Mutagenetix > Incidental Mutation

Incidental Mutation 'R9350:Mmp15'

708022

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95366374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 127 (R127H)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034243]

AlphaFold

O54732

Predicted Effect

probably damaging
Transcript: ENSMUST00000034243
AA Change: R127H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: R127H

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:PG_binding_1	42	102	3.2e-13	PFAM
ZnMc	131	301	5.31e-59	SMART
low complexity region	306	353	N/A	INTRINSIC
HX	370	413	5.92e-8	SMART
HX	415	459	2.31e-10	SMART
HX	462	508	2.98e-13	SMART
HX	510	555	2.01e-10	SMART
Pfam:DUF3377	586	657	1.2e-32	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. A deficiency of the encoded protein in mice is compatible with normal development and postnatal growth. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 43,569,632	M274L	probably benign	Het
Adarb1	T	A	10: 77,322,433	N60I	possibly damaging	Het
Adgrv1	T	A	13: 81,506,155	N2919I	probably damaging	Het
Adora3	C	T	3: 105,907,297	T121M	possibly damaging	Het
Arhgap19	A	T	19: 41,773,127	F466Y	probably benign	Het
Arih2	C	G	9: 108,611,739	R260P	probably damaging	Het
Atxn7l1	C	T	12: 33,367,316	T492I	probably benign	Het
B3galnt2	T	C	13: 13,995,808	S248P	probably damaging	Het
Casp2	T	C	6: 42,269,398	V230A	probably benign	Het
Creb3l1	C	T	2: 91,991,886		probably null	Het
Ctnnbl1	G	A	2: 157,809,525	G240E	possibly damaging	Het
Dennd2c	T	C	3: 103,131,992	L152P	possibly damaging	Het
Dhx16	T	A	17: 35,889,311	F874Y	probably damaging	Het
Dnah14	A	T	1: 181,734,804	Y2643F	possibly damaging	Het
Dnah2	C	A	11: 69,493,247	V1048L	probably benign	Het
Dnah7a	T	C	1: 53,397,148	I4012V	probably benign	Het
Duox2	G	A	2: 122,285,248	R1002*	probably null	Het
Ears2	T	A	7: 122,044,563	K391*	probably null	Het
Eif4e	T	C	3: 138,553,709	V176A	probably benign	Het
Erbb4	T	A	1: 68,290,479	I626L	probably benign	Het
Fam171a1	C	T	2: 3,225,000	T390I	probably benign	Het
Fam187b	A	G	7: 30,977,612	E182G	possibly damaging	Het
Fam204a	A	G	19: 60,221,253	V15A	probably benign	Het
Fscn3	C	T	6: 28,430,433	R201*	probably null	Het
Fzd6	A	G	15: 39,031,648	D403G	probably damaging	Het
Gars	G	A	6: 55,052,264	A210T	probably null	Het
Gmcl1	A	T	6: 86,700,587	I428N	probably damaging	Het
Gmip	T	A	8: 69,811,182	I92N	probably damaging	Het
Il17rc	G	A	6: 113,479,087	V298I	probably damaging	Het
Kifap3	A	G	1: 163,783,061	I37V	probably benign	Het
Marf1	T	C	16: 14,145,925	K505E	probably damaging	Het
Masp2	A	T	4: 148,607,939		probably null	Het
Nrd1	A	G	4: 109,032,461	T402A	possibly damaging	Het
Olfr731	T	A	14: 50,237,950	I312L	probably benign	Het
Olfr934	A	T	9: 38,982,785	N86K	probably benign	Het
Papln	A	T	12: 83,786,864	I1185F	probably damaging	Het
Pcdhgb1	A	G	18: 37,681,652	N399D	probably benign	Het
Pcdhgb6	T	A	18: 37,743,819	S527T	probably benign	Het
Phkb	T	A	8: 86,016,864	Y530*	probably null	Het
Pira2	A	G	7: 3,841,031	S581P	probably benign	Het
Pou4f3	A	T	18: 42,395,264	T91S	probably benign	Het
Prpf38a	A	G	4: 108,566,915	S296P	unknown	Het
Rnf213	T	C	11: 119,442,149	V2729A		Het
Rtl1	G	A	12: 109,590,792	Q1538*	probably null	Het
Sars2	T	C	7: 28,747,848	S224P	probably damaging	Het
Senp8	A	G	9: 59,737,822	V17A	probably benign	Het
Serpinb13	T	A	1: 106,995,832	L89*	probably null	Het
Sh3bp2	T	A	5: 34,561,109		probably null	Het
Shank2	A	G	7: 144,407,208	T254A	probably benign	Het
Smdt1	A	T	15: 82,347,303	E12D	probably benign	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Svs1	A	T	6: 48,988,326	N423Y	probably damaging	Het
Taar2	A	G	10: 23,941,447	N295S	probably damaging	Het
Trim24	A	G	6: 37,915,273	Q247R	probably damaging	Het
Trpc4	T	A	3: 54,302,189	N658K	probably damaging	Het
Ube2e1	T	C	14: 18,284,348	D137G	probably damaging	Het
Ubn1	T	A	16: 5,081,558	H1055Q	probably benign	Het
Vmn1r235	A	G	17: 21,261,928	T172A	probably benign	Het
Vps13d	A	G	4: 145,155,763	F1087L		Het
Xirp2	T	C	2: 67,519,309	S3283P	probably damaging	Het
Zeb2	C	A	2: 44,997,146	S633I	possibly damaging	Het

