,152,946 (GRCm38)	T413A	probably damaging	Het
4930503B20Rik	C	T	3: 146,650,509 (GRCm38)	E215K	probably damaging	Het
5830411N06Rik	G	A	7: 140,248,940 (GRCm38)	V171I	possibly damaging	Het
Abca6	T	C	11: 110,250,408 (GRCm38)	E29G	probably damaging	Het
Acsm1	A	G	7: 119,640,697 (GRCm38)	H288R	probably damaging	Het
Adcy2	C	A	13: 68,729,202 (GRCm38)		probably null	Het
Agbl4	A	T	4: 111,657,330 (GRCm38)	I513F	possibly damaging	Het
Ak5	A	T	3: 152,656,033 (GRCm38)	M84K	possibly damaging	Het
Akap1	T	C	11: 88,845,627 (GRCm38)	T103A	probably benign	Het
Akap9	A	G	5: 4,050,590 (GRCm38)	T2751A	probably benign	Het
Amer3	A	T	1: 34,588,381 (GRCm38)	H567L	possibly damaging	Het
Ano6	A	G	15: 95,920,351 (GRCm38)	Y325C	probably benign	Het
Apba2	A	G	7: 64,695,806 (GRCm38)	E248G	possibly damaging	Het
Asap2	T	A	12: 21,265,982 (GRCm38)	V967E	probably damaging	Het
Boc	A	G	16: 44,499,661 (GRCm38)	V320A	probably damaging	Het
Car13	T	A	3: 14,645,120 (GRCm38)	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,552,356 (GRCm38)	T1976A	probably benign	Het
Cep295	C	A	9: 15,335,108 (GRCm38)	S684I	possibly damaging	Het
Cep295	A	T	9: 15,332,794 (GRCm38)	H1455Q	probably damaging	Het
Cr2	G	T	1: 195,154,273 (GRCm38)	H861N	probably damaging	Het
Cul5	T	C	9: 53,622,943 (GRCm38)	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,994,152 (GRCm38)	V145I	probably benign	Het
Dnmt1	G	A	9: 20,922,147 (GRCm38)	T500M	probably damaging	Het
Fam161a	T	A	11: 23,015,725 (GRCm38)	I6N	probably damaging	Het
Fam214a	T	A	9: 75,025,679 (GRCm38)	V976E	probably damaging	Het
Fry	T	C	5: 150,380,867 (GRCm38)	V574A	probably damaging	Het
Glb1l3	G	T	9: 26,824,826 (GRCm38)	L553I	probably benign	Het
Gm1123	T	C	9: 99,014,191 (GRCm38)	D212G	probably benign	Het
Grin2a	T	A	16: 9,992,226 (GRCm38)	D103V	probably damaging	Het
Heg1	A	G	16: 33,706,963 (GRCm38)	I98V	probably benign	Het
Hmcn2	C	A	2: 31,420,812 (GRCm38)	T3356N	possibly damaging	Het
Hpf1	T	G	8: 60,896,800 (GRCm38)	I154S	possibly damaging	Het
Ifnar2	A	G	16: 91,404,227 (GRCm38)	D452G	possibly damaging	Het
Ikbkap	T	C	4: 56,776,920 (GRCm38)	T626A	possibly damaging	Het
Iqcc	A	T	4: 129,616,527 (GRCm38)	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,117,699 (GRCm38)	I669T	probably damaging	Het
Itgae	A	G	11: 73,129,248 (GRCm38)	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,801,344 (GRCm38)	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426 (GRCm38)	D600G	possibly damaging	Het
Klf13	G	A	7: 63,891,600 (GRCm38)		probably benign	Het
Kmt2d	A	G	15: 98,844,397 (GRCm38)		probably benign	Het
Lama1	A	G	17: 67,802,948 (GRCm38)	D2188G	probably damaging	Het
Leng8	A	G	7: 4,145,274 (GRCm38)	T682A	probably damaging	Het
