Mutagenetix > Incidental Mutation

Incidental Mutation 'R9566:Adam8'

721601

Institutional Source

Beutler Lab

Gene Symbol

Adam8

Ensembl Gene

ENSMUSG00000025473

Gene Name

a disintegrin and metallopeptidase domain 8

Synonyms

E430039A18Rik, CD156a, CD156, MS2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9566 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139558845-139572475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139565285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 643 (V643A)

Ref Sequence

ENSEMBL: ENSMUSP00000101684 (fasta)

Gene Model

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

AlphaFold

Q05910

Predicted Effect

probably benign
Transcript: ENSMUST00000026546
AA Change: V642A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: V642A

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: V643A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: V643A

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

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
AA Change: V648A

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,314,226 (GRCm39)	T484I	probably benign	Het
4930568D16Rik	C	A	2: 35,244,645 (GRCm39)	E236*	probably null	Het
Abca13	C	A	11: 9,414,927 (GRCm39)	T3998K	probably damaging	Het
Adamtsl2	T	C	2: 26,979,773 (GRCm39)		probably null	Het
Akr1c18	A	T	13: 4,195,203 (GRCm39)		probably null	Het
Atf7ip2	C	T	16: 10,044,893 (GRCm39)	S222L	probably benign	Het
Atp2c1	A	T	9: 105,343,828 (GRCm39)	I127N	probably damaging	Het
Bcl11b	A	G	12: 107,881,784 (GRCm39)	Y844H	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Btnl4	A	G	17: 34,688,263 (GRCm39)	I505T	probably benign	Het
Cacna1b	G	A	2: 24,498,092 (GRCm39)	Q2024*	probably null	Het
Cars1	A	G	7: 143,113,384 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,193,026 (GRCm39)	K49E	probably benign	Het
Ccnk	A	G	12: 108,152,695 (GRCm39)	N4S	probably benign	Het
Cfap91	A	G	16: 38,155,996 (GRCm39)	F76L	probably damaging	Het
Clasp1	A	G	1: 118,479,801 (GRCm39)	D1027G	probably benign	Het
Copb1	A	T	7: 113,825,997 (GRCm39)	N662K	probably benign	Het
Cox8b	C	T	7: 140,478,926 (GRCm39)	S63N	probably benign	Het
Cpa4	C	A	6: 30,579,608 (GRCm39)	D138E	probably benign	Het
Dcc	A	G	18: 71,943,866 (GRCm39)	C262R	possibly damaging	Het
Dennd5a	C	T	7: 109,533,254 (GRCm39)	G172E	probably benign	Het
Dgke	C	T	11: 88,932,273 (GRCm39)		probably null	Het
Dnah11	A	G	12: 117,938,728 (GRCm39)	Y3247H	possibly damaging	Het
Dnajc21	T	G	15: 10,464,019 (GRCm39)	I49L	possibly damaging	Het
Dnm1	A	G	2: 32,228,011 (GRCm39)		probably null	Het
Ecd	A	T	14: 20,393,368 (GRCm39)	Y93*	probably null	Het
Epm2aip1	T	C	9: 111,101,807 (GRCm39)	L260P	probably damaging	Het
Eqtn	G	A	4: 94,813,185 (GRCm39)	P134S	probably damaging	Het
Ercc1	T	A	7: 19,088,377 (GRCm39)	C243*	probably null	Het
Fbln2	C	A	6: 91,231,513 (GRCm39)	H537N	probably benign	Het
Ffar2	A	G	7: 30,518,847 (GRCm39)	F231S	probably damaging	Het
Fhod1	G	A	8: 106,064,516 (GRCm39)	A172V	unknown	Het
Gbp8	C	T	5: 105,198,799 (GRCm39)	V39M	probably damaging	Het
