Mutagenetix > Incidental Mutations

Incidental Mutation 'R5309:Mmp9'

404693

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

042892-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164940780-164955850 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 164950795 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120628 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000017881

SMART Domains

Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737

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

0.0496

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (68/69)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,813,576	I629T	probably damaging	Het
A630073D07Rik	T	C	6: 132,626,577	Q72R	unknown	Het
Abca15	T	C	7: 120,345,369	V409A	probably damaging	Het
Abcg3	A	C	5: 104,936,599	C577G	possibly damaging	Het
Adamtsl5	A	T	10: 80,345,148		probably benign	Het
Adgrg3	G	A	8: 95,039,864	V388I	probably benign	Het
Ank2	T	C	3: 126,959,768	Q288R	probably damaging	Het
Ccdc173	T	C	2: 69,787,258	T60A	possibly damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cdh3	A	G	8: 106,539,020	T232A	probably damaging	Het
Cntnap5c	A	T	17: 58,359,254	E1093V	probably benign	Het
Cwh43	A	G	5: 73,416,767	H258R	probably benign	Het
Cyp2j6	T	A	4: 96,535,556	I192F	probably damaging	Het
Dnaaf5	T	A	5: 139,152,862	V266E	probably damaging	Het
Egfr	G	A	11: 16,911,703	G1161S	probably benign	Het
Ehmt1	A	G	2: 24,884,195	V201A	probably damaging	Het
Exoc7	C	A	11: 116,305,027	E28*	probably null	Het
Fam118a	C	T	15: 85,050,755	T195M	probably damaging	Het
Fancg	A	G	4: 43,003,019	F613L	probably benign	Het
Fbxo10	A	T	4: 45,042,036	I731N	possibly damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gfm2	G	A	13: 97,163,151	A406T	probably damaging	Het
Gnal	G	A	18: 67,213,107	R219K	possibly damaging	Het
Helz2	T	A	2: 181,234,846	E1285V	probably benign	Het
Ighv1-74	A	G	12: 115,802,881	S39P	probably damaging	Het
Ipo11	T	C	13: 106,833,973		probably benign	Het
Klc1	A	G	12: 111,795,621	K575R	possibly damaging	Het
Larp1	T	C	11: 58,050,808	V689A	possibly damaging	Het
Lman1l	A	T	9: 57,611,077	L343Q	probably damaging	Het
Mki67	A	T	7: 135,700,830	V825E	probably damaging	Het
Myog	A	G	1: 134,290,326	K91E	probably damaging	Het
Nfil3	A	T	13: 52,967,620	V416E	probably damaging	Het
Nup160	G	T	2: 90,732,832	E1314*	probably null	Het
Olfr1277	T	G	2: 111,270,310	D19A	probably benign	Het
Olfr1284	T	C	2: 111,379,834	V278A	possibly damaging	Het
Olfr790	T	A	10: 129,501,514	V210E	probably damaging	Het
Olfr792	A	C	10: 129,541,265	M243L	probably benign	Het
Osbpl8	T	A	10: 111,270,557	V275E	probably benign	Het
Osbpl9	A	G	4: 109,066,155	S520P	probably damaging	Het
Ppp4r4	T	A	12: 103,606,888		probably null	Het
Proz	T	C	8: 13,061,049	L7P	probably damaging	Het
Ptpn13	G	A	5: 103,541,053	S904N	probably damaging	Het
Rap1gds1	A	G	3: 138,958,628	L322P	probably damaging	Het
Rnf5	A	G	17: 34,601,588	F175S	probably benign	Het
Sema4a	G	A	3: 88,437,036	S636F	probably damaging	Het
Sfrp2	A	G	3: 83,769,401	D193G	probably damaging	Het
Shoc2	T	C	19: 53,987,733	V18A	probably benign	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc10a6	A	T	5: 103,609,092	C269S	probably damaging	Het
Slc34a2	A	G	5: 53,069,488	E651G	probably damaging	Het
Snx13	C	T	12: 35,144,325	Q956*	probably null	Het
Spg21	A	G	9: 65,468,802	I31V	probably benign	Het
Srpk2	T	C	5: 23,525,718	K268E	probably damaging	Het
Supt16	T	C	14: 52,162,698	E996G	probably damaging	Het
Syf2	A	G	4: 134,936,069	D184G	probably benign	Het
Tmem45a2	T	C	16: 57,039,007	D287G	possibly damaging	Het
Utrn	A	T	10: 12,727,769	D627E	probably damaging	Het
Vmn1r170	T	A	7: 23,606,455	I94N	probably damaging	Het
Vmn2r103	A	T	17: 19,793,034	N139I	probably benign	Het
Vmn2r15	T	A	5: 109,293,090	I301F	probably damaging	Het
Zfp949	A	C	9: 88,567,183	T14P	possibly damaging	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
R1366:Mmp9	UTSW	2	164953342	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
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'- AGCATTGGTCTCTAAAGGTGGC -3'
(R):5'- TTGGTCTGGACAGAAACCCC -3'

Sequencing Primer
(F):5'- CATTGGTCTCTAAAGGTGGCTTTTCC -3'
(R):5'- AGAAACCCCACTTCTTGTCAGTG -3'

Posted On

2016-07-22