Mutagenetix > Incidental Mutations

Incidental Mutation 'R4866:Adam5'

374915

Institutional Source

Beutler Lab

Gene Symbol

Adam5

Ensembl Gene

ENSMUSG00000031554

Gene Name

a disintegrin and metallopeptidase domain 5

Synonyms

tMDCII

MMRRC Submission

042476-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4866 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24727093-24824369 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24781603 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 596 (T596I)

Ref Sequence

ENSEMBL: ENSMUSP00000147290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050300] [ENSMUST00000118419] [ENSMUST00000209935]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050300
AA Change: T596I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: T596I

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Pep_M12B_propep	16	142	1.6e-19	PFAM
Pfam:Reprolysin	185	378	7.7e-59	PFAM
DISIN	397	474	9.1e-42	SMART
ACR	475	618	6.9e-58	SMART
transmembrane domain	695	712	N/A	INTRINSIC
low complexity region	718	751	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118419
AA Change: T596I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: T596I

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Pep_M12B_propep	16	142	4.7e-30	PFAM
Pfam:Reprolysin	185	378	7.9e-56	PFAM
DISIN	397	474	1.78e-39	SMART
ACR	475	618	2.06e-55	SMART
transmembrane domain	695	712	N/A	INTRINSIC
low complexity region	718	750	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130939

