Mutagenetix > Incidental Mutations

Incidental Mutation 'R8160:Adam12'

643843

Institutional Source

Beutler Lab

Gene Symbol

Adam12

Ensembl Gene

ENSMUSG00000054555

Gene Name

a disintegrin and metallopeptidase domain 12 (meltrin alpha)

Synonyms

Mltna, ADAM12

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R8160 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133883199-134232146 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 133968041 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065213 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000067680

SMART Domains

Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (32/32)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415F15Rik	T	C	11: 11,487,734	S246P	unknown	Het
Aldh8a1	A	G	10: 21,395,791	D472G	possibly damaging	Het
Appl1	T	C	14: 26,928,635	I527V	probably benign	Het
Arhgef4	C	A	1: 34,723,574	T637K	unknown	Het
Atp7b	G	A	8: 21,997,559	A1273V	probably damaging	Het
Ccl20	T	A	1: 83,117,822	S35T		Het
Cdh24	C	A	14: 54,638,489	V208F	probably damaging	Het
Dchs2	A	T	3: 83,270,805	Q1055L	probably benign	Het
Dock8	G	A	19: 25,147,347	R1009Q	probably damaging	Het
Ext2	A	T	2: 93,813,762	V58E	probably benign	Het
Fam208a	T	A	14: 27,449,956	N420K	probably damaging	Het
Fam209	A	T	2: 172,472,725	I45F	possibly damaging	Het
Hfm1	T	C	5: 106,896,033	Y579C	probably null	Het
Hipk4	C	T	7: 27,523,761	A82V	possibly damaging	Het
Il17rc	A	G	6: 113,476,528	Y223C	possibly damaging	Het
Itsn1	G	A	16: 91,818,558	R397H	unknown	Het
Kdm5b	T	A	1: 134,613,919	M744K	probably damaging	Het
Mettl16	T	C	11: 74,817,679	V568A	probably damaging	Het
Mink1	C	T	11: 70,606,081	Q422*	probably null	Het
Mvb12b	G	T	2: 33,840,222	D81E	probably benign	Het
Nostrin	A	T	2: 69,179,466	I313F	probably damaging	Het
Nsun6	A	G	2: 15,009,408		probably null	Het
Nt5dc1	T	A	10: 34,324,396	E209V	possibly damaging	Het
Oasl2	T	C	5: 114,901,286		probably benign	Het
Olfr303	C	T	7: 86,395,265	V78M	possibly damaging	Het
Olfr517	C	T	7: 108,868,788	R122Q	possibly damaging	Het
Olfr857	T	A	9: 19,712,789		probably benign	Het
Ppm1h	A	T	10: 122,802,436	T204S	probably benign	Het
Rad51b	T	A	12: 79,303,341	L70I	probably benign	Het
Smok3c	A	G	5: 138,065,024	T258A	possibly damaging	Het
Snai2	T	C	16: 14,706,804	V58A	possibly damaging	Het
St6galnac1	G	A	11: 116,775,490		probably benign	Het

Other mutations in Adam12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Adam12	APN	7	133909881	missense	possibly damaging	0.51
IGL01403:Adam12	APN	7	133919610	missense	probably benign	0.00
IGL01482:Adam12	APN	7	133967848	missense	probably damaging	1.00
IGL01922:Adam12	APN	7	133937472	nonsense	probably null
IGL02397:Adam12	APN	7	133909819	splice site	probably benign
IGL03401:Adam12	APN	7	133916463	missense	probably damaging	1.00
R0122:Adam12	UTSW	7	134012348	missense	probably benign	0.45
R0200:Adam12	UTSW	7	133974416	splice site	probably null
R0463:Adam12	UTSW	7	133974416	splice site	probably null
R0927:Adam12	UTSW	7	133998230	missense	probably damaging	1.00
R1258:Adam12	UTSW	7	133937447	missense	probably damaging	1.00
R1440:Adam12	UTSW	7	133931814	missense	probably benign	0.03
R1483:Adam12	UTSW	7	133930025	missense	probably benign	0.41
R1692:Adam12	UTSW	7	133887944	makesense	probably null
R1797:Adam12	UTSW	7	133967861	missense	probably benign	0.03
R2134:Adam12	UTSW	7	134012288	nonsense	probably null
R2230:Adam12	UTSW	7	133919618	missense	probably damaging	1.00
R2350:Adam12	UTSW	7	133919524	missense	probably damaging	1.00
R2944:Adam12	UTSW	7	133975507	missense	probably null	0.02
R3688:Adam12	UTSW	7	133964796	nonsense	probably null
R3747:Adam12	UTSW	7	134172865	missense	probably damaging	0.96
R3749:Adam12	UTSW	7	134172865	missense	probably damaging	0.96
R3750:Adam12	UTSW	7	134172865	missense	probably damaging	0.96
R4028:Adam12	UTSW	7	133929996	missense	probably damaging	1.00
R4130:Adam12	UTSW	7	133912924	missense	probably damaging	1.00
R4131:Adam12	UTSW	7	133912924	missense	probably damaging	1.00
R4346:Adam12	UTSW	7	133981535	missense	possibly damaging	0.82
R4701:Adam12	UTSW	7	133916462	missense	possibly damaging	0.64
R4887:Adam12	UTSW	7	134172821	missense	possibly damaging	0.74
R5355:Adam12	UTSW	7	133887942	makesense	probably null
R5468:Adam12	UTSW	7	133975473	missense	probably damaging	1.00
R5486:Adam12	UTSW	7	133907672	missense	possibly damaging	0.75
R5990:Adam12	UTSW	7	133931736	missense	probably damaging	1.00
R6504:Adam12	UTSW	7	133929984	missense	probably damaging	1.00
R6783:Adam12	UTSW	7	133974397	missense	probably damaging	1.00
R7117:Adam12	UTSW	7	133916462	missense	probably benign	0.00
R7263:Adam12	UTSW	7	133919511	missense	possibly damaging	0.68
R7749:Adam12	UTSW	7	134224813	missense	unknown
R7820:Adam12	UTSW	7	133998188	missense	probably benign	0.00
R7880:Adam12	UTSW	7	133909962	missense	possibly damaging	0.94
R7891:Adam12	UTSW	7	133998232	missense	probably benign	0.00
R8114:Adam12	UTSW	7	133967888	missense	probably damaging	1.00
R8683:Adam12	UTSW	7	133890200	missense	possibly damaging	0.49
X0057:Adam12	UTSW	7	134012315	nonsense	probably null

Predicted Primers

Posted On

2020-08-28