Mutagenetix > Incidental Mutation

Incidental Mutation 'R7361:Adam17'

571361

Institutional Source

Beutler Lab

Gene Symbol

Adam17

Ensembl Gene

ENSMUSG00000052593

Gene Name

a disintegrin and metallopeptidase domain 17

Synonyms

CD156b, Tace

MMRRC Submission

045447-MU

Accession Numbers

Genbank: NM_009615; MGI: 1096335

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R7361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21323509-21373632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21325601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 739 (D739G)

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

possibly damaging
Transcript: ENSMUST00000064536
AA Change: D720G

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593
AA Change: D720G

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: D739G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593
AA Change: D739G

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: 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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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 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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	C	T	6: 132,627,471	V4I	unknown	Het
Actn1	A	T	12: 80,193,715	D199E	probably benign	Het
Agmat	T	C	4: 141,746,852	S15P	probably benign	Het
Ahsa2	A	G	11: 23,491,099	S229P	probably damaging	Het
Arhgef3	A	G	14: 27,265,578	D36G	possibly damaging	Het
BC055324	A	T	1: 163,986,033	D207E	possibly damaging	Het
C6	C	A	15: 4,796,922	Y662*	probably null	Het
Ccs	T	C	19: 4,833,350	D140G	probably benign	Het
Cdc42bpb	A	G	12: 111,345,605	L65P	probably damaging	Het
Cdh24	A	T	14: 54,638,921	V149E	possibly damaging	Het
Cdk12	C	A	11: 98,210,468	S384*	probably null	Het
Cep350	G	A	1: 155,901,491	A1701V	probably damaging	Het
Ces1g	T	C	8: 93,333,679	Q104R	not run	Het
Chd5	A	G	4: 152,363,288	H537R	probably damaging	Het
Cln5	T	A	14: 103,075,903	V197D	probably damaging	Het
Coq7	A	G	7: 118,529,575	V79A	probably benign	Het
Cp	A	T	3: 19,964,306	N58I	probably benign	Het
Cplx2	A	T	13: 54,378,826	M16L	probably benign	Het
Crot	A	G	5: 8,977,534	L266S	probably damaging	Het
Ctbs	T	A	3: 146,458,754	Y221N	probably damaging	Het
Cul7	T	A	17: 46,657,007	L707Q	probably damaging	Het
D430041D05Rik	G	A	2: 104,255,018	T378I	possibly damaging	Het
Dixdc1	T	C	9: 50,688,653	I364V	probably damaging	Het
Dnah11	T	A	12: 118,018,742	H2564L	probably damaging	Het
Dnajc3	T	C	14: 118,938,164	Y26H	probably benign	Het
Dpysl2	G	A	14: 66,834,215	H159Y	possibly damaging	Het
Ehmt1	T	A	2: 24,856,701	K423I	possibly damaging	Het
Enpp7	A	G	11: 118,992,159	N353S	probably benign	Het
Ext1	G	A	15: 53,344,723	A214V	probably damaging	Het
Fbxo18	A	T	2: 11,747,076	I937N	probably damaging	Het
Fbxo39	T	C	11: 72,316,974	Y51H	possibly damaging	Het
Fry	A	G	5: 150,436,847	H1986R	possibly damaging	Het
Gm2022	A	G	12: 87,895,400	N11D	unknown	Het
Grem2	T	C	1: 174,836,948	K112E	probably benign	Het
Gucy1a1	A	G	3: 82,097,720	V586A	probably damaging	Het
Il12rb2	G	T	6: 67,303,466	L586I	possibly damaging	Het
Il18	T	C	9: 50,579,314	I83T	probably damaging	Het
Irs1	A	T	1: 82,289,114	Y460*	probably null	Het
Jak1	G	T	4: 101,184,339	Q161K	possibly damaging	Het
