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

045080-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21373510-21423633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21395669 bp (GRCm39)

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
Acadsb	T	C	7: 131,036,044 (GRCm39)	Y285H	possibly damaging	Het
Adcy10	A	G	1: 165,384,485 (GRCm39)	N1082S	probably benign	Het
Ahdc1	T	A	4: 132,789,656 (GRCm39)	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,602,945 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,895,805 (GRCm39)	V543A	probably damaging	Het
BC034090	T	A	1: 155,117,185 (GRCm39)	D311V	probably damaging	Het
Blnk	G	T	19: 40,950,821 (GRCm39)	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,875,927 (GRCm39)	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,529,903 (GRCm39)	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,491,954 (GRCm39)	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,507,248 (GRCm39)	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,723,902 (GRCm39)	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,008,149 (GRCm39)	F188L	probably benign	Het
Cplane1	T	C	15: 8,217,032 (GRCm39)	V750A	probably benign	Het
Dclk1	A	T	3: 55,374,022 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,587,674 (GRCm39)	L434H	probably damaging	Het
Ddx51	G	A	5: 110,804,728 (GRCm39)	V547M	probably damaging	Het
Dnah11	T	A	12: 118,072,679 (GRCm39)	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,156,629 (GRCm39)	E149G	probably damaging	Het
Efcab3	A	G	11: 104,667,182 (GRCm39)	E1422G	probably benign	Het
Eif1ad8	G	T	12: 87,563,388 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,035,924 (GRCm39)	N3192S	probably damaging	Het
Fat4	A	T	3: 39,050,120 (GRCm39)	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,191,936 (GRCm39)		probably null	Het
Gm12185	G	A	11: 48,798,739 (GRCm39)	R585*	probably null	Het
Gm32687	A	G	10: 81,715,304 (GRCm39)	H232R	probably benign	Het
Gm5431	G	T	11: 48,779,317 (GRCm39)	A535D	probably damaging	Het
Jarid2	C	T	13: 45,056,461 (GRCm39)	P556S	probably damaging	Het
Map3k4	C	A	17: 12,467,803 (GRCm39)	G1077V	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mlxip	A	G	5: 123,583,735 (GRCm39)	T433A	possibly damaging	Het
Ms4a20	A	G	19: 11,089,678 (GRCm39)		probably null	Het
Mus81	G	T	19: 5,535,554 (GRCm39)	H199Q	probably benign	Het
Mylk3	G	A	8: 86,085,892 (GRCm39)	T54M	probably damaging	Het
Nalcn	A	G	14: 123,551,506 (GRCm39)	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,710,228 (GRCm39)	S513A	probably benign	Het
Ninj2	A	G	6: 120,175,092 (GRCm39)	I88V	possibly damaging	Het
Nomo1	C	T	7: 45,695,391 (GRCm39)	P277L	probably damaging	Het
Nup214	C	T	2: 31,941,810 (GRCm39)	S571L	probably damaging	Het
Or10g9b	T	A	9: 39,918,009 (GRCm39)	M79L	probably benign	Het
Or5b3	T	A	19: 13,388,792 (GRCm39)	N286K	probably damaging	Het
Or9a7	T	C	6: 40,521,590 (GRCm39)	S108G	probably benign	Het
Pcdh15	C	T	10: 74,338,519 (GRCm39)	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,375,070 (GRCm39)	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,000,860 (GRCm39)	C34R	probably damaging	Het
Plekha2	T	C	8: 25,549,280 (GRCm39)	Q168R	probably benign	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plekhm3	T	G	1: 64,931,912 (GRCm39)	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,366,380 (GRCm39)	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,241,119 (GRCm39)	Y302*	probably null	Het
Prdm8	A	G	5: 98,332,471 (GRCm39)	E124G	probably damaging	Het
Prg4	T	G	1: 150,331,657 (GRCm39)		probably benign	Het
Qser1	A	G	2: 104,618,475 (GRCm39)	V779A	probably benign	Het
Rbm39	G	A	2: 156,009,504 (GRCm39)	R123C	probably damaging	Het
Ric1	C	T	19: 29,565,172 (GRCm39)	P640S	probably damaging	Het
Rpl14	G	A	9: 120,403,293 (GRCm39)		probably benign	Het
Rsl1d1	T	A	16: 11,011,558 (GRCm39)	D382V	probably benign	Het
Rubcn	G	T	16: 32,688,514 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,247,798 (GRCm39)	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,151,960 (GRCm39)	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,327,690 (GRCm39)	Y674S	probably damaging	Het
Spata31e3	A	T	13: 50,401,007 (GRCm39)	Y440N	possibly damaging	Het
Strc	A	C	2: 121,208,495 (GRCm39)	M292R	probably benign	Het
Syde2	A	G	3: 145,694,381 (GRCm39)	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,743,480 (GRCm39)	A97E	probably benign	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tepsin	G	A	11: 119,986,190 (GRCm39)	T168M	probably damaging	Het
Tex15	A	T	8: 34,047,456 (GRCm39)	M178L	probably benign	Het
Tgfbr2	T	C	9: 115,939,119 (GRCm39)	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,713,744 (GRCm39)	V2531A	probably damaging	Het
Ttn	T	G	2: 76,725,767 (GRCm39)		probably benign	Het
Tubgcp3	G	T	8: 12,687,000 (GRCm39)	D630E	probably damaging	Het
Ubr4	G	A	4: 139,133,839 (GRCm39)	W745*	probably null	Het
Vmn2r115	G	A	17: 23,564,989 (GRCm39)	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,078,340 (GRCm39)	K681*	probably null	Het
Xrcc6	A	G	15: 81,915,375 (GRCm39)	K98E	probably benign	Het
Zfp423	A	G	8: 88,530,407 (GRCm39)	V13A	probably benign	Het
Zfp512b	A	G	2: 181,228,141 (GRCm39)	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,717,670 (GRCm39)	E14K	probably damaging	Het

