Mutagenetix > Incidental Mutations

Incidental Mutation 'R1366:Mmp9'

156027

Institutional Source

Beutler Lab

Gene Symbol

Mmp9

Ensembl Gene

ENSMUSG00000017737

Gene Name

matrix metallopeptidase 9

Synonyms

gelatinase B, MMP-9, Gelatinase B, B/MMP9, Gel B, Clg4b

MMRRC Submission

039431-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1366 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

164940780-164955850 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164953342 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 628 (V628E)

Ref Sequence

ENSEMBL: ENSMUSP00000017881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017881] [ENSMUST00000137626]

Predicted Effect

probably damaging
Transcript: ENSMUST00000017881
AA Change: V628E

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

SMART Domains

Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737
AA Change: V628E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:PG_binding_1	39	95	2.9e-8	PFAM
ZnMc	112	445	3.92e-39	SMART
FN2	223	271	8.08e-29	SMART
FN2	281	329	6.93e-28	SMART
FN2	340	388	9.28e-29	SMART
low complexity region	449	468	N/A	INTRINSIC
Pfam:PT	474	508	1.1e-11	PFAM
HX	539	583	2.4e-8	SMART
HX	585	626	9.33e-6	SMART
HX	631	677	2.74e-3	SMART
HX	679	721	1.74e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134382

Predicted Effect

probably benign
Transcript: ENSMUST00000137626

SMART Domains

Protein: ENSMUSP00000120628
Gene: ENSMUSG00000017737

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PDB:1L6J\|A	20	67	5e-15	PDB
SCOP:d1l6ja1	29	67	2e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144917

Meta Mutation Damage Score

0.5359

Coding Region Coverage

1x: 98.6%
3x: 97.1%
10x: 92.3%
20x: 80.8%

Validation Efficiency

93% (43/46)

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 degrades collagens of type IV, V and XI, and elastin. Mice lacking the encoded protein exhibit an abnormal pattern of skeletal growth plate vascularization and ossification, reduced keratinocyte hyperproliferation at all neoplastic stages, a decreased incidence of invasive tumors, and resistance to experimental autoimmune encephalomyelitis. [provided by RefSeq, Feb 2016]
PHENOTYPE: Null mutants have short long bones with compensatory growth via delayed ossification and apoptosis of hypertrophic chondroctyes. Mutants are protected against ischemic brain injury, damage caused by myocardial infarction, and allergic airway inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	A	5: 31,487,517	C205S	probably benign	Het
Aasdh	A	T	5: 76,888,804	S297T	probably benign	Het
Acsm1	T	C	7: 119,658,288		probably benign	Het
Ankar	T	A	1: 72,698,649	N125Y	probably damaging	Het
Chd1l	T	C	3: 97,581,149	D517G	probably damaging	Het
Cir1	A	T	2: 73,306,413		probably benign	Het
Cpxm1	G	A	2: 130,396,122	R136W	probably damaging	Het
Cyhr1	T	C	15: 76,648,969	R190G	probably damaging	Het
Dnah10	A	T	5: 124,753,326	E761D	probably benign	Het
Fam186a	T	A	15: 99,943,389	E1658V	possibly damaging	Het
Fam98a	A	G	17: 75,539,386		probably benign	Het
Fanca	G	A	8: 123,304,281		probably benign	Het
Frmd6	T	C	12: 70,887,889		probably benign	Het
Gmpr2	T	C	14: 55,676,743		probably benign	Het
Hck	G	A	2: 153,138,295	G348D	probably damaging	Het
Ifnab	T	A	4: 88,691,100	Q43L	possibly damaging	Het
Ilkap	A	G	1: 91,387,215	I142T	possibly damaging	Het
Lamc3	T	C	2: 31,928,847	S1206P	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mid1	A	C	X: 169,986,094	N215H	probably damaging	Het
Mkrn1	T	C	6: 39,405,917	T134A	probably benign	Het
Msi2	A	T	11: 88,716,580	V67D	probably damaging	Het
Ncapd3	T	A	9: 27,057,940	V630E	probably damaging	Het
Nkain1	A	G	4: 130,537,316	V73A	probably damaging	Het
Nphp4	T	A	4: 152,502,926	D245E	probably damaging	Het
Olfr1014	G	A	2: 85,777,004	C140Y	probably benign	Het
Olfr114	T	C	17: 37,589,764	I196M	probably benign	Het
Olfr57	T	G	10: 79,035,042	M82R	probably damaging	Het
Pkd1l1	T	C	11: 8,941,038		probably benign	Het
Plcxd1	A	C	5: 110,102,230	I184L	probably damaging	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Scube2	A	G	7: 109,804,614	Y890H	probably damaging	Het
Slco6c1	T	A	1: 97,128,203		probably null	Het
Tnfaip2	T	G	12: 111,449,322	F485V	probably benign	Het
Tpd52	T	C	3: 8,963,933	D17G	probably damaging	Het
Ube4b	T	C	4: 149,335,149	D1034G	probably damaging	Het
Vmn2r118	G	A	17: 55,593,237	Q556*	probably null	Het