Gm5773	T	C	3: 93,680,742 (GRCm39)	L138P	probably damaging	Het
Gtf2ird2	A	G	5: 134,246,256 (GRCm39)	E838G	probably damaging	Het
Gucy2e	C	A	11: 69,118,947 (GRCm39)	V682L	probably damaging	Het
Hmcn1	T	G	1: 150,498,660 (GRCm39)	N4073T	probably benign	Het
Il22b	A	T	10: 118,130,860 (GRCm39)	L12H	probably damaging	Het
Ist1	A	T	8: 110,408,816 (GRCm39)	S94T	probably benign	Het
Klhl24	A	T	16: 19,934,669 (GRCm39)	N381Y	probably damaging	Het
Krtap24-1	C	T	16: 88,408,886 (GRCm39)	C80Y		Het
Lcp2	T	A	11: 34,000,944 (GRCm39)	D42E		Het
Map1s	G	A	8: 71,365,580 (GRCm39)	A162T	probably benign	Het
Mbd5	T	G	2: 49,169,521 (GRCm39)	V1564G	probably damaging	Het
Mettl15	A	T	2: 108,923,592 (GRCm39)	S277T	possibly damaging	Het
Mfsd12	C	G	10: 81,196,962 (GRCm39)	T177S	probably benign	Het
Mlxipl	A	G	5: 135,152,616 (GRCm39)	D244G	possibly damaging	Het
Mutyh	G	A	4: 116,673,780 (GRCm39)	V164M	probably damaging	Het
Mypop	A	G	7: 18,726,534 (GRCm39)	D167G	probably benign	Het
Nbeal2	C	T	9: 110,457,989 (GRCm39)	V2169M	probably benign	Het
Nifk	G	T	1: 118,260,492 (GRCm39)	V259F	probably damaging	Het
Oasl1	A	G	5: 115,066,331 (GRCm39)	T150A	probably benign	Het
Obox6	G	A	7: 15,568,352 (GRCm39)	R175C		Het
Or2y11	T	C	11: 49,443,162 (GRCm39)	V196A	probably benign	Het
Or5p52	T	A	7: 107,502,409 (GRCm39)	C162S	possibly damaging	Het
Or5p69	A	T	7: 107,966,783 (GRCm39)	I29F	probably benign	Het
Per3	A	G	4: 151,113,335 (GRCm39)	F331S		Het
Pitrm1	A	G	13: 6,613,452 (GRCm39)	D508G	probably benign	Het
Plec	T	A	15: 76,062,790 (GRCm39)	I2427F	possibly damaging	Het
Prkd3	A	T	17: 79,292,652 (GRCm39)	V140D	probably damaging	Het
Prpf3	G	A	3: 95,760,800 (GRCm39)	A34V	probably damaging	Het
Ptar1	A	G	19: 23,686,206 (GRCm39)	T173A	probably benign	Het
Resf1	A	G	6: 149,227,352 (GRCm39)	N133D	possibly damaging	Het
Rest	G	T	5: 77,416,277 (GRCm39)	E164*	probably null	Het
Rnpepl1	A	C	1: 92,847,468 (GRCm39)	D685A		Het
Sc5d	T	C	9: 42,170,008 (GRCm39)	N71S	probably damaging	Het
Serpinb3c	A	T	1: 107,200,425 (GRCm39)	S239R	probably damaging	Het
Slc28a3	C	T	13: 58,758,653 (GRCm39)		probably benign	Het
Smagp	T	C	15: 100,519,844 (GRCm39)	Y60C	probably damaging	Het
Spink10	T	A	18: 62,790,939 (GRCm39)	M75K	probably benign	Het
Spryd7	T	C	14: 61,777,639 (GRCm39)	N147S	probably benign	Het
Steap4	A	G	5: 8,025,646 (GRCm39)	E69G	possibly damaging	Het
Svil	C	A	18: 5,099,661 (GRCm39)	H1732Q	probably damaging	Het
Tgoln1	T	C	6: 72,592,911 (GRCm39)	T190A	probably benign	Het
Tmem63c	C	T	12: 87,108,305 (GRCm39)	S106F	possibly damaging	Het
Trpv5	T	C	6: 41,637,456 (GRCm39)	D375G	probably null	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ugt2b38	A	G	5: 87,558,209 (GRCm39)	L484P	probably damaging	Het
Uox	A	T	3: 146,330,308 (GRCm39)	T179S	possibly damaging	Het
Usp34	A	G	11: 23,317,529 (GRCm39)	I882V		Het
Vmn2r124	A	G	17: 18,293,581 (GRCm39)	K556R	probably benign	Het
Vmn2r57	A	G	7: 41,077,089 (GRCm39)	F359S	probably benign	Het
Wasf2	T	C	4: 132,921,766 (GRCm39)	V295A	unknown	Het
Znhit1	G	A	5: 137,015,785 (GRCm39)		probably benign	Het
Zscan22	C	T	7: 12,640,866 (GRCm39)	T370M	probably damaging	Het

