Mutagenetix > Incidental Mutation

Incidental Mutation 'R4062:Adam17'

315923

Institutional Source

Beutler Lab

Gene Symbol

Adam17

Ensembl Gene

ENSMUSG00000052593

Gene Name

a disintegrin and metallopeptidase domain 17

Synonyms

CD156b, Tace

MMRRC Submission

040971-MU

Accession Numbers

Genbank: NM_009615; MGI: 1096335

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R4062 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21323509-21373632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21325457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 787 (D787G)

Ref Sequence

ENSEMBL: ENSMUSP00000099087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064536] [ENSMUST00000076813] [ENSMUST00000101551] [ENSMUST00000127974] [ENSMUST00000145118] [ENSMUST00000221693] [ENSMUST00000223345] [ENSMUST00000232107] [ENSMUST00000232526]

AlphaFold

Q9Z0F8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064536
AA Change: D768G

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

SMART Domains

Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593
AA Change: D768G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	28	167	1.1e-11	PFAM
Pfam:Reprolysin_5	221	451	6.7e-37	PFAM
Pfam:Reprolysin_4	221	469	3.2e-24	PFAM
Pfam:Reprolysin_2	244	464	8.8e-29	PFAM
Pfam:Reprolysin_3	248	416	1.2e-12	PFAM
Pfam:Reprolysin	383	474	3.1e-9	PFAM
DISIN	484	561	6.27e-26	SMART
PDB:2M2F\|A	581	642	4e-32	PDB
transmembrane domain	672	694	N/A	INTRINSIC
low complexity region	739	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076813

SMART Domains

Protein: ENSMUSP00000076090
Gene: ENSMUSG00000062054

Domain	Start	End	E-Value	Type
Pfam:Lipase_GDSL	18	213	1.3e-34	PFAM
Pfam:Lipase_GDSL_2	19	209	2.8e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000101551
AA Change: D787G

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

SMART Domains

Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593
AA Change: D787G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	167	9.7e-15	PFAM
Pfam:Reprolysin_5	221	470	5e-34	PFAM
Pfam:Reprolysin_4	221	488	6.1e-20	PFAM
Pfam:Reprolysin_2	264	483	2.6e-34	PFAM
Pfam:Reprolysin_3	267	435	2.8e-14	PFAM
Pfam:Reprolysin	330	493	5.3e-9	PFAM
DISIN	503	580	6.27e-26	SMART
Pfam:ADAM17_MPD	600	661	1e-23	PFAM
transmembrane domain	691	713	N/A	INTRINSIC
low complexity region	758	774	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127974

SMART Domains

Protein: ENSMUSP00000136677
Gene: ENSMUSG00000052593

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	25	167	9.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141799

Predicted Effect

probably benign
Transcript: ENSMUST00000145118

SMART Domains

Protein: ENSMUSP00000136407
Gene: ENSMUSG00000052593

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	28	167	7.5e-12	PFAM
Pfam:Reprolysin_5	221	451	4.2e-37	PFAM
Pfam:Reprolysin_4	221	469	2e-24	PFAM
Pfam:Reprolysin_2	244	464	5.6e-29	PFAM
Pfam:Reprolysin_3	248	416	7.8e-13	PFAM
Pfam:Reprolysin	381	474	2.2e-9	PFAM
DISIN	484	561	6.27e-26	SMART
PDB:2M2F\|A	581	638	5e-29	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155115

Predicted Effect

probably benign
Transcript: ENSMUST00000221693

Predicted Effect

probably benign
Transcript: ENSMUST00000222344

Predicted Effect

probably benign
Transcript: ENSMUST00000223345

Predicted Effect

probably benign
Transcript: ENSMUST00000232107

Predicted Effect

probably benign
Transcript: ENSMUST00000232526

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

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 enzyme that is involved in the proteolytic release of membrane-bound proteins in a process called ectodomain shedding. Mice lacking the encoded protein die in utero or fail to survive beyond one week of age. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Most mice homozygous for targeted mutations that inactivate the gene die perinatally with stunted vibrissae and open eyelids. Survivors display various degrees of eye degeneration, perturbed hair coats, curly vibrissae, and irregular pigmentation patterns. Histological analysis of fetuses reveal defects in epithelial cell maturation and organization in multiple organs. [provided by MGI curators]

