Mutagenetix > Incidental Mutation

Incidental Mutation 'R7098:Adam8'

550639

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

045190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139558845-139572475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139559412 bp (GRCm39)

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]

AlphaFold

Q05910

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: 138,644,784 (GRCm39)	M223K	probably benign	Het
Abce1	T	C	8: 80,412,678 (GRCm39)	T550A	probably benign	Het
Acoxl	C	T	2: 127,696,835 (GRCm39)	Q28*	probably null	Het
Adamts3	G	T	5: 90,009,354 (GRCm39)	A103D	probably damaging	Het
Apba2	T	A	7: 64,386,696 (GRCm39)	V441D	probably damaging	Het
Arap2	A	G	5: 62,833,293 (GRCm39)		probably null	Het
Arhgef10l	T	A	4: 140,308,222 (GRCm39)	M44L	probably benign	Het
Asb4	T	C	6: 5,398,499 (GRCm39)	C155R	probably damaging	Het
Bpifb6	A	T	2: 153,748,810 (GRCm39)	K269*	probably null	Het
Cc2d2a	A	T	5: 43,840,481 (GRCm39)	T161S	probably benign	Het
Ccdc15	T	A	9: 37,255,256 (GRCm39)	Q98L	probably damaging	Het
Col19a1	A	G	1: 24,565,555 (GRCm39)	S259P	unknown	Het
Col5a2	A	T	1: 45,419,227 (GRCm39)	D1284E	possibly damaging	Het
Cyp2c70	T	C	19: 40,168,931 (GRCm39)	T119A	probably benign	Het
Dennd6b	C	T	15: 89,072,890 (GRCm39)	C188Y	probably damaging	Het
Dhx8	T	A	11: 101,628,594 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,340,768 (GRCm39)	K624R	probably benign	Het
Dpys	C	T	15: 39,656,727 (GRCm39)	V447M	probably damaging	Het
E130308A19Rik	T	C	4: 59,753,004 (GRCm39)	S706P	possibly damaging	Het
Esrrb	A	G	12: 86,517,189 (GRCm39)	D107G	probably benign	Het
Frmd4a	T	C	2: 4,577,244 (GRCm39)	S367P	probably damaging	Het
Garin2	G	A	12: 78,766,408 (GRCm39)		probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm136	T	C	4: 34,746,628 (GRCm39)	I128V	probably benign	Het
Gm6525	T	A	3: 84,082,309 (GRCm39)	C77S	possibly damaging	Het
Grid2ip	T	C	5: 143,343,346 (GRCm39)	F14S	probably damaging	Het
Hdhd3	C	T	4: 62,418,152 (GRCm39)	R8H	probably damaging	Het
Kdelr1	C	A	7: 45,523,480 (GRCm39)	A69D	possibly damaging	Het
Krtap16-3	T	A	16: 88,759,560 (GRCm39)	Y51F	unknown	Het
Lrrc40	T	A	3: 157,747,276 (GRCm39)	N129K	probably benign	Het
Man1b1	T	A	2: 25,228,196 (GRCm39)	D155E	probably damaging	Het
Mcm5	T	C	8: 75,847,529 (GRCm39)	V442A	probably damaging	Het
Mfsd14a	C	T	3: 116,435,361 (GRCm39)	A235T	probably benign	Het
Mmp1a	C	A	9: 7,475,938 (GRCm39)	T401K	probably benign	Het
Mpig6b	C	T	17: 35,283,320 (GRCm39)	R196Q	unknown	Het
Mroh1	C	T	15: 76,292,657 (GRCm39)	Q262*	probably null	Het
Msh3	A	T	13: 92,410,619 (GRCm39)	D656E	possibly damaging	Het
Muc4	A	T	16: 32,577,465 (GRCm39)	T252S		Het
