Mutagenetix > Incidental Mutation

Incidental Mutation 'R7204:Adam15'

560426

Institutional Source

Beutler Lab

Gene Symbol

Adam15

Ensembl Gene

ENSMUSG00000028041

Gene Name

ADAM metallopeptidase domain 15

Synonyms

metargidin, MDC15

MMRRC Submission

045282-MU

Accession Numbers

Essential gene?

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

Stock #

R7204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89246947-89257589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89254244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 184 (H184Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029676 (fasta)

Gene Model

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

AlphaFold

O88839

Predicted Effect

probably benign
Transcript: ENSMUST00000029676
AA Change: H184Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
AA Change: H184Q

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
AA Change: H184Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
AA Change: H184Q

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
AA Change: H184Q

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103070
Gene: ENSMUSG00000028041
AA Change: H184Q

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
AA Change: H184Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
AA Change: H184Q

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 benign
Transcript: ENSMUST00000184651
AA Change: H184Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
AA Change: H184Q

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,730,636 (GRCm39)	S227P	probably damaging	Het
Acot6	A	G	12: 84,153,301 (GRCm39)	H181R	probably benign	Het
Agl	A	G	3: 116,587,469 (GRCm39)	F29L	probably benign	Het
Ak7	A	G	12: 105,708,502 (GRCm39)	Y319C	probably benign	Het
Ano8	C	A	8: 71,931,669 (GRCm39)	V813L	probably benign	Het
Apbb2	T	G	5: 66,608,946 (GRCm39)	K234Q	probably damaging	Het
Arfgef3	A	T	10: 18,522,210 (GRCm39)	D605E	probably damaging	Het
Bfsp2	C	A	9: 103,309,865 (GRCm39)	R340L	probably damaging	Het
Birc6	C	A	17: 74,947,103 (GRCm39)	P2956T	probably damaging	Het
C1rb	T	C	6: 124,554,386 (GRCm39)	I389T	probably benign	Het
Ccdc146	A	G	5: 21,513,624 (GRCm39)	F498S	probably benign	Het
Cdc14b	A	C	13: 64,358,012 (GRCm39)	V361G	possibly damaging	Het
Cdc25b	A	T	2: 131,033,552 (GRCm39)	I164F	probably damaging	Het
Col18a1	A	G	10: 76,921,110 (GRCm39)	S297P	unknown	Het
Col3a1	A	T	1: 45,361,578 (GRCm39)	I117F	unknown	Het
Cox4i2	AG	A	2: 152,602,618 (GRCm39)		probably null	Het
Crybg3	C	A	16: 59,379,253 (GRCm39)	G667V	probably benign	Het
Ctc1	A	G	11: 68,920,567 (GRCm39)	D623G	probably damaging	Het
Dennd1a	A	T	2: 37,929,215 (GRCm39)	H152Q	probably damaging	Het
Dgke	G	A	11: 88,932,306 (GRCm39)	P495S	probably damaging	Het
Dll3	A	T	7: 27,998,330 (GRCm39)	C212S	possibly damaging	Het
Dll4	A	T	2: 119,159,054 (GRCm39)	S235C	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,503,442 (GRCm39)	T1599S	probably damaging	Het
Elavl1	G	A	8: 4,361,712 (GRCm39)	T20M	probably damaging	Het
Epha3	T	C	16: 63,472,695 (GRCm39)	T397A	probably benign	Het
Fanca	A	T	8: 124,013,216 (GRCm39)	I859N	probably damaging	Het
Fzd1	A	T	5: 4,805,980 (GRCm39)	V534D	probably damaging	Het
