Mutagenetix > Incidental Mutation

Incidental Mutation 'R8033:Mmp15'

618089

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

067470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95367962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 155 (N155Y)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

AlphaFold

O54732

Predicted Effect

probably benign
Transcript: ENSMUST00000034243
AA Change: N155Y

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: N155Y

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,036,522	I1335K	probably damaging	Het
Adgrb2	A	G	4: 130,019,012	E1277G	probably benign	Het
Agbl3	A	G	6: 34,839,494	T785A	possibly damaging	Het
Ahnak	T	C	19: 9,003,710	V786A	probably benign	Het
Armc2	A	G	10: 42,008,684	I87T	possibly damaging	Het
Asap2	T	C	12: 21,224,389	S373P	probably damaging	Het
Casd1	A	T	6: 4,619,773	I173F	probably benign	Het
Chd2	A	G	7: 73,435,880	Y1669H	probably damaging	Het
Clic3	A	G	2: 25,458,605	E199G	probably benign	Het
Cpa4	G	A	6: 30,590,800	V366I	probably benign	Het
Creg2	T	C	1: 39,650,627	Y105C	probably damaging	Het
Cyp20a1	T	C	1: 60,372,591	I266T	probably benign	Het
Dido1	T	C	2: 180,674,842	D685G	probably damaging	Het
Dopey2	C	G	16: 93,769,483	R1051G	probably benign	Het
Fam114a2	A	G	11: 57,507,507	S202P	probably damaging	Het
Fance	G	T	17: 28,313,685		probably benign	Het
Farsa	T	A	8: 84,867,569	L316Q	probably benign	Het
Fcrl6	T	C	1: 172,599,181	D66G	probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gh	A	T	11: 106,300,555	D154E	probably benign	Het
Gm11487	T	C	4: 73,403,092	N143D	probably benign	Het
Kmt2a	A	T	9: 44,845,470	V1160E	probably damaging	Het
Lct	T	C	1: 128,285,259	T1886A	probably benign	Het
Lrwd1	G	A	5: 136,123,225	L633F	probably damaging	Het
Mtf2	T	G	5: 108,087,085	C125G	probably damaging	Het
Muc16	A	T	9: 18,636,606	D6130E	probably benign	Het
Olfr1036	T	A	2: 86,074,875	I45N	possibly damaging	Het
Orc1	T	A	4: 108,605,564	Y613N	probably damaging	Het
Pak1	A	G	7: 97,886,383	N227S	probably benign	Het
Pex3	G	A	10: 13,531,280	Q306*	probably null	Het
Pld1	A	T	3: 28,029,210	M160L	probably benign	Het
Plekhh1	G	A	12: 79,070,936	R902H	probably benign	Het
Prp2	A	G	6: 132,600,428	H226R	unknown	Het
Rad21	T	G	15: 51,964,232	T578P	probably damaging	Het
Sp140	G	A	1: 85,620,094	V181I	probably benign	Het
Spen	A	G	4: 141,471,746	V3190A	probably benign	Het
Spg11	A	C	2: 122,086,951	C1011W	probably damaging	Het
Syngr3	G	A	17: 24,686,605	R132*	probably null	Het
Tbc1d10c	A	G	19: 4,188,014	F254L	possibly damaging	Het
Tcea1	T	A	1: 4,891,918	I176K	probably damaging	Het
Timm50	G	A	7: 28,306,833	A281V	possibly damaging	Het
Tmem144	C	T	3: 79,825,317	R218K	probably benign	Het
Upp2	A	G	2: 58,780,059	Y259C	probably damaging	Het
Vcan	A	G	13: 89,704,360	V827A	probably benign	Het
Vps41	T	A	13: 18,810,465	W161R	possibly damaging	Het
Zfp994	A	T	17: 22,200,684	I428N	probably 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
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
R9350:Mmp15	UTSW	8	95366374	missense	probably damaging	0.97
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'- TGAAAACGTAGGGCCGTATC -3'
(R):5'- CATCTGCGTCGAAATGGGTG -3'

Sequencing Primer
(F):5'- TTACTGGATGTGACAAGTTCTAATTC -3'
(R):5'- TAAGCGTGGGCCAGAAAGC -3'

Posted On

2020-01-23