Mutagenetix > Incidental Mutation

Incidental Mutation 'R7332:Mmp2'

569301

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

045425-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

R7332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93553920-93580049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93576780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 601 (D601G)

Ref Sequence

ENSEMBL: ENSMUSP00000034187 (fasta)

Gene Model

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

AlphaFold

P33434

Predicted Effect

probably damaging
Transcript: ENSMUST00000034187
AA Change: D601G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: D601G

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

probably damaging
Transcript: ENSMUST00000211567
AA Change: D65G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	A	G	19: 56,906,553 (GRCm39)	S449P	probably damaging	Het
Atp6v0c	A	C	17: 24,388,198 (GRCm39)	S21A	probably benign	Het
Cacna1e	T	C	1: 154,601,547 (GRCm39)	Y40C	possibly damaging	Het
Cdadc1	A	G	14: 59,813,213 (GRCm39)	I398T	possibly damaging	Het
Cfap44	T	A	16: 44,250,191 (GRCm39)	D756E	probably damaging	Het
Clcnkb	A	T	4: 141,141,243 (GRCm39)	L104Q	probably null	Het
Clk1	G	A	1: 58,451,853 (GRCm39)	H421Y	probably benign	Het
Cmpk2	A	T	12: 26,528,061 (GRCm39)	D426V	probably damaging	Het
Cmya5	A	G	13: 93,229,061 (GRCm39)	L2009S	possibly damaging	Het
Col5a2	C	G	1: 45,419,325 (GRCm39)	D1252H	probably damaging	Het
Coro1b	A	G	19: 4,199,356 (GRCm39)	K5R	probably benign	Het
Csmd2	A	G	4: 128,313,360 (GRCm39)	T1346A		Het
Csrp1	G	T	1: 135,667,149 (GRCm39)	W4L	probably benign	Het
Cyp3a25	A	G	5: 145,929,817 (GRCm39)	I184T	probably damaging	Het
Egfl7	C	A	2: 26,480,725 (GRCm39)	R128S	probably benign	Het
Fggy	A	T	4: 95,511,719 (GRCm39)	N157I	probably damaging	Het
Gldc	A	T	19: 30,093,926 (GRCm39)	L697Q	probably damaging	Het
Gm4952	T	A	19: 12,604,373 (GRCm39)	Y262N	probably damaging	Het
Gsap	T	A	5: 21,495,119 (GRCm39)	M821K	probably benign	Het
Hps1	T	C	19: 42,766,351 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,280,038 (GRCm39)		probably benign	Het
Igfbp7	G	A	5: 77,499,803 (GRCm39)	T220I	probably damaging	Het
Ints3	T	C	3: 90,322,819 (GRCm39)	Q137R	probably damaging	Het
Kcna6	A	G	6: 126,716,292 (GRCm39)	F199S	possibly damaging	Het
Kirrel1	T	C	3: 86,995,705 (GRCm39)	I410V	probably benign	Het
Llgl2	T	C	11: 115,739,125 (GRCm39)	V332A	probably damaging	Het
Lrrc27	A	G	7: 138,822,661 (GRCm39)	I517M	probably damaging	Het
Mas1	T	C	17: 13,061,106 (GRCm39)	T106A	probably benign	Het
Mast4	T	A	13: 102,887,932 (GRCm39)	Y1159F	possibly damaging	Het
Mycbp2	T	A	14: 103,434,793 (GRCm39)	I2217F	probably damaging	Het
Mycbp2	A	G	14: 103,393,889 (GRCm39)	S2891P	probably damaging	Het
Naip6	A	G	13: 100,437,209 (GRCm39)	V438A	possibly damaging	Het
Or4g17	A	G	2: 111,209,738 (GRCm39)	H131R	not run	Het
Pdf	T	C	8: 107,775,173 (GRCm39)	R20G	probably benign	Het
Pfdn2	T	C	1: 171,184,162 (GRCm39)	L47P	probably damaging	Het
Pik3c2g	C	A	6: 139,841,981 (GRCm39)	N795K		Het
Ppip5k1	A	T	2: 121,142,450 (GRCm39)	V1333D	probably damaging	Het
Pramel51	T	C	12: 88,143,187 (GRCm39)	T339A	possibly damaging	Het
Prss44	A	T	9: 110,644,530 (GRCm39)	I213F	probably damaging	Het
Rbm47	A	G	5: 66,183,557 (GRCm39)	Y349H	probably damaging	Het
Rcl1	A	T	19: 29,108,096 (GRCm39)	T253S	probably benign	Het
Rdh1	A	G	10: 127,595,754 (GRCm39)		probably benign	Het
Scn7a	C	T	2: 66,522,898 (GRCm39)	W935*	probably null	Het
Sec24b	T	C	3: 129,835,042 (GRCm39)	N52S	probably benign	Het
Serpinb5	A	T	1: 106,800,091 (GRCm39)	I94L	probably benign	Het
Setx	T	C	2: 29,036,638 (GRCm39)	V1041A	probably benign	Het
Slco3a1	G	A	7: 73,968,232 (GRCm39)	A496V	possibly damaging	Het
Spag5	T	A	11: 78,204,205 (GRCm39)	L486*	probably null	Het
Spink5	T	C	18: 44,115,317 (GRCm39)	I183T	probably damaging	Het
Srd5a1	T	C	13: 69,759,173 (GRCm39)	Y65C	probably benign	Het
Ssh2	T	A	11: 77,344,349 (GRCm39)	I778N	possibly damaging	Het
Sstr1	C	T	12: 58,260,172 (GRCm39)	S265L	probably damaging	Het
Syne2	T	A	12: 76,014,529 (GRCm39)		probably null	Het
Tctn1	A	T	5: 122,399,547 (GRCm39)	D92E	probably damaging	Het
Tiam2	A	G	17: 3,503,644 (GRCm39)	I940M	probably damaging	Het
Tmeff2	T	C	1: 51,018,599 (GRCm39)	W194R	unknown	Het
Tomm20	T	C	8: 127,663,903 (GRCm39)	T94A	probably benign	Het
Ucn2	A	G	9: 108,815,532 (GRCm39)	N98S	probably benign	Het
V1rd19	A	T	7: 23,702,743 (GRCm39)	I70L	probably benign	Het
Vmn1r18	A	G	6: 57,367,503 (GRCm39)	L17P	probably benign	Het
Vmn2r61	A	G	7: 41,909,534 (GRCm39)	T20A	probably benign	Het
Wdr59	G	A	8: 112,220,986 (GRCm39)	T182I		Het
Zfp40	A	T	17: 23,395,155 (GRCm39)	C477*	probably null	Het
Zfp68	A	G	5: 138,604,830 (GRCm39)	S498P	possibly damaging	Het
Zfp729b	T	C	13: 67,757,755 (GRCm39)		probably null	Het
Zfp846	T	G	9: 20,505,521 (GRCm39)	N460K	probably benign	Het
Zim1	T	C	7: 6,680,352 (GRCm39)	Y437C	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
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
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'- CACACTGGCTGTTGCTTTTAGG -3'
(R):5'- TGCAGGAGTGTGTGCCAAAG -3'

Sequencing Primer
(F):5'- GTCTCAAGCCATTCAATTAGGAGG -3'
(R):5'- GCCAAAGAGGAGCTGTTTTC -3'

Posted On

2019-09-13