Mutagenetix > Incidental Mutations

Incidental Mutation 'R4754:Adam8'

357814

Institutional Source

Beutler Lab

Gene Symbol

Adam8

Ensembl Gene

ENSMUSG00000025473

Gene Name

a disintegrin and metallopeptidase domain 8

Synonyms

CD156, MS2, E430039A18Rik, CD156a

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139978932-139992562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139984780 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 681 (I681N)

Ref Sequence

ENSEMBL: ENSMUSP00000117858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026546] [ENSMUST00000106069] [ENSMUST00000148670] [ENSMUST00000173209]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026546
AA Change: I675N

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: I675N

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	151	5.9e-35	PFAM
Pfam:Reprolysin_5	193	371	1e-22	PFAM
Pfam:Reprolysin_4	193	384	1.7e-16	PFAM
Pfam:Reprolysin	195	394	2.7e-70	PFAM
Pfam:Reprolysin_2	214	384	1.6e-16	PFAM
Pfam:Reprolysin_3	218	339	4.9e-21	PFAM
DISIN	411	486	5.16e-36	SMART
ACR	487	606	2.15e-35	SMART
EGF	613	642	3.06e-1	SMART
transmembrane domain	660	682	N/A	INTRINSIC
low complexity region	732	762	N/A	INTRINSIC
low complexity region	770	783	N/A	INTRINSIC
low complexity region	784	812	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106069
AA Change: I676N

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: I676N

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	28	152	4e-30	PFAM
Pfam:Reprolysin_5	194	372	9.6e-23	PFAM
Pfam:Reprolysin_4	194	385	1.6e-16	PFAM
Pfam:Reprolysin	196	395	2.2e-73	PFAM
Pfam:Reprolysin_2	215	385	2.9e-18	PFAM
Pfam:Reprolysin_3	219	340	6.6e-21	PFAM
DISIN	412	487	5.16e-36	SMART
ACR	488	607	2.15e-35	SMART
EGF	614	643	3.06e-1	SMART
transmembrane domain	661	683	N/A	INTRINSIC
low complexity region	733	763	N/A	INTRINSIC
low complexity region	771	784	N/A	INTRINSIC
low complexity region	785	813	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132903

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148670
AA Change: I681N

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
AA Change: I681N

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	151	1.8e-35	PFAM
Pfam:Reprolysin_5	193	371	3.6e-23	PFAM
Pfam:Reprolysin_4	193	384	6e-17	PFAM
Pfam:Reprolysin	195	394	8.2e-71	PFAM
Pfam:Reprolysin_2	214	384	5.8e-17	PFAM
Pfam:Reprolysin_3	218	339	1.7e-21	PFAM
DISIN	411	486	5.16e-36	SMART
ACR	487	612	2.21e-32	SMART
EGF	619	648	3.06e-1	SMART
transmembrane domain	666	688	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156647

Predicted Effect

probably benign
Transcript: ENSMUST00000173209

SMART Domains

Protein: ENSMUSP00000133673
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	31	45	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185038

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (107/109)

