Mutagenetix > Incidental Mutation

Incidental Mutation 'R1670:Adam15'

187529

Institutional Source

Beutler Lab

Gene Symbol

Adam15

Ensembl Gene

ENSMUSG00000028041

Gene Name

ADAM metallopeptidase domain 15

Synonyms

metargidin, MDC15

MMRRC Submission

039706-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R1670 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

89246947-89257589 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 89255817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029676] [ENSMUST00000070820] [ENSMUST00000074582] [ENSMUST00000107446] [ENSMUST00000107448] [ENSMUST00000184651]

AlphaFold

O88839

Predicted Effect

probably benign
Transcript: ENSMUST00000029676

SMART Domains

Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041

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: ENSMUST00000070820

SMART Domains

Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672

Domain	Start	End	E-Value	Type
coiled coil region	18	44	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	108	125	N/A	INTRINSIC
transmembrane domain	398	420	N/A	INTRINSIC
Pfam:DC_STAMP	431	621	1.5e-55	PFAM
Blast:RING	672	710	3e-17	BLAST
SCOP:d1ldjb_	672	710	2e-3	SMART
low complexity region	717	728	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074582

SMART Domains

Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041

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

SMART Domains

Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041

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: ENSMUST00000124766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134590

Predicted Effect

probably benign
Transcript: ENSMUST00000184651

SMART Domains

Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041

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: ENSMUST00000134839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139467

