Mutagenetix > Incidental Mutations

Incidental Mutation 'R4716:Adam8'

354036

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

041983-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139978932-139992562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139983938 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 717 (D717V)

Ref Sequence

ENSEMBL: ENSMUSP00000117858 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026546
AA Change: D711V

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: D711V

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 benign
Transcript: ENSMUST00000106069
AA Change: D712V

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: D712V

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

noncoding transcript
Transcript: ENSMUST00000139218

Predicted Effect

probably benign
Transcript: ENSMUST00000148670
AA Change: D717V

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
AA Change: D717V

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

noncoding transcript
Transcript: ENSMUST00000185038

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	G	19: 45,960,342	S233P	probably damaging	Het
Abi3bp	C	T	16: 56,650,725	R578*	probably null	Het
Aknad1	T	C	3: 108,775,101		probably null	Het
Alk	A	T	17: 72,205,942	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,454,583	Q101*	probably null	Het
Anpep	A	C	7: 79,826,632	S829A	probably benign	Het
Ate1	A	T	7: 130,513,781	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,061,064	L533F	probably damaging	Het
Bach1	T	C	16: 87,715,379		probably benign	Het
Baz2b	T	C	2: 59,969,255	D240G	probably benign	Het
Cdc14b	C	T	13: 64,209,200	S21N	probably damaging	Het
Cdh3	A	G	8: 106,543,888	I466V	probably benign	Het
Cog1	A	G	11: 113,657,097	E137G	probably damaging	Het
Col4a2	A	G	8: 11,402,224	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,802,661		probably null	Het
Dclk2	C	T	3: 86,919,881	R97H	probably damaging	Het
Ddx52	T	C	11: 83,955,205		probably null	Het
Dhx58	C	T	11: 100,696,971		probably null	Het
Dmp1	T	A	5: 104,212,561	S368T	probably damaging	Het
Dnah17	C	A	11: 118,073,648	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,619,576	V10A	probably benign	Het
Dscam	G	T	16: 96,619,571	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,450,592	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648		probably null	Het
F5	A	G	1: 164,193,919	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,314,045	P77S	probably benign	Het
Fars2	G	A	13: 36,205,068	R180H	probably damaging	Het
Fnbp1	T	C	2: 31,055,520	T154A	probably benign	Het
Fsip2	T	A	2: 82,974,859	N507K	probably damaging	Het
Glg1	G	T	8: 111,160,775	Y449*	probably null	Het
Gm15130	A	T	2: 111,134,215	Y187*	probably null	Het
Gm973	A	T	1: 59,552,554	K366*	probably null	Het
Hao1	A	G	2: 134,505,620	I255T	probably damaging	Het
Herc6	T	A	6: 57,598,438	V148E	probably damaging	Het
Hist1h2bj	T	A	13: 22,043,363	V45E	possibly damaging	Het
Insm2	T	A	12: 55,600,892	C474S	possibly damaging	Het
Itch	T	C	2: 155,210,582		probably null	Het
Itga2	A	G	13: 114,857,373	V748A	probably damaging	Het
Itga9	T	A	9: 118,681,758	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,386,178	D338E	probably benign	Het
Krt40	G	A	11: 99,540,219	R155C	probably damaging	Het
Krtap16-1	A	G	11: 99,985,174	V468A	probably damaging	Het
Lactb2	G	A	1: 13,638,395	P143L	probably damaging	Het
Lrba	C	A	3: 86,642,714	T2330K	probably damaging	Het
Lrp2bp	A	T	8: 46,013,171	I106F	probably benign	Het
Luzp2	A	G	7: 54,835,962	K2E	probably damaging	Het
Lypd6	T	C	2: 50,188,843		probably null	Het
Maml1	A	T	11: 50,257,867	D1015E	probably benign	Het
Mdfi	T	G	17: 47,820,981	D106A	possibly damaging	Het
Olfm3	T	C	3: 115,081,106	M17T	probably benign	Het
Olfr136	A	C	17: 38,335,840	I228L	possibly damaging	Het
Olfr1394	A	G	11: 49,160,890	Y292C	probably damaging	Het
Olfr894	T	A	9: 38,219,418	N198K	probably damaging	Het
Olfr948	A	G	9: 39,319,429	F62L	probably benign	Het
Otud7b	T	G	3: 96,150,910	L261V	probably damaging	Het
P2ry1	A	G	3: 61,003,472	N11D	probably damaging	Het
Pate2	T	C	9: 35,685,682		probably benign	Het
Pcdhb16	A	T	18: 37,479,405	T473S	probably benign	Het
Per1	A	G	11: 69,101,231	E137G	probably damaging	Het
Phf11d	T	C	14: 59,353,342	T189A	probably benign	Het
Pik3r5	C	A	11: 68,495,204	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,246,476	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,576,133	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,556,032	N2964K	probably damaging	Het
Plch1	T	G	3: 63,781,546	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,740,469	T363P	possibly damaging	Het
Ppp1r10	T	A	17: 35,929,460	D547E	probably benign	Het
Prkdc	T	A	16: 15,810,837	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,721,868	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,820,968	M73L	probably benign	Het
Rrp12	A	G	19: 41,877,428	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,177,123	F338L	unknown	Het
Slc17a1	G	T	13: 23,880,593	V347L	probably benign	Het
Slc1a2	T	A	2: 102,748,538	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,718,572	V327A	probably benign	Het
Slc6a3	A	C	13: 73,557,076	I229L	probably benign	Het
Sos2	T	C	12: 69,607,371	I703V	probably benign	Het
Srpk1	T	C	17: 28,622,008	T15A	probably benign	Het
St6gal2	A	T	17: 55,510,366	Q510L	probably benign	Het
Stk24	T	C	14: 121,294,718	D289G	possibly damaging	Het
Taf2	T	G	15: 55,065,968	K64T	probably benign	Het
Tbx3	A	G	5: 119,675,670	E257G	possibly damaging	Het
Tmem102	A	T	11: 69,804,196	F317I	probably damaging	Het
Trav10	A	G	14: 53,506,040	S33G	possibly damaging	Het
Ttn	T	A	2: 76,915,064	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,254,280	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,344,612	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,562,137	I631F	possibly damaging	Het
Zfp280d	T	A	9: 72,312,665	S241T	possibly damaging	Het
Zfp638	T	A	6: 83,979,562	L1717*	probably null	Het
Zfp719	A	G	7: 43,591,111	N708D	possibly 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
R3874:Adam8	UTSW	7	139987607	missense	probably damaging	1.00
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
R7987:Adam8	UTSW	7	139987678	missense	probably benign	0.17
R8024:Adam8	UTSW	7	139987576	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCTCATGAGTTAACTTGCAC -3'
(R):5'- TAGCACTCTATGTGGGGTATGC -3'

Sequencing Primer
(F):5'- CTAATGGGTCACACTCTGGG -3'
(R):5'- CTATGTGGGGTATGCCAGGGC -3'

Posted On

2015-10-21