Mslnl	G	T	17: 25,737,842 (GRCm38)	G34V	possibly damaging	Het
Mycbp2	C	A	14: 103,188,615 (GRCm38)		probably null	Het
Mycbp2	A	T	14: 103,188,608 (GRCm38)	S2360R	probably damaging	Het
Nkx2-2	T	C	2: 147,184,399 (GRCm38)	T140A	probably damaging	Het
Olfr1233	A	T	2: 89,339,705 (GRCm38)	V199E	possibly damaging	Het
Olfr745	T	C	14: 50,643,067 (GRCm38)	V262A	probably benign	Het
Oser1	C	T	2: 163,407,045 (GRCm38)	R79H	probably damaging	Het
Pfas	A	G	11: 68,991,132 (GRCm38)	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,532,992 (GRCm38)	E1970G	probably benign	Het
Prph2	G	T	17: 46,910,667 (GRCm38)		probably benign	Het
Rusc2	G	T	4: 43,425,758 (GRCm38)	A1288S	probably benign	Het
Sdha	A	G	13: 74,323,839 (GRCm38)		probably null	Het
Sec16a	T	G	2: 26,439,895 (GRCm38)	T703P	probably benign	Het
Senp7	T	A	16: 56,173,208 (GRCm38)	N724K	possibly damaging	Het
Skint1	A	G	4: 112,025,502 (GRCm38)	I248V	probably benign	Het
Slc9a5	T	C	8: 105,357,013 (GRCm38)	V395A	probably benign	Het
Slco1a4	T	C	6: 141,834,659 (GRCm38)	N135S	possibly damaging	Het
Sncaip	A	G	18: 52,894,956 (GRCm38)	I412M	probably damaging	Het
Tacc2	A	T	7: 130,624,051 (GRCm38)	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,351,837 (GRCm38)	H281Q	probably benign	Het
Tex46	G	T	4: 136,612,917 (GRCm38)	M104I	probably benign	Het
Tjp3	T	C	10: 81,278,620 (GRCm38)		probably null	Het
Treh	A	G	9: 44,682,678 (GRCm38)	Y154C	probably damaging	Het
Trim80	T	A	11: 115,446,785 (GRCm38)	L428Q	probably damaging	Het
Trpm6	A	G	19: 18,853,604 (GRCm38)	K1278E	probably damaging	Het
Usp34	T	C	11: 23,375,024 (GRCm38)	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,247,748 (GRCm38)	S267P	probably benign	Het
Ywhae	T	C	11: 75,756,924 (GRCm38)	M160T	probably benign	Het
Zcchc11	G	A	4: 108,557,373 (GRCm38)	R49H	probably damaging	Het

Other mutations in Adamts12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Adamts12	APN	15	11,311,599 (GRCm38)	missense	probably benign	0.00
IGL00513:Adamts12	APN	15	11,256,961 (GRCm38)	missense	probably benign	0.28
IGL00579:Adamts12	APN	15	11,152,014 (GRCm38)	missense	probably benign	0.20
IGL00984:Adamts12	APN	15	11,215,610 (GRCm38)	missense	probably benign	0.01
IGL01307:Adamts12	APN	15	11,237,546 (GRCm38)	missense	possibly damaging	0.88
IGL01314:Adamts12	APN	15	11,071,853 (GRCm38)	missense	probably benign	0.30
IGL01353:Adamts12	APN	15	11,292,005 (GRCm38)	splice site	probably benign
IGL01373:Adamts12	APN	15	11,310,730 (GRCm38)	missense	probably benign	0.00
IGL01522:Adamts12	APN	15	11,065,159 (GRCm38)	critical splice donor site	probably null
IGL01589:Adamts12	APN	15	11,311,237 (GRCm38)	missense	probably benign	0.26
IGL01715:Adamts12	APN	15	11,258,096 (GRCm38)	missense	possibly damaging	0.47
