Mutagenetix > Incidental Mutation

Incidental Mutation 'R4573:Adam15'

342256

Institutional Source

Beutler Lab

Gene Symbol

Adam15

Ensembl Gene

ENSMUSG00000028041

Gene Name

ADAM metallopeptidase domain 15

Synonyms

metargidin, MDC15

MMRRC Submission

041598-MU

Accession Numbers

Essential gene?

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

Stock #

R4573 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89246947-89257589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89253293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 212 (E212G)

Ref Sequence

ENSEMBL: ENSMUSP00000139147 (fasta)

Gene Model

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

AlphaFold

O88839

Predicted Effect

probably damaging
Transcript: ENSMUST00000029676
AA Change: E212G

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

SMART Domains

Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
AA Change: E212G

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 damaging
Transcript: ENSMUST00000074582
AA Change: E212G

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

SMART Domains

Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
AA Change: E212G

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 damaging
Transcript: ENSMUST00000107446
AA Change: E212G

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

SMART Domains

Protein: ENSMUSP00000103070
Gene: ENSMUSG00000028041
AA Change: E212G

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 damaging
Transcript: ENSMUST00000107448
AA Change: E212G

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

SMART Domains

Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
AA Change: E212G

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

probably damaging
Transcript: ENSMUST00000184651
AA Change: E212G

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

SMART Domains

Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
AA Change: E212G

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: ENSMUST00000148068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155295

