Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Adamts12'

567342

Institutional Source

Beutler Lab

Gene Symbol

Adamts12

Ensembl Gene

ENSMUSG00000047497

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 12

Synonyms

MMRRC Submission

045366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11064876-11349317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 11217899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 285 (L285F)

Ref Sequence

ENSEMBL: ENSMUSP00000057796 (fasta)

Gene Model

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

AlphaFold

Q811B3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061318
AA Change: L285F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: L285F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 16,936,259 (GRCm39)	P155L	probably benign	Het
Ankrd6	A	T	4: 32,816,949 (GRCm39)	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 79,865,016 (GRCm39)	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,654,549 (GRCm39)		probably null	Het
B4galnt3	T	C	6: 120,192,392 (GRCm39)	D448G	probably benign	Het
Capn1	C	G	19: 6,043,938 (GRCm39)	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,349,384 (GRCm39)	S474P	probably benign	Het
Cdk12	T	A	11: 98,140,626 (GRCm39)	L1289*	probably null	Het
Cramp1	A	T	17: 25,193,719 (GRCm39)	N920K	possibly damaging	Het
Cubn	C	T	2: 13,345,143 (GRCm39)	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,273,960 (GRCm39)	I581N	probably damaging	Het
Dnm2	A	T	9: 21,396,983 (GRCm39)	N487Y	probably damaging	Het
Enc1	A	C	13: 97,381,601 (GRCm39)	N37T	probably damaging	Het
Ephb3	T	G	16: 21,040,976 (GRCm39)	I932S	probably benign	Het
Frk	T	A	10: 34,467,934 (GRCm39)	M316K	probably damaging	Het
Gdap2	C	T	3: 100,109,349 (GRCm39)	R25C	unknown	Het
Gpat2	T	A	2: 127,276,810 (GRCm39)	D671E	probably damaging	Het
Gpr179	C	T	11: 97,229,672 (GRCm39)	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142 (GRCm39)	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,314,833 (GRCm39)	S69N	probably damaging	Het
Hid1	A	C	11: 115,239,308 (GRCm39)	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,233,093 (GRCm39)	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,527,085 (GRCm39)	F120L	probably damaging	Het
Kif16b	C	T	2: 142,554,851 (GRCm39)	R649Q	probably benign	Het
Kif17	A	T	4: 137,989,954 (GRCm39)	E47D	probably benign	Het
Kmt2b	T	C	7: 30,279,896 (GRCm39)	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,747,299 (GRCm39)	S3342T	unknown	Het
Krt82	A	G	15: 101,451,342 (GRCm39)	C356R	probably damaging	Het
Lrit2	A	G	14: 36,794,156 (GRCm39)	K407E	probably benign	Het
Malt1	T	A	18: 65,584,640 (GRCm39)	H325Q	possibly damaging	Het
Mccc2	T	G	13: 100,125,108 (GRCm39)	D187A	possibly damaging	Het
Mgll	T	A	6: 88,791,103 (GRCm39)		probably null	Het
Mindy2	T	G	9: 70,518,241 (GRCm39)	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,396,031 (GRCm39)	V96M	unknown	Het
Nlrp4e	A	G	7: 23,020,953 (GRCm39)	E480G	probably benign	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Or13a26	G	A	7: 140,285,060 (GRCm39)	V299I	probably benign	Het
Or1j4	G	A	2: 36,740,137 (GRCm39)	M26I	probably benign	Het
Or4g7	A	T	2: 111,309,105 (GRCm39)		probably benign	Het
Or52a20	G	T	7: 103,366,173 (GRCm39)	R124L	probably damaging	Het
Pcdhb6	A	T	18: 37,468,531 (GRCm39)	H484L	probably benign	Het
Phldb1	T	C	9: 44,605,344 (GRCm39)	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 71,961,790 (GRCm39)	A275D	probably damaging	Het
Polr2a	A	T	11: 69,638,118 (GRCm39)		probably null	Het
Polr3a	A	G	14: 24,510,055 (GRCm39)	C960R	probably benign	Het
Pou6f2	G	A	13: 18,414,298 (GRCm39)	A159V		Het
Pramel11	A	C	4: 143,623,345 (GRCm39)	Y276*	probably null	Het
Pramel51	A	C	12: 88,148,519 (GRCm39)	C32W	probably damaging	Het
Psmc4	A	G	7: 27,742,085 (GRCm39)	V303A	probably benign	Het
Ptdss2	A	G	7: 140,731,645 (GRCm39)	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,465,004 (GRCm39)	Y1295*	probably null	Het
Rbm19	A	G	5: 120,324,283 (GRCm39)	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,331,993 (GRCm39)	Y183*	probably null	Het
Rnd1	T	C	15: 98,568,680 (GRCm39)	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,464,953 (GRCm39)	C282S	probably damaging	Het
S100b	G	A	10: 76,092,926 (GRCm39)	G20R	probably benign	Het
Sae1	G	T	7: 16,102,469 (GRCm39)	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600 (GRCm39)	G1554*	probably null	Het
Samhd1	T	C	2: 156,976,940 (GRCm39)	S55G	probably benign	Het
Sgsm1	T	C	5: 113,421,512 (GRCm39)	D525G	probably benign	Het
Slc28a3	A	T	13: 58,710,986 (GRCm39)	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,024,151 (GRCm39)	N67K	probably benign	Het
Smarca4	T	A	9: 21,550,096 (GRCm39)	I402N	probably damaging	Het
St7l	T	C	3: 104,796,669 (GRCm39)	F261L	probably benign	Het
Syde2	T	A	3: 145,721,553 (GRCm39)	V1140D	probably damaging	Het
Syt6	T	A	3: 103,494,788 (GRCm39)	I251N	probably damaging	Het
Taok2	T	C	7: 126,465,990 (GRCm39)	E916G	probably damaging	Het
Tecta	A	G	9: 42,289,288 (GRCm39)	S426P	probably damaging	Het
Thra	T	C	11: 98,655,134 (GRCm39)	I338T	probably damaging	Het
Trub1	A	T	19: 57,461,135 (GRCm39)	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,691 (GRCm39)	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,237,664 (GRCm39)	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,567,981 (GRCm39)	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,301,682 (GRCm39)	Y100H	probably damaging	Het

