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

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R7361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21373510-21423633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21375602 bp (GRCm39)

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: 132,604,434 (GRCm39)	V4I	unknown	Het
Actn1	A	T	12: 80,240,489 (GRCm39)	D199E	probably benign	Het
Agmat	T	C	4: 141,474,163 (GRCm39)	S15P	probably benign	Het
Ahsa2	A	G	11: 23,441,099 (GRCm39)	S229P	probably damaging	Het
Arhgef3	A	G	14: 26,987,535 (GRCm39)	D36G	possibly damaging	Het
C6	C	A	15: 4,826,404 (GRCm39)	Y662*	probably null	Het
Ccs	T	C	19: 4,883,378 (GRCm39)	D140G	probably benign	Het
Cdc42bpb	A	G	12: 111,312,039 (GRCm39)	L65P	probably damaging	Het
Cdh24	A	T	14: 54,876,378 (GRCm39)	V149E	possibly damaging	Het
Cdk12	C	A	11: 98,101,294 (GRCm39)	S384*	probably null	Het
Cep350	G	A	1: 155,777,237 (GRCm39)	A1701V	probably damaging	Het
Ces1g	T	C	8: 94,060,307 (GRCm39)	Q104R	not run	Het
Chd5	A	G	4: 152,447,745 (GRCm39)	H537R	probably damaging	Het
Cln5	T	A	14: 103,313,339 (GRCm39)	V197D	probably damaging	Het
Coq7	A	G	7: 118,128,798 (GRCm39)	V79A	probably benign	Het
Cp	A	T	3: 20,018,470 (GRCm39)	N58I	probably benign	Het
Cplx2	A	T	13: 54,526,639 (GRCm39)	M16L	probably benign	Het
Crot	A	G	5: 9,027,534 (GRCm39)	L266S	probably damaging	Het
Ctbs	T	A	3: 146,164,509 (GRCm39)	Y221N	probably damaging	Het
Cul7	T	A	17: 46,967,933 (GRCm39)	L707Q	probably damaging	Het
D430041D05Rik	G	A	2: 104,085,363 (GRCm39)	T378I	possibly damaging	Het
Dixdc1	T	C	9: 50,599,953 (GRCm39)	I364V	probably damaging	Het
Dnah11	T	A	12: 117,982,477 (GRCm39)	H2564L	probably damaging	Het
Dnajc3	T	C	14: 119,175,576 (GRCm39)	Y26H	probably benign	Het
Dpysl2	G	A	14: 67,071,664 (GRCm39)	H159Y	possibly damaging	Het
Ehmt1	T	A	2: 24,746,713 (GRCm39)	K423I	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,170 (GRCm39)	N11D	unknown	Het
Enpp7	A	G	11: 118,882,985 (GRCm39)	N353S	probably benign	Het
Ext1	G	A	15: 53,208,119 (GRCm39)	A214V	probably damaging	Het
Fbh1	A	T	2: 11,751,887 (GRCm39)	I937N	probably damaging	Het
Fbxo39	T	C	11: 72,207,800 (GRCm39)	Y51H	possibly damaging	Het
Firrm	A	T	1: 163,813,602 (GRCm39)	D207E	possibly damaging	Het
Fry	A	G	5: 150,360,312 (GRCm39)	H1986R	possibly damaging	Het
Grem2	T	C	1: 174,664,514 (GRCm39)	K112E	probably benign	Het
Gucy1a1	A	G	3: 82,005,027 (GRCm39)	V586A	probably damaging	Het
Il12rb2	G	T	6: 67,280,450 (GRCm39)	L586I	possibly damaging	Het
Il18	T	C	9: 50,490,614 (GRCm39)	I83T	probably damaging	Het
Irs1	A	T	1: 82,266,835 (GRCm39)	Y460*	probably null	Het
Jak1	G	T	4: 101,041,536 (GRCm39)	Q161K	possibly damaging	Het
Jakmip1	T	A	5: 37,276,148 (GRCm39)	L486Q	probably damaging	Het
Jmjd1c	C	A	10: 67,054,143 (GRCm39)	Q16K	probably benign	Het
Kidins220	T	C	12: 25,106,999 (GRCm39)	L1393P	probably benign	Het
Klhl24	A	C	16: 19,936,750 (GRCm39)	I453L	probably benign	Het
Krtap2-4	C	T	11: 99,505,420 (GRCm39)	D64N	probably damaging	Het
Man1a	T	A	10: 53,784,105 (GRCm39)	D592V	probably damaging	Het
Mepe	T	A	5: 104,485,009 (GRCm39)	Y50N	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Muc4	T	A	16: 32,754,670 (GRCm38)	S1515T	probably benign	Het
Nalcn	T	C	14: 123,529,251 (GRCm39)	D1408G	probably benign	Het
