Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02165:Mmp2'

282682

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp2

Ensembl Gene

ENSMUSG00000031740

Gene Name

matrix metallopeptidase 2

Synonyms

Clg4a, 72kDa gelatinase, gelatinase A, 72kDa type IV collagenase, GelA, MMP-2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

IGL02165

Quality Score

Status

Chromosome

Chromosomal Location

93553920-93580049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93559847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 270 (K270R)

Ref Sequence

ENSEMBL: ENSMUSP00000034187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034187]

AlphaFold

P33434

Predicted Effect

probably null
Transcript: ENSMUST00000034187
AA Change: K270R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: K270R

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:PG_binding_1	43	97	2.4e-9	PFAM
ZnMc	115	447	1.06e-49	SMART
FN2	226	274	2.88e-25	SMART
FN2	284	332	5.17e-27	SMART
FN2	342	390	3.33e-30	SMART
HX	477	520	1.13e-4	SMART
HX	522	565	1.33e-10	SMART
HX	570	617	2.21e-16	SMART
HX	619	662	4.29e-5	SMART

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 that hydrolyzes collagens, gelatins, laminin, fibronectin and elastin. Mice lacking the encoded protein exhibit suppressed angiogenesis and attenuated features of human multicentric osteolysis with arthritis including abnormal skeletal and craniofacial development. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit slightly delayed growth, reduced neovascularization, retarded tumor progression, an exaggerated asthma response to allergens, and impaired branching morphogenesis of the mammary gland. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,904,586 (GRCm39)	M199K	possibly damaging	Het
Abo	C	A	2: 26,733,441 (GRCm39)	V255L	probably damaging	Het
Alas1	A	T	9: 106,115,982 (GRCm39)	M344K	probably damaging	Het
Ap1m1	A	G	8: 73,003,653 (GRCm39)	I118V	probably benign	Het
Ap5m1	A	T	14: 49,316,185 (GRCm39)	I252F	possibly damaging	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Atp13a4	T	C	16: 29,252,828 (GRCm39)	E706G	probably damaging	Het
Baz2a	C	A	10: 127,955,218 (GRCm39)	A775E	probably benign	Het
C3	A	T	17: 57,532,092 (GRCm39)	F210I	probably benign	Het
Casq1	A	G	1: 172,040,948 (GRCm39)	L280P	probably damaging	Het
Cebpz	A	G	17: 79,229,598 (GRCm39)	F919L	probably damaging	Het
Commd1b	A	T	11: 22,932,072 (GRCm39)		probably benign	Het
Dclre1c	T	A	2: 3,451,418 (GRCm39)		probably benign	Het
Dsc3	T	G	18: 20,116,709 (GRCm39)	M276L	probably benign	Het
Dync2i2	T	C	2: 29,922,172 (GRCm39)	T430A	probably benign	Het
Eftud2	A	G	11: 102,742,573 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,557,618 (GRCm39)	T310S	probably benign	Het
Ep300	A	G	15: 81,525,592 (GRCm39)	K1472R	probably benign	Het
Fbxl2	T	C	9: 113,847,099 (GRCm39)	D8G	probably benign	Het
Galnt5	T	A	2: 57,888,877 (GRCm39)	M159K	probably benign	Het
Hars2	T	A	18: 36,916,447 (GRCm39)	M1K	probably null	Het
Hk1	T	C	10: 62,117,667 (GRCm39)	T619A	probably damaging	Het
Ifi44	C	T	3: 151,455,067 (GRCm39)	V53M	probably damaging	Het
Ippk	T	A	13: 49,600,011 (GRCm39)	V339D	possibly damaging	Het
Kcnma1	G	T	14: 23,387,035 (GRCm39)	N875K	possibly damaging	Het
Kdm5a	T	A	6: 120,392,251 (GRCm39)	V991E	probably damaging	Het
Larp6	A	G	9: 60,620,595 (GRCm39)	E36G	probably benign	Het
Lonp2	A	T	8: 87,435,654 (GRCm39)	D210V	probably damaging	Het
Lrrc4c	G	A	2: 97,459,378 (GRCm39)	M1I	probably null	Het
Nexmif	C	T	X: 103,128,360 (GRCm39)	V1186I	probably benign	Het
Or11g2	A	G	14: 50,856,468 (GRCm39)	Y263C	probably damaging	Het
Or1x2	A	T	11: 50,918,470 (GRCm39)	I214F	probably benign	Het
Pld2	T	C	11: 70,446,503 (GRCm39)	L763P	probably damaging	Het
Pold1	A	T	7: 44,187,484 (GRCm39)	F644L	probably damaging	Het
Prrc2b	T	C	2: 32,104,652 (GRCm39)	S1377P	probably damaging	Het
Rps18-ps6	T	G	13: 97,896,648 (GRCm39)	K150T	probably benign	Het
Rttn	A	G	18: 89,061,165 (GRCm39)	D1111G	probably benign	Het
Slc27a5	A	G	7: 12,728,875 (GRCm39)	V130A	probably damaging	Het
Slfn8	T	C	11: 82,908,022 (GRCm39)	R174G	probably benign	Het
Slitrk6	G	A	14: 110,989,249 (GRCm39)	P153S	probably benign	Het
Sorcs3	T	C	19: 48,642,511 (GRCm39)	I388T	probably benign	Het
Star	A	T	8: 26,302,843 (GRCm39)	T262S	possibly damaging	Het
Strn	A	T	17: 78,995,049 (GRCm39)	W2R	probably damaging	Het
Tnmd	T	C	X: 132,763,701 (GRCm39)	S172P	probably damaging	Het
Togaram2	A	G	17: 72,004,861 (GRCm39)	K305R	probably benign	Het
Trhde	C	A	10: 114,428,066 (GRCm39)	W410L	probably damaging	Het
Trim5	C	T	7: 103,928,566 (GRCm39)	R125Q	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vmn1r80	T	A	7: 11,927,379 (GRCm39)	M163K	probably benign	Het
Wnk4	C	A	11: 101,166,117 (GRCm39)		probably benign	Het
Zfp277	T	A	12: 40,365,802 (GRCm39)	I430F	possibly damaging	Het
Zfp566	A	T	7: 29,777,255 (GRCm39)	C309S	probably damaging	Het
Zfp740	T	G	15: 102,121,109 (GRCm39)	F141V	possibly damaging	Het
Zfp87	T	A	13: 67,665,989 (GRCm39)	I158F	probably damaging	Het
Zswim3	C	A	2: 164,663,035 (GRCm39)	A505D	possibly damaging	Het

