Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00474:Adam12'

5113

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam12

Ensembl Gene

ENSMUSG00000054555

Gene Name

ADAM metallopeptidase domain 12

Synonyms

Mltna, ADAM12

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

IGL00474

Quality Score

Status

Chromosome

Chromosomal Location

133484928-133826826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133511610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 730 (K730R)

Ref Sequence

ENSEMBL: ENSMUSP00000065213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067680] [ENSMUST00000138363]

AlphaFold

Q61824

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067680
AA Change: K730R

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: K730R

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:Pep_M12B_propep	35	165	1.1e-27	PFAM
Pfam:Reprolysin_5	210	392	2.1e-24	PFAM
Pfam:Reprolysin_4	210	408	3.8e-16	PFAM
Pfam:Reprolysin	212	414	1.4e-74	PFAM
Pfam:Reprolysin_2	232	404	6e-18	PFAM
Pfam:Reprolysin_3	236	359	1.3e-16	PFAM
DISIN	431	506	4.29e-42	SMART
ACR	507	650	1.75e-67	SMART
transmembrane domain	705	727	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138363
AA Change: K408R

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114874
Gene: ENSMUSG00000054555
AA Change: K408R

Domain	Start	End	E-Value	Type
Pfam:Reprolysin	4	92	4.5e-24	PFAM
Pfam:Reprolysin_2	6	82	2.1e-11	PFAM
Pfam:Reprolysin_5	9	70	2.8e-11	PFAM
Pfam:Reprolysin_4	11	87	8.9e-8	PFAM
DISIN	109	184	4.29e-42	SMART
ACR	185	328	1.75e-67	SMART
transmembrane domain	383	405	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein that localizes to the cell surface. About a third of the mice lacking the encoded protein die before weaning. Overexpression of the encoded protein in a mouse model of Duchenne muscular dystrophy alleviates the muscle pathology by preventing cell necrosis and inflammation. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	T	C	17: 42,986,650 (GRCm39)	I36M	probably damaging	Het
Atp2a1	A	T	7: 126,049,466 (GRCm39)	C525*	probably null	Het
Col11a1	A	C	3: 113,860,182 (GRCm39)	M203L	unknown	Het
Duox2	T	A	2: 122,114,056 (GRCm39)	M1159L	probably benign	Het
Harbi1	T	G	2: 91,542,971 (GRCm39)	V144G	probably damaging	Het
Kcp	A	G	6: 29,482,656 (GRCm39)	V1471A	probably benign	Het
Lrig1	G	T	6: 94,588,385 (GRCm39)	T588K	probably damaging	Het
Lyst	A	G	13: 13,818,121 (GRCm39)	I1264V	possibly damaging	Het
Slc4a11	A	T	2: 130,530,058 (GRCm39)	M240K	probably benign	Het
Vmn1r120	T	A	7: 20,786,935 (GRCm39)	I259F	probably benign	Het

