Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Adam8'

276726

Institutional Source

Beutler Lab

Gene Symbol

Adam8

Ensembl Gene

ENSMUSG00000025473

Gene Name

a disintegrin and metallopeptidase domain 8

Synonyms

CD156, MS2, E430039A18Rik, CD156a

MMRRC Submission

040792-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139978932-139992562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139987607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 408 (N408D)

Ref Sequence

ENSEMBL: ENSMUSP00000101684 (fasta)

Gene Model

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

AlphaFold

Q05910

Predicted Effect

probably damaging
Transcript: ENSMUST00000026546
AA Change: N407D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: N407D

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

probably damaging
Transcript: ENSMUST00000106069
AA Change: N408D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: N408D

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

probably damaging
Transcript: ENSMUST00000148670
AA Change: N407D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
AA Change: N407D

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably damaging	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
R4716:Adam8	UTSW	7	139983938	missense	probably benign	0.31
R4754:Adam8	UTSW	7	139984780	missense	possibly damaging	0.87
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
R9077:Adam8	UTSW	7	139987639	missense	probably benign	0.03
R9312:Adam8	UTSW	7	139985878	missense	probably damaging	1.00
R9346:Adam8	UTSW	7	139987721	missense	probably benign	0.00
R9566:Adam8	UTSW	7	139985372	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAATCCCTTATAGGTTATTCGGGG -3'
(R):5'- ACGTGGCTCTTCCTAACGTG -3'

Sequencing Primer
(F):5'- TAGTGACTTATGACCTCAAGGGCC -3'
(R):5'- GTGGACATCCTTACCCATAGC -3'

Posted On

2015-04-06