Other mutations in Mmp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00647:Mmp2	APN	8	93,557,312 (GRCm39)	missense	probably benign
IGL02424:Mmp2	APN	8	93,562,635 (GRCm39)	missense	probably damaging	1.00
IGL02478:Mmp2	APN	8	93,579,235 (GRCm39)	missense	possibly damaging	0.50
IGL03351:Mmp2	APN	8	93,565,970 (GRCm39)	missense	probably benign	0.00
R2012:Mmp2	UTSW	8	93,576,831 (GRCm39)	missense	probably benign	0.00
R2034:Mmp2	UTSW	8	93,563,540 (GRCm39)	missense	probably damaging	1.00
R2079:Mmp2	UTSW	8	93,576,817 (GRCm39)	missense	probably damaging	1.00
R5090:Mmp2	UTSW	8	93,579,202 (GRCm39)	missense	probably damaging	1.00
R5103:Mmp2	UTSW	8	93,558,413 (GRCm39)	nonsense	probably null
R5357:Mmp2	UTSW	8	93,559,780 (GRCm39)	missense	possibly damaging	0.73
R6902:Mmp2	UTSW	8	93,563,545 (GRCm39)	missense	probably damaging	0.97
R6925:Mmp2	UTSW	8	93,566,010 (GRCm39)	missense	probably damaging	1.00
R7057:Mmp2	UTSW	8	93,558,333 (GRCm39)	missense	probably damaging	1.00
R7229:Mmp2	UTSW	8	93,558,414 (GRCm39)	missense	probably damaging	1.00
R7316:Mmp2	UTSW	8	93,567,038 (GRCm39)	missense	probably benign
R7332:Mmp2	UTSW	8	93,576,780 (GRCm39)	missense	probably damaging	1.00
R7397:Mmp2	UTSW	8	93,562,755 (GRCm39)	missense	possibly damaging	0.91
R7549:Mmp2	UTSW	8	93,563,594 (GRCm39)	missense	probably null	1.00
R7585:Mmp2	UTSW	8	93,563,564 (GRCm39)	missense	probably damaging	1.00
R7694:Mmp2	UTSW	8	93,558,358 (GRCm39)	missense	possibly damaging	0.76
R7814:Mmp2	UTSW	8	93,576,798 (GRCm39)	missense	probably benign	0.03
R8536:Mmp2	UTSW	8	93,557,253 (GRCm39)	missense	probably damaging	1.00
R9647:Mmp2	UTSW	8	93,567,114 (GRCm39)	missense	probably damaging	1.00
X0065:Mmp2	UTSW	8	93,554,367 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16