Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Adam12'

481944

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

044170-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.473) question?

Stock #

R5990 (G1)

Quality Score

173.009

Status

Validated

Chromosome

Chromosomal Location

133883199-134232146 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 133931736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 471 (C471F)

Ref Sequence

ENSEMBL: ENSMUSP00000065213 (fasta)

Gene Model

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

AlphaFold

Q61824

Predicted Effect

probably damaging
Transcript: ENSMUST00000067680
AA Change: C471F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: C471F

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 damaging
Transcript: ENSMUST00000138363
AA Change: C149F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114874
Gene: ENSMUSG00000054555
AA Change: C149F

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

Meta Mutation Damage Score

0.9559

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405	L319P	probably damaging	Het
Arfgef1	A	G	1: 10,172,921	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895		probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182	S286P	probably benign	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Cmtr1	T	C	17: 29,702,161	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707	T12A	probably benign	Het
Kndc1	T	A	7: 139,927,420	V1173E	probably damaging	Het
Kprp	T	C	3: 92,824,774	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607		probably benign	Het
Lrrc37a	A	G	11: 103,500,958	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161	C1615R	unknown	Het
Nans	A	T	4: 46,489,441	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491	S207L	possibly damaging	Het
Nrd1	T	G	4: 109,019,071	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016		probably benign	Het
Nufip1	C	T	14: 76,114,188	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,327,114	H114Y	possibly damaging	Het
Olfr1295	T	A	2: 111,564,674	I257F	probably damaging	Het
Olfr160	G	T	9: 37,712,110	H56Q	probably damaging	Het
Opa1	T	A	16: 29,587,018	W134R	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Patl2	T	C	2: 122,124,484	D361G	probably damaging	Het
Pcx	A	G	19: 4,621,266	D1172G	probably damaging	Het
Phax	A	G	18: 56,575,603	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320		probably null	Het
Ppp1r9a	C	A	6: 5,134,660	H928N	probably benign	Het
Prdm2	T	C	4: 143,170,113	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,866,397	I177T	probably damaging	Het
Samd12	T	A	15: 53,719,623	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810	E55G	probably damaging	Het
Wdr35	A	G	12: 9,016,511	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,567,868	V381M	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263	A104T	probably damaging	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
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
R8160:Adam12	UTSW	7	133968041	splice site	probably null
R8683:Adam12	UTSW	7	133890200	missense	possibly damaging	0.49
R9236:Adam12	UTSW	7	134012293	missense	probably benign	0.03
R9277:Adam12	UTSW	7	133919832	missense	probably benign	0.00
R9480:Adam12	UTSW	7	134134741	missense	probably damaging	0.98
R9515:Adam12	UTSW	7	133907644	missense	probably benign	0.03
R9599:Adam12	UTSW	7	133964725	missense	probably damaging	0.99
X0057:Adam12	UTSW	7	134012315	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGCCCACAGACAATTTATCACAG -3'
(R):5'- TTCTGGGGCAGGTTTCCATC -3'

Sequencing Primer
(F):5'- ACAGAGAATTAGCAATTAAAATGTGC -3'
(R):5'- GCAGGTTTCCATCTTAGGGTC -3'

Posted On

2017-06-26