Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Adam15'

471929

Institutional Source

Beutler Lab

Gene Symbol

Adam15

Ensembl Gene

ENSMUSG00000028041

Gene Name

a disintegrin and metallopeptidase domain 15 (metargidin)

Synonyms

MDC15, metargidin

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89338542-89349996 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 89343567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 581 (Q581*)

Ref Sequence

ENSEMBL: ENSMUSP00000139147 (fasta)

Gene Model

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

AlphaFold

O88839

Predicted Effect

probably null
Transcript: ENSMUST00000029676
AA Change: Q581*

SMART Domains

Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
AA Change: Q581*

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 null
Transcript: ENSMUST00000074582
AA Change: Q581*

SMART Domains

Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
AA Change: Q581*

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 null
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 null
Transcript: ENSMUST00000107448
AA Change: Q581*

SMART Domains

Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
AA Change: Q581*

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

probably null
Transcript: ENSMUST00000184651
AA Change: Q581*

SMART Domains

Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
AA Change: Q581*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156250

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,793,774	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227		probably benign	Het
Bbs2	T	C	8: 94,068,367	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723	E658V	probably benign	Het
Cog7	T	C	7: 121,956,029	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,365,760	V286E	possibly damaging	Het
Creg2	C	A	1: 39,624,954	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,699,962	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,926,223	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,023,699	V347D	probably benign	Het
Gigyf2	C	T	1: 87,407,167	T294M	probably damaging	Het
Gli3	C	G	13: 15,726,162	S1378*	probably null	Het
Gm884	A	G	11: 103,542,120	S1232P	possibly damaging	Het
Gnao1	G	A	8: 93,966,999	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524	I311M	probably damaging	Het
Lsm14b	T	A	2: 180,031,425	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079		probably null	Het
Ngrn	T	C	7: 80,261,933		probably null	Het
Nlrp1a	T	A	11: 71,123,020	Q468L	probably benign	Het
Olfr1450	A	C	19: 12,954,531	Q314P	probably benign	Het
Olfr743	T	A	14: 50,534,198	M262K	probably damaging	Het
Phtf2	T	C	5: 20,775,934	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852	Q140*	probably null	Het
Prtg	G	A	9: 72,892,254	G778E	probably benign	Het
Pum3	T	C	19: 27,420,051	E308G	probably damaging	Het
Pwp1	T	G	10: 85,882,886	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696		probably benign	Het
Serac1	T	A	17: 6,065,049	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951		probably null	Het
Smarca4	C	A	9: 21,647,430	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,128,895	V140A	probably damaging	Het
Tcf12	A	T	9: 71,868,240	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,271,703	H131N	probably damaging	Het
Ttn	C	A	2: 76,713,511	E31298*	probably null	Het
Ttn	C	A	2: 76,829,888	R7458I	possibly damaging	Het
Usp7	A	G	16: 8,712,102	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933	K21R	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
R6218:Adam15	UTSW	3	89343883	missense	probably benign	0.00
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'- TTCTCAATCGCCCAGGCTAC -3'
(R):5'- GCCACTTTGCCTCCAAACAG -3'

Sequencing Primer
(F):5'- AGGCTACTCACCAGGCCAG -3'
(R):5'- CAGCCAACACTCGGGGTAATG -3'

Posted On

2017-03-31