Mutagenetix > Incidental Mutations

Incidental Mutation 'R2034:Mmp2'

224333

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

040041-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92827291-92853420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92836912 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 338 (S338F)

Ref Sequence

ENSEMBL: ENSMUSP00000034187 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034187
AA Change: S338F

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

SMART Domains

Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: S338F

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: ENSMUST00000211691

Meta Mutation Damage Score

0.2702

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,900,559	I65V	probably benign	Het
Abca13	A	G	11: 9,292,628	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,835,235	N184K	probably benign	Het
Ampd2	A	T	3: 108,077,363	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,648,458	D1018G	possibly damaging	Het
Ano9	T	A	7: 141,108,135	I223F	probably damaging	Het
B3gnt6	A	G	7: 98,194,018	L245P	possibly damaging	Het
Bag6	G	A	17: 35,144,692	R784Q	probably damaging	Het
Brca1	C	G	11: 101,489,849	S1786T	probably benign	Het
Btbd3	T	G	2: 138,278,983	S26A	probably benign	Het
Cacna1d	C	A	14: 30,089,863	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491	T6I	probably damaging	Het
Col7a1	T	C	9: 108,963,007	V1262A	unknown	Het
Crh	C	A	3: 19,694,098	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,613,538	L64*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddc	T	A	11: 11,880,456	I63L	probably benign	Het
Eif3a	C	T	19: 60,762,130		probably benign	Het
Fsip2	T	A	2: 82,989,494	N5190K	probably benign	Het
Gm5420	A	G	10: 21,691,613		noncoding transcript	Het
Grb14	A	G	2: 64,923,529		probably benign	Het
Gsap	A	T	5: 21,270,595	I545F	probably damaging	Het
Hectd1	A	T	12: 51,757,116		probably null	Het
Helz2	G	A	2: 181,232,578	P2041L	probably damaging	Het
Herc1	G	A	9: 66,441,972	A2038T	probably benign	Het
Il10	C	A	1: 131,024,185	Q152K	probably benign	Het
Klrg1	A	G	6: 122,279,637		probably null	Het
Lrig2	T	C	3: 104,494,092	T160A	probably benign	Het
Mmd2	A	T	5: 142,575,184		probably null	Het
Nalcn	T	G	14: 123,283,603	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,164,983	S909G	probably benign	Het
Neb	A	T	2: 52,280,611	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,458,370	I637V	possibly damaging	Het
Npw	G	A	17: 24,658,268	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,275,564		probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nup188	T	A	2: 30,310,085		probably benign	Het
Olfr1444	T	A	19: 12,861,787	M4K	possibly damaging	Het
Olfr726	T	C	14: 50,083,983	M233V	probably benign	Het
Parp4	A	T	14: 56,634,263	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,422,493	V292A	probably benign	Het
Pcnx2	A	G	8: 125,818,667		probably null	Het
Phf2	A	G	13: 48,817,730	S489P	unknown	Het
Pik3r5	T	A	11: 68,493,577	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,222,357	E432D	probably damaging	Het
Pink1	T	C	4: 138,318,032	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,200,669	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,780,594	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,157,927	V492A	possibly damaging	Het
Prp2	G	T	6: 132,595,984		probably null	Het
Rabl6	T	C	2: 25,585,432	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605		probably null	Het
Rps6kb2	T	C	19: 4,161,107	T140A	probably damaging	Het
S100a11	T	C	3: 93,526,122	I91T	probably benign	Het
Serpine2	A	G	1: 79,796,852	L230P	probably damaging	Het
Sh3tc2	A	G	18: 61,987,666	D370G	probably damaging	Het
Sim2	A	C	16: 94,085,942	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,183,583	L419P	probably damaging	Het
Srgap1	C	T	10: 121,792,746	E817K	probably damaging	Het
Stag3	A	G	5: 138,298,001	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,820,421	N361S	probably damaging	Het
Tmco6	A	G	18: 36,737,856		probably null	Het
Tmem104	T	A	11: 115,243,547	I303N	probably benign	Het
Ttll6	G	T	11: 96,135,526	D86Y	probably damaging	Het
Vmn1r120	T	G	7: 21,052,958	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,883,989	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,426,373		probably benign	Het
Vwa3a	A	T	7: 120,782,645	K568*	probably null	Het
Zcchc11	C	T	4: 108,512,195	R651W	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
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
R6902:Mmp2	UTSW	8	92836917	missense	probably damaging	0.97
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'- TGCTCCTATCTACAAGGGTCC -3'
(R):5'- TCCAGTGTCTCTACCCAAAGGC -3'

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

Posted On

2014-08-25