Nav1	T	C	1: 135,380,591 (GRCm39)	M1443V	unknown	Het
Nckap1l	A	C	15: 103,379,709 (GRCm39)	N332T	possibly damaging	Het
Neurl4	T	A	11: 69,802,905 (GRCm39)	L1467Q	probably benign	Het
Notch2	A	G	3: 98,038,718 (GRCm39)	N1287S	probably benign	Het
Nr4a3	C	T	4: 48,083,203 (GRCm39)	P579S	probably benign	Het
Nrxn2	A	T	19: 6,567,112 (GRCm39)	H1329L	probably benign	Het
Nynrin	A	T	14: 56,107,857 (GRCm39)	H988L	possibly damaging	Het
Or1e34	T	A	11: 73,778,827 (GRCm39)	I124F	probably damaging	Het
Or4c31	A	G	2: 88,291,836 (GRCm39)	T70A	probably benign	Het
Or4c3d	A	G	2: 89,882,089 (GRCm39)	I193T	probably benign	Het
Or52e3	G	T	7: 102,869,830 (GRCm39)	D302Y	possibly damaging	Het
Or7g35	T	A	9: 19,495,856 (GRCm39)	F8I	probably benign	Het
Pclo	G	A	5: 14,843,882 (GRCm39)	S1534N	probably damaging	Het
Pign	A	G	1: 105,512,778 (GRCm39)	V635A	probably benign	Het
Pkhd1	T	C	1: 20,664,177 (GRCm39)	T134A	probably damaging	Het
Plcb4	A	T	2: 135,818,068 (GRCm39)	N790I	possibly damaging	Het
Plxna2	G	T	1: 194,482,087 (GRCm39)	C1453F	probably damaging	Het
Plxna4	A	G	6: 32,173,057 (GRCm39)		probably null	Het
Pnpla2	A	G	7: 141,037,344 (GRCm39)	I116V	possibly damaging	Het
Polq	A	G	16: 36,880,790 (GRCm39)	T985A	probably benign	Het
Pramel11	T	C	4: 143,622,456 (GRCm39)	T300A	possibly damaging	Het
Prex1	T	C	2: 166,555,490 (GRCm39)	N50S	probably benign	Het
Ptgfrn	G	A	3: 100,984,760 (GRCm39)	A144V	probably benign	Het
Rad54b	G	A	4: 11,599,782 (GRCm39)	G329S	probably damaging	Het
Rrbp1	A	G	2: 143,809,364 (GRCm39)	L931S	probably benign	Het
Saxo4	T	G	19: 10,456,943 (GRCm39)	D134A	probably damaging	Het
Sipa1l2	A	G	8: 126,180,071 (GRCm39)	S1109P	probably damaging	Het
Slc26a7	G	T	4: 14,546,305 (GRCm39)	N341K	probably damaging	Het
Smg1	A	C	7: 117,784,200 (GRCm39)	D958E	unknown	Het
Smg6	T	A	11: 74,820,979 (GRCm39)	S417T	probably benign	Het
Srgap3	A	G	6: 112,723,882 (GRCm39)	V550A	probably damaging	Het
Terb1	T	A	8: 105,195,431 (GRCm39)	D570V	probably damaging	Het
Tet3	A	G	6: 83,345,076 (GRCm39)	V1787A	probably benign	Het
Tor1a	A	T	2: 30,853,753 (GRCm39)	D192E	probably benign	Het
Tpr	T	C	1: 150,323,372 (GRCm39)	S2379P	possibly damaging	Het
Trip12	A	T	1: 84,728,163 (GRCm39)	F1138L	probably damaging	Het
Trpv1	T	C	11: 73,151,203 (GRCm39)	L797P	probably damaging	Het
Tut1	T	C	19: 8,942,698 (GRCm39)	L595P	probably damaging	Het
Ubl7	T	C	9: 57,821,905 (GRCm39)	S85P	probably damaging	Het
Urb1	C	A	16: 90,571,656 (GRCm39)	S1051I	probably damaging	Het
Usp17le	A	G	7: 104,418,084 (GRCm39)	W353R	probably damaging	Het
Usp44	T	C	10: 93,682,330 (GRCm39)	L260S	probably benign	Het
Wsb1	T	A	11: 79,131,623 (GRCm39)		probably null	Het
Xrcc2	A	T	5: 25,897,755 (GRCm39)	C65S	probably damaging	Het
Zfp316	T	A	5: 143,240,430 (GRCm39)	M530L	probably benign	Het
Zfp473	T	C	7: 44,382,563 (GRCm39)	H590R	probably damaging	Het
Zfp983	T	A	17: 21,880,850 (GRCm39)	H259Q	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
R6970:Adam17	UTSW	12	21,395,669 (GRCm39)	missense	probably benign	0.06
R7213:Adam17	UTSW	12	21,386,679 (GRCm39)	nonsense	probably null
R7302:Adam17	UTSW	12	21,405,694 (GRCm39)	intron	probably benign
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'- CAAAGGACTTGGCAGCTGTG -3'
(R):5'- TGCCATGGATCTTAATAGGCACAAG -3'

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

Posted On

2019-09-13