Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03001:Mmp15'

407356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95368217 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 240 (S240P)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

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

AlphaFold

O54732

Predicted Effect

probably damaging
Transcript: ENSMUST00000034243
AA Change: S240P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: S240P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212235

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,497,842 (GRCm38)	I9T	probably damaging	Het
Acan	A	C	7: 79,111,294 (GRCm38)	D1918A	probably damaging	Het
Ahcy	C	A	2: 155,064,828 (GRCm38)	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844 (GRCm38)	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602 (GRCm38)	M53L	probably benign	Het
Aqr	T	C	2: 114,146,919 (GRCm38)	D363G	probably benign	Het
Asxl3	A	G	18: 22,517,398 (GRCm38)	R815G	probably damaging	Het
Atf4	T	A	15: 80,256,657 (GRCm38)	W83R	probably damaging	Het
Baz1a	A	T	12: 54,923,111 (GRCm38)	M587K	possibly damaging	Het
Cactin	T	A	10: 81,325,734 (GRCm38)	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,725,079 (GRCm38)	S95G	probably benign	Het
Cbwd1	T	C	19: 24,922,638 (GRCm38)	K301E	probably benign	Het
Cd1d1	C	T	3: 86,998,161 (GRCm38)	S175N	probably benign	Het
Chd4	C	A	6: 125,101,566 (GRCm38)	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,333,634 (GRCm38)		probably null	Het
Cntnap5c	G	A	17: 58,055,639 (GRCm38)	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,633,673 (GRCm38)	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,807,744 (GRCm38)	D238V	unknown	Het
Cuedc1	T	C	11: 88,182,489 (GRCm38)	V160A	probably benign	Het
Depdc5	T	C	5: 32,945,090 (GRCm38)	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,149,140 (GRCm38)	D1338G	probably benign	Het
Dpyd	T	C	3: 118,917,242 (GRCm38)	V433A	probably benign	Het
Epb41l5	T	C	1: 119,617,644 (GRCm38)	H179R	probably damaging	Het
Fbf1	T	C	11: 116,165,886 (GRCm38)		probably benign	Het
Flnb	T	C	14: 7,934,680 (GRCm38)	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,990,624 (GRCm38)		probably benign	Het
Grin2b	C	T	6: 135,739,115 (GRCm38)	V735M	probably damaging	Het
Itpr3	T	G	17: 27,089,612 (GRCm38)		probably benign	Het
Lingo4	C	T	3: 94,402,396 (GRCm38)	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,927,889 (GRCm38)	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,015,993 (GRCm38)	L342P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747 (GRCm38)	N95K	probably benign	Het
Nms	C	T	1: 38,941,912 (GRCm38)	P60S	probably benign	Het
Npas3	A	T	12: 53,501,192 (GRCm38)	Y77F	probably damaging	Het
Olfr1158	T	A	2: 87,990,149 (GRCm38)	Y13N	probably benign	Het
Olfr1173	T	A	2: 88,274,845 (GRCm38)	D68V	probably damaging	Het
Olfr1412	T	A	1: 92,588,551 (GRCm38)	S74T	probably damaging	Het
Olfr320	T	G	11: 58,683,876 (GRCm38)	M1R	probably null	Het
Olfr561	G	T	7: 102,775,253 (GRCm38)	C243F	probably damaging	Het
Olfr926	A	G	9: 38,878,078 (GRCm38)	M301V	probably benign	Het
Picalm	T	C	7: 90,182,246 (GRCm38)	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,558,004 (GRCm38)	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,244,326 (GRCm38)	M286I	probably benign	Het
Popdc2	A	T	16: 38,369,519 (GRCm38)	Y176F	probably benign	Het
Psg21	A	T	7: 18,652,485 (GRCm38)	M192K	probably benign	Het
Psma1	C	A	7: 114,266,439 (GRCm38)	A219S	probably benign	Het
Rad21l	T	G	2: 151,668,469 (GRCm38)	H22P	probably damaging	Het
Rnf213	A	G	11: 119,479,941 (GRCm38)	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,821,626 (GRCm38)	V1609A	probably benign	Het
Sema3e	T	A	5: 14,241,043 (GRCm38)	S606T	probably benign	Het
Slc16a4	A	T	3: 107,311,542 (GRCm38)	R486S	possibly damaging	Het
Slc17a3	T	C	13: 23,856,784 (GRCm38)	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,353,815 (GRCm38)	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,337,053 (GRCm38)	I173V	probably benign	Het
Synpo2	T	C	3: 123,079,955 (GRCm38)	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,528,421 (GRCm38)	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,211,644 (GRCm38)	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,895 (GRCm38)	I631V	probably damaging	Het
Tor2a	C	A	2: 32,757,317 (GRCm38)	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,734,923 (GRCm38)	N19993S	probably benign	Het
Vps53	T	C	11: 76,138,324 (GRCm38)	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,814,669 (GRCm38)	W69R	probably damaging	Het
Zswim8	T	C	14: 20,714,391 (GRCm38)	S610P	probably damaging	Het