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,540,448 (GRCm39)	V1497A	possibly damaging	Het
Angel2	T	A	1: 190,674,360 (GRCm39)	S371T	probably benign	Het
Atr	T	A	9: 95,743,509 (GRCm39)	N49K	probably benign	Het
Bace2	G	A	16: 97,213,335 (GRCm39)	M228I	probably damaging	Het
Bdp1	A	C	13: 100,163,941 (GRCm39)		probably null	Het
Calr	A	T	8: 85,570,748 (GRCm39)	D302E	probably benign	Het
Camta1	T	C	4: 151,164,228 (GRCm39)	D340G	probably benign	Het
Car11	C	T	7: 45,352,949 (GRCm39)	T236I	possibly damaging	Het
Cfap69	A	T	5: 5,636,409 (GRCm39)	S275T	probably benign	Het
Cib2	G	A	9: 54,455,653 (GRCm39)	R104W	probably damaging	Het
CN725425	T	C	15: 91,130,018 (GRCm39)	S294P	possibly damaging	Het
Coro7	G	A	16: 4,446,097 (GRCm39)	S876F	possibly damaging	Het
Cspg4	G	A	9: 56,804,687 (GRCm39)	V1833M	probably damaging	Het
Dennd6b	C	A	15: 89,069,540 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,914,341 (GRCm39)	Y979N	possibly damaging	Het
Dnaaf9	G	A	2: 130,554,299 (GRCm39)	P187S	probably damaging	Het
Dnah8	A	T	17: 30,944,098 (GRCm39)	I1772F	probably damaging	Het
Dync2h1	A	T	9: 6,993,942 (GRCm39)	I3976N	possibly damaging	Het
Ebi3	T	C	17: 56,261,479 (GRCm39)	I125T	probably damaging	Het
Elfn2	C	T	15: 78,556,568 (GRCm39)	A660T	probably benign	Het
F12	C	T	13: 55,569,346 (GRCm39)	C209Y	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr2	T	A	7: 129,782,187 (GRCm39)	D413V	probably damaging	Het
Gdf10	T	A	14: 33,654,000 (GRCm39)	I169N	possibly damaging	Het
Gdnf	T	C	15: 7,845,130 (GRCm39)	V41A	probably benign	Het
Gm9857	A	T	3: 108,847,478 (GRCm39)		probably benign	Het
Gpatch11	A	G	17: 79,146,529 (GRCm39)	E58G	possibly damaging	Het
Gpr55	A	G	1: 85,869,137 (GRCm39)	V148A	possibly damaging	Het
Gucy1b1	A	G	3: 81,952,767 (GRCm39)	I222T	probably benign	Het
Hnf4a	T	C	2: 163,404,496 (GRCm39)	S227P	probably damaging	Het
Hsfy2	A	G	1: 56,675,548 (GRCm39)	S330P	possibly damaging	Het
Hycc1	T	A	5: 24,204,989 (GRCm39)	M1L	possibly damaging	Het
Ift122	T	C	6: 115,900,844 (GRCm39)	V1054A	probably benign	Het
Il27	T	A	7: 126,188,647 (GRCm39)	E175D	probably benign	Het
Lactb2	A	T	1: 13,730,641 (GRCm39)	S12T	probably damaging	Het
Lrfn2	T	C	17: 49,403,605 (GRCm39)	V576A	probably benign	Het
Mansc4	C	G	6: 146,976,689 (GRCm39)	R309T	possibly damaging	Het
Med12l	AACAGCA	AACAGCAACAGCA	3: 59,183,379 (GRCm39)		probably benign	Het
Mrpl16	C	T	19: 11,751,959 (GRCm39)	R240*	probably null	Het
Muc17	A	G	5: 137,172,843 (GRCm39)	V70A	probably benign	Het
Ndnf	A	G	6: 65,680,054 (GRCm39)	D111G	probably benign	Het
Nek4	T	C	14: 30,704,384 (GRCm39)	F688S	probably damaging	Het
Nkx2-6	T	A	14: 69,412,126 (GRCm39)	M98K	probably benign	Het
Nup188	T	C	2: 30,230,667 (GRCm39)	S1402P	probably benign	Het
Or10j2	T	A	1: 173,098,467 (GRCm39)	S242T	probably damaging	Het
Or2t48	A	T	11: 58,420,237 (GRCm39)	S192T	probably damaging	Het
Or4f14b	C	T	2: 111,775,264 (GRCm39)	C179Y	probably damaging	Het
Or52i2	A	G	7: 102,319,609 (GRCm39)	T161A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,607 (GRCm39)	N88K	probably benign	Het
Or5ac24	T	C	16: 59,165,790 (GRCm39)	I91M	possibly damaging	Het
Or5m9b	T	A	2: 85,905,594 (GRCm39)	V170D	probably benign	Het
Parp10	A	T	15: 76,126,270 (GRCm39)	V306E	probably benign	Het
Pcnx3	A	G	19: 5,723,343 (GRCm39)	L1284P	probably damaging	Het
Pld1	A	T	3: 28,103,389 (GRCm39)	I365F	probably benign	Het
Pnisr	A	G	4: 21,865,893 (GRCm39)	D294G	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Ptprn2	A	C	12: 116,685,792 (GRCm39)	T84P	possibly damaging	Het
Rln1	C	T	19: 29,309,468 (GRCm39)	E104K	possibly damaging	Het
Rnf38	A	G	4: 44,138,681 (GRCm39)	S271P	probably damaging	Het
Rngtt	A	G	4: 33,368,660 (GRCm39)	T398A	probably benign	Het
Rprd2	G	T	3: 95,672,115 (GRCm39)	T1096K	probably damaging	Het
Sema3e	C	T	5: 14,212,199 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,548,945 (GRCm39)	C140S	probably damaging	Het
Shpk	A	C	11: 73,113,757 (GRCm39)	D390A	probably benign	Het
Slc22a20	C	T	19: 6,022,876 (GRCm39)		probably benign	Het
Steap2	A	G	5: 5,727,393 (GRCm39)	V314A	possibly damaging	Het
Stxbp5l	A	G	16: 37,111,289 (GRCm39)		probably null	Het
Tgm3	G	T	2: 129,883,688 (GRCm39)	E449*	probably null	Het
Tmem68	A	C	4: 3,560,627 (GRCm39)	L186V	probably damaging	Het
Ttc41	T	A	10: 86,612,116 (GRCm39)	W1130R	possibly damaging	Het
Ttpal	T	C	2: 163,457,286 (GRCm39)	F253L	possibly damaging	Het
Vmn2r99	G	T	17: 19,582,514 (GRCm39)	V40F	probably benign	Het
Xkr9	G	A	1: 13,771,167 (GRCm39)	V228M	probably damaging	Het
Zc3h7b	C	T	15: 81,661,268 (GRCm39)	A369V	probably benign	Het

