Mutagenetix > Incidental Mutation

Incidental Mutation 'R7578:Adam15'

586561

Institutional Source

Beutler Lab

Gene Symbol

Adam15

Ensembl Gene

ENSMUSG00000028041

Gene Name

ADAM metallopeptidase domain 15

Synonyms

metargidin, MDC15

MMRRC Submission

045663-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R7578 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89246947-89257589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89251499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 449 (C449R)

Ref Sequence

ENSEMBL: ENSMUSP00000029676 (fasta)

Gene Model

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

AlphaFold

O88839

Predicted Effect

probably damaging
Transcript: ENSMUST00000029676
AA Change: C449R

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

SMART Domains

Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
AA Change: C449R

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 damaging
Transcript: ENSMUST00000074582
AA Change: C449R

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

SMART Domains

Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
AA Change: C449R

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 damaging
Transcript: ENSMUST00000107448
AA Change: C449R

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

SMART Domains

Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
AA Change: C449R

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

probably damaging
Transcript: ENSMUST00000184651
AA Change: C449R

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

SMART Domains

Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
AA Change: C449R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,120,343 (GRCm39)	V165E	probably damaging	Het
1700025G04Rik	T	G	1: 151,796,841 (GRCm39)	T75P	probably benign	Het
4930516K23Rik	T	C	7: 103,708,104 (GRCm39)	E235G	probably benign	Het
Adam24	T	C	8: 41,133,294 (GRCm39)	V254A	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Aldh1a1	A	C	19: 20,595,366 (GRCm39)	R98S	probably damaging	Het
Alg9	A	G	9: 50,700,835 (GRCm39)	I202V	probably benign	Het
Anks1b	G	A	10: 89,885,789 (GRCm39)	E162K	probably damaging	Het
Atp6v1b2	A	G	8: 69,556,128 (GRCm39)	T268A	probably benign	Het
Atxn1	C	T	13: 45,720,834 (GRCm39)	V354I	probably benign	Het
B3galt1	A	G	2: 67,948,896 (GRCm39)	T204A	probably damaging	Het
Catsperb	T	A	12: 101,554,544 (GRCm39)	I746K	probably benign	Het
Cdh23	G	A	10: 60,243,186 (GRCm39)	T1063M	probably benign	Het
Cherp	G	A	8: 73,218,102 (GRCm39)	R543C		Het
Cldn20	A	G	17: 3,583,274 (GRCm39)	D149G	probably damaging	Het
Clk2	A	G	3: 89,083,807 (GRCm39)	Q474R	probably benign	Het
Cp	A	G	3: 20,043,262 (GRCm39)	T1017A	possibly damaging	Het
Cyp2c39	T	C	19: 39,499,400 (GRCm39)	L29P	probably damaging	Het
Ebf3	C	T	7: 136,915,261 (GRCm39)	V93M	probably damaging	Het
Eef1akmt1	T	A	14: 57,787,328 (GRCm39)	M183L	probably damaging	Het
Fhip1a	G	T	3: 85,573,205 (GRCm39)	L915I	probably damaging	Het
Filip1l	A	G	16: 57,333,645 (GRCm39)	E146G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,293 (GRCm39)	S283G	possibly damaging	Het
Fras1	A	T	5: 96,832,296 (GRCm39)	Y1543F	probably damaging	Het
Garin2	T	C	12: 78,762,275 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gjd3	A	G	11: 98,873,301 (GRCm39)	V181A	probably damaging	Het
Gm49368	T	A	7: 127,711,430 (GRCm39)	C711*	probably null	Het
Gtf3c2	A	G	5: 31,330,341 (GRCm39)	S210P	probably benign	Het
Herc2	A	G	7: 55,784,548 (GRCm39)	Y1404C	probably benign	Het
Il22ra2	T	A	10: 19,507,372 (GRCm39)	D128E	probably benign	Het
Itgav	T	A	2: 83,578,219 (GRCm39)	D113E	probably benign	Het
Kcnd3	A	G	3: 105,366,933 (GRCm39)	M268V	probably benign	Het
Kirrel3	G	T	9: 34,850,408 (GRCm39)	G19V	probably damaging	Het
Klf17	T	G	4: 117,617,916 (GRCm39)	Y147S	possibly damaging	Het
Leng1	C	T	7: 3,668,382 (GRCm39)	R22H	probably damaging	Het
Lysmd4	T	A	7: 66,876,037 (GRCm39)	Y233*	probably null	Het
Lyzl6	A	G	11: 103,525,832 (GRCm39)	V96A	probably benign	Het
Mki67	T	C	7: 135,302,644 (GRCm39)	T797A	possibly damaging	Het
Nuf2	G	T	1: 169,332,097 (GRCm39)	H399Q	probably benign	Het
Nuggc	T	C	14: 65,885,623 (GRCm39)	V766A	probably damaging	Het
Oas1c	A	T	5: 120,940,244 (GRCm39)	D307E	probably damaging	Het
Odad2	A	T	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Or10aa3	T	A	1: 173,878,266 (GRCm39)	M109K	possibly damaging	Het
Or6c5b	T	C	10: 129,245,544 (GRCm39)	I103T	probably damaging	Het
P4ha3	T	C	7: 99,943,121 (GRCm39)	Y169H	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,417,585 (GRCm39)	D2522G	probably damaging	Het
Prickle2	T	C	6: 92,388,271 (GRCm39)	D433G	probably benign	Het
Ptcd3	A	G	6: 71,885,691 (GRCm39)	S12P	probably benign	Het
Ptpn23	T	A	9: 110,216,676 (GRCm39)	Q1060L	probably benign	Het
Rai14	G	T	15: 10,574,914 (GRCm39)	N710K	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Satb2	A	G	1: 56,910,943 (GRCm39)	V234A	probably benign	Het
Scg2	T	C	1: 79,414,612 (GRCm39)	Q37R	probably damaging	Het
Slc35e3	A	T	10: 117,576,484 (GRCm39)	S230T	probably damaging	Het
Slc39a2	T	C	14: 52,132,873 (GRCm39)	V272A	probably damaging	Het
Smg7	T	A	1: 152,721,181 (GRCm39)	Y677F	probably damaging	Het
Spinkl	A	G	18: 44,301,213 (GRCm39)	Y42H	probably damaging	Het
Srsf6	T	C	2: 162,774,782 (GRCm39)	F102L	probably benign	Het
Sstr3	T	C	15: 78,424,717 (GRCm39)	E10G	probably benign	Het
Tekt3	A	T	11: 62,985,486 (GRCm39)	I431F	probably damaging	Het
Trio	C	T	15: 27,855,025 (GRCm39)	R778H	possibly damaging	Het
Ush2a	T	A	1: 188,282,110 (GRCm39)	V1875D	probably damaging	Het
Vmn2r29	A	C	7: 7,234,441 (GRCm39)	I815S	probably damaging	Het
Vmn2r78	A	T	7: 86,603,552 (GRCm39)	K577*	probably null	Het
Vps26c	A	C	16: 94,299,928 (GRCm39)	N275K	probably damaging	Het
Yes1	G	A	5: 32,802,430 (GRCm39)	R115Q	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
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
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'- GATCACAATCGTCTGTGGGAGG -3'
(R):5'- GCCCTGAGTTTCCTGTGTAG -3'

Sequencing Primer
(F):5'- CAGCTGGGTGCAACTGTG -3'
(R):5'- CCTGAGTTTCCTGTGTAGCTTTCTG -3'

Posted On

2019-10-24