Mutagenetix > Incidental Mutations

Incidental Mutation 'R0081:Adam5'

19683

Institutional Source

Beutler Lab

Gene Symbol

Adam5

Ensembl Gene

ENSMUSG00000031554

Gene Name

a disintegrin and metallopeptidase domain 5

Synonyms

tMDCII

MMRRC Submission

038368-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24727093-24824369 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24781687 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 485 (D485G)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050300
AA Change: D568G

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: D568G

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

possibly damaging
Transcript: ENSMUST00000118419
AA Change: D568G

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: D568G

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

probably damaging
Transcript: ENSMUST00000132180
AA Change: D485G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: D485G

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

possibly damaging
Transcript: ENSMUST00000209935
AA Change: D568G

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 97.2%
10x: 88.5%
20x: 63.6%

Validation Efficiency

94% (159/169)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	C	18: 58,903,065		probably null	Het
Adgrd1	A	T	5: 129,178,082	I598F	probably damaging	Het
Adh5	A	G	3: 138,451,413	D245G	probably benign	Het
Adra2b	T	C	2: 127,364,292	V238A	probably benign	Het
Ank1	G	A	8: 23,116,242	V1188I	possibly damaging	Het
Asap1	C	T	15: 64,099,564	G905D	probably damaging	Het
AW554918	T	C	18: 25,344,902	V428A	probably benign	Het
Birc6	T	A	17: 74,643,441	S3226T	probably benign	Het
Cdh17	A	T	4: 11,785,280		probably benign	Het
Cyfip2	A	T	11: 46,253,998	Y676*	probably null	Het
Dcaf17	T	A	2: 71,078,468		probably benign	Het
Dclre1a	A	G	19: 56,542,707	F736L	probably damaging	Het
Ddx41	A	T	13: 55,535,380	H171Q	possibly damaging	Het
Dennd5b	G	T	6: 148,993,759	Q1258K	probably benign	Het
Dock10	T	C	1: 80,606,578	D137G	probably damaging	Het
Dpyd	G	A	3: 118,944,255	V482I	probably benign	Het
Erich6	A	T	3: 58,636,126		probably benign	Het
Fam193b	A	G	13: 55,554,211		probably benign	Het
Foxp2	T	C	6: 15,405,644		probably benign	Het
Frmd4a	T	C	2: 4,572,441		probably null	Het
Gas2l2	A	G	11: 83,422,867	S540P	possibly damaging	Het
Glis2	T	C	16: 4,613,653	V348A	probably benign	Het
Gm14443	C	A	2: 175,169,936	G239V	probably damaging	Het
Gpr158	T	C	2: 21,826,717	V876A	probably damaging	Het
H1foo	A	G	6: 115,949,981	E273G	probably benign	Het
Hadh	C	T	3: 131,235,636	D245N	probably damaging	Het
Hk2	A	T	6: 82,734,976		probably benign	Het
Ice1	A	T	13: 70,619,044	Y108*	probably null	Het
Il10ra	T	G	9: 45,255,949	M435L	probably benign	Het
Inpp5k	GT	G	11: 75,631,147		probably null	Het
Kank4	G	T	4: 98,778,330	P627T	probably benign	Het
Kif16b	A	G	2: 142,707,426		probably benign	Het
Lipn	A	G	19: 34,076,976	I205V	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Myh1	T	C	11: 67,215,857	M1255T	probably benign	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Myo1d	T	G	11: 80,557,523	K925N	probably benign	Het
Myoz1	T	A	14: 20,649,554	M239L	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nf1	C	A	11: 79,453,979		probably benign	Het
Npepl1	C	T	2: 174,116,086	P239S	probably damaging	Het
Olfml1	A	G	7: 107,571,299	K131R	probably benign	Het
Olfr1258	T	A	2: 89,930,079	I90K	possibly damaging	Het
Olfr1303	A	C	2: 111,813,868	I286S	probably damaging	Het
Olfr344	T	A	2: 36,568,881	Y94*	probably null	Het
Olfr352	T	C	2: 36,870,010	L148S	possibly damaging	Het
Olfr358	G	A	2: 37,005,450	L55F	probably damaging	Het
Olfr389	A	G	11: 73,777,109	F73L	possibly damaging	Het
Olfr472	C	T	7: 107,903,005	T96I	probably benign	Het
Olfr771	C	T	10: 129,160,838	D49N	possibly damaging	Het
Pde7a	T	C	3: 19,241,533		probably benign	Het
Pik3c2g	T	C	6: 139,957,793	C591R	probably benign	Het
Pkn2	T	G	3: 142,853,582	K61Q	probably damaging	Het
Ppfia1	C	A	7: 144,504,974	G722C	probably damaging	Het
Ppp1cb	T	C	5: 32,487,614	V263A	probably damaging	Het
Rab11fip2	A	T	19: 59,907,135	N440K	possibly damaging	Het
Rbm34	T	A	8: 126,949,484	K340N	probably damaging	Het
Samd3	T	C	10: 26,271,501		probably benign	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Sigirr	T	C	7: 141,091,372	D399G	probably damaging	Het
Slc17a7	A	G	7: 45,174,947	E554G	probably benign	Het
Smc3	A	G	19: 53,601,562		probably benign	Het
Tdrd1	T	C	19: 56,831,271	Y68H	probably benign	Het
Tespa1	T	A	10: 130,360,850	L219Q	probably damaging	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Ttc38	A	G	15: 85,856,472	S436G	probably benign	Het
Ttn	T	A	2: 76,751,079	I23157F	probably damaging	Het
Ubxn2b	T	A	4: 6,203,875		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r72	T	C	7: 85,751,836	E125G	probably benign	Het
Vmn2r78	A	T	7: 86,923,027	D532V	probably benign	Het
Vwa8	C	A	14: 79,082,782	L1078I	probably benign	Het
Vwce	A	T	19: 10,664,089		probably null	Het
Zpr1	A	G	9: 46,279,697	D300G	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
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
R4866:Adam5	UTSW	8	24781603	missense	probably damaging	0.98
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
R8027:Adam5	UTSW	8	24782558	missense	probably damaging	1.00
R8069:Adam5	UTSW	8	24813525	missense	probably damaging	1.00
R8138:Adam5	UTSW	8	24781762	missense	probably damaging	1.00
R8305:Adam5	UTSW	8	24810703	missense	possibly damaging	0.93
R8359:Adam5	UTSW	8	24806486	missense	probably damaging	1.00
R8480:Adam5	UTSW	8	24804459	nonsense	probably null
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'- TCCACGCCCCATGTCCAGC -3'
(R):5'- CCAAAGTTTAGGGAAGGTGGGACTGT -3'

Sequencing Primer
(F):5'- ccagcccccaagaatgac -3'
(R):5'- CCTAATGTGGAACCTAAATTGCTAAC -3'

Posted On

2013-04-11