Allele List at MGI

All alleles(13) : Targeted, knock-out(2) Targeted, other(3) Gene trapped(8)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,158,769	L140Q	probably damaging	Het
Adamtsl4	T	C	3: 95,677,554	K935E	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Bnip3l	T	C	14: 67,008,738	N16S	possibly damaging	Het
Cd320	T	A	17: 33,847,517	N90K	probably benign	Het
Cdc40	A	T	10: 40,849,852		probably null	Het
Clec4b1	C	A	6: 123,068,484	H55N	probably benign	Het
Cyp4a10	A	T	4: 115,519,701	R87S	probably benign	Het
Duoxa2	G	T	2: 122,300,577	S73I	probably damaging	Het
Dytn	A	G	1: 63,647,447	C355R	probably benign	Het
Emilin3	T	C	2: 160,907,796	T631A	probably benign	Het
Ep400	A	T	5: 110,741,981	M472K	probably benign	Het
Erap1	G	T	13: 74,663,536	M338I	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fanca	T	C	8: 123,275,172	T1061A	probably benign	Het
Fat1	A	T	8: 45,025,481	E2521D	probably benign	Het
Gcdh	T	C	8: 84,892,453	I152V	probably damaging	Het
Gls	T	C	1: 52,196,748	K403E	probably damaging	Het
Gorasp2	T	C	2: 70,679,513	C173R	probably damaging	Het
Greb1l	G	A	18: 10,522,150	V749I	probably damaging	Het
Hnrnpll	T	C	17: 80,032,772	H526R	probably benign	Het
Il18r1	G	A	1: 40,474,936	V101I	probably benign	Het
Incenp	A	T	19: 9,883,778	M480K	unknown	Het
Isl1	T	A	13: 116,303,090	I241F	probably benign	Het
Kdm6a	A	G	X: 18,250,875	T266A	probably benign	Het
Lcp1	T	C	14: 75,215,180	V442A	probably damaging	Het
Mast3	A	G	8: 70,781,194	V969A	probably damaging	Het
Mbnl1	T	C	3: 60,603,755	L136P	probably damaging	Het
Mrps24	G	A	11: 5,704,676	R93*	probably null	Het
Nkd2	C	T	13: 73,822,690	G258R	probably null	Het
Obscn	T	C	11: 59,082,710	T1932A	probably damaging	Het
Otop2	G	A	11: 115,329,375	G347D	probably damaging	Het
Plagl1	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	10: 13,128,771		probably benign	Het
Ptpn18	A	T	1: 34,472,930	H45L	possibly damaging	Het
Rab3il1	T	C	19: 10,026,624	S36P	probably benign	Het
Rims1	G	T	1: 22,533,583	N512K	probably benign	Het
Rinl	T	C	7: 28,790,715	Y60H	probably benign	Het
Scamp2	G	T	9: 57,577,262		probably null	Het
Sept9	T	C	11: 117,352,265	S324P	probably damaging	Het
Sh3pxd2b	G	T	11: 32,422,263	A477S	probably benign	Het
Soat2	A	G	15: 102,161,091	T396A	possibly damaging	Het
Tenm2	C	T	11: 36,008,655	G2559S	probably damaging	Het
Tpcn1	G	A	5: 120,557,897	A97V	possibly damaging	Het
Trdn	A	G	10: 33,257,087	E311G	probably benign	Het
Usp13	T	C	3: 32,881,423	Y333H	probably damaging	Het
Usp18	A	G	6: 121,261,367	T158A	probably benign	Het
Vmn1r118	G	T	7: 20,912,008	Q114K	probably damaging	Het
Wwp1	A	T	4: 19,638,644	N566K	possibly damaging	Het
Zfp292	A	G	4: 34,810,863	V727A	probably damaging	Het