MGI Phenotype

FUNCTION: This gene encodes a member of the Adam family of proteins that contain the disintegrin and metalloprotease domains. The encoded protein is localized to the cell surface, where it is involved in the remodeling of extracellular matrix and cell migration. Mice lacking the encoded protein display persistent inflammation upon treatment with allergens. Alternative splicing of this gene results in multiple variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080E11Rik	A	T	9: 105,144,393	F151L	probably benign	Het
4932438A13Rik	C	T	3: 37,022,466	Q3663*	probably null	Het
A130010J15Rik	A	G	1: 193,174,529	Y63C	probably damaging	Het
Abcb4	C	A	5: 8,910,717	F266L	probably damaging	Het
Adgrf3	T	A	5: 30,197,617		probably null	Het
Ang2	A	G	14: 51,195,517	V136A	probably damaging	Het
Ankar	C	T	1: 72,698,694	G110R	probably damaging	Het
Ap3b1	T	C	13: 94,403,960	L130P	probably damaging	Het
Apc2	T	G	10: 80,314,358	W1749G	probably benign	Het
Asb2	T	C	12: 103,323,837	N565S	possibly damaging	Het
B3gnt7	C	A	1: 86,305,557	T58K	probably benign	Het
Brpf1	T	A	6: 113,320,447	N876K	possibly damaging	Het
Ccdc157	T	C	11: 4,148,994	I69V	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh20	A	T	1: 104,984,685	I555F	probably damaging	Het
Cfap73	T	C	5: 120,629,664	D274G	probably damaging	Het
Chd5	T	A	4: 152,377,746	I1310N	probably damaging	Het
Ckap2	T	A	8: 22,168,895	I611F	possibly damaging	Het
Cpeb2	A	G	5: 43,285,857	I964V	possibly damaging	Het
Ctbp2	C	A	7: 133,023,558		probably null	Het
Dhrs2	A	T	14: 55,238,748	I142F	probably damaging	Het
Dnah5	T	A	15: 28,420,955		probably null	Het
Dst	T	C	1: 34,212,309	S1822P	probably damaging	Het
Ect2	T	C	3: 27,126,963	K581E	probably damaging	Het
Edem1	C	T	6: 108,841,697	T222M	probably damaging	Het
Eif2ak1	A	G	5: 143,901,803	M592V	probably damaging	Het
Endou	T	G	15: 97,726,539	D49A	probably damaging	Het
Ensa	A	G	3: 95,622,554		probably benign	Het
Evc2	G	T	5: 37,387,031	R708L	probably damaging	Het
Fam120b	T	A	17: 15,422,962	C668S	probably damaging	Het
Fam135a	A	T	1: 24,028,754	C798*	probably null	Het
Fam135b	T	C	15: 71,462,951	D798G	probably benign	Het
Fam208a	A	T	14: 27,461,095	I504L	probably benign	Het
Fshb	A	C	2: 107,057,282	*131E	probably null	Het
G3bp2	C	T	5: 92,054,909	V441M	possibly damaging	Het
Galnt6	A	T	15: 100,699,224	F354I	probably damaging	Het
Gm1123	C	A	9: 99,023,240		probably null	Het
Gm1123	A	T	9: 99,023,241		probably null	Het
Gm15130	T	C	2: 111,142,862	N115S	unknown	Het
Gm7104	A	G	12: 88,285,995		noncoding transcript	Het
Gm9762	A	T	3: 78,966,421		noncoding transcript	Het
Grip2	A	G	6: 91,779,182	V508A	probably damaging	Het
Grip2	T	C	6: 91,779,192	T505A	probably damaging	Het
Haus4	A	G	14: 54,549,892		probably null	Het
Herc1	T	A	9: 66,501,206	D4571E	probably benign	Het
Hnrnpk	T	A	13: 58,399,136		probably benign	Het
Ica1l	T	C	1: 60,028,162	Y23C	probably damaging	Het
Kansl2-ps	A	G	7: 72,673,133		noncoding transcript	Het
Kcnma1	T	C	14: 23,363,836	D833G	probably damaging	Het
Kmt2e	A	T	5: 23,482,441	I430F	possibly damaging	Het
Lama2	C	A	10: 27,118,531	R1794L	possibly damaging	Het
Mcpt1	T	A	14: 56,018,680	F59I	probably damaging	Het
Mib2	G	T	4: 155,655,365	T783K	possibly damaging	Het
Nlrp4g	T	C	9: 124,349,788		noncoding transcript	Het
Obscn	T	C	11: 59,036,043	I6352V	possibly damaging	Het
Olfr1245	A	T	2: 89,575,047	H226Q	probably benign	Het
Olfr1456-ps1	T	A	19: 13,078,861		noncoding transcript	Het
Olfr531	C	T	7: 140,400,159	A296T	probably damaging	Het
Olfr68	T	C	7: 103,777,668	I226V	probably benign	Het
Olfr728	T	A	14: 50,140,033	N202I	possibly damaging	Het
Olfr728	T	G	14: 50,140,034	N202H	probably benign	Het
Pcdh10	G	A	3: 45,380,637	R462H	probably damaging	Het
Pcdhga12	C	A	18: 37,766,551	N145K	probably damaging	Het
Pik3r6	T	A	11: 68,544,775	L613Q	probably damaging	Het
Pknox2	T	C	9: 36,909,720	D282G	probably damaging	Het
Plod2	T	G	9: 92,606,531	Y624*	probably null	Het
Prkd3	C	A	17: 78,956,614	V684F	probably damaging	Het
Ptpn1	T	A	2: 167,974,160	V198D	probably damaging	Het
Ptpn12	G	T	5: 20,998,589	P397Q	probably benign	Het
Rad1	C	A	15: 10,493,126		probably benign	Het
Rasl11a	A	G	5: 146,847,015	D90G	probably benign	Het
Rnf181	A	G	6: 72,360,560		probably benign	Het
Ryr3	T	C	2: 112,757,639	I2652M	possibly damaging	Het
Siglecg	C	T	7: 43,411,871		probably benign	Het
Slc22a3	T	C	17: 12,507,195	S44G	probably benign	Het
Slc38a1	A	T	15: 96,576,782	F463I	probably damaging	Het
Smg1	A	T	7: 118,156,731		probably benign	Het
Syk	T	C	13: 52,612,259		probably benign	Het
Tbc1d5	T	C	17: 50,800,165	I454M	probably benign	Het
Tmed6	C	A	8: 107,063,730	D146Y	probably damaging	Het
Tmem132e	A	T	11: 82,444,851	K828*	probably null	Het
Tmprss15	A	T	16: 79,054,124	S294T	probably damaging	Het
Trp53bp1	A	G	2: 121,207,879	S1493P	probably damaging	Het
Tshb	A	T	3: 102,778,175	I46N	probably damaging	Het
Tspan11	T	C	6: 127,938,220	V99A	probably benign	Het
Ttn	T	C	2: 76,715,561	T24176A	probably benign	Het
Vmn1r8	T	C	6: 57,035,967	M1T	probably null	Het
Vmn2r104	A	T	17: 20,040,768	Y464*	probably null	Het
Vmn2r110	T	C	17: 20,596,196	T22A	probably benign	Het
Vmn2r17	T	A	5: 109,452,849	I671K	probably damaging	Het
Zbtb21	T	C	16: 97,951,266	N606D	probably damaging	Het
Zfy2	A	T	Y: 2,121,477	S139T	probably benign	Het
Zkscan17	G	A	11: 59,503,025	R156*	probably null	Het
Zp2	A	G	7: 120,138,318	V248A	probably benign	Het

