Mutagenetix > Incidental Mutations

Incidental Mutation 'R7098:Adam8'

550639

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139978932-139992562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139979499 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 820 (K820R)

Ref Sequence

ENSEMBL: ENSMUSP00000101684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026546] [ENSMUST00000097970] [ENSMUST00000106069] [ENSMUST00000121412] [ENSMUST00000148670] [ENSMUST00000209335] [ENSMUST00000210254]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026546
AA Change: K819R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: K819R

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: ENSMUST00000097970

SMART Domains

Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795

Domain	Start	End	E-Value	Type
Pfam:CH_2	22	118	3e-35	PFAM
Pfam:CAMSAP_CH	23	105	1.2e-21	PFAM
coiled coil region	237	276	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106069
AA Change: K820R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: K820R

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

probably benign
Transcript: ENSMUST00000121412

SMART Domains

Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795

Domain	Start	End	E-Value	Type
Pfam:DUF1042	22	153	4.5e-35	PFAM
Pfam:CAMSAP_CH	23	105	1.3e-20	PFAM
low complexity region	230	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148670

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473

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

probably benign
Transcript: ENSMUST00000209335

Predicted Effect

probably benign
Transcript: ENSMUST00000210254

Meta Mutation Damage Score

0.0925

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,646,522	M223K	probably benign	Het
Abce1	T	C	8: 79,686,049	T550A	probably benign	Het
Acoxl	C	T	2: 127,854,915	Q28*	probably null	Het
Adamts3	G	T	5: 89,861,495	A103D	probably damaging	Het
Apba2	T	A	7: 64,736,948	V441D	probably damaging	Het
Arap2	A	G	5: 62,675,950		probably null	Het
Arhgef10l	T	A	4: 140,580,911	M44L	probably benign	Het
Asb4	T	C	6: 5,398,499	C155R	probably damaging	Het
Bpifb6	A	T	2: 153,906,890	K269*	probably null	Het
Cc2d2a	A	T	5: 43,683,139	T161S	probably benign	Het
Ccdc15	T	A	9: 37,343,960	Q98L	probably damaging	Het
Col19a1	A	G	1: 24,526,474	S259P	unknown	Het
Col5a2	A	T	1: 45,380,067	D1284E	possibly damaging	Het
Cyp2c70	T	C	19: 40,180,487	T119A	probably benign	Het
Dennd6b	C	T	15: 89,188,687	C188Y	probably damaging	Het
Dhx8	T	A	11: 101,737,768		probably null	Het
Dhx9	T	C	1: 153,465,022	K624R	probably benign	Het
Dpys	C	T	15: 39,793,331	V447M	probably damaging	Het
E130308A19Rik	T	C	4: 59,753,004	S706P	possibly damaging	Het
Esrrb	A	G	12: 86,470,415	D107G	probably benign	Het
Fam71d	G	A	12: 78,719,634		probably null	Het
Frmd4a	T	C	2: 4,572,433	S367P	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm136	T	C	4: 34,746,628	I128V	probably benign	Het
Gm6525	T	A	3: 84,175,002	C77S	possibly damaging	Het
Grid2ip	T	C	5: 143,357,591	F14S	probably damaging	Het
Hdhd3	C	T	4: 62,499,915	R8H	probably damaging	Het
Kdelr1	C	A	7: 45,874,056	A69D	possibly damaging	Het
Krtap16-3	T	A	16: 88,962,672	Y51F	unknown	Het
Lrrc40	T	A	3: 158,041,639	N129K	probably benign	Het
Man1b1	T	A	2: 25,338,184	D155E	probably damaging	Het
Mcm5	T	C	8: 75,120,901	V442A	probably damaging	Het
Mfsd14a	C	T	3: 116,641,712	A235T	probably benign	Het
Mmp1a	C	A	9: 7,475,937	T401K	probably benign	Het
Mpig6b	C	T	17: 35,064,344	R196Q	unknown	Het
Mroh1	C	T	15: 76,408,457	Q262*	probably null	Het
Msh3	A	T	13: 92,274,111	D656E	possibly damaging	Het
Muc4	A	T	16: 32,757,091	T252S		Het
Myh15	C	T	16: 49,177,057	A1746V	possibly damaging	Het
Myh8	C	A	11: 67,279,053	T66K	probably benign	Het
Nemf	A	T	12: 69,312,467	Y999N	probably damaging	Het
Neurod1	T	C	2: 79,454,685	N118S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,274	I134L	possibly damaging	Het
Nsun7	A	T	5: 66,260,983	I19F	probably damaging	Het
Ofcc1	A	G	13: 40,003,966		probably null	Het
P2rx7	A	G	5: 122,673,793	E389G	probably damaging	Het
Pam	C	T	1: 97,898,347	R194H	probably benign	Het
Pcnt	A	G	10: 76,384,839	S2052P	probably benign	Het
Pfkfb4	T	A	9: 108,999,154	Y86N	probably benign	Het
Plcd3	T	A	11: 103,077,863	D334V	probably damaging	Het
Ppard	T	C	17: 28,298,813	V285A	possibly damaging	Het
Prune2	A	G	19: 17,120,602	S1157G	probably benign	Het
Psg21	A	T	7: 18,652,545	L172H	probably damaging	Het
Psme4	C	A	11: 30,850,661	T1417K	probably damaging	Het
Ptprc	T	C	1: 138,099,685	D336G	probably benign	Het
Ralgapa1	A	T	12: 55,790,310		probably null	Het
Rap1gap	C	A	4: 137,716,082		probably null	Het
Scap	T	C	9: 110,372,242	S100P	possibly damaging	Het
Scpep1	T	C	11: 88,929,185	I426V	possibly damaging	Het
Sdk1	T	C	5: 142,096,870	I1341T	probably damaging	Het
Sfmbt2	T	A	2: 10,579,189	Y786N	probably benign	Het
Sh3tc1	A	T	5: 35,702,014		probably null	Het
Slc5a5	T	A	8: 70,888,538	I386F	probably damaging	Het
Smarca4	T	G	9: 21,634,820	M98R	probably benign	Het
St18	G	A	1: 6,827,842	D623N	probably damaging	Het
Sult2a1	A	T	7: 13,816,053		probably null	Het
Tgfb2	C	T	1: 186,630,637	R330H	probably damaging	Het
Thoc3	A	G	13: 54,466,306	I168T	probably damaging	Het
Tmem126a	C	T	7: 90,450,854	M160I	possibly damaging	Het
Tmem200b	C	T	4: 131,922,393	P208L	probably benign	Het
Tnrc6c	T	C	11: 117,714,126	V29A	probably benign	Het
Tsc1	C	T	2: 28,675,732	S465F	probably benign	Het
Ttll5	A	G	12: 85,917,673		probably null	Het
Unc13d	G	T	11: 116,063,726	L1019I	probably damaging	Het
Vmn2r102	A	T	17: 19,694,408	H745L	probably damaging	Het
Wars2	T	G	3: 99,216,641	S273A	probably damaging	Het
Xrcc6	C	A	15: 82,035,754	S498*	probably null	Het
Ybx1	A	T	4: 119,282,853	N92K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TATGGTCTAAGCTGGCCAAGG -3'
(R):5'- ACAGTCATCTTGTGAGGTCGG -3'

Sequencing Primer
(F):5'- TTCATGAGGGCATCTGGACAGC -3'
(R):5'- TGAGGTCGGGCCCATTCTG -3'

Posted On

2019-05-15