Mutagenetix > Incidental Mutation

Incidental Mutation 'R5267:Adam15'

401749

Institutional Source

Beutler Lab

Gene Symbol

Adam15

Ensembl Gene

ENSMUSG00000028041

Gene Name

ADAM metallopeptidase domain 15

Synonyms

metargidin, MDC15

MMRRC Submission

042859-MU

Accession Numbers

Essential gene?

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

Stock #

R5267 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

89246947-89257589 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to G at 89257206 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

noncoding transcript
Transcript: ENSMUST00000098929

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: ENSMUST00000155295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139467

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (86/88)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,374,933 (GRCm39)		probably benign	Het
Albfm1	T	C	5: 90,732,716 (GRCm39)	F509S	probably damaging	Het
Atp12a	T	C	14: 56,621,668 (GRCm39)	S768P	probably damaging	Het
Atp8a1	G	A	5: 67,919,887 (GRCm39)	T393I	probably damaging	Het
B4galnt4	T	G	7: 140,650,524 (GRCm39)	I3S	probably damaging	Het
Bfsp1	G	A	2: 143,668,971 (GRCm39)	T536I	probably benign	Het
Brsk1	G	T	7: 4,707,708 (GRCm39)	W284L	probably damaging	Het
Cadm3	A	T	1: 173,164,669 (GRCm39)	D370E	probably damaging	Het
Cadps2	A	G	6: 23,626,667 (GRCm39)	I207T	possibly damaging	Het
Calr4	A	C	4: 109,101,273 (GRCm39)	T52P	probably damaging	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Ckap5	T	A	2: 91,422,097 (GRCm39)	N1166K	probably null	Het
Clca4a	G	A	3: 144,659,573 (GRCm39)	T761I	probably damaging	Het
Cnksr3	A	T	10: 7,076,633 (GRCm39)		probably null	Het
Diaph3	A	G	14: 86,893,989 (GRCm39)	S7P	probably benign	Het
Dnah7a	G	A	1: 53,518,851 (GRCm39)	P2969S	probably damaging	Het
Dnai2	A	T	11: 114,631,293 (GRCm39)	T221S	probably benign	Het
Dsc2	A	G	18: 20,167,640 (GRCm39)		probably null	Het
Eif4g1	A	G	16: 20,504,283 (GRCm39)	N789S	probably damaging	Het
Fn1	C	T	1: 71,668,863 (GRCm39)	R694H	probably damaging	Het
Gm5478	G	A	15: 101,552,837 (GRCm39)	R365C	probably damaging	Het
Gm5591	A	T	7: 38,218,338 (GRCm39)	M845K	possibly damaging	Het
Gm5800	A	T	14: 51,951,294 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
H2-Q2	A	T	17: 35,562,155 (GRCm39)	Y134F	probably benign	Het
Hcfc1r1	A	G	17: 23,893,648 (GRCm39)	R76G	possibly damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Herc1	G	T	9: 66,369,091 (GRCm39)	L2928F	probably damaging	Het
Hmx3	C	T	7: 131,145,898 (GRCm39)	A202V	probably benign	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Il20ra	A	G	10: 19,625,107 (GRCm39)	T129A	probably damaging	Het
Il21	T	C	3: 37,281,946 (GRCm39)	H66R	probably benign	Het
Kcnh5	A	T	12: 75,134,190 (GRCm39)	M453K	probably damaging	Het
Kdf1	C	G	4: 133,256,258 (GRCm39)	A325G	probably damaging	Het
Klhl10	C	T	11: 100,338,047 (GRCm39)	A262V	probably benign	Het
Krt81	T	A	15: 101,357,340 (GRCm39)	N464I	probably benign	Het
Ksr1	A	T	11: 78,911,251 (GRCm39)	I698N	probably damaging	Het
Lrp2	A	G	2: 69,379,322 (GRCm39)	V130A	possibly damaging	Het
Mcm2	T	C	6: 88,874,432 (GRCm39)	T25A	probably benign	Het
Mrps18c	T	A	5: 100,950,960 (GRCm39)	Y93*	probably null	Het
Mycl	C	T	4: 122,894,289 (GRCm39)	A363V	probably damaging	Het
Mylk2	C	A	2: 152,755,469 (GRCm39)	A211E	probably benign	Het
Myo5a	G	A	9: 75,059,292 (GRCm39)	D507N	probably damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Oas1a	A	T	5: 121,037,284 (GRCm39)	C248S	probably benign	Het
Or2ag2b	T	C	7: 106,418,015 (GRCm39)	S242P	probably damaging	Het
Or4c15b	C	T	2: 89,112,574 (GRCm39)	W301*	probably null	Het
Or51aa2	T	C	7: 103,188,031 (GRCm39)	I137V	probably benign	Het
Or5b116	A	G	19: 13,422,475 (GRCm39)	Y33C	probably damaging	Het
Or5m9b	T	A	2: 85,905,882 (GRCm39)	V266E	probably benign	Het
Or5p67	A	G	7: 107,922,185 (GRCm39)	S233P	probably damaging	Het
Or8d1	G	A	9: 38,767,101 (GRCm39)	V248M	probably damaging	Het
Otub1	C	A	19: 7,177,357 (GRCm39)	G67C	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr8	A	G	1: 21,004,920 (GRCm39)	I25V	probably benign	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pde4d	T	G	13: 109,397,343 (GRCm39)		probably benign	Het
Pdzd8	C	A	19: 59,289,458 (GRCm39)	K647N	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Praf2	T	C	X: 7,596,641 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,939,575 (GRCm39)		probably benign	Het
Psg25	A	T	7: 18,258,711 (GRCm39)	Y322N	possibly damaging	Het
Rxrg	A	G	1: 167,463,335 (GRCm39)	E402G	probably damaging	Het
Selenok	T	A	14: 29,692,022 (GRCm39)	V20E	probably benign	Het
Sipa1	G	A	19: 5,705,786 (GRCm39)	T394I	probably benign	Het
Spag17	A	T	3: 99,969,264 (GRCm39)	N1247I	probably damaging	Het
Spata31d1c	A	G	13: 65,183,718 (GRCm39)	D420G	probably damaging	Het
Syk	A	G	13: 52,795,962 (GRCm39)	K519R	probably benign	Het
Syne2	A	T	12: 75,985,515 (GRCm39)	E1654D	possibly damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Thsd7a	T	A	6: 12,379,601 (GRCm39)	E941V	probably damaging	Het
Tjp1	T	C	7: 64,972,797 (GRCm39)	T548A	probably damaging	Het
Tube1	C	A	10: 39,020,552 (GRCm39)	D210E	probably benign	Het
Vmn1r183	T	A	7: 23,754,971 (GRCm39)	I258N	possibly damaging	Het
Vmn1r89	A	T	7: 12,954,140 (GRCm39)	N292I	probably damaging	Het
Vmp1	C	A	11: 86,554,377 (GRCm39)	V79L	probably benign	Het
Zfp182	T	A	X: 20,902,605 (GRCm39)	D125V	possibly damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Znrf1	G	A	8: 112,263,899 (GRCm39)	A43T	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
R1670:Adam15	UTSW	3	89,255,817 (GRCm39)	splice site	probably benign
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
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'- TAGGCTTTGGTCCGCAGATC -3'
(R):5'- TGTGGTGTCCAAACCCATC -3'

Sequencing Primer
(F):5'- AGGCTGCCCTCTGGTTAG -3'
(R):5'- GTGTCCAAACCCATCCCGGTAG -3'

Posted On

2016-07-06