Other mutations in Mmp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01707:Mmp9	APN	2	164949989	missense	probably benign	0.13
IGL01980:Mmp9	APN	2	164950916	missense	probably benign	0.01
IGL02117:Mmp9	APN	2	164949724	missense	probably damaging	1.00
IGL02515:Mmp9	APN	2	164948956	missense	probably damaging	1.00
IGL02756:Mmp9	APN	2	164949315	missense	probably benign	0.27
IGL02833:Mmp9	APN	2	164949803	missense	probably damaging	1.00
IGL02893:Mmp9	APN	2	164949068	splice site	probably null
IGL02949:Mmp9	APN	2	164951119	missense	probably damaging	1.00
IGL03097:Mmp9	UTSW	2	164950806	intron	probably null
R0001:Mmp9	UTSW	2	164948383	missense	probably benign	0.02
R0125:Mmp9	UTSW	2	164951257	missense	probably damaging	1.00
R0532:Mmp9	UTSW	2	164949820	nonsense	probably null
R1300:Mmp9	UTSW	2	164948956	missense	probably damaging	1.00
R1341:Mmp9	UTSW	2	164949327	missense	probably damaging	1.00
R1711:Mmp9	UTSW	2	164949422	missense	probably damaging	1.00
R2138:Mmp9	UTSW	2	164952467	nonsense	probably null
R3405:Mmp9	UTSW	2	164949390	missense	probably damaging	0.99
R3406:Mmp9	UTSW	2	164949390	missense	probably damaging	0.99
R4460:Mmp9	UTSW	2	164949038	missense	probably damaging	0.99
R4655:Mmp9	UTSW	2	164951202	missense	probably benign	0.29
R5155:Mmp9	UTSW	2	164949066	critical splice donor site	probably null
R5309:Mmp9	UTSW	2	164950795	unclassified	probably benign
R5355:Mmp9	UTSW	2	164950992	missense	possibly damaging	0.76
R5476:Mmp9	UTSW	2	164952494	missense	probably benign
R5505:Mmp9	UTSW	2	164953608	missense	probably benign	0.34
R5646:Mmp9	UTSW	2	164949050	missense	probably benign	0.00
R5725:Mmp9	UTSW	2	164949336	missense	possibly damaging	0.93
R6968:Mmp9	UTSW	2	164952940	missense	probably benign
R7082:Mmp9	UTSW	2	164948892	missense	probably benign	0.25
X0020:Mmp9	UTSW	2	164950373	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAACCCGTGAAACTGCGACTCC -3'
(R):5'- TATCCACGCGAATGACGCTCTG -3'

Sequencing Primer
(F):5'- ACATTGGGGggacggac -3'
(R):5'- CTGAGACTTCAAGTCGAATCTGC -3'

Posted On

2014-02-11