Other mutations in Adam8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Adam8	APN	7	139987245	missense	probably damaging	1.00
IGL02044:Adam8	APN	7	139982822	missense	possibly damaging	0.85
IGL02228:Adam8	APN	7	139988806	splice site	probably null
IGL02257:Adam8	APN	7	139987648	missense	possibly damaging	0.88
IGL03101:Adam8	APN	7	139988543	missense	possibly damaging	0.56
R0320:Adam8	UTSW	7	139986442	missense	probably damaging	1.00
R0384:Adam8	UTSW	7	139986812	unclassified	probably benign
R1169:Adam8	UTSW	7	139983929	missense	probably benign	0.11
R1340:Adam8	UTSW	7	139991377	missense	probably damaging	0.99
R1699:Adam8	UTSW	7	139983311	missense	possibly damaging	0.72
R3725:Adam8	UTSW	7	139983868	missense	possibly damaging	0.63
R3874:Adam8	UTSW	7	139987607	missense	probably damaging	1.00
R4716:Adam8	UTSW	7	139983938	missense	probably benign	0.31
R4907:Adam8	UTSW	7	139989373	missense	probably benign	0.03
R5345:Adam8	UTSW	7	139987639	missense	probably benign	0.03
R5579:Adam8	UTSW	7	139988984	missense	probably benign	0.03
R5696:Adam8	UTSW	7	139989246	missense	probably benign	0.03
R5805:Adam8	UTSW	7	139985881	missense	probably damaging	1.00
R5948:Adam8	UTSW	7	139987884	missense	probably benign	0.07
R5991:Adam8	UTSW	7	139990287	missense	probably damaging	1.00
R6280:Adam8	UTSW	7	139984807	missense	probably damaging	0.99
R6456:Adam8	UTSW	7	139986788	missense	possibly damaging	0.96
R7098:Adam8	UTSW	7	139979499	missense	possibly damaging	0.53
R7105:Adam8	UTSW	7	139990055	missense	probably benign	0.00
R7334:Adam8	UTSW	7	139988990	missense	probably damaging	1.00
R7342:Adam8	UTSW	7	139986391	missense	probably benign	0.00
R7382:Adam8	UTSW	7	139990107	missense	possibly damaging	0.74
R7425:Adam8	UTSW	7	139992481	unclassified	probably benign
R7507:Adam8	UTSW	7	139987178	critical splice donor site	probably null
R7637:Adam8	UTSW	7	139985430	missense	probably damaging	0.98
R7904:Adam8	UTSW	7	139987678	missense	probably benign	0.17
R8024:Adam8	UTSW	7	139987576	missense	probably damaging	1.00
R8176:Adam8	UTSW	7	139988873	missense	probably benign	0.03
R8438:Adam8	UTSW	7	139985336	critical splice donor site	probably null
R8439:Adam8	UTSW	7	139987849	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- CTGTTCAACACCCAGAGAGC -3'
(R):5'- CAGGCACTTGACCATATGTGG -3'

Sequencing Primer
(F):5'- AGAGCCCCAGGTTCCCTTATG -3'
(R):5'- TGTGGGACCCAGGACATG -3'

Posted On

2015-11-11