Glmp	A	G	3: 88,233,917 (GRCm39)	Y258C	probably damaging	Het
Gm9195	G	A	14: 72,711,626 (GRCm39)	P329S	probably damaging	Het
Gpt	A	G	15: 76,583,199 (GRCm39)	R379G	probably benign	Het
Gsdmc2	T	C	15: 63,696,903 (GRCm39)	T423A	probably damaging	Het
Hemgn	T	C	4: 46,397,054 (GRCm39)	K61E	possibly damaging	Het
Ikzf4	A	T	10: 128,479,759 (GRCm39)	S56T	possibly damaging	Het
Jak1	T	C	4: 101,032,332 (GRCm39)	T425A	probably benign	Het
Jsrp1	T	C	10: 80,646,319 (GRCm39)	T80A	probably benign	Het
Klra9	T	A	6: 130,165,643 (GRCm39)	D124V	possibly damaging	Het
Lama5	A	T	2: 179,843,970 (GRCm39)	V397D	probably damaging	Het
Lrp2	A	G	2: 69,302,877 (GRCm39)	S2951P	probably benign	Het
Map7d1	A	G	4: 126,149,808 (GRCm39)		probably null	Het
Mcm6	A	T	1: 128,265,864 (GRCm39)	C636S	probably damaging	Het
Mia	T	C	7: 26,880,358 (GRCm39)	E39G	possibly damaging	Het
Mpeg1	T	A	19: 12,440,258 (GRCm39)	I572N	probably damaging	Het
Muc21	AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC	AGCTGGATACAGTGGTGGTC	17: 35,932,105 (GRCm39)		probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Mup5	A	G	4: 61,751,992 (GRCm39)	Y86H	probably damaging	Het
Nckap5	A	T	1: 125,954,104 (GRCm39)	V816D	probably benign	Het
Nfib	T	C	4: 82,215,052 (GRCm39)		probably null	Het
Nlrc5	T	A	8: 95,218,153 (GRCm39)	V1056D	possibly damaging	Het
Nynrin	G	C	14: 56,110,190 (GRCm39)	E1766Q	probably damaging	Het
Or7d9	A	T	9: 20,197,100 (GRCm39)	Y43F	probably benign	Het
Oxct1	T	A	15: 4,123,524 (GRCm39)	L328Q	probably damaging	Het
Pax5	T	A	4: 44,679,485 (GRCm39)	I187F	possibly damaging	Het
Pcdhb4	A	T	18: 37,442,292 (GRCm39)	D534V	probably damaging	Het
Pebp4	C	T	14: 70,085,046 (GRCm39)	P35S	probably benign	Het
Pkhd1l1	T	A	15: 44,386,949 (GRCm39)	V1274E	possibly damaging	Het
Plcz1	A	T	6: 139,956,150 (GRCm39)	V373D	probably benign	Het
Plxnb1	C	T	9: 108,929,243 (GRCm39)	T33I	probably damaging	Het
Prag1	T	C	8: 36,613,915 (GRCm39)	C1156R	probably benign	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Rbp4	G	A	19: 38,112,551 (GRCm39)	T138I	possibly damaging	Het
Semp2l2b	A	G	10: 21,943,785 (GRCm39)	L65P	probably damaging	Het
Slc12a1	A	T	2: 125,042,542 (GRCm39)	N733Y	possibly damaging	Het
Slc27a3	A	G	3: 90,297,033 (GRCm39)	V22A	probably benign	Het
Tcaf1	T	C	6: 42,651,973 (GRCm39)		probably null	Het
Tnc	T	C	4: 63,889,392 (GRCm39)		probably null	Het
Tspan31	A	T	10: 126,903,987 (GRCm39)	*211R	probably null	Het
Ttc17	A	T	2: 94,192,773 (GRCm39)	V86D	possibly damaging	Het
Ubr1	T	A	2: 120,734,558 (GRCm39)	N1114I	possibly damaging	Het
Ulk2	C	T	11: 61,674,457 (GRCm39)	G850R	probably benign	Het
Vmn1r13	T	A	6: 57,187,141 (GRCm39)	I100N	probably benign	Het
Zan	T	C	5: 137,426,240 (GRCm39)	D2512G	unknown	Het
Zc3h14	A	T	12: 98,737,615 (GRCm39)	N34I	probably damaging	Het
Zcwpw1	T	G	5: 137,810,346 (GRCm39)	L374R	probably damaging	Het
Zfp747l1	A	T	7: 126,983,518 (GRCm39)	I528K	possibly 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
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
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'- ATAGAGCTTTGGGCAGCACC -3'
(R):5'- TACCAGGGAAGAGGATCCACAC -3'

Sequencing Primer
(F):5'- CCTTCTCGGGTTGCTAGGAATAGC -3'
(R):5'- ATCCACACAGGCAGGGAGC -3'

Posted On

2019-06-26