Other mutations in Mmp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Mmp15	APN	8	95,366,331 (GRCm38)	missense	probably benign	0.31
R0147:Mmp15	UTSW	8	95,372,317 (GRCm38)	missense	probably benign	0.18
R0148:Mmp15	UTSW	8	95,372,317 (GRCm38)	missense	probably benign	0.18
R0437:Mmp15	UTSW	8	95,370,772 (GRCm38)	missense	probably benign	0.04
R0465:Mmp15	UTSW	8	95,367,998 (GRCm38)	missense	probably damaging	1.00
R0548:Mmp15	UTSW	8	95,372,351 (GRCm38)	missense	probably damaging	1.00
R0574:Mmp15	UTSW	8	95,365,401 (GRCm38)	missense	possibly damaging	0.73
R0685:Mmp15	UTSW	8	95,372,134 (GRCm38)	missense	possibly damaging	0.81
R0763:Mmp15	UTSW	8	95,368,228 (GRCm38)	missense	probably benign	0.01
R1341:Mmp15	UTSW	8	95,372,303 (GRCm38)	missense	probably benign	0.03
R1428:Mmp15	UTSW	8	95,369,562 (GRCm38)	missense	probably benign	0.34
R1840:Mmp15	UTSW	8	95,365,420 (GRCm38)	missense	probably damaging	1.00
R2061:Mmp15	UTSW	8	95,370,779 (GRCm38)	missense	possibly damaging	0.91
R2219:Mmp15	UTSW	8	95,370,173 (GRCm38)	missense	probably benign	0.38
R4760:Mmp15	UTSW	8	95,368,196 (GRCm38)	missense	possibly damaging	0.61
R4762:Mmp15	UTSW	8	95,372,330 (GRCm38)	missense	probably benign	0.00
R5233:Mmp15	UTSW	8	95,371,068 (GRCm38)	missense	probably benign	0.08
R5394:Mmp15	UTSW	8	95,366,404 (GRCm38)	missense	probably damaging	0.96
R5502:Mmp15	UTSW	8	95,368,184 (GRCm38)	missense	possibly damaging	0.96
R5543:Mmp15	UTSW	8	95,368,101 (GRCm38)	missense	possibly damaging	0.85
R6027:Mmp15	UTSW	8	95,372,176 (GRCm38)	missense	probably benign	0.00
R6341:Mmp15	UTSW	8	95,365,463 (GRCm38)	critical splice donor site	probably null
R6720:Mmp15	UTSW	8	95,365,314 (GRCm38)	missense	probably benign	0.22
R7788:Mmp15	UTSW	8	95,368,148 (GRCm38)	missense	probably damaging	1.00
R8033:Mmp15	UTSW	8	95,367,962 (GRCm38)	missense	probably benign	0.01
R8679:Mmp15	UTSW	8	95,366,354 (GRCm38)	missense	possibly damaging	0.83
R8791:Mmp15	UTSW	8	95,369,660 (GRCm38)	nonsense	probably null
R9028:Mmp15	UTSW	8	95,369,688 (GRCm38)	missense	probably benign	0.01
R9227:Mmp15	UTSW	8	95,366,331 (GRCm38)	missense	probably benign	0.06
R9230:Mmp15	UTSW	8	95,366,331 (GRCm38)	missense	probably benign	0.06
R9350:Mmp15	UTSW	8	95,366,374 (GRCm38)	missense	probably damaging	0.97
R9632:Mmp15	UTSW	8	95,372,103 (GRCm38)	critical splice acceptor site	probably null
R9695:Mmp15	UTSW	8	95,370,786 (GRCm38)	missense	possibly damaging	0.48

Posted On

2016-08-02