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Akr1b10	T	C	6: 34,369,064 (GRCm39)	V153A	probably damaging	Het
Ap1m2	T	C	9: 21,217,054 (GRCm39)	Y94C	probably damaging	Het
Arhgef33	T	C	17: 80,672,711 (GRCm39)	S320P	probably damaging	Het
Arsg	T	C	11: 109,408,108 (GRCm39)	S87P	probably damaging	Het
Asic3	A	G	5: 24,622,190 (GRCm39)	Y458C	probably damaging	Het
Aspm	G	T	1: 139,407,245 (GRCm39)	W2044L	probably damaging	Het
Atad2b	T	C	12: 5,004,663 (GRCm39)		probably null	Het
Atp1a2	T	C	1: 172,106,204 (GRCm39)	I869M	possibly damaging	Het
Bpifb2	C	T	2: 153,731,412 (GRCm39)	L263F	probably damaging	Het
C1s2	T	C	6: 124,605,202 (GRCm39)		probably null	Het
Carf	G	T	1: 60,187,271 (GRCm39)	A590S	probably benign	Het
Cbarp	G	T	10: 79,967,245 (GRCm39)	D658E	probably damaging	Het
Cd1d2	A	G	3: 86,894,861 (GRCm39)	I78V	probably benign	Het
Cdc42bpb	A	T	12: 111,289,575 (GRCm39)	M418K	probably benign	Het
Cdhr3	A	T	12: 33,118,152 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,354,712 (GRCm39)	K932R	probably benign	Het
Ces1d	A	C	8: 93,908,162 (GRCm39)	N310K	probably benign	Het
Chka	A	G	19: 3,935,960 (GRCm39)	K240R	probably damaging	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cyp4f37	A	G	17: 32,848,061 (GRCm39)	E193G	probably benign	Het
Dhrs9	C	A	2: 69,227,985 (GRCm39)	H200N	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Dnah8	T	C	17: 30,919,380 (GRCm39)	S1118P	probably benign	Het
Dyrk1a	A	G	16: 94,492,882 (GRCm39)	Y705C	possibly damaging	Het
Elmod1	T	C	9: 53,833,256 (GRCm39)	N183S	probably damaging	Het
Fer1l6	G	A	15: 58,498,129 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,816,510 (GRCm39)	Y4081F	possibly damaging	Het
Gsr	A	G	8: 34,183,881 (GRCm39)	D381G	probably benign	Het
Gucy1a1	A	G	3: 82,016,229 (GRCm39)	L253S	possibly damaging	Het
Herc3	C	A	6: 58,871,098 (GRCm39)	T69K	possibly damaging	Het
Hoxb13	A	G	11: 96,085,777 (GRCm39)	Y170C	probably damaging	Het
Hsd3b5	T	C	3: 98,526,964 (GRCm39)	M161V	probably benign	Het
Lrp6	G	A	6: 134,447,693 (GRCm39)	R985*	probably null	Het
Marchf5	T	A	19: 37,197,793 (GRCm39)	I154K	probably damaging	Het
Mcemp1	A	G	8: 3,715,835 (GRCm39)		probably null	Het
Mrpl2	G	T	17: 46,959,967 (GRCm39)	C212F	possibly damaging	Het
Mterf1a	G	A	5: 3,941,119 (GRCm39)	R250W	possibly damaging	Het
Mthfd1	A	G	12: 76,340,912 (GRCm39)		probably null	Het
Mul1	T	C	4: 138,163,660 (GRCm39)	F19L	probably benign	Het
Mycbp2	G	T	14: 103,583,733 (GRCm39)	A74E	probably benign	Het
Myo5a	A	T	9: 75,108,579 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,132,889 (GRCm39)	S33T	probably damaging	Het
Niban1	T	C	1: 151,579,517 (GRCm39)	V412A	possibly damaging	Het
Ninj1	A	G	13: 49,348,463 (GRCm39)	N191S	probably damaging	Het
Nrap	T	C	19: 56,330,770 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or1j21	T	A	2: 36,683,491 (GRCm39)	M81K	probably damaging	Het
Or1n1b	T	C	2: 36,780,202 (GRCm39)	I219M	probably damaging	Het
Osbpl5	C	A	7: 143,248,053 (GRCm39)	V671L	probably benign	Het
Paics	T	C	5: 77,104,450 (GRCm39)	L25S	probably benign	Het
Pcmtd1	A	G	1: 7,190,591 (GRCm39)	E20G	probably damaging	Het
Pgbd5	G	A	8: 125,102,966 (GRCm39)	Q228*	probably null	Het
Pnpla7	T	C	2: 24,940,885 (GRCm39)	V1079A	probably damaging	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ppp1r14c	A	G	10: 3,413,416 (GRCm39)	I150V	possibly damaging	Het
Ppp1r2	A	G	16: 31,079,455 (GRCm39)	Y115H	possibly damaging	Het
Ptchd4	T	C	17: 42,813,668 (GRCm39)	V523A	probably benign	Het
Rabep1	G	C	11: 70,808,577 (GRCm39)	S468T	probably damaging	Het
Rgs6	T	A	12: 83,112,789 (GRCm39)	W200R	probably damaging	Het
Ryr3	C	T	2: 112,585,519 (GRCm39)		probably null	Het
Scamp2	A	T	9: 57,484,477 (GRCm39)	D20V	probably damaging	Het
Sec24d	G	A	3: 123,152,519 (GRCm39)	V844M	probably damaging	Het
Septin10	T	A	10: 59,028,151 (GRCm39)	N57Y	probably damaging	Het
Sis	T	C	3: 72,835,570 (GRCm39)	K931E	possibly damaging	Het
Slamf7	T	C	1: 171,463,934 (GRCm39)	T258A	probably benign	Het
Slc15a1	A	G	14: 121,724,441 (GRCm39)	S144P	probably damaging	Het
Slc6a7	A	T	18: 61,135,253 (GRCm39)	V425E	probably benign	Het
Syt7	C	T	19: 10,416,576 (GRCm39)	R253*	probably null	Het
Tm4sf1	A	T	3: 57,202,206 (GRCm39)	C2S	possibly damaging	Het
Trio	CCTTCTTCTTCT	CCTTCTTCT	15: 27,773,084 (GRCm39)		probably benign	Het
Trpm3	C	T	19: 22,879,506 (GRCm39)	H594Y	probably damaging	Het
Tshz1	A	T	18: 84,033,207 (GRCm39)	N400K	probably damaging	Het
Vat1	A	T	11: 101,351,441 (GRCm39)	M300K	probably benign	Het
Vmn1r70	C	A	7: 10,367,556 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,339 (GRCm39)	D410N	probably damaging	Het
Yap1	T	C	9: 7,934,682 (GRCm39)	D428G	probably damaging	Het
Zbed6	A	G	1: 133,587,127 (GRCm39)	I70T	probably benign	Het
Zfp157	A	G	5: 138,455,191 (GRCm39)	Y463C	probably damaging	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
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'- CAGCAGTTGTTGGAAGTCAGG -3'
(R):5'- TGCTTTGGAGTGGGAAAATAGAGTC -3'

Sequencing Primer
(F):5'- CAGGGTACTTTCTGACCTGG -3'
(R):5'- ATGGGCTTCATAATCTGTCCTTG -3'

Posted On

2015-09-24