Mutagenetix > Incidental Mutation

Incidental Mutation 'R5468:Adam12'

433343

Institutional Source

Beutler Lab

Gene Symbol

Adam12

Ensembl Gene

ENSMUSG00000054555

Gene Name

ADAM metallopeptidase domain 12

Synonyms

Mltna, ADAM12

MMRRC Submission

043029-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

R5468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133484928-133826826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133577202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 221 (D221G)

Ref Sequence

ENSEMBL: ENSMUSP00000065213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067680] [ENSMUST00000134504]

AlphaFold

Q61824

Predicted Effect

probably damaging
Transcript: ENSMUST00000067680
AA Change: D221G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: D221G

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: ENSMUST00000134504

SMART Domains

Protein: ENSMUSP00000123161
Gene: ENSMUSG00000054555

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	6	135	6.1e-36	PFAM

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,009,659 (GRCm39)	R181Q	probably damaging	Het
Abca13	T	A	11: 9,244,062 (GRCm39)	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,036,443 (GRCm39)	I180N	probably benign	Het
Adamts4	A	G	1: 171,080,178 (GRCm39)	T244A	probably benign	Het
Adrb2	A	T	18: 62,312,696 (GRCm39)	I43N	probably damaging	Het
Anxa1	A	T	19: 20,355,847 (GRCm39)	Y207N	probably damaging	Het
Apba2	T	C	7: 64,395,510 (GRCm39)	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,788,667 (GRCm39)	I593K	probably damaging	Het
Arsj	T	C	3: 126,232,037 (GRCm39)	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,549,986 (GRCm39)		probably null	Het
C2cd2	C	T	16: 97,669,791 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,384,568 (GRCm39)	S2571T	probably damaging	Het
Cep162	A	C	9: 87,109,290 (GRCm39)	L438V	probably benign	Het
Cfap74	A	T	4: 155,510,498 (GRCm39)	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,633 (GRCm39)	I548T	probably damaging	Het
Cracd	A	T	5: 76,988,610 (GRCm39)		probably benign	Het
Dglucy	A	G	12: 100,816,594 (GRCm39)	N382S	probably benign	Het
Dnah10	C	A	5: 124,907,557 (GRCm39)	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,282,937 (GRCm39)	M281L	probably benign	Het
Fam186b	A	G	15: 99,176,751 (GRCm39)	I713T	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fry	A	T	5: 150,323,053 (GRCm39)	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,493,247 (GRCm39)	I231V	probably benign	Het
Gbf1	A	G	19: 46,272,735 (GRCm39)	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,858,130 (GRCm39)	P5S	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Impg1	T	C	9: 80,347,318 (GRCm39)	I9V	probably benign	Het
Lama4	A	G	10: 38,948,678 (GRCm39)		probably null	Het
Lamc1	A	G	1: 153,109,310 (GRCm39)	S1161P	probably damaging	Het
Lipm	T	A	19: 34,086,954 (GRCm39)		probably null	Het
Lrrc7	G	T	3: 158,024,073 (GRCm39)	N107K	probably damaging	Het
Lypd8	T	C	11: 58,277,586 (GRCm39)	S123P	probably damaging	Het
Man2a2	T	C	7: 80,002,729 (GRCm39)	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,964,519 (GRCm39)	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,299,778 (GRCm39)	C71Y	probably benign	Het
Mtus1	A	G	8: 41,537,615 (GRCm39)	S34P	probably benign	Het
Myo3b	A	G	2: 70,064,785 (GRCm39)	N406S	probably benign	Het
Nbr1	A	T	11: 101,463,290 (GRCm39)	M586L	probably benign	Het
Nfatc1	C	T	18: 80,693,070 (GRCm39)	R677H	probably benign	Het
Nlrc3	A	C	16: 3,781,899 (GRCm39)	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,064,425 (GRCm39)	F968I	probably benign	Het
Onecut1	A	T	9: 74,770,614 (GRCm39)	T346S	probably damaging	Het
Or1j12	A	T	2: 36,343,455 (GRCm39)	N286I	probably damaging	Het
Or8b35	G	A	9: 37,904,307 (GRCm39)	C168Y	probably damaging	Het
Or8g32	A	G	9: 39,305,257 (GRCm39)	N57D	probably benign	Het
Pclo	A	T	5: 14,730,966 (GRCm39)	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,809,072 (GRCm39)	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,355,411 (GRCm39)	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,121,716 (GRCm39)	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,361,952 (GRCm39)	F69L	possibly damaging	Het
Prss27	C	A	17: 24,257,287 (GRCm39)	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,540,020 (GRCm39)	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,339,191 (GRCm39)	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,678,584 (GRCm39)	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,269,471 (GRCm39)	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 4,985,004 (GRCm39)		probably null	Het
Sepsecs	A	T	5: 52,801,356 (GRCm39)	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,936,226 (GRCm39)	K223E	probably benign	Het
Sh3tc2	G	A	18: 62,106,502 (GRCm39)		probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Tmprss7	A	G	16: 45,476,811 (GRCm39)	F817S	probably damaging	Het
Tril	T	C	6: 53,796,632 (GRCm39)	N197D	probably damaging	Het
Tspan18	T	C	2: 93,040,207 (GRCm39)	T183A	probably benign	Het
Uroc1	A	T	6: 90,315,586 (GRCm39)	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,160 (GRCm39)	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,983,950 (GRCm39)	Y592H	probably benign	Het
Zfp553	T	C	7: 126,836,202 (GRCm39)	S586P	probably benign	Het
Zfp619	C	T	7: 39,185,152 (GRCm39)	A394V	unknown	Het
Zfp985	A	G	4: 147,667,702 (GRCm39)	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,427,536 (GRCm39)	D309E	probably benign	Het
Zmynd15	T	C	11: 70,352,646 (GRCm39)	L73P	probably damaging	Het

Other mutations in Adam12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Adam12	APN	7	133,511,610 (GRCm39)	missense	possibly damaging	0.51
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
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

Predicted Primers

PCR Primer
(F):5'- AAAGAAACCCTGTGTTATTGGTAGG -3'
(R):5'- AGAGTCTCCCCTCCAAATATCG -3'

Sequencing Primer
(F):5'- AAACCCTGTGTTATTGGTAGGTTCAC -3'
(R):5'- CCCCTCCAAATATCGTTATTGTG -3'

Posted On

2016-10-06