Mutagenetix > Incidental Mutation

Incidental Mutation 'R6970:Adam17'

542206

Institutional Source

Beutler Lab

Gene Symbol

Adam17

Ensembl Gene

ENSMUSG00000052593

Gene Name

a disintegrin and metallopeptidase domain 17

Synonyms

CD156b, Tace

MMRRC Submission

Accession Numbers

Genbank: NM_009615; MGI: 1096335

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21323509-21373632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21345668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 285 (S285P)

Ref Sequence

ENSEMBL: ENSMUSP00000099087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064536] [ENSMUST00000101551] [ENSMUST00000127974] [ENSMUST00000142092] [ENSMUST00000145118] [ENSMUST00000232107] [ENSMUST00000232526]

AlphaFold

Q9Z0F8

Predicted Effect

probably benign
Transcript: ENSMUST00000064536
AA Change: S266P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593
AA Change: S266P

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: ENSMUST00000101551
AA Change: S285P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593
AA Change: S285P

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

probably benign
Transcript: ENSMUST00000142092

SMART Domains

Protein: ENSMUSP00000136255
Gene: ENSMUSG00000052593

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145118
AA Change: S266P

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136407
Gene: ENSMUSG00000052593
AA Change: S266P

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

probably benign
Transcript: ENSMUST00000232107

Predicted Effect

probably benign
Transcript: ENSMUST00000232526

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315	Y285H	possibly damaging	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601		probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750	E14K	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
R4062:Adam17	UTSW	12	21325457	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
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'- CCAAAGTCTGACACATGATCAGAAG -3'
(R):5'- CCCCTCAGTGGTAAAGATTGG -3'

Sequencing Primer
(F):5'- TGTAATGAGATCTGACGCCC -3'
(R):5'- GGTAAAGATTGGTTTCTCAATGCCAG -3'

Posted On

2018-11-28