Other mutations in Adamts12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Adamts12	APN	15	11,311,685 (GRCm39)	missense	probably benign	0.00
IGL00513:Adamts12	APN	15	11,257,047 (GRCm39)	missense	probably benign	0.28
IGL00579:Adamts12	APN	15	11,152,100 (GRCm39)	missense	probably benign	0.20
IGL00984:Adamts12	APN	15	11,215,696 (GRCm39)	missense	probably benign	0.01
IGL01307:Adamts12	APN	15	11,237,632 (GRCm39)	missense	possibly damaging	0.88
IGL01314:Adamts12	APN	15	11,071,939 (GRCm39)	missense	probably benign	0.30
IGL01353:Adamts12	APN	15	11,292,091 (GRCm39)	splice site	probably benign
IGL01373:Adamts12	APN	15	11,310,816 (GRCm39)	missense	probably benign	0.00
IGL01522:Adamts12	APN	15	11,065,245 (GRCm39)	critical splice donor site	probably null
IGL01589:Adamts12	APN	15	11,311,323 (GRCm39)	missense	probably benign	0.26
IGL01715:Adamts12	APN	15	11,258,182 (GRCm39)	missense	possibly damaging	0.47
IGL01966:Adamts12	APN	15	11,258,269 (GRCm39)	missense	probably damaging	0.98
IGL01994:Adamts12	APN	15	11,345,680 (GRCm39)	missense	probably damaging	1.00
IGL02058:Adamts12	APN	15	11,215,696 (GRCm39)	missense	probably benign	0.01
IGL02216:Adamts12	APN	15	11,241,571 (GRCm39)	missense	possibly damaging	0.63
IGL02252:Adamts12	APN	15	11,311,101 (GRCm39)	missense	probably benign	0.01
IGL02336:Adamts12	APN	15	11,311,331 (GRCm39)	missense	probably benign	0.02
IGL02445:Adamts12	APN	15	11,286,798 (GRCm39)	missense	probably damaging	1.00
IGL03115:Adamts12	APN	15	11,263,422 (GRCm39)	missense	probably damaging	1.00
IGL03131:Adamts12	APN	15	11,345,650 (GRCm39)	missense	probably damaging	1.00
IGL03161:Adamts12	APN	15	11,292,168 (GRCm39)	missense	possibly damaging	0.93
IGL03403:Adamts12	APN	15	11,241,574 (GRCm39)	missense	probably damaging	1.00
I2289:Adamts12	UTSW	15	11,071,894 (GRCm39)	missense	probably benign	0.13
PIT4677001:Adamts12	UTSW	15	11,286,896 (GRCm39)	missense	probably benign	0.33
R0016:Adamts12	UTSW	15	11,217,915 (GRCm39)	missense	probably damaging	1.00
R0016:Adamts12	UTSW	15	11,217,915 (GRCm39)	missense	probably damaging	1.00
R0027:Adamts12	UTSW	15	11,285,959 (GRCm39)	missense	probably damaging	0.99
R0027:Adamts12	UTSW	15	11,285,959 (GRCm39)	missense	probably damaging	0.99
R0028:Adamts12	UTSW	15	11,215,710 (GRCm39)	missense	probably damaging	1.00
R0108:Adamts12	UTSW	15	11,311,184 (GRCm39)	missense	probably benign	0.08
R0108:Adamts12	UTSW	15	11,311,184 (GRCm39)	missense	probably benign	0.08
R0122:Adamts12	UTSW	15	11,215,710 (GRCm39)	missense	probably damaging	1.00
R0196:Adamts12	UTSW	15	11,071,594 (GRCm39)	missense	probably benign	0.11
R0308:Adamts12	UTSW	15	11,311,646 (GRCm39)	missense	probably damaging	0.98
R0335:Adamts12	UTSW	15	11,311,144 (GRCm39)	missense	possibly damaging	0.95
R0667:Adamts12	UTSW	15	11,215,710 (GRCm39)	missense	probably damaging	1.00
R0729:Adamts12	UTSW	15	11,255,769 (GRCm39)	missense	possibly damaging	0.91
R1162:Adamts12	UTSW	15	11,277,544 (GRCm39)	critical splice donor site	probably null
