Mutagenetix > Incidental Mutation

Incidental Mutation 'R4701:Adam12'

356036

Institutional Source

Beutler Lab

Gene Symbol

Adam12

Ensembl Gene

ENSMUSG00000054555

Gene Name

ADAM metallopeptidase domain 12

Synonyms

Mltna, ADAM12

MMRRC Submission

041949-MU

Accession Numbers

Essential gene?

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

Stock #

R4701 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

133484928-133826826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133518191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 650 (I650F)

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: I650F

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: I650F

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: I328F

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114874
Gene: ENSMUSG00000054555
AA Change: I328F

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

0.1402

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,301,986 (GRCm39)	I196V	probably benign	Het
Aass	T	A	6: 23,075,855 (GRCm39)	K761*	probably null	Het
Abca13	A	G	11: 9,242,306 (GRCm39)	T1390A	possibly damaging	Het
Abhd16a	T	C	17: 35,315,582 (GRCm39)		probably null	Het
Acad11	C	T	9: 103,972,764 (GRCm39)	Q486*	probably null	Het
Actl9	T	C	17: 33,652,909 (GRCm39)	L323P	probably benign	Het
Adgre4	A	T	17: 56,091,971 (GRCm39)	D77V	probably damaging	Het
Ankrd26	A	G	6: 118,483,446 (GRCm39)	F1586S	possibly damaging	Het
Anpep	T	C	7: 79,489,213 (GRCm39)	T320A	probably benign	Het
Arl15	T	A	13: 114,104,261 (GRCm39)	C133S	probably benign	Het
Ascc3	A	G	10: 50,596,760 (GRCm39)	N1230S	possibly damaging	Het
Atf4	T	A	15: 80,141,618 (GRCm39)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,490,137 (GRCm39)	S1044T	probably benign	Het
Atp8b4	A	G	2: 126,256,213 (GRCm39)	F249L	probably damaging	Het
AU021092	G	T	16: 5,030,057 (GRCm39)	N319K	probably benign	Het
Bbs4	A	G	9: 59,230,802 (GRCm39)	V440A	probably benign	Het
Bpifb4	G	T	2: 153,792,305 (GRCm39)	G450C	probably damaging	Het
Cadm1	G	A	9: 47,730,120 (GRCm39)		probably benign	Het
Ccser2	G	A	14: 36,660,654 (GRCm39)	L500F	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Cdkl4	A	T	17: 80,851,081 (GRCm39)	V207E	probably damaging	Het
Cfap251	A	G	5: 123,460,676 (GRCm39)	K1213E	probably benign	Het
Cfap65	T	C	1: 74,958,067 (GRCm39)	D947G	probably damaging	Het
Cntn6	T	C	6: 104,781,321 (GRCm39)	V397A	probably benign	Het
Cpox	T	A	16: 58,498,332 (GRCm39)	Y388*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dda1	T	A	8: 71,926,454 (GRCm39)	Y58N	probably damaging	Het
Dennd4a	C	T	9: 64,804,639 (GRCm39)	T1326I	possibly damaging	Het
Eps8l2	A	T	7: 140,937,173 (GRCm39)	I338F	probably damaging	Het
Fbxo42	A	G	4: 140,927,120 (GRCm39)	T467A	probably benign	Het
Flt4	T	C	11: 49,517,635 (GRCm39)	F319S	possibly damaging	Het
Fmn1	A	T	2: 113,414,416 (GRCm39)	Y895F	possibly damaging	Het
Gm6887	C	A	7: 42,114,517 (GRCm39)		noncoding transcript	Het
Grid2	A	G	6: 64,642,899 (GRCm39)	D887G	probably benign	Het
Grm6	C	T	11: 50,753,837 (GRCm39)	P714S	probably damaging	Het
Gsto2	A	G	19: 47,873,095 (GRCm39)	I157V	probably benign	Het
Il15ra	A	G	2: 11,723,156 (GRCm39)		probably null	Het
Impg1	A	G	9: 80,221,682 (GRCm39)	F713L	probably benign	Het
Jag1	T	A	2: 136,936,376 (GRCm39)	T373S	probably benign	Het
Kcnh3	T	A	15: 99,139,826 (GRCm39)	L904Q	probably benign	Het
Kctd19	C	A	8: 106,117,061 (GRCm39)	G356V	possibly damaging	Het