Other mutations in Adam17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Adam17	APN	12	21328109	missense	probably damaging	1.00
IGL01340:Adam17	APN	12	21330057	nonsense	probably null
IGL01973:Adam17	APN	12	21349943	missense	probably damaging	1.00
IGL02223:Adam17	APN	12	21361705	missense	possibly damaging	0.92
IGL03153:Adam17	APN	12	21345697	missense	probably damaging	1.00
Steinway	UTSW	12	21353948	missense	probably damaging	1.00
wavedx	UTSW	12	21340750	missense	probably damaging	1.00
R0014:Adam17	UTSW	12	21336644	missense	probably benign	0.36
R0080:Adam17	UTSW	12	21329048	splice site	probably benign
R0082:Adam17	UTSW	12	21329048	splice site	probably benign
R0324:Adam17	UTSW	12	21349938	missense	probably benign	0.00
R0511:Adam17	UTSW	12	21340458	splice site	probably benign
R0745:Adam17	UTSW	12	21332221	splice site	probably benign
R1314:Adam17	UTSW	12	21329071	missense	probably damaging	1.00
R1547:Adam17	UTSW	12	21353957	missense	probably damaging	1.00
R1594:Adam17	UTSW	12	21340470	critical splice donor site	probably null
R1607:Adam17	UTSW	12	21334138	splice site	probably null
R1812:Adam17	UTSW	12	21361767	missense	probably damaging	0.97
R2020:Adam17	UTSW	12	21349875	missense	probably damaging	1.00
R3408:Adam17	UTSW	12	21329118	missense	probably damaging	1.00
R3735:Adam17	UTSW	12	21325412	missense	probably benign	0.05
R3886:Adam17	UTSW	12	21325587	missense	probably damaging	1.00
R3888:Adam17	UTSW	12	21325587	missense	probably damaging	1.00
R4415:Adam17	UTSW	12	21345701	missense	possibly damaging	0.90
R4563:Adam17	UTSW	12	21332088	missense	probably damaging	1.00
R4658:Adam17	UTSW	12	21332160	missense	probably damaging	1.00
R4763:Adam17	UTSW	12	21334015	missense	probably benign
R4793:Adam17	UTSW	12	21347395	missense	probably benign
R5101:Adam17	UTSW	12	21373405	missense	possibly damaging	0.85
R5120:Adam17	UTSW	12	21343019	intron	probably benign
R5514:Adam17	UTSW	12	21340519	missense	probably damaging	0.98
R5592:Adam17	UTSW	12	21334137	missense	probably damaging	1.00
R5874:Adam17	UTSW	12	21329086	missense	possibly damaging	0.76
R6110:Adam17	UTSW	12	21353948	missense	probably damaging	1.00
R6451:Adam17	UTSW	12	21342882	missense	probably benign	0.00
R6930:Adam17	UTSW	12	21353948	missense	probably damaging	1.00
R6970:Adam17	UTSW	12	21345668	missense	probably benign	0.06
R7213:Adam17	UTSW	12	21336678	nonsense	probably null
R7302:Adam17	UTSW	12	21355693	intron	probably benign
R7361:Adam17	UTSW	12	21325601	missense	probably damaging	0.98
R7667:Adam17	UTSW	12	21333952	critical splice donor site	probably null
R7799:Adam17	UTSW	12	21340492	missense	probably damaging	1.00
R8762:Adam17	UTSW	12	21351594	missense	probably benign	0.03
R8958:Adam17	UTSW	12	21349933	missense	possibly damaging	0.61
R9108:Adam17	UTSW	12	21330131	missense	probably benign
R9163:Adam17	UTSW	12	21351587	missense	probably benign	0.00
R9295:Adam17	UTSW	12	21349937	missense	probably benign	0.02
R9345:Adam17	UTSW	12	21328055	missense	probably damaging	1.00
R9444:Adam17	UTSW	12	21325535	missense	probably benign	0.28
R9522:Adam17	UTSW	12	21345692	missense	probably damaging	1.00
R9582:Adam17	UTSW	12	21336664	missense	probably benign	0.14
X0063:Adam17	UTSW	12	21332585	missense	probably benign	0.17
Z1176:Adam17	UTSW	12	21361737	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AAGGTTCCCCACTAGCACTC -3'
(R):5'- AGCCCAGGGTTACTGTACAG -3'

Sequencing Primer
(F):5'- ACTAGCACTCTGTCTCTTTGCTG -3'
(R):5'- CCAGGGTTACTGTACAGTGTAATGAC -3'

Posted On

2015-05-15