R1173:Adamts12	UTSW	15	11,071,843 (GRCm39)	missense	probably benign
R1174:Adamts12	UTSW	15	11,071,843 (GRCm39)	missense	probably benign
R1319:Adamts12	UTSW	15	11,286,877 (GRCm39)	missense	probably benign	0.02
R1344:Adamts12	UTSW	15	11,286,890 (GRCm39)	missense	probably damaging	1.00
R1367:Adamts12	UTSW	15	11,256,980 (GRCm39)	splice site	probably benign
R1396:Adamts12	UTSW	15	11,311,558 (GRCm39)	missense	probably benign	0.01
R1418:Adamts12	UTSW	15	11,286,890 (GRCm39)	missense	probably damaging	1.00
R1447:Adamts12	UTSW	15	11,263,447 (GRCm39)	missense	probably benign	0.42
R1466:Adamts12	UTSW	15	11,311,445 (GRCm39)	missense	probably benign
R1466:Adamts12	UTSW	15	11,311,445 (GRCm39)	missense	probably benign
R1599:Adamts12	UTSW	15	11,071,797 (GRCm39)	missense	probably damaging	0.99
R1700:Adamts12	UTSW	15	11,152,143 (GRCm39)	missense	probably benign	0.00
R1748:Adamts12	UTSW	15	11,241,548 (GRCm39)	missense	probably damaging	0.99
R1826:Adamts12	UTSW	15	11,071,606 (GRCm39)	missense	probably benign	0.06
R1870:Adamts12	UTSW	15	11,311,240 (GRCm39)	missense	probably benign	0.06
R1871:Adamts12	UTSW	15	11,311,240 (GRCm39)	missense	probably benign	0.06
R1872:Adamts12	UTSW	15	11,217,966 (GRCm39)	nonsense	probably null
R1931:Adamts12	UTSW	15	11,270,685 (GRCm39)	missense	probably benign	0.00
R2041:Adamts12	UTSW	15	11,215,821 (GRCm39)	missense	probably damaging	1.00
R2119:Adamts12	UTSW	15	11,310,665 (GRCm39)	missense	probably damaging	1.00
R2120:Adamts12	UTSW	15	11,310,665 (GRCm39)	missense	probably damaging	1.00
R2122:Adamts12	UTSW	15	11,310,665 (GRCm39)	missense	probably damaging	1.00
R2161:Adamts12	UTSW	15	11,215,821 (GRCm39)	missense	probably damaging	0.99
R2655:Adamts12	UTSW	15	11,065,174 (GRCm39)	missense	possibly damaging	0.50
R4010:Adamts12	UTSW	15	11,286,169 (GRCm39)	missense	possibly damaging	0.69
R4208:Adamts12	UTSW	15	11,071,840 (GRCm39)	missense	probably benign
R4666:Adamts12	UTSW	15	11,311,578 (GRCm39)	missense	probably benign	0.08
R4731:Adamts12	UTSW	15	11,270,748 (GRCm39)	missense	probably damaging	1.00
R4732:Adamts12	UTSW	15	11,270,748 (GRCm39)	missense	probably damaging	1.00
R4733:Adamts12	UTSW	15	11,270,748 (GRCm39)	missense	probably damaging	1.00
R4766:Adamts12	UTSW	15	11,285,987 (GRCm39)	missense	probably benign	0.03
R4877:Adamts12	UTSW	15	11,327,787 (GRCm39)	missense	probably damaging	1.00
R4929:Adamts12	UTSW	15	11,259,108 (GRCm39)	missense	probably damaging	0.96
R5060:Adamts12	UTSW	15	11,300,054 (GRCm39)	missense	probably damaging	1.00
R5145:Adamts12	UTSW	15	11,285,962 (GRCm39)	missense	probably damaging	1.00
R5191:Adamts12	UTSW	15	11,327,843 (GRCm39)	missense	probably benign	0.18
R5492:Adamts12	UTSW	15	11,336,384 (GRCm39)	missense	probably benign	0.05
R5580:Adamts12	UTSW	15	11,152,086 (GRCm39)	missense	probably benign	0.14
R5645:Adamts12	UTSW	15	11,277,506 (GRCm39)	missense	possibly damaging	0.92
R5724:Adamts12	UTSW	15	11,286,836 (GRCm39)	missense	probably benign	0.15
