Mutagenetix > Incidental Mutation

Incidental Mutation 'R2079:Mmp2'

229356

Institutional Source

Beutler Lab

Gene Symbol

Mmp2

Ensembl Gene

ENSMUSG00000031740

Gene Name

matrix metallopeptidase 2

Synonyms

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

MMRRC Submission

040084-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R2079 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93553920-93580049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93576817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 77 (N77K)

Ref Sequence

ENSEMBL: ENSMUSP00000147838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034187] [ENSMUST00000211567]

AlphaFold

P33434

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034187
AA Change: N613K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: N613K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211308

Predicted Effect

probably damaging
Transcript: ENSMUST00000211567
AA Change: N77K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211691

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	T	13: 104,598,746 (GRCm39)	R862S	probably benign	Het
Aldoa	T	C	7: 126,396,076 (GRCm39)	D164G	probably null	Het
Ankle2	T	C	5: 110,392,371 (GRCm39)	V459A	probably damaging	Het
Atp11a	A	G	8: 12,907,902 (GRCm39)	Y482C	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Cfap65	G	A	1: 74,956,358 (GRCm39)	R1074C	probably benign	Het
Ciart	G	T	3: 95,786,350 (GRCm39)	H242N	probably damaging	Het
Cidec	T	A	6: 113,402,615 (GRCm39)	M220L	probably benign	Het
Clca3a1	A	G	3: 144,713,534 (GRCm39)	I699T	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,207 (GRCm39)	D401G	probably benign	Het
Cyp2j6	C	A	4: 96,419,962 (GRCm39)	L256F	possibly damaging	Het
Ddr2	A	T	1: 169,832,345 (GRCm39)	Y148*	probably null	Het
Depdc5	T	A	5: 33,104,018 (GRCm39)	I373N	possibly damaging	Het
Dpp10	A	T	1: 123,360,721 (GRCm39)	M268K	probably damaging	Het
Fam118b	C	A	9: 35,134,960 (GRCm39)	V216F	possibly damaging	Het
Fancd2	T	C	6: 113,532,148 (GRCm39)	V487A	probably damaging	Het
Fhad1	T	A	4: 141,718,513 (GRCm39)	R147*	probably null	Het
Flt3	A	G	5: 147,291,893 (GRCm39)	S544P	probably damaging	Het
Frem3	C	A	8: 81,341,732 (GRCm39)	Q1342K	probably benign	Het
Garin3	T	G	11: 46,295,934 (GRCm39)	V102G	probably benign	Het
Gimap4	T	C	6: 48,667,881 (GRCm39)	M84T	possibly damaging	Het
Gm20481	T	C	17: 35,189,196 (GRCm39)	K569R	probably benign	Het
Gm4871	A	C	5: 144,966,741 (GRCm39)	D247E	possibly damaging	Het
Gm5141	A	T	13: 62,922,424 (GRCm39)	N248K	probably benign	Het
Gulo	A	G	14: 66,227,832 (GRCm39)	Y367H	probably damaging	Het
Hap1	T	C	11: 100,244,572 (GRCm39)	E120G	probably damaging	Het
Heatr3	T	A	8: 88,868,404 (GRCm39)	N51K	probably damaging	Het
Hipk2	T	C	6: 38,795,720 (GRCm39)	D183G	probably damaging	Het
Hnrnpll	T	A	17: 80,342,806 (GRCm39)	T439S	probably benign	Het
Hoxd3	A	C	2: 74,574,610 (GRCm39)	E85D	probably damaging	Het