Kdm5b	T	A	1: 134,533,750 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 93,006,557 (GRCm39)	I37V	probably damaging	Het
Lama5	G	A	2: 179,833,489 (GRCm39)	R1508C	probably damaging	Het
Lamb1	T	A	12: 31,316,847 (GRCm39)	C65*	probably null	Het
Lingo1	A	G	9: 56,527,542 (GRCm39)	F349S	probably damaging	Het
Loxl4	G	A	19: 42,596,052 (GRCm39)	H147Y	probably benign	Het
Lrrn4cl	T	A	19: 8,829,419 (GRCm39)	N132K	probably damaging	Het
Med17	A	T	9: 15,181,656 (GRCm39)	H31Q	probably damaging	Het
Med23	A	T	10: 24,769,546 (GRCm39)	L476F	probably damaging	Het
Mgst1	A	T	6: 138,127,836 (GRCm39)	D66V	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Muc4	A	T	16: 32,576,220 (GRCm39)		probably benign	Het
Myo18a	C	T	11: 77,708,491 (GRCm39)	T30M	probably damaging	Het
Ncapg2	G	T	12: 116,404,238 (GRCm39)	R903L	probably benign	Het
Nme1	A	G	11: 93,856,734 (GRCm39)	I9T	probably damaging	Het
Nmt2	T	A	2: 3,323,678 (GRCm39)	I357N	probably benign	Het
Nphp4	T	C	4: 152,581,116 (GRCm39)	F100S	probably damaging	Het
Oca2	C	A	7: 55,904,750 (GRCm39)	T72K	probably benign	Het
Or52e4	A	T	7: 104,706,086 (GRCm39)	D211V	probably damaging	Het
Or52e7	A	T	7: 104,684,798 (GRCm39)	D131V	probably damaging	Het
Or52z15	G	A	7: 103,332,269 (GRCm39)	V105M	probably damaging	Het
Or7h8	T	C	9: 20,123,921 (GRCm39)	I92T	probably damaging	Het
Or9s15	C	A	1: 92,525,160 (GRCm39)	D306E	probably benign	Het
Plce1	A	T	19: 38,713,451 (GRCm39)	T1240S	probably benign	Het
Plch1	A	T	3: 63,606,917 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,493,623 (GRCm39)	D331G	probably damaging	Het
Ppp1r3a	T	C	6: 14,718,992 (GRCm39)	T641A	probably benign	Het
Rab32	A	G	10: 10,426,598 (GRCm39)	L116P	probably benign	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Rorc	G	C	3: 94,299,017 (GRCm39)	E391Q	probably null	Het
Saa4	A	T	7: 46,381,051 (GRCm39)	F24I	possibly damaging	Het
Sall1	T	A	8: 89,757,788 (GRCm39)	K772M	probably damaging	Het
Sdk1	T	G	5: 142,170,986 (GRCm39)	L1950V	probably damaging	Het
Sil1	T	C	18: 35,399,949 (GRCm39)	E352G	probably benign	Het
Slc26a3	C	T	12: 31,497,773 (GRCm39)	P59L	probably damaging	Het
Smco2	T	C	6: 146,763,440 (GRCm39)		probably benign	Het
Sppl3	A	G	5: 115,241,372 (GRCm39)		probably null	Het
St6gal2	T	A	17: 55,803,345 (GRCm39)	V360D	probably damaging	Het
Stard9	G	A	2: 120,536,194 (GRCm39)	R345Q	possibly damaging	Het
Susd4	T	A	1: 182,719,626 (GRCm39)	Y414N	probably damaging	Het
Tenm4	T	C	7: 96,544,556 (GRCm39)	Y2191H	probably damaging	Het
Tln2	A	G	9: 67,253,809 (GRCm39)	V754A	probably benign	Het
Tmem132c	T	A	5: 127,641,560 (GRCm39)		probably benign	Het
Tnn	A	T	1: 159,975,338 (GRCm39)	S30T	possibly damaging	Het
Trpd52l3	G	T	19: 29,981,895 (GRCm39)	V217F	probably damaging	Het
Trpm1	G	T	7: 63,893,248 (GRCm39)	L1033F	probably damaging	Het
Tulp2	A	G	7: 45,167,348 (GRCm39)	E182G	probably damaging	Het
Ubr4	A	G	4: 139,198,647 (GRCm39)	K4490R	possibly damaging	Het
Usp17la	A	T	7: 104,509,856 (GRCm39)	R154*	probably null	Het
Vmn2r17	T	G	5: 109,575,849 (GRCm39)	M240R	probably damaging	Het
Vmn2r22	T	A	6: 123,627,428 (GRCm39)	N56I	probably benign	Het
Zdhhc21	A	T	4: 82,738,571 (GRCm39)	I206N	possibly damaging	Het
Zfp148	T	A	16: 33,277,278 (GRCm39)	D122E	probably benign	Het
Zfp804a	A	T	2: 82,086,926 (GRCm39)	S252C	probably damaging	Het
Zgrf1	C	T	3: 127,392,353 (GRCm39)	T1291I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CATTGAGAAGGCACTCACCGAC -3'
(R):5'- ACTTGTTGCAGCCTCCAGTC -3'

Sequencing Primer
(F):5'- GTTTTAAGAAACCCTGGCTAGCAG -3'
(R):5'- TAAGACAGGCTCTCTCACTGG -3'

Posted On

2015-10-21