Other mutations in Adam8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Adam8	APN	7	139,567,158 (GRCm39)	missense	probably damaging	1.00
IGL02044:Adam8	APN	7	139,562,735 (GRCm39)	missense	possibly damaging	0.85
IGL02228:Adam8	APN	7	139,568,719 (GRCm39)	splice site	probably null
IGL02257:Adam8	APN	7	139,567,561 (GRCm39)	missense	possibly damaging	0.88
IGL03101:Adam8	APN	7	139,568,456 (GRCm39)	missense	possibly damaging	0.56
R0320:Adam8	UTSW	7	139,566,355 (GRCm39)	missense	probably damaging	1.00
R0384:Adam8	UTSW	7	139,566,725 (GRCm39)	unclassified	probably benign
R1169:Adam8	UTSW	7	139,563,842 (GRCm39)	missense	probably benign	0.11
R1340:Adam8	UTSW	7	139,571,290 (GRCm39)	missense	probably damaging	0.99
R1699:Adam8	UTSW	7	139,563,224 (GRCm39)	missense	possibly damaging	0.72
R3725:Adam8	UTSW	7	139,563,781 (GRCm39)	missense	possibly damaging	0.63
R3874:Adam8	UTSW	7	139,567,520 (GRCm39)	missense	probably damaging	1.00
R4716:Adam8	UTSW	7	139,563,851 (GRCm39)	missense	probably benign	0.31
R4754:Adam8	UTSW	7	139,564,693 (GRCm39)	missense	possibly damaging	0.87
R4907:Adam8	UTSW	7	139,569,286 (GRCm39)	missense	probably benign	0.03
R5345:Adam8	UTSW	7	139,567,552 (GRCm39)	missense	probably benign	0.03
R5579:Adam8	UTSW	7	139,568,897 (GRCm39)	missense	probably benign	0.03
R5696:Adam8	UTSW	7	139,569,159 (GRCm39)	missense	probably benign	0.03
R5805:Adam8	UTSW	7	139,565,794 (GRCm39)	missense	probably damaging	1.00
R5948:Adam8	UTSW	7	139,567,797 (GRCm39)	missense	probably benign	0.07
R5991:Adam8	UTSW	7	139,570,200 (GRCm39)	missense	probably damaging	1.00
R6280:Adam8	UTSW	7	139,564,720 (GRCm39)	missense	probably damaging	0.99
R6456:Adam8	UTSW	7	139,566,701 (GRCm39)	missense	possibly damaging	0.96
R7098:Adam8	UTSW	7	139,559,412 (GRCm39)	missense	possibly damaging	0.53
R7105:Adam8	UTSW	7	139,569,968 (GRCm39)	missense	probably benign	0.00
R7334:Adam8	UTSW	7	139,568,903 (GRCm39)	missense	probably damaging	1.00
R7342:Adam8	UTSW	7	139,566,304 (GRCm39)	missense	probably benign	0.00
R7382:Adam8	UTSW	7	139,570,020 (GRCm39)	missense	possibly damaging	0.74
R7425:Adam8	UTSW	7	139,572,394 (GRCm39)	unclassified	probably benign
R7507:Adam8	UTSW	7	139,567,091 (GRCm39)	critical splice donor site	probably null
R7637:Adam8	UTSW	7	139,565,343 (GRCm39)	missense	probably damaging	0.98
R7904:Adam8	UTSW	7	139,567,591 (GRCm39)	missense	probably benign	0.17
R8024:Adam8	UTSW	7	139,567,489 (GRCm39)	missense	probably damaging	1.00
R8176:Adam8	UTSW	7	139,568,786 (GRCm39)	missense	probably benign	0.03
R8438:Adam8	UTSW	7	139,565,249 (GRCm39)	critical splice donor site	probably null
R8439:Adam8	UTSW	7	139,567,762 (GRCm39)	missense	probably benign	0.25
R9077:Adam8	UTSW	7	139,567,552 (GRCm39)	missense	probably benign	0.03
R9312:Adam8	UTSW	7	139,565,791 (GRCm39)	missense	probably damaging	1.00
R9346:Adam8	UTSW	7	139,567,634 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGTAAGTGGCCCTAGATGC -3'
(R):5'- CTAGTCAGTGTGCTCATTCGG -3'

Sequencing Primer
(F):5'- CCTGGGCCAAGGCTATGTAG -3'
(R):5'- CTCAAGATTGACATATGTGGATGG -3'

Posted On

2022-08-09