IGL01966:Adamts12	APN	15	11,258,183 (GRCm38)	missense	probably damaging	0.98
IGL01994:Adamts12	APN	15	11,345,594 (GRCm38)	missense	probably damaging	1.00
IGL02058:Adamts12	APN	15	11,215,610 (GRCm38)	missense	probably benign	0.01
IGL02216:Adamts12	APN	15	11,241,485 (GRCm38)	missense	possibly damaging	0.63
IGL02252:Adamts12	APN	15	11,311,015 (GRCm38)	missense	probably benign	0.01
IGL02336:Adamts12	APN	15	11,311,245 (GRCm38)	missense	probably benign	0.02
IGL02445:Adamts12	APN	15	11,286,712 (GRCm38)	missense	probably damaging	1.00
IGL03115:Adamts12	APN	15	11,263,336 (GRCm38)	missense	probably damaging	1.00
IGL03131:Adamts12	APN	15	11,345,564 (GRCm38)	missense	probably damaging	1.00
IGL03161:Adamts12	APN	15	11,292,082 (GRCm38)	missense	possibly damaging	0.93
IGL03403:Adamts12	APN	15	11,241,488 (GRCm38)	missense	probably damaging	1.00
I2289:Adamts12	UTSW	15	11,071,808 (GRCm38)	missense	probably benign	0.13
PIT4677001:Adamts12	UTSW	15	11,286,810 (GRCm38)	missense	probably benign	0.33
R0016:Adamts12	UTSW	15	11,217,829 (GRCm38)	missense	probably damaging	1.00
R0016:Adamts12	UTSW	15	11,217,829 (GRCm38)	missense	probably damaging	1.00
R0027:Adamts12	UTSW	15	11,285,873 (GRCm38)	missense	probably damaging	0.99
R0027:Adamts12	UTSW	15	11,285,873 (GRCm38)	missense	probably damaging	0.99
R0028:Adamts12	UTSW	15	11,215,624 (GRCm38)	missense	probably damaging	1.00
R0108:Adamts12	UTSW	15	11,311,098 (GRCm38)	missense	probably benign	0.08
R0108:Adamts12	UTSW	15	11,311,098 (GRCm38)	missense	probably benign	0.08
R0122:Adamts12	UTSW	15	11,215,624 (GRCm38)	missense	probably damaging	1.00
R0196:Adamts12	UTSW	15	11,071,508 (GRCm38)	missense	probably benign	0.11
R0308:Adamts12	UTSW	15	11,311,560 (GRCm38)	missense	probably damaging	0.98
R0335:Adamts12	UTSW	15	11,311,058 (GRCm38)	missense	possibly damaging	0.95
R0667:Adamts12	UTSW	15	11,215,624 (GRCm38)	missense	probably damaging	1.00
R0729:Adamts12	UTSW	15	11,255,683 (GRCm38)	missense	possibly damaging	0.91
R1162:Adamts12	UTSW	15	11,277,458 (GRCm38)	critical splice donor site	probably null
R1173:Adamts12	UTSW	15	11,071,757 (GRCm38)	missense	probably benign
R1174:Adamts12	UTSW	15	11,071,757 (GRCm38)	missense	probably benign
R1319:Adamts12	UTSW	15	11,286,791 (GRCm38)	missense	probably benign	0.02
R1344:Adamts12	UTSW	15	11,286,804 (GRCm38)	missense	probably damaging	1.00
R1367:Adamts12	UTSW	15	11,256,894 (GRCm38)	splice site	probably benign
R1396:Adamts12	UTSW	15	11,311,472 (GRCm38)	missense	probably benign	0.01
R1418:Adamts12	UTSW	15	11,286,804 (GRCm38)	missense	probably damaging	1.00
R1447:Adamts12	UTSW	15	11,263,361 (GRCm38)	missense	probably benign	0.42
