Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Adam15'

503831

Institutional Source

Beutler Lab

Gene Symbol

Adam15

Ensembl Gene

ENSMUSG00000028041

Gene Name

a disintegrin and metallopeptidase domain 15 (metargidin)

Synonyms

MDC15, metargidin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89338542-89349996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89343883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 505 (I505S)

Ref Sequence

ENSEMBL: ENSMUSP00000139147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029676] [ENSMUST00000074582] [ENSMUST00000107446] [ENSMUST00000107448] [ENSMUST00000184651]

AlphaFold

O88839

Predicted Effect

probably benign
Transcript: ENSMUST00000029676
AA Change: I505S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
AA Change: I505S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	29	158	1.2e-14	PFAM
Pfam:Reprolysin_3	208	360	1e-12	PFAM
Pfam:Reprolysin_5	212	394	1.5e-15	PFAM
Pfam:Reprolysin_4	214	410	3.1e-8	PFAM
Pfam:Reprolysin	214	416	1.6e-54	PFAM
Pfam:Reprolysin_2	257	405	9.9e-12	PFAM
DISIN	431	507	2.28e-37	SMART
ACR	508	650	8.38e-56	SMART
EGF	657	686	7.02e-1	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	763	781	N/A	INTRINSIC
low complexity region	808	862	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074582
AA Change: I505S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
AA Change: I505S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	164	2.6e-21	PFAM
Pfam:Reprolysin_5	212	394	1.6e-15	PFAM
Pfam:Reprolysin_4	214	410	2.9e-8	PFAM
Pfam:Reprolysin	214	415	4.2e-56	PFAM
Pfam:Reprolysin_3	238	360	1.7e-14	PFAM
Pfam:Reprolysin_2	254	405	1.1e-10	PFAM
DISIN	431	507	2.28e-37	SMART
ACR	508	650	8.38e-56	SMART
EGF	657	686	7.02e-1	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	760	813	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107446

SMART Domains

Protein: ENSMUSP00000103070
Gene: ENSMUSG00000028041

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	164	9.9e-22	PFAM
Pfam:Reprolysin_3	209	360	5.9e-15	PFAM
Pfam:Reprolysin_5	212	394	5e-16	PFAM
Pfam:Reprolysin_4	213	410	1e-8	PFAM
Pfam:Reprolysin	214	415	1.4e-56	PFAM
Pfam:Reprolysin_2	253	405	4e-11	PFAM
low complexity region	416	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107448
AA Change: I505S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
AA Change: I505S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	164	2.7e-21	PFAM
Pfam:Reprolysin_5	212	394	1.6e-15	PFAM
Pfam:Reprolysin_4	214	410	3e-8	PFAM
Pfam:Reprolysin	214	415	4.4e-56	PFAM
Pfam:Reprolysin_3	238	360	1.8e-14	PFAM
Pfam:Reprolysin_2	254	405	1.2e-10	PFAM
DISIN	431	507	2.28e-37	SMART
ACR	508	650	8.38e-56	SMART
EGF	657	686	7.02e-1	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	783	837	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156250

Predicted Effect

probably benign
Transcript: ENSMUST00000184651
AA Change: I505S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
AA Change: I505S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	164	2.9e-21	PFAM
Pfam:Reprolysin_5	212	394	1.7e-15	PFAM
Pfam:Reprolysin_4	214	410	3.1e-8	PFAM
Pfam:Reprolysin	214	415	4.6e-56	PFAM
Pfam:Reprolysin_3	238	360	1.9e-14	PFAM
Pfam:Reprolysin_2	255	405	1.2e-10	PFAM
DISIN	431	507	2.28e-37	SMART
ACR	508	650	8.38e-56	SMART
EGF	657	686	7.02e-1	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	763	781	N/A	INTRINSIC
low complexity region	808	862	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180791