Predicted Effect

unknown
Transcript: ENSMUST00000132180
AA Change: T513I

SMART Domains

Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: T513I

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	1	60	6.7e-14	PFAM
Pfam:Reprolysin	103	296	2.5e-61	PFAM
DISIN	315	392	1.78e-39	SMART
ACR	393	536	2.06e-55	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000209935
AA Change: T596I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	T	A	10: 77,981,579		probably null	Het
Abca3	C	T	17: 24,374,300	R224C	probably damaging	Het
Abcc5	A	T	16: 20,422,432	M1K	probably null	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Apoa2	T	C	1: 171,225,800		probably null	Het
Arhgap8	A	G	15: 84,741,904	Y60C	probably damaging	Het
Atad1	A	T	19: 32,702,564	H79Q	probably benign	Het
Atp8a2	T	C	14: 59,691,467	D1046G	probably damaging	Het
Bcam	A	G	7: 19,765,472	Y209H	probably benign	Het
Brpf1	G	A	6: 113,322,470	V1120I	probably damaging	Het
Catsperb	G	A	12: 101,507,949	C302Y	probably damaging	Het
Cbl	A	G	9: 44,152,869	V790A	probably benign	Het
Ccdc60	T	C	5: 116,172,490	D171G	probably damaging	Het
Cd300c2	A	T	11: 115,000,981	C22*	probably null	Het
Cdan1	C	A	2: 120,731,447		probably benign	Het
Cdk5rap1	C	T	2: 154,370,956		probably null	Het
Cfap65	T	C	1: 74,925,557	D479G	probably damaging	Het
Cmbl	A	G	15: 31,585,344	K113E	probably benign	Het
Cog6	G	A	3: 53,010,598	T173I	probably benign	Het
Cts6	T	A	13: 61,202,276		probably null	Het
Cyp11a1	G	A	9: 58,026,097	V413M	probably damaging	Het
Cyp2c39	G	A	19: 39,513,576	M136I	probably benign	Het
Dclre1b	A	T	3: 103,808,096	Y29N	probably damaging	Het
Depdc1a	T	A	3: 159,516,127	I236K	probably damaging	Het
Dhx36	A	T	3: 62,472,777	Y833N	probably damaging	Het
Dopey2	G	T	16: 93,763,430		probably null	Het
Elovl3	A	G	19: 46,132,164	E32G	possibly damaging	Het
Epcam	T	C	17: 87,643,621	V212A	possibly damaging	Het
Fam189a2	A	G	19: 23,975,426	S507P	possibly damaging	Het
Fcrls	A	T	3: 87,263,466	C4S	possibly damaging	Het
Galnt16	T	C	12: 80,584,077	Y310H	probably damaging	Het
Gm12789	G	A	4: 101,988,985		probably benign	Het
Gspt1	C	T	16: 11,222,665	R593H	possibly damaging	Het
Hmcn2	A	T	2: 31,389,391	T1802S	possibly damaging	Het
Igha	A	G	12: 113,259,509	V166A	probably benign	Het
Itfg2	A	G	6: 128,416,316		probably benign	Het
Jund	T	C	8: 70,699,605	V183A	probably damaging	Het
Katnb1	T	C	8: 95,097,504	S471P	possibly damaging	Het
Kazn	A	G	4: 142,104,905	F661S	unknown	Het
Kif19a	G	A	11: 114,767,227	M37I	probably benign	Het
Lgr5	C	T	10: 115,452,685	V661I	probably benign	Het
Lvrn	G	T	18: 46,893,701	A789S	probably damaging	Het
Mapk10	T	C	5: 102,963,525	D351G	probably damaging	Het
Mga	T	A	2: 119,964,054	C2622S	possibly damaging	Het
Mios	T	G	6: 8,214,857	F18V	probably damaging	Het
Mllt6	A	G	11: 97,674,459	D575G	probably damaging	Het
Mmp10	G	A	9: 7,508,189	V439M	probably damaging	Het
Myh4	A	G	11: 67,248,627	D590G	probably benign	Het
Ndufs2	C	T	1: 171,247,049	G14R	probably benign	Het
Olfr286	T	A	15: 98,227,490	I52F	probably damaging	Het
Olfr576	A	T	7: 102,965,720	M207L	probably benign	Het
Olfr684	T	C	7: 105,157,307	Y125C	possibly damaging	Het
Olfr943	A	G	9: 39,185,071	K298E	probably damaging	Het
Plau	G	T	14: 20,837,804	V39L	probably benign	Het
Ppp3cb	A	G	14: 20,523,843	C275R	probably damaging	Het
Ppp4r4	T	G	12: 103,600,447	M51R	possibly damaging	Het
Ptprt	T	C	2: 161,560,239	D1023G	probably damaging	Het
Raly	T	A	2: 154,861,896	V129E	probably damaging	Het
Rsph10b	A	G	5: 143,948,529	E249G	probably benign	Het
Sart1	A	C	19: 5,382,220	L577W	probably damaging	Het
Senp1	T	C	15: 98,066,848	E189G	possibly damaging	Het
Slc22a2	G	T	17: 12,584,429	C50F	probably damaging	Het
Spem1	A	T	11: 69,820,929	V303E	probably damaging	Het
Tgfb3	A	G	12: 86,077,814	V40A	possibly damaging	Het
Ttl	T	C	2: 129,081,227	S163P	probably damaging	Het
Ttll9	C	A	2: 153,003,000	N429K	probably benign	Het
Uggt1	G	A	1: 36,202,855	R333*	probably null	Het
Zfhx2	A	G	14: 55,065,536	S1664P	possibly damaging	Het
Zfp51	T	A	17: 21,461,750	D70E	possibly damaging	Het
Zfp592	T	A	7: 81,041,859	V1262E	probably damaging	Het
Zfp595	C	A	13: 67,317,696	G168C	probably damaging	Het
Zswim9	A	T	7: 13,261,169	S354T	probably damaging	Het