R1466:Adamts12	UTSW	15	11,311,359 (GRCm38)	missense	probably benign
R1466:Adamts12	UTSW	15	11,311,359 (GRCm38)	missense	probably benign
R1599:Adamts12	UTSW	15	11,071,711 (GRCm38)	missense	probably damaging	0.99
R1700:Adamts12	UTSW	15	11,152,057 (GRCm38)	missense	probably benign	0.00
R1748:Adamts12	UTSW	15	11,241,462 (GRCm38)	missense	probably damaging	0.99
R1826:Adamts12	UTSW	15	11,071,520 (GRCm38)	missense	probably benign	0.06
R1870:Adamts12	UTSW	15	11,311,154 (GRCm38)	missense	probably benign	0.06
R1871:Adamts12	UTSW	15	11,311,154 (GRCm38)	missense	probably benign	0.06
R1872:Adamts12	UTSW	15	11,217,880 (GRCm38)	nonsense	probably null
R1931:Adamts12	UTSW	15	11,270,599 (GRCm38)	missense	probably benign	0.00
R2041:Adamts12	UTSW	15	11,215,735 (GRCm38)	missense	probably damaging	1.00
R2119:Adamts12	UTSW	15	11,310,579 (GRCm38)	missense	probably damaging	1.00
R2120:Adamts12	UTSW	15	11,310,579 (GRCm38)	missense	probably damaging	1.00
R2122:Adamts12	UTSW	15	11,310,579 (GRCm38)	missense	probably damaging	1.00
R2161:Adamts12	UTSW	15	11,215,735 (GRCm38)	missense	probably damaging	0.99
R2655:Adamts12	UTSW	15	11,065,088 (GRCm38)	missense	possibly damaging	0.50
R4010:Adamts12	UTSW	15	11,286,083 (GRCm38)	missense	possibly damaging	0.69
R4208:Adamts12	UTSW	15	11,071,754 (GRCm38)	missense	probably benign
R4666:Adamts12	UTSW	15	11,311,492 (GRCm38)	missense	probably benign	0.08
R4731:Adamts12	UTSW	15	11,270,662 (GRCm38)	missense	probably damaging	1.00
R4732:Adamts12	UTSW	15	11,270,662 (GRCm38)	missense	probably damaging	1.00
R4733:Adamts12	UTSW	15	11,270,662 (GRCm38)	missense	probably damaging	1.00
R4766:Adamts12	UTSW	15	11,285,901 (GRCm38)	missense	probably benign	0.03
R4877:Adamts12	UTSW	15	11,327,701 (GRCm38)	missense	probably damaging	1.00
R4929:Adamts12	UTSW	15	11,259,022 (GRCm38)	missense	probably damaging	0.96
R5060:Adamts12	UTSW	15	11,299,968 (GRCm38)	missense	probably damaging	1.00
R5145:Adamts12	UTSW	15	11,285,876 (GRCm38)	missense	probably damaging	1.00
R5191:Adamts12	UTSW	15	11,327,757 (GRCm38)	missense	probably benign	0.18
R5492:Adamts12	UTSW	15	11,336,298 (GRCm38)	missense	probably benign	0.05
R5580:Adamts12	UTSW	15	11,152,000 (GRCm38)	missense	probably benign	0.14
R5724:Adamts12	UTSW	15	11,286,750 (GRCm38)	missense	probably benign	0.15
R6240:Adamts12	UTSW	15	11,285,958 (GRCm38)	missense	probably benign	0.44
R6331:Adamts12	UTSW	15	11,241,433 (GRCm38)	missense	probably damaging	1.00
R6381:Adamts12	UTSW	15	11,256,994 (GRCm38)	missense	possibly damaging	0.93
R6393:Adamts12	UTSW	15	11,255,635 (GRCm38)	missense	probably damaging	0.97
R6419:Adamts12	UTSW	15	11,215,673 (GRCm38)	missense	possibly damaging	0.72