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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. This gene is prominently expressed in vascular cells, the endocardium, hypertrophic cells in developing bone, and specific areas of hippocampus and cerebellum. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein have increased bone mass resulting from osteoblast proliferation, and exhibit reduced neovascularization in a mouse model for retinopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice develop normally and exhibit normal angiogenesis, but show a resistance to pathological neovascularization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	Het

Other mutations in Adam15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01929:Adam15	APN	3	89344138	missense	probably benign	0.03
IGL01994:Adam15	APN	3	89341505	splice site	probably benign
IGL02184:Adam15	APN	3	89345934	splice site	probably benign
IGL02501:Adam15	APN	3	89340462	missense	possibly damaging	0.82
IGL02821:Adam15	APN	3	89345356	missense	probably damaging	1.00
IGL02933:Adam15	APN	3	89343483	missense	possibly damaging	0.91
IGL03078:Adam15	APN	3	89345937	splice site	probably benign
IGL03185:Adam15	APN	3	89347905	missense	probably benign	0.41
PIT4280001:Adam15	UTSW	3	89343978	critical splice acceptor site	probably null
PIT4581001:Adam15	UTSW	3	89343832	missense	probably benign	0.00
R0559:Adam15	UTSW	3	89343778	missense	probably damaging	1.00
R1530:Adam15	UTSW	3	89349830	missense	probably damaging	0.99
R1670:Adam15	UTSW	3	89348510	splice site	probably benign
R1909:Adam15	UTSW	3	89345330	missense	probably benign	0.19
R3110:Adam15	UTSW	3	89347457	missense	probably benign	0.10
R3112:Adam15	UTSW	3	89347457	missense	probably benign	0.10
R3897:Adam15	UTSW	3	89346938	missense	probably benign	0.00
R4058:Adam15	UTSW	3	89347055	missense	possibly damaging	0.94
R4573:Adam15	UTSW	3	89345986	missense	probably damaging	1.00
R5267:Adam15	UTSW	3	89349899	utr 5 prime	probably benign
R5364:Adam15	UTSW	3	89345595	missense	probably damaging	1.00
R5801:Adam15	UTSW	3	89342361	missense	probably damaging	1.00
R5813:Adam15	UTSW	3	89345828	missense	probably benign	0.12
R5964:Adam15	UTSW	3	89343567	nonsense	probably null
R6564:Adam15	UTSW	3	89347212	missense	possibly damaging	0.56
R6579:Adam15	UTSW	3	89345629	missense	probably damaging	1.00
R6834:Adam15	UTSW	3	89340083	missense	probably damaging	0.96
R7131:Adam15	UTSW	3	89346980	missense	possibly damaging	0.64
R7204:Adam15	UTSW	3	89346937	missense	probably benign	0.01
R7578:Adam15	UTSW	3	89344192	missense	probably damaging	1.00
R7663:Adam15	UTSW	3	89345806	missense	probably damaging	0.99
R8016:Adam15	UTSW	3	89345361	missense	probably benign
R8098:Adam15	UTSW	3	89343886	missense	probably damaging	1.00
R8133:Adam15	UTSW	3	89347206	missense	probably benign	0.02
R8230:Adam15	UTSW	3	89345610	missense	probably benign	0.06
R9149:Adam15	UTSW	3	89347435	missense	possibly damaging	0.60
R9307:Adam15	UTSW	3	89347483	missense	possibly damaging	0.94
R9308:Adam15	UTSW	3	89347483	missense	possibly damaging	0.94
R9321:Adam15	UTSW	3	89347487	critical splice acceptor site	probably null
R9612:Adam15	UTSW	3	89341940	missense	probably damaging	1.00
R9670:Adam15	UTSW	3	89345963	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AAGGTGCCCACAAACTCAGG -3'
(R):5'- CAGGCTCAAAGACTCATCCTG -3'

Sequencing Primer
(F):5'- CACTTACCTAGGGGCACAAGG -3'
(R):5'- ATCCTGAGCTCTGACCCTGAG -3'

Posted On

2018-02-27