Mutagenetix > Incidental Mutation

Incidental Mutation 'R5090:Mmp2'

387697

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

042679-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

R5090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93553920-93580049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93579202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 97 (F97S)

Ref Sequence

ENSEMBL: ENSMUSP00000147838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034187] [ENSMUST00000046290] [ENSMUST00000209265] [ENSMUST00000210099] [ENSMUST00000211567]

AlphaFold

P33434

Predicted Effect

probably damaging
Transcript: ENSMUST00000034187
AA Change: F633S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: F633S

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 benign
Transcript: ENSMUST00000046290

SMART Domains

Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
low complexity region	35	45	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
PlsC	140	251	2.78e-22	SMART
Blast:PlsC	284	326	3e-19	BLAST
EFh	395	423	4.49e-4	SMART
EFh	432	460	6.11e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130471

Predicted Effect

probably benign
Transcript: ENSMUST00000209265

Predicted Effect

probably benign
Transcript: ENSMUST00000210099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211308

Predicted Effect

probably damaging
Transcript: ENSMUST00000211567
AA Change: F97S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211691

Meta Mutation Damage Score

0.9501

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,984,422 (GRCm39)	S1168G	probably damaging	Het
Acsf2	A	T	11: 94,462,095 (GRCm39)		probably null	Het
Ankk1	G	T	9: 49,333,063 (GRCm39)	S140R	probably damaging	Het
Ash1l	G	T	3: 88,960,184 (GRCm39)	K2305N	probably damaging	Het
Asnsd1	C	T	1: 53,391,563 (GRCm39)		probably benign	Het
Atxn7l1	T	C	12: 33,376,077 (GRCm39)	S51P	probably damaging	Het
Ccdc88c	A	G	12: 100,920,439 (GRCm39)	L394P	probably damaging	Het
Cd200r1	T	A	16: 44,609,924 (GRCm39)	S48T	possibly damaging	Het
Cemip	T	C	7: 83,591,343 (GRCm39)	E1243G	probably damaging	Het
Cep192	T	A	18: 67,993,617 (GRCm39)	H1977Q	possibly damaging	Het
Cep250	T	C	2: 155,818,324 (GRCm39)	L833P	probably damaging	Het
Chd9	C	A	8: 91,753,462 (GRCm39)	Y1818*	probably null	Het
Clca3a1	C	A	3: 144,443,633 (GRCm39)	V706L	probably benign	Het
Cntln	T	C	4: 84,865,830 (GRCm39)	V162A	probably damaging	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cux1	T	A	5: 136,342,054 (GRCm39)	N446I	possibly damaging	Het
Dlg1	G	T	16: 31,656,902 (GRCm39)	G599W	probably damaging	Het
Dock7	C	T	4: 98,879,648 (GRCm39)	V969I	probably benign	Het
Ephb3	T	C	16: 21,033,237 (GRCm39)	C74R	probably damaging	Het
Fads6	T	A	11: 115,187,480 (GRCm39)	T72S	probably benign	Het
Fra10ac1	C	T	19: 38,202,873 (GRCm39)	R110Q	probably damaging	Het
Gdf3	T	A	6: 122,586,713 (GRCm39)	L71F	probably benign	Het
Gm6685	A	G	11: 28,289,253 (GRCm39)	Y188H	probably benign	Het
Gm6981	A	C	9: 51,914,142 (GRCm39)		noncoding transcript	Het
Gnpda1	T	C	18: 38,465,146 (GRCm39)	T157A	probably damaging	Het
Grap2	A	C	15: 80,522,683 (GRCm39)	N70H	possibly damaging	Het
Gvin3	T	A	7: 106,200,109 (GRCm39)		noncoding transcript	Het
Hdac5	G	A	11: 102,088,539 (GRCm39)	R887C	probably damaging	Het
Hectd3	T	A	4: 116,857,435 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,787,098 (GRCm39)	K162E	probably benign	Het
Inpp5e	A	T	2: 26,289,383 (GRCm39)		probably null	Het
Kifap3	A	G	1: 163,683,645 (GRCm39)	D442G	possibly damaging	Het
Lama3	A	G	18: 12,675,459 (GRCm39)	T1015A	possibly damaging	Het
Lcp2	T	A	11: 34,039,725 (GRCm39)	Y508*	probably null	Het
Map1b	G	T	13: 99,566,534 (GRCm39)	Y2062*	probably null	Het
Mipep	A	G	14: 61,039,748 (GRCm39)	D259G	possibly damaging	Het
Mrpl18	A	C	17: 13,132,697 (GRCm39)	M144R	probably damaging	Het
Nek9	A	G	12: 85,376,616 (GRCm39)		probably null	Het
Nmral1	A	T	16: 4,532,395 (GRCm39)	Y139N	probably damaging	Het
Notch4	T	C	17: 34,799,894 (GRCm39)	C952R	probably damaging	Het
Nsf	T	C	11: 103,801,404 (GRCm39)	N204D	probably benign	Het
P2rx4	A	T	5: 122,863,118 (GRCm39)	D197V	probably damaging	Het
Pak5	A	T	2: 135,929,338 (GRCm39)	I615N	probably damaging	Het
Parp10	T	C	15: 76,125,925 (GRCm39)	D421G	probably damaging	Het
Pcdha6	A	T	18: 37,101,770 (GRCm39)	D321V	probably benign	Het
Pkhd1	T	A	1: 20,270,981 (GRCm39)	I3191F	probably damaging	Het
Psmd4	T	C	3: 94,942,559 (GRCm39)	N7S	possibly damaging	Het
Ptprq	A	G	10: 107,361,950 (GRCm39)	V2084A	probably damaging	Het
Rab3gap1	A	G	1: 127,843,415 (GRCm39)	E263G	probably benign	Het
Rbm5	A	G	9: 107,637,511 (GRCm39)		probably benign	Het
Sacs	T	C	14: 61,442,702 (GRCm39)	F1583L	probably damaging	Het
Sel1l3	G	T	5: 53,357,388 (GRCm39)	H201Q	probably benign	Het
Shoc1	T	C	4: 59,111,108 (GRCm39)	T55A	unknown	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Trim55	A	G	3: 19,725,771 (GRCm39)	N313S	probably benign	Het
Usp17lb	A	T	7: 104,490,290 (GRCm39)	D212E	probably benign	Het
Xirp2	A	G	2: 67,355,814 (GRCm39)	E3525G	possibly damaging	Het
Zfp236	T	C	18: 82,637,006 (GRCm39)	T1379A	probably benign	Het
Zfp553	A	T	7: 126,834,659 (GRCm39)	E71D	probably damaging	Het
Znrf1	T	G	8: 112,265,035 (GRCm39)	F21V	probably benign	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
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'- TCCCTGGCTTAGAGGTACAG -3'
(R):5'- CTGAAGTCACCAGGTGAAGG -3'

Sequencing Primer
(F):5'- CCTGGCTTAGAGGTACAGCTACTAAG -3'
(R):5'- CTGGTTAACTACAGAGGAGGAC -3'

Posted On

2016-06-06