Other mutations in Mmp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Mmp15	APN	8	95366331	missense	probably benign	0.31
IGL03001:Mmp15	APN	8	95368217	missense	probably damaging	0.97
R0147:Mmp15	UTSW	8	95372317	missense	probably benign	0.18
R0148:Mmp15	UTSW	8	95372317	missense	probably benign	0.18
R0437:Mmp15	UTSW	8	95370772	missense	probably benign	0.04
R0465:Mmp15	UTSW	8	95367998	missense	probably damaging	1.00
R0548:Mmp15	UTSW	8	95372351	missense	probably damaging	1.00
R0574:Mmp15	UTSW	8	95365401	missense	possibly damaging	0.73
R0685:Mmp15	UTSW	8	95372134	missense	possibly damaging	0.81
R0763:Mmp15	UTSW	8	95368228	missense	probably benign	0.01
R1341:Mmp15	UTSW	8	95372303	missense	probably benign	0.03
R1428:Mmp15	UTSW	8	95369562	missense	probably benign	0.34
R1840:Mmp15	UTSW	8	95365420	missense	probably damaging	1.00
R2061:Mmp15	UTSW	8	95370779	missense	possibly damaging	0.91
R2219:Mmp15	UTSW	8	95370173	missense	probably benign	0.38
R4760:Mmp15	UTSW	8	95368196	missense	possibly damaging	0.61
R4762:Mmp15	UTSW	8	95372330	missense	probably benign	0.00
R5233:Mmp15	UTSW	8	95371068	missense	probably benign	0.08
R5394:Mmp15	UTSW	8	95366404	missense	probably damaging	0.96
R5502:Mmp15	UTSW	8	95368184	missense	possibly damaging	0.96
R5543:Mmp15	UTSW	8	95368101	missense	possibly damaging	0.85
R6027:Mmp15	UTSW	8	95372176	missense	probably benign	0.00
R6341:Mmp15	UTSW	8	95365463	critical splice donor site	probably null
R6720:Mmp15	UTSW	8	95365314	missense	probably benign	0.22
R7788:Mmp15	UTSW	8	95368148	missense	probably damaging	1.00
R8033:Mmp15	UTSW	8	95367962	missense	probably benign	0.01
R8679:Mmp15	UTSW	8	95366354	missense	possibly damaging	0.83
R8791:Mmp15	UTSW	8	95369660	nonsense	probably null
R9028:Mmp15	UTSW	8	95369688	missense	probably benign	0.01
R9227:Mmp15	UTSW	8	95366331	missense	probably benign	0.06
R9230:Mmp15	UTSW	8	95366331	missense	probably benign	0.06
R9632:Mmp15	UTSW	8	95372103	critical splice acceptor site	probably null
R9695:Mmp15	UTSW	8	95370786	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- GGAATCTCTTTACCCACTATTCTGG -3'
(R):5'- ACACGTGACAGTGACCCATC -3'

Sequencing Primer
(F):5'- TGGAAGCCAGAGTCTCCCAC -3'
(R):5'- AGTGACCCATCTTTCCCTGGAG -3'

Posted On

2022-04-18