R6240:Adamts12	UTSW	15	11,286,044 (GRCm39)	missense	probably benign	0.44
R6331:Adamts12	UTSW	15	11,241,519 (GRCm39)	missense	probably damaging	1.00
R6381:Adamts12	UTSW	15	11,257,080 (GRCm39)	missense	possibly damaging	0.93
R6393:Adamts12	UTSW	15	11,255,721 (GRCm39)	missense	probably damaging	0.97
R6419:Adamts12	UTSW	15	11,215,759 (GRCm39)	missense	possibly damaging	0.72
R6571:Adamts12	UTSW	15	11,065,187 (GRCm39)	missense	probably benign	0.00
R6821:Adamts12	UTSW	15	11,152,134 (GRCm39)	missense	probably benign	0.14
R6913:Adamts12	UTSW	15	11,215,778 (GRCm39)	missense	probably damaging	1.00
R6973:Adamts12	UTSW	15	11,331,866 (GRCm39)	nonsense	probably null
R7188:Adamts12	UTSW	15	11,336,411 (GRCm39)	nonsense	probably null
R7290:Adamts12	UTSW	15	11,277,452 (GRCm39)	missense	probably benign	0.08
R7376:Adamts12	UTSW	15	11,277,425 (GRCm39)	missense	possibly damaging	0.69
R7419:Adamts12	UTSW	15	11,317,365 (GRCm39)	missense	probably benign	0.00
R7484:Adamts12	UTSW	15	11,345,734 (GRCm39)	missense	probably benign	0.25
R7562:Adamts12	UTSW	15	11,270,697 (GRCm39)	missense	probably benign	0.01
R7653:Adamts12	UTSW	15	11,257,115 (GRCm39)	missense	probably benign	0.28
R7696:Adamts12	UTSW	15	11,258,224 (GRCm39)	missense	probably damaging	1.00
R7957:Adamts12	UTSW	15	11,317,298 (GRCm39)	missense	possibly damaging	0.96
R7980:Adamts12	UTSW	15	11,263,423 (GRCm39)	missense	probably damaging	1.00
R7992:Adamts12	UTSW	15	11,310,904 (GRCm39)	missense	probably benign
R8032:Adamts12	UTSW	15	11,259,189 (GRCm39)	critical splice donor site	probably null
R8109:Adamts12	UTSW	15	11,331,877 (GRCm39)	missense	probably benign	0.02
R8402:Adamts12	UTSW	15	11,263,376 (GRCm39)	missense	probably damaging	0.96
R8751:Adamts12	UTSW	15	11,215,813 (GRCm39)	missense	probably damaging	1.00
R8782:Adamts12	UTSW	15	11,237,678 (GRCm39)	missense	probably damaging	1.00
R8934:Adamts12	UTSW	15	11,300,015 (GRCm39)	missense	probably damaging	0.99
R8952:Adamts12	UTSW	15	11,286,065 (GRCm39)	missense	probably damaging	1.00
R8963:Adamts12	UTSW	15	11,317,443 (GRCm39)	critical splice donor site	probably null
R9042:Adamts12	UTSW	15	11,152,134 (GRCm39)	missense	probably benign	0.08
R9162:Adamts12	UTSW	15	11,311,721 (GRCm39)	missense	probably benign	0.29
R9190:Adamts12	UTSW	15	11,336,446 (GRCm39)	missense	probably benign	0.02
R9700:Adamts12	UTSW	15	11,311,442 (GRCm39)	missense	probably benign	0.04
R9748:Adamts12	UTSW	15	11,310,628 (GRCm39)	missense	probably damaging	0.99
V1662:Adamts12	UTSW	15	11,071,894 (GRCm39)	missense	probably benign	0.13
X0022:Adamts12	UTSW	15	11,277,534 (GRCm39)	missense	probably benign	0.30
Z1176:Adamts12	UTSW	15	11,336,469 (GRCm39)	missense	not run
Z1177:Adamts12	UTSW	15	11,336,469 (GRCm39)	missense	not run
Z1177:Adamts12	UTSW	15	11,317,410 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGGCGTCTTTAAATATCACAG -3'
(R):5'- TCCCACCCAATATTGCTGAAG -3'

Sequencing Primer
(F):5'- GTGTAAACTGAGATTTAGTCTTCGC -3'
(R):5'- ATTTCAAAAATCCCGTGTAGAGACC -3'

Posted On

2019-06-26