Mutagenetix > Incidental Mutations

Incidental Mutation 'R5991:Adam8'

482013

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

044171-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5991 (G1)

Quality Score

209.009

Status

Validated

Chromosome

Chromosomal Location

139978932-139992562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139990287 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 69 (H69L)

Ref Sequence

ENSEMBL: ENSMUSP00000101684 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000026546
AA Change: H68L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: H68L

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: H69L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: H69L

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

possibly damaging
Transcript: ENSMUST00000148670
AA Change: H68L

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
AA Change: H68L

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

0.3837

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	G	A	8: 111,050,400	R683Q	probably damaging	Het
Bbs2	G	T	8: 94,098,286	R23S	probably benign	Het
Bod1l	A	T	5: 41,816,863	C2369*	probably null	Het
Capn11	G	T	17: 45,659,352		probably null	Het
Carmil2	A	G	8: 105,691,391	Q679R	probably null	Het
Cep120	T	C	18: 53,721,798	I422V	probably benign	Het
Cnot7	A	C	8: 40,495,655		probably null	Het
Col1a1	T	C	11: 94,937,919	V29A	unknown	Het
Dnttip1	A	T	2: 164,754,180	Q115L	possibly damaging	Het
Dyrk4	A	G	6: 126,880,225	V497A	probably benign	Het
Ep300	A	G	15: 81,648,466	D1635G	unknown	Het
Ercc5	T	A	1: 44,180,830	C1087*	probably null	Het
Fap	A	T	2: 62,518,521	M517K	probably damaging	Het
Focad	C	A	4: 88,401,019	D1574E	possibly damaging	Het
Fsip2	C	T	2: 82,990,468	P5515L	probably benign	Het
Gm9733	G	T	3: 15,320,758	A28E	probably benign	Het
Gpr158	T	C	2: 21,368,508	Y85H	probably damaging	Het
Hc	A	G	2: 35,006,105	V1222A	possibly damaging	Het
Hipk3	C	T	2: 104,437,983	M546I	probably damaging	Het
Jup	T	C	11: 100,379,569	N371D	possibly damaging	Het
Ltbp4	A	G	7: 27,309,316	Y1262H	probably damaging	Het
Lyar	A	G	5: 38,227,865	E83G	probably damaging	Het
Lyg2	C	T	1: 37,915,719		probably null	Het
Mtmr11	T	A	3: 96,168,589		probably null	Het
Myct1	A	T	10: 5,604,426	R98*	probably null	Het
Nol11	T	C	11: 107,171,145	T612A	probably benign	Het
Olfr1034	A	G	2: 86,046,910	I143V	probably benign	Het
Olfr1218	C	T	2: 89,054,782	V215I	probably benign	Het
Olfr1314	C	T	2: 112,092,615	V29M	probably benign	Het
Olfr167	T	C	16: 19,514,757	N293S	probably damaging	Het
Olfr32	T	A	2: 90,138,234	K302*	probably null	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Pcdhb3	T	C	18: 37,301,508	S176P	probably benign	Het
Pdcd1lg2	C	T	19: 29,454,467	R212W	probably benign	Het
Plin3	T	C	17: 56,286,576	Y46C	probably damaging	Het
Rfx7	G	A	9: 72,619,538	E1337K	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Ryr1	G	T	7: 29,104,610	N584K	probably damaging	Het
Scmh1	T	C	4: 120,522,620	V544A	probably benign	Het
Sdk2	G	A	11: 113,943,254	T34M	probably damaging	Het
Serpinb9e	T	A	13: 33,259,807	L270H	probably damaging	Het
Shoc2	T	A	19: 54,003,049	N248K	probably damaging	Het
Slc25a4	T	C	8: 46,209,336	Y95C	probably damaging	Het
Slc4a1ap	A	G	5: 31,534,069	N403S	possibly damaging	Het
Spink10	T	A	18: 62,657,885	W7R	probably null	Het
Ssrp1	A	G	2: 85,042,296	K426R	possibly damaging	Het
Tbc1d24	G	A	17: 24,209,069		probably benign	Het
Tead3	A	T	17: 28,334,378		probably null	Het
Timd4	A	G	11: 46,843,203	*344W	probably null	Het
Tmem181a	T	A	17: 6,289,037	W115R	probably damaging	Het
Tmem245	G	A	4: 56,916,733	T65I	probably damaging	Het
Vmn1r12	G	C	6: 57,159,655	V202L	probably damaging	Het
Vmn1r80	A	G	7: 12,193,496	T178A	probably benign	Het
Vps33b	T	A	7: 80,283,414		probably null	Het
Zmym6	T	A	4: 127,108,473		probably null	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
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
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'- AGGTCTCTGTGTAGCTTGAGCC -3'
(R):5'- TGCTTCACCTGGGAGAGTTG -3'

Sequencing Primer
(F):5'- TGTGTAGCTTGAGCCCAGCAG -3'
(R):5'- CACCTGGGAGAGTTGCTTTCC -3'

Posted On

2017-06-26