Mutagenetix > Incidental Mutations

Incidental Mutation 'R6902:Mmp2'

538598

Institutional Source

Beutler Lab

Gene Symbol

Mmp2

Ensembl Gene

ENSMUSG00000031740

Gene Name

matrix metallopeptidase 2

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92827291-92853420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92836917 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 340 (V340M)

Ref Sequence

ENSEMBL: ENSMUSP00000034187 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034187
AA Change: V340M

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: V340M

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,488,144		probably benign	Het
9530053A07Rik	C	T	7: 28,137,213	R186C	probably damaging	Het
Abcc9	T	A	6: 142,679,227	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,689,587	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,538,555	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,115,545	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,816,289	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,042,951	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,201,028	Q101*	probably null	Het
Clstn2	A	T	9: 97,469,822	F517I	probably damaging	Het
Cog2	A	G	8: 124,546,691	K590E	probably damaging	Het
Coq9	G	A	8: 94,850,552	E182K	probably benign	Het
Focad	C	T	4: 88,230,476	R477C	unknown	Het
Gja10	G	T	4: 32,601,905	H160N	probably damaging	Het
Gm1673	G	A	5: 33,983,579		probably benign	Het
Gpr132	T	A	12: 112,852,210	Y332F	probably benign	Het
Herc2	A	G	7: 56,135,486	T1495A	probably benign	Het
Hivep3	T	A	4: 120,095,995	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,745,899	I190N	possibly damaging	Het
Igf1r	T	A	7: 68,004,163	C150S	probably damaging	Het
Ighv1-42	T	A	12: 114,937,535	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,179,040	I251F	probably benign	Het
Krt79	T	C	15: 101,931,879	N294S	probably benign	Het
Lama2	T	G	10: 26,981,629	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,459,813	C386G	probably benign	Het
Lrp2	T	C	2: 69,459,503	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,703,149	M344K	probably damaging	Het
Mier2	C	A	10: 79,540,839		probably benign	Het
Mrgprb3	T	A	7: 48,643,699	I35F	probably benign	Het
Myo5b	A	T	18: 74,676,685	I613F	possibly damaging	Het
Olfr299	T	A	7: 86,465,787	C125*	probably null	Het
Olfr585	A	T	7: 103,098,355	I205F	probably benign	Het
Olfr867	A	T	9: 20,055,374	L30M	possibly damaging	Het
Olfr948	C	A	9: 39,319,019	L198F	probably damaging	Het
Pan2	A	G	10: 128,315,637	T867A	probably benign	Het
Papolb	T	A	5: 142,528,151	H579L	probably benign	Het
Pcf11	C	A	7: 92,658,299	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,301,397	S524P	possibly damaging	Het
Pole3	T	C	4: 62,524,063		probably benign	Het
Prdm14	C	T	1: 13,122,421	V365I	probably benign	Het
Shank1	T	A	7: 44,356,815	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,666	I421V	possibly damaging	Het
Slc2a6	C	T	2: 27,023,160	V374M	probably benign	Het
Spata1	A	T	3: 146,475,323	N293K	possibly damaging	Het
Stk40	T	A	4: 126,137,812	D366E	probably benign	Het
Tas2r117	T	C	6: 132,803,325	L142S	probably damaging	Het
Tcrg-V1	T	C	13: 19,340,020	L2P	probably benign	Het
Tomm70a	T	C	16: 57,138,081	S266P	probably damaging	Het
Vipr2	A	T	12: 116,139,199	T310S	possibly damaging	Het
Vti1a	A	T	19: 55,499,241		probably null	Het
Zfp961	A	G	8: 71,968,678	K345R	probably damaging	Het

Other mutations in Mmp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00647:Mmp2	APN	8	92830684	missense	probably benign
IGL02165:Mmp2	APN	8	92833219	missense	probably null	1.00
IGL02424:Mmp2	APN	8	92836007	missense	probably damaging	1.00
IGL02478:Mmp2	APN	8	92852607	missense	possibly damaging	0.50
IGL03351:Mmp2	APN	8	92839342	missense	probably benign	0.00
R2012:Mmp2	UTSW	8	92850203	missense	probably benign	0.00
R2034:Mmp2	UTSW	8	92836912	missense	probably damaging	1.00
R2079:Mmp2	UTSW	8	92850189	missense	probably damaging	1.00
R5090:Mmp2	UTSW	8	92852574	missense	probably damaging	1.00
R5103:Mmp2	UTSW	8	92831785	nonsense	probably null
R5357:Mmp2	UTSW	8	92833152	missense	possibly damaging	0.73
R6925:Mmp2	UTSW	8	92839382	missense	probably damaging	1.00
R7057:Mmp2	UTSW	8	92831705	missense	probably damaging	1.00
R7229:Mmp2	UTSW	8	92831786	missense	probably damaging	1.00
R7316:Mmp2	UTSW	8	92840410	missense	probably benign
R7332:Mmp2	UTSW	8	92850152	missense	probably damaging	1.00
R7397:Mmp2	UTSW	8	92836127	missense	possibly damaging	0.91
R7549:Mmp2	UTSW	8	92836966	missense	probably null	1.00
R7585:Mmp2	UTSW	8	92836936	missense	probably damaging	1.00
R7694:Mmp2	UTSW	8	92831730	missense	possibly damaging	0.76
R7814:Mmp2	UTSW	8	92850170	missense	probably benign	0.03
R8536:Mmp2	UTSW	8	92830625	missense	probably damaging	1.00
X0065:Mmp2	UTSW	8	92827739	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTCCTATCTACAAGGGTCC -3'
(R):5'- AGTGTCTCTACCCAAAGGCCAG -3'

Sequencing Primer
(F):5'- AGACTCTGAACTATGGCTACCTGG -3'
(R):5'- AGGGCCTCATACCTTGGTCAG -3'

Posted On

2018-11-06