R6571:Adamts12	UTSW	15	11,065,101 (GRCm38)	missense	probably benign	0.00
R6821:Adamts12	UTSW	15	11,152,048 (GRCm38)	missense	probably benign	0.14
R6913:Adamts12	UTSW	15	11,215,692 (GRCm38)	missense	probably damaging	1.00
R6973:Adamts12	UTSW	15	11,331,780 (GRCm38)	nonsense	probably null
R7188:Adamts12	UTSW	15	11,336,325 (GRCm38)	nonsense	probably null
R7290:Adamts12	UTSW	15	11,277,366 (GRCm38)	missense	probably benign	0.08
R7307:Adamts12	UTSW	15	11,217,813 (GRCm38)	missense	probably damaging	1.00
R7376:Adamts12	UTSW	15	11,277,339 (GRCm38)	missense	possibly damaging	0.69
R7419:Adamts12	UTSW	15	11,317,279 (GRCm38)	missense	probably benign	0.00
R7484:Adamts12	UTSW	15	11,345,648 (GRCm38)	missense	probably benign	0.25
R7562:Adamts12	UTSW	15	11,270,611 (GRCm38)	missense	probably benign	0.01
R7653:Adamts12	UTSW	15	11,257,029 (GRCm38)	missense	probably benign	0.28
R7696:Adamts12	UTSW	15	11,258,138 (GRCm38)	missense	probably damaging	1.00
R7957:Adamts12	UTSW	15	11,317,212 (GRCm38)	missense	possibly damaging	0.96
R7980:Adamts12	UTSW	15	11,263,337 (GRCm38)	missense	probably damaging	1.00
R7992:Adamts12	UTSW	15	11,310,818 (GRCm38)	missense	probably benign
R8032:Adamts12	UTSW	15	11,259,103 (GRCm38)	critical splice donor site	probably null
R8109:Adamts12	UTSW	15	11,331,791 (GRCm38)	missense	probably benign	0.02
R8402:Adamts12	UTSW	15	11,263,290 (GRCm38)	missense	probably damaging	0.96
R8751:Adamts12	UTSW	15	11,215,727 (GRCm38)	missense	probably damaging	1.00
R8782:Adamts12	UTSW	15	11,237,592 (GRCm38)	missense	probably damaging	1.00
R8934:Adamts12	UTSW	15	11,299,929 (GRCm38)	missense	probably damaging	0.99
R8952:Adamts12	UTSW	15	11,285,979 (GRCm38)	missense	probably damaging	1.00
R8963:Adamts12	UTSW	15	11,317,357 (GRCm38)	critical splice donor site	probably null
R9042:Adamts12	UTSW	15	11,152,048 (GRCm38)	missense	probably benign	0.08
R9162:Adamts12	UTSW	15	11,311,635 (GRCm38)	missense	probably benign	0.29
R9190:Adamts12	UTSW	15	11,336,360 (GRCm38)	missense	probably benign	0.02
R9700:Adamts12	UTSW	15	11,311,356 (GRCm38)	missense	probably benign	0.04
R9748:Adamts12	UTSW	15	11,310,542 (GRCm38)	missense	probably damaging	0.99
V1662:Adamts12	UTSW	15	11,071,808 (GRCm38)	missense	probably benign	0.13
X0022:Adamts12	UTSW	15	11,277,448 (GRCm38)	missense	probably benign	0.30
Z1176:Adamts12	UTSW	15	11,336,383 (GRCm38)	missense	not run
Z1177:Adamts12	UTSW	15	11,336,383 (GRCm38)	missense	not run
Z1177:Adamts12	UTSW	15	11,317,324 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCAATAGGAGGGTGCTTTAG -3'
(R):5'- CCTGTAACTACCAAATGGAGCTG -3'

Sequencing Primer
(F):5'- CCAATAGGAGGGTGCTTTAGTTATC -3'
(R):5'- CTACCAAATGGAGCTGATTTCTTG -3'

Posted On

2016-11-08