Other mutations in Adam17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Adam17	APN	12	21,378,110 (GRCm39)	missense	probably damaging	1.00
IGL01340:Adam17	APN	12	21,380,058 (GRCm39)	nonsense	probably null
IGL01973:Adam17	APN	12	21,399,944 (GRCm39)	missense	probably damaging	1.00
IGL02223:Adam17	APN	12	21,411,706 (GRCm39)	missense	possibly damaging	0.92
IGL03153:Adam17	APN	12	21,395,698 (GRCm39)	missense	probably damaging	1.00
Steinway	UTSW	12	21,403,949 (GRCm39)	missense	probably damaging	1.00
wavedx	UTSW	12	21,390,751 (GRCm39)	missense	probably damaging	1.00
R0014:Adam17	UTSW	12	21,386,645 (GRCm39)	missense	probably benign	0.36
R0080:Adam17	UTSW	12	21,379,049 (GRCm39)	splice site	probably benign
R0082:Adam17	UTSW	12	21,379,049 (GRCm39)	splice site	probably benign
R0324:Adam17	UTSW	12	21,399,939 (GRCm39)	missense	probably benign	0.00
R0511:Adam17	UTSW	12	21,390,459 (GRCm39)	splice site	probably benign
R0745:Adam17	UTSW	12	21,382,222 (GRCm39)	splice site	probably benign
R1314:Adam17	UTSW	12	21,379,072 (GRCm39)	missense	probably damaging	1.00
R1547:Adam17	UTSW	12	21,403,958 (GRCm39)	missense	probably damaging	1.00
R1594:Adam17	UTSW	12	21,390,471 (GRCm39)	critical splice donor site	probably null
R1607:Adam17	UTSW	12	21,384,139 (GRCm39)	splice site	probably null
R1812:Adam17	UTSW	12	21,411,768 (GRCm39)	missense	probably damaging	0.97
R2020:Adam17	UTSW	12	21,399,876 (GRCm39)	missense	probably damaging	1.00
R3408:Adam17	UTSW	12	21,379,119 (GRCm39)	missense	probably damaging	1.00
R3735:Adam17	UTSW	12	21,375,413 (GRCm39)	missense	probably benign	0.05
R3886:Adam17	UTSW	12	21,375,588 (GRCm39)	missense	probably damaging	1.00
R3888:Adam17	UTSW	12	21,375,588 (GRCm39)	missense	probably damaging	1.00
R4062:Adam17	UTSW	12	21,375,458 (GRCm39)	missense	probably damaging	1.00
R4415:Adam17	UTSW	12	21,395,702 (GRCm39)	missense	possibly damaging	0.90
R4563:Adam17	UTSW	12	21,382,089 (GRCm39)	missense	probably damaging	1.00
R4658:Adam17	UTSW	12	21,382,161 (GRCm39)	missense	probably damaging	1.00
R4763:Adam17	UTSW	12	21,384,016 (GRCm39)	missense	probably benign
R4793:Adam17	UTSW	12	21,397,396 (GRCm39)	missense	probably benign
R5101:Adam17	UTSW	12	21,423,406 (GRCm39)	missense	possibly damaging	0.85
R5120:Adam17	UTSW	12	21,393,020 (GRCm39)	intron	probably benign
R5514:Adam17	UTSW	12	21,390,520 (GRCm39)	missense	probably damaging	0.98
R5592:Adam17	UTSW	12	21,384,138 (GRCm39)	missense	probably damaging	1.00
R5874:Adam17	UTSW	12	21,379,087 (GRCm39)	missense	possibly damaging	0.76
R6110:Adam17	UTSW	12	21,403,949 (GRCm39)	missense	probably damaging	1.00
R6451:Adam17	UTSW	12	21,392,883 (GRCm39)	missense	probably benign	0.00
R6930:Adam17	UTSW	12	21,403,949 (GRCm39)	missense	probably damaging	1.00
R7213:Adam17	UTSW	12	21,386,679 (GRCm39)	nonsense	probably null
R7302:Adam17	UTSW	12	21,405,694 (GRCm39)	intron	probably benign
R7361:Adam17	UTSW	12	21,375,602 (GRCm39)	missense	probably damaging	0.98
R7667:Adam17	UTSW	12	21,383,953 (GRCm39)	critical splice donor site	probably null
R7799:Adam17	UTSW	12	21,390,493 (GRCm39)	missense	probably damaging	1.00
R8762:Adam17	UTSW	12	21,401,595 (GRCm39)	missense	probably benign	0.03
R8958:Adam17	UTSW	12	21,399,934 (GRCm39)	missense	possibly damaging	0.61
R9108:Adam17	UTSW	12	21,380,132 (GRCm39)	missense	probably benign
R9163:Adam17	UTSW	12	21,401,588 (GRCm39)	missense	probably benign	0.00
R9295:Adam17	UTSW	12	21,399,938 (GRCm39)	missense	probably benign	0.02
R9345:Adam17	UTSW	12	21,378,056 (GRCm39)	missense	probably damaging	1.00
R9444:Adam17	UTSW	12	21,375,536 (GRCm39)	missense	probably benign	0.28
R9522:Adam17	UTSW	12	21,395,693 (GRCm39)	missense	probably damaging	1.00
R9582:Adam17	UTSW	12	21,386,665 (GRCm39)	missense	probably benign	0.14
X0063:Adam17	UTSW	12	21,382,586 (GRCm39)	missense	probably benign	0.17
Z1176:Adam17	UTSW	12	21,411,738 (GRCm39)	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