Ipo8	A	T	6: 148,690,660 (GRCm39)	M694K	probably damaging	Het
Jag2	A	G	12: 112,883,997 (GRCm39)	I194T	probably damaging	Het
Jrkl	A	T	9: 13,244,864 (GRCm39)	F266I	probably damaging	Het
Kcnt1	A	G	2: 25,790,260 (GRCm39)	I436V	possibly damaging	Het
Kdm3b	A	T	18: 34,936,570 (GRCm39)	D284V	probably damaging	Het
Khdrbs2	A	G	1: 32,506,955 (GRCm39)	T200A	probably benign	Het
Kmt2c	T	C	5: 25,557,278 (GRCm39)	D1143G	possibly damaging	Het
Kremen1	G	GGGGT	11: 5,151,794 (GRCm39)		probably null	Het
Lama2	A	C	10: 27,245,049 (GRCm39)	I244S	probably damaging	Het
Lama5	G	A	2: 179,867,301 (GRCm39)	P99S	possibly damaging	Het
Lrrc30	A	T	17: 67,938,875 (GRCm39)	L235Q	possibly damaging	Het
Man2b2	C	T	5: 36,971,716 (GRCm39)	V667M	possibly damaging	Het
Myo1a	A	G	10: 127,556,482 (GRCm39)	E1009G	probably benign	Het
Ndst1	A	G	18: 60,828,581 (GRCm39)	Y658H	probably damaging	Het
Nlrp10	A	G	7: 108,524,835 (GRCm39)	L215P	possibly damaging	Het
Nrbp1	T	C	5: 31,408,417 (GRCm39)	F526L	probably benign	Het
Or10p21	T	C	10: 128,847,898 (GRCm39)	V248A	probably damaging	Het
Or51t4	T	A	7: 102,598,702 (GRCm39)	F333L	probably benign	Het
Padi2	T	C	4: 140,660,507 (GRCm39)	L329P	probably damaging	Het
Pcdhb20	A	G	18: 37,638,224 (GRCm39)	Q250R	probably benign	Het
Pcdhb3	T	A	18: 37,436,362 (GRCm39)	L776Q	possibly damaging	Het
Pik3cb	A	T	9: 98,942,257 (GRCm39)	M700K	probably benign	Het
Pla2g6	C	T	15: 79,197,194 (GRCm39)	V127M	probably damaging	Het
Rabgef1	T	C	5: 130,219,776 (GRCm39)	S80P	probably damaging	Het
Sema3a	C	T	5: 13,501,098 (GRCm39)	T47I	possibly damaging	Het
Sik2	C	T	9: 50,818,706 (GRCm39)		probably null	Het
Sin3a	T	C	9: 56,996,807 (GRCm39)	V112A	probably benign	Het
Slc26a6	G	A	9: 108,736,257 (GRCm39)	A472T	probably damaging	Het
Syne1	A	G	10: 5,311,502 (GRCm39)	V561A	probably benign	Het
Syt16	C	T	12: 74,285,073 (GRCm39)	T422I	probably damaging	Het
Tlr11	A	T	14: 50,598,437 (GRCm39)	H141L	probably damaging	Het
Tmem252	A	T	19: 24,655,017 (GRCm39)	E131D	probably benign	Het
Trim55	T	G	3: 19,698,830 (GRCm39)	L20V	probably damaging	Het
Uqcrfs1	A	T	13: 30,725,291 (GRCm39)	V83D	probably benign	Het
Utf1	C	T	7: 139,524,808 (GRCm39)	R309*	probably null	Het
Uxs1	T	C	1: 43,804,133 (GRCm39)	T261A	probably damaging	Het
Vmn1r24	T	C	6: 57,932,655 (GRCm39)	I288V	probably benign	Het
Vmn1r80	A	T	7: 11,927,121 (GRCm39)	D77V	probably damaging	Het
Vmn2r74	T	G	7: 85,606,383 (GRCm39)	H321P	probably benign	Het
Zfp638	T	C	6: 83,930,371 (GRCm39)		probably null	Het
Zwilch	T	A	9: 64,060,856 (GRCm39)	Q332L	probably damaging	Het
Zwilch	G	T	9: 64,060,857 (GRCm39)	Q332K	probably 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
IGL02165:Mmp2	APN	8	93,559,847 (GRCm39)	missense	probably null	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGGCCACGTCTTATTCCC -3'
(R):5'- TCTAGGTCTTACAGCCTGGAG -3'

Sequencing Primer
(F):5'- GGCCACGTCTTATTCCCTGGAC -3'
(R):5'- TGCCTTCCCAGCACTGAG -3'

Posted On

2014-09-17