Other mutations in Adam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Adam5	APN	8	24818742	missense	probably benign	0.18
IGL01285:Adam5	APN	8	24781594	missense	probably benign	0.02
IGL01310:Adam5	APN	8	24742134	intron	probably benign
IGL01510:Adam5	APN	8	24804465	missense	probably damaging	1.00
IGL01570:Adam5	APN	8	24810823	missense	probably damaging	1.00
IGL02017:Adam5	APN	8	24781759	missense	probably benign	0.38
IGL02191:Adam5	APN	8	24812423	nonsense	probably null
IGL02397:Adam5	APN	8	24744133	intron	probably benign
IGL02488:Adam5	APN	8	24792006	missense	probably damaging	0.98
IGL02490:Adam5	APN	8	24781704	nonsense	probably null
IGL02499:Adam5	APN	8	24781565	critical splice donor site	probably null
IGL02539:Adam5	APN	8	24786213	nonsense	probably null
IGL02590:Adam5	APN	8	24744135	intron	probably benign
IGL02677:Adam5	APN	8	24812379	splice site	probably benign
IGL02679:Adam5	APN	8	24806526	missense	probably damaging	1.00
IGL02982:Adam5	APN	8	24804431	missense	probably benign	0.02
IGL03146:Adam5	APN	8	24804503	missense	probably damaging	0.98
IGL03162:Adam5	APN	8	24781604	missense	probably benign	0.30
IGL03284:Adam5	APN	8	24786338	splice site	probably benign
R0081:Adam5	UTSW	8	24781687	missense	probably damaging	1.00
R0377:Adam5	UTSW	8	24747541	missense	probably benign	0.08
R0398:Adam5	UTSW	8	24813432	missense	probably benign	0.17
R0771:Adam5	UTSW	8	24786299	missense	probably benign	0.04
R0925:Adam5	UTSW	8	24812425	missense	probably benign	0.09
R1547:Adam5	UTSW	8	24810713	missense	probably benign	0.10
R1985:Adam5	UTSW	8	24746739	missense	probably benign	0.01
R2115:Adam5	UTSW	8	24744145	intron	probably benign
R2125:Adam5	UTSW	8	24815118	missense	probably damaging	1.00
R2144:Adam5	UTSW	8	24815480	missense	probably benign	0.14
R3151:Adam5	UTSW	8	24781631	missense	probably damaging	0.99
R3612:Adam5	UTSW	8	24818089	splice site	probably benign
R3844:Adam5	UTSW	8	24813410	missense	probably benign	0.12
R3873:Adam5	UTSW	8	24815109	missense	probably benign	0.02
R4514:Adam5	UTSW	8	24818136	missense	probably damaging	1.00
R4843:Adam5	UTSW	8	24813536	missense	probably damaging	1.00
R4866:Adam5	UTSW	8	24742156	splice site	probably null
R4900:Adam5	UTSW	8	24742156	splice site	probably null
R4900:Adam5	UTSW	8	24781603	missense	probably damaging	0.98
R4903:Adam5	UTSW	8	24786232	missense	probably damaging	1.00
R4936:Adam5	UTSW	8	24786271	missense	probably damaging	1.00
R4964:Adam5	UTSW	8	24786232	missense	probably damaging	1.00
R5259:Adam5	UTSW	8	24810834	missense	possibly damaging	0.90
R5293:Adam5	UTSW	8	24810706	missense	possibly damaging	0.46
R5724:Adam5	UTSW	8	24804495	nonsense	probably null
R5859:Adam5	UTSW	8	24813461	missense	probably benign
R6004:Adam5	UTSW	8	24781669	missense	probably benign	0.04
R6175:Adam5	UTSW	8	24786151	missense	probably benign	0.00
R6539:Adam5	UTSW	8	24782600	missense	possibly damaging	0.85
R6994:Adam5	UTSW	8	24786246	nonsense	probably null
R6996:Adam5	UTSW	8	24806501	missense	probably damaging	1.00
R7009:Adam5	UTSW	8	24806438	missense	probably benign	0.00
R7115:Adam5	UTSW	8	24781696	missense	possibly damaging	0.69
R7127:Adam5	UTSW	8	24810781	missense	probably damaging	1.00
R7469:Adam5	UTSW	8	24815525	missense	probably benign	0.45
R7780:Adam5	UTSW	8	24804416	missense	possibly damaging	0.49
X0019:Adam5	UTSW	8	24812443	missense	probably benign	0.00
X0022:Adam5	UTSW	8	24813563	critical splice acceptor site	probably null
X0027:Adam5	UTSW	8	24818772	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTTACACTGCAGAGGTG -3'
(R):5'- CTGTGGGAAACTAATCTGTACGTG -3'

Sequencing Primer
(F):5'- CCACTAAAATACTCAGCTCTAGGTG -3'
(R):5'- TCTGTACGTGGCCATTCAAGAAG -3'

Posted On

2016-03-17