Myh15	C	T	16: 48,997,420 (GRCm39)	A1746V	possibly damaging	Het
Myh8	C	A	11: 67,169,879 (GRCm39)	T66K	probably benign	Het
Nemf	A	T	12: 69,359,241 (GRCm39)	Y999N	probably damaging	Het
Neurod1	T	C	2: 79,285,029 (GRCm39)	N118S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,100 (GRCm39)	I134L	possibly damaging	Het
Nsun7	A	T	5: 66,418,326 (GRCm39)	I19F	probably damaging	Het
Ofcc1	A	G	13: 40,157,442 (GRCm39)		probably null	Het
P2rx7	A	G	5: 122,811,856 (GRCm39)	E389G	probably damaging	Het
Pam	C	T	1: 97,826,072 (GRCm39)	R194H	probably benign	Het
Pcnt	A	G	10: 76,220,673 (GRCm39)	S2052P	probably benign	Het
Pfkfb4	T	A	9: 108,828,222 (GRCm39)	Y86N	probably benign	Het
Plcd3	T	A	11: 102,968,689 (GRCm39)	D334V	probably damaging	Het
Ppard	T	C	17: 28,517,787 (GRCm39)	V285A	possibly damaging	Het
Prune2	A	G	19: 17,097,966 (GRCm39)	S1157G	probably benign	Het
Psg21	A	T	7: 18,386,470 (GRCm39)	L172H	probably damaging	Het
Psme4	C	A	11: 30,800,661 (GRCm39)	T1417K	probably damaging	Het
Ptprc	T	C	1: 138,027,423 (GRCm39)	D336G	probably benign	Het
Ralgapa1	A	T	12: 55,837,095 (GRCm39)		probably null	Het
Rap1gap	C	A	4: 137,443,393 (GRCm39)		probably null	Het
Scap	T	C	9: 110,201,310 (GRCm39)	S100P	possibly damaging	Het
Scpep1	T	C	11: 88,820,011 (GRCm39)	I426V	possibly damaging	Het
Sdk1	T	C	5: 142,082,625 (GRCm39)	I1341T	probably damaging	Het
Sfmbt2	T	A	2: 10,584,000 (GRCm39)	Y786N	probably benign	Het
Sh3tc1	A	T	5: 35,859,358 (GRCm39)		probably null	Het
Slc5a5	T	A	8: 71,341,182 (GRCm39)	I386F	probably damaging	Het
Smarca4	T	G	9: 21,546,116 (GRCm39)	M98R	probably benign	Het
St18	G	A	1: 6,898,066 (GRCm39)	D623N	probably damaging	Het
Sult2a1	A	T	7: 13,549,978 (GRCm39)		probably null	Het
Tgfb2	C	T	1: 186,362,834 (GRCm39)	R330H	probably damaging	Het
Thoc3	A	G	13: 54,614,119 (GRCm39)	I168T	probably damaging	Het
Tmem126a	C	T	7: 90,100,062 (GRCm39)	M160I	possibly damaging	Het
Tmem200b	C	T	4: 131,649,704 (GRCm39)	P208L	probably benign	Het
Tnrc6c	T	C	11: 117,604,952 (GRCm39)	V29A	probably benign	Het
Tsc1	C	T	2: 28,565,744 (GRCm39)	S465F	probably benign	Het
Ttll5	A	G	12: 85,964,447 (GRCm39)		probably null	Het
Unc13d	G	T	11: 115,954,552 (GRCm39)	L1019I	probably damaging	Het
Vmn2r102	A	T	17: 19,914,670 (GRCm39)	H745L	probably damaging	Het
Wars2	T	G	3: 99,123,957 (GRCm39)	S273A	probably damaging	Het
Xrcc6	C	A	15: 81,919,955 (GRCm39)	S498*	probably null	Het
Ybx1	A	T	4: 119,140,050 (GRCm39)	N92K	possibly 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
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
R9566:Adam8	UTSW	7	139,565,285 (GRCm39)	missense	probably benign

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