Other mutations in Adam15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01929:Adam15	APN	3	89,251,445 (GRCm39)	missense	probably benign	0.03
IGL01994:Adam15	APN	3	89,248,812 (GRCm39)	splice site	probably benign
IGL02184:Adam15	APN	3	89,253,241 (GRCm39)	splice site	probably benign
IGL02501:Adam15	APN	3	89,247,769 (GRCm39)	missense	possibly damaging	0.82
IGL02821:Adam15	APN	3	89,252,663 (GRCm39)	missense	probably damaging	1.00
IGL02933:Adam15	APN	3	89,250,790 (GRCm39)	missense	possibly damaging	0.91
IGL03078:Adam15	APN	3	89,253,244 (GRCm39)	splice site	probably benign
IGL03185:Adam15	APN	3	89,255,212 (GRCm39)	missense	probably benign	0.41
PIT4280001:Adam15	UTSW	3	89,251,285 (GRCm39)	critical splice acceptor site	probably null
PIT4581001:Adam15	UTSW	3	89,251,139 (GRCm39)	missense	probably benign	0.00
R0559:Adam15	UTSW	3	89,251,085 (GRCm39)	missense	probably damaging	1.00
R1530:Adam15	UTSW	3	89,257,137 (GRCm39)	missense	probably damaging	0.99
R1909:Adam15	UTSW	3	89,252,637 (GRCm39)	missense	probably benign	0.19
R3110:Adam15	UTSW	3	89,254,764 (GRCm39)	missense	probably benign	0.10
R3112:Adam15	UTSW	3	89,254,764 (GRCm39)	missense	probably benign	0.10
R3897:Adam15	UTSW	3	89,254,245 (GRCm39)	missense	probably benign	0.00
R4058:Adam15	UTSW	3	89,254,362 (GRCm39)	missense	possibly damaging	0.94
R4573:Adam15	UTSW	3	89,253,293 (GRCm39)	missense	probably damaging	1.00
R5267:Adam15	UTSW	3	89,257,206 (GRCm39)	utr 5 prime	probably benign
R5364:Adam15	UTSW	3	89,252,902 (GRCm39)	missense	probably damaging	1.00
R5801:Adam15	UTSW	3	89,249,668 (GRCm39)	missense	probably damaging	1.00
R5813:Adam15	UTSW	3	89,253,135 (GRCm39)	missense	probably benign	0.12
R5964:Adam15	UTSW	3	89,250,874 (GRCm39)	nonsense	probably null
R6218:Adam15	UTSW	3	89,251,190 (GRCm39)	missense	probably benign	0.00
R6564:Adam15	UTSW	3	89,254,519 (GRCm39)	missense	possibly damaging	0.56
R6579:Adam15	UTSW	3	89,252,936 (GRCm39)	missense	probably damaging	1.00
R6834:Adam15	UTSW	3	89,247,390 (GRCm39)	missense	probably damaging	0.96
R7131:Adam15	UTSW	3	89,254,287 (GRCm39)	missense	possibly damaging	0.64
R7204:Adam15	UTSW	3	89,254,244 (GRCm39)	missense	probably benign	0.01
R7578:Adam15	UTSW	3	89,251,499 (GRCm39)	missense	probably damaging	1.00
R7663:Adam15	UTSW	3	89,253,113 (GRCm39)	missense	probably damaging	0.99
R8016:Adam15	UTSW	3	89,252,668 (GRCm39)	missense	probably benign
R8098:Adam15	UTSW	3	89,251,193 (GRCm39)	missense	probably damaging	1.00
R8133:Adam15	UTSW	3	89,254,513 (GRCm39)	missense	probably benign	0.02
R8230:Adam15	UTSW	3	89,252,917 (GRCm39)	missense	probably benign	0.06
R9149:Adam15	UTSW	3	89,254,742 (GRCm39)	missense	possibly damaging	0.60
R9307:Adam15	UTSW	3	89,254,790 (GRCm39)	missense	possibly damaging	0.94
R9308:Adam15	UTSW	3	89,254,790 (GRCm39)	missense	possibly damaging	0.94
R9321:Adam15	UTSW	3	89,254,794 (GRCm39)	critical splice acceptor site	probably null
R9612:Adam15	UTSW	3	89,249,247 (GRCm39)	missense	probably damaging	1.00
R9670:Adam15	UTSW	3	89,253,270 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGTACGTGATGGACAGACAGGCTG -3'
(R):5'- AGCTGCAAGCTGGATACTCTGAAC -3'

Sequencing Primer
(F):5'- CTGAGGCCGAGGCAGAC -3'
(R):5'- AAGTCACTGATATAGCCTTCTGTGC -3'

Posted On

2014-05-09