Other mutations in Adam12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Adam12	APN	7	133,521,339 (GRCm39)	missense	probably benign	0.00
IGL01482:Adam12	APN	7	133,569,577 (GRCm39)	missense	probably damaging	1.00
IGL01922:Adam12	APN	7	133,539,201 (GRCm39)	nonsense	probably null
IGL02397:Adam12	APN	7	133,511,548 (GRCm39)	splice site	probably benign
IGL03401:Adam12	APN	7	133,518,192 (GRCm39)	missense	probably damaging	1.00
R0122:Adam12	UTSW	7	133,614,077 (GRCm39)	missense	probably benign	0.45
R0200:Adam12	UTSW	7	133,576,145 (GRCm39)	splice site	probably null
R0463:Adam12	UTSW	7	133,576,145 (GRCm39)	splice site	probably null
R0927:Adam12	UTSW	7	133,599,959 (GRCm39)	missense	probably damaging	1.00
R1258:Adam12	UTSW	7	133,539,176 (GRCm39)	missense	probably damaging	1.00
R1440:Adam12	UTSW	7	133,533,543 (GRCm39)	missense	probably benign	0.03
R1483:Adam12	UTSW	7	133,531,754 (GRCm39)	missense	probably benign	0.41
R1692:Adam12	UTSW	7	133,489,673 (GRCm39)	makesense	probably null
R1797:Adam12	UTSW	7	133,569,590 (GRCm39)	missense	probably benign	0.03
R2134:Adam12	UTSW	7	133,614,017 (GRCm39)	nonsense	probably null
R2230:Adam12	UTSW	7	133,521,347 (GRCm39)	missense	probably damaging	1.00
R2350:Adam12	UTSW	7	133,521,253 (GRCm39)	missense	probably damaging	1.00
R2944:Adam12	UTSW	7	133,577,236 (GRCm39)	missense	probably null	0.02
R3688:Adam12	UTSW	7	133,566,525 (GRCm39)	nonsense	probably null
R3747:Adam12	UTSW	7	133,774,594 (GRCm39)	missense	probably damaging	0.96
R3749:Adam12	UTSW	7	133,774,594 (GRCm39)	missense	probably damaging	0.96
R3750:Adam12	UTSW	7	133,774,594 (GRCm39)	missense	probably damaging	0.96
R4028:Adam12	UTSW	7	133,531,725 (GRCm39)	missense	probably damaging	1.00
R4130:Adam12	UTSW	7	133,514,653 (GRCm39)	missense	probably damaging	1.00
R4131:Adam12	UTSW	7	133,514,653 (GRCm39)	missense	probably damaging	1.00
R4346:Adam12	UTSW	7	133,583,264 (GRCm39)	missense	possibly damaging	0.82
R4701:Adam12	UTSW	7	133,518,191 (GRCm39)	missense	possibly damaging	0.64
R4887:Adam12	UTSW	7	133,774,550 (GRCm39)	missense	possibly damaging	0.74
R5355:Adam12	UTSW	7	133,489,671 (GRCm39)	makesense	probably null
R5468:Adam12	UTSW	7	133,577,202 (GRCm39)	missense	probably damaging	1.00
R5486:Adam12	UTSW	7	133,509,401 (GRCm39)	missense	possibly damaging	0.75
R5990:Adam12	UTSW	7	133,533,465 (GRCm39)	missense	probably damaging	1.00
R6504:Adam12	UTSW	7	133,531,713 (GRCm39)	missense	probably damaging	1.00
R6783:Adam12	UTSW	7	133,576,126 (GRCm39)	missense	probably damaging	1.00
R7117:Adam12	UTSW	7	133,518,191 (GRCm39)	missense	probably benign	0.00
R7263:Adam12	UTSW	7	133,521,240 (GRCm39)	missense	possibly damaging	0.68
R7749:Adam12	UTSW	7	133,826,542 (GRCm39)	missense	unknown
R7820:Adam12	UTSW	7	133,599,917 (GRCm39)	missense	probably benign	0.00
R7880:Adam12	UTSW	7	133,511,691 (GRCm39)	missense	possibly damaging	0.94
R7891:Adam12	UTSW	7	133,599,961 (GRCm39)	missense	probably benign	0.00
R8114:Adam12	UTSW	7	133,569,617 (GRCm39)	missense	probably damaging	1.00
R8160:Adam12	UTSW	7	133,569,770 (GRCm39)	splice site	probably null
R8683:Adam12	UTSW	7	133,491,929 (GRCm39)	missense	possibly damaging	0.49
R9236:Adam12	UTSW	7	133,614,022 (GRCm39)	missense	probably benign	0.03
R9277:Adam12	UTSW	7	133,521,561 (GRCm39)	missense	probably benign	0.00
R9480:Adam12	UTSW	7	133,736,470 (GRCm39)	missense	probably damaging	0.98
R9515:Adam12	UTSW	7	133,509,373 (GRCm39)	missense	probably benign	0.03
R9599:Adam12	UTSW	7	133,566,454 (GRCm39)	missense	probably damaging	0.99
X0057:Adam12	UTSW	7	133,614,044 (GRCm39)	nonsense	probably null

Posted On

2012-04-20