Jakmip1	T	A	5: 37,118,804	L486Q	probably damaging	Het
Jmjd1c	C	A	10: 67,218,364	Q16K	probably benign	Het
Kidins220	T	C	12: 25,057,000	L1393P	probably benign	Het
Klhl24	A	C	16: 20,118,000	I453L	probably benign	Het
Krtap2-4	C	T	11: 99,614,594	D64N	probably damaging	Het
Man1a	T	A	10: 53,908,009	D592V	probably damaging	Het
Mepe	T	A	5: 104,337,143	Y50N	probably benign	Het
Mier3	G	A	13: 111,705,249	G115S	possibly damaging	Het
Muc4	T	A	16: 32,754,670	S1515T	probably benign	Het
Nalcn	T	C	14: 123,291,839	D1408G	probably benign	Het
Nav1	T	C	1: 135,452,853	M1443V	unknown	Het
Nckap1l	A	C	15: 103,471,282	N332T	possibly damaging	Het
Neurl4	T	A	11: 69,912,079	L1467Q	probably benign	Het
Notch2	A	G	3: 98,131,402	N1287S	probably benign	Het
Nr4a3	C	T	4: 48,083,203	P579S	probably benign	Het
Nrxn2	A	T	19: 6,517,082	H1329L	probably benign	Het
Nynrin	A	T	14: 55,870,400	H988L	possibly damaging	Het
Olfr1183	A	G	2: 88,461,492	T70A	probably benign	Het
Olfr140	A	G	2: 90,051,745	I193T	probably benign	Het
Olfr394	T	A	11: 73,888,001	I124F	probably damaging	Het
Olfr594	G	T	7: 103,220,623	D302Y	possibly damaging	Het
Olfr855	T	A	9: 19,584,560	F8I	probably benign	Het
Pclo	G	A	5: 14,793,868	S1534N	probably damaging	Het
Pign	A	G	1: 105,585,053	V635A	probably benign	Het
Pkhd1	T	C	1: 20,593,953	T134A	probably damaging	Het
Plcb4	A	T	2: 135,976,148	N790I	possibly damaging	Het
Plxna2	G	T	1: 194,799,779	C1453F	probably damaging	Het
Plxna4	A	G	6: 32,196,122		probably null	Het
Pnpla2	A	G	7: 141,457,431	I116V	possibly damaging	Het
Polq	A	G	16: 37,060,428	T985A	probably benign	Het
Ppp1r32	T	G	19: 10,479,579	D134A	probably damaging	Het
Pramef6	T	C	4: 143,895,886	T300A	possibly damaging	Het
Prex1	T	C	2: 166,713,570	N50S	probably benign	Het
Ptgfrn	G	A	3: 101,077,444	A144V	probably benign	Het
Rad54b	G	A	4: 11,599,782	G329S	probably damaging	Het
Rrbp1	A	G	2: 143,967,444	L931S	probably benign	Het
Sipa1l2	A	G	8: 125,453,332	S1109P	probably damaging	Het
Slc26a7	G	T	4: 14,546,305	N341K	probably damaging	Het
Smg1	A	C	7: 118,184,977	D958E	unknown	Het
Smg6	T	A	11: 74,930,153	S417T	probably benign	Het
Srgap3	A	G	6: 112,746,921	V550A	probably damaging	Het
Terb1	T	A	8: 104,468,799	D570V	probably damaging	Het
Tet3	A	G	6: 83,368,094	V1787A	probably benign	Het
Tor1a	A	T	2: 30,963,741	D192E	probably benign	Het
Tpr	T	C	1: 150,447,621	S2379P	possibly damaging	Het
Trip12	A	T	1: 84,750,442	F1138L	probably damaging	Het
Trpv1	T	C	11: 73,260,377	L797P	probably damaging	Het
Tut1	T	C	19: 8,965,334	L595P	probably damaging	Het
Ubl7	T	C	9: 57,914,622	S85P	probably damaging	Het
Urb1	C	A	16: 90,774,768	S1051I	probably damaging	Het
Usp17le	A	G	7: 104,768,877	W353R	probably damaging	Het
Usp44	T	C	10: 93,846,468	L260S	probably benign	Het
Wsb1	T	A	11: 79,240,797		probably null	Het
Xrcc2	A	T	5: 25,692,757	C65S	probably damaging	Het
Zfp316	T	A	5: 143,254,675	M530L	probably benign	Het
Zfp473	T	C	7: 44,733,139	H590R	probably damaging	Het
Zfp983	T	A	17: 21,661,934	H259Q	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
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
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'- CAAAGGACTTGGCAGCTGTG -3'
(R):5'- TGCCATGGATCTTAATAGGCACAAG -3'

Sequencing Primer
(F):5'- AGGGGTCCTTCTCAAAACCGTC -3'
(R):5'- TAGGCACAAGTTGTCAGCATCTC -3'

Posted On

2019-09-13