Mutagenetix > Incidental Mutations

Incidental Mutation 'R5155:Mmp9'

396633

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

042737-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164940780-164955850 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 164949066 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017881 (fasta)

Gene Model

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

AlphaFold

P41245

Predicted Effect

probably null
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,490,703	I323T	probably damaging	Het
Abca13	T	C	11: 9,532,447	V4326A	probably damaging	Het
Actn4	A	G	7: 28,962,017		probably null	Het
Adamts8	A	G	9: 30,954,548	D464G	probably benign	Het
Adssl1	T	C	12: 112,638,208	I366T	probably damaging	Het
Alox12e	T	C	11: 70,316,255	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,778,330	M73K	probably benign	Het
Ap4e1	A	G	2: 127,063,369	T987A	probably benign	Het
Banp	A	C	8: 122,001,020	S318R	probably damaging	Het
Bcas1	T	C	2: 170,418,618	H47R	probably damaging	Het
Brwd1	G	T	16: 96,002,793	S2524*	probably null	Het
Cand2	T	A	6: 115,792,258	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,141,126	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,507,572	Y83F	probably benign	Het
Ccdc155	C	A	7: 45,189,654	E53*	probably null	Het
Ccdc162	A	T	10: 41,553,580		probably null	Het
Ccdc162	A	C	10: 41,579,151	S396A	probably damaging	Het
Ces1e	A	T	8: 93,201,406	*562R	probably null	Het
Clstn2	T	A	9: 97,456,431	M892L	probably benign	Het
Crybg3	T	C	16: 59,524,901	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,652,485	N326S	probably benign	Het
Cux1	G	A	5: 136,565,441		probably benign	Het
Cyb5r4	T	G	9: 87,040,403	M155R	probably benign	Het
D130043K22Rik	A	G	13: 24,872,290	D535G	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,184	T1486A	probably damaging	Het
Dnah2	G	A	11: 69,422,536	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,643,495	N272I	probably benign	Het
Dsg2	A	G	18: 20,598,658	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 138,126,743	N507K	probably benign	Het
Elavl4	T	C	4: 110,292,636	Q3R	probably null	Het
Engase	T	G	11: 118,481,281	I133S	probably benign	Het
Ercc5	T	C	1: 44,180,622	V1018A	probably damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,673,562	A270T	probably benign	Het
Fhdc1	T	G	3: 84,446,150	Q589H	probably benign	Het
Gatm	G	A	2: 122,609,853	T35I	probably benign	Het
Gcgr	T	C	11: 120,537,046	I271T	probably benign	Het
Gm21818	T	C	13: 120,173,553	S124P	probably benign	Het
Gm527	T	A	12: 64,923,607	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,267,384	H139R	possibly damaging	Het
Herc2	G	A	7: 56,227,826	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,035,303	S89T	probably benign	Het
Lrba	A	G	3: 86,351,300	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,728,622		probably null	Het
Map1a	G	A	2: 121,302,386	A990T	probably damaging	Het
Micall2	C	A	5: 139,710,231	L784F	probably damaging	Het
Mrps7	T	A	11: 115,604,829	Y64*	probably null	Het
Mslnl	C	T	17: 25,738,968	Q62*	probably null	Het
Nfil3	A	G	13: 52,968,580	L96P	probably damaging	Het
Olfr453	A	G	6: 42,744,814	Y259C	probably damaging	Het
Phf3	T	C	1: 30,824,376	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,958,988		probably null	Het
Prickle4	C	T	17: 47,690,057		probably null	Het
Prr9	T	A	3: 92,123,049	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,160,091		probably null	Het
Prrt3	A	G	6: 113,497,559		probably null	Het
Psme4	A	T	11: 30,876,806	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,713,572	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Rnf8	A	G	17: 29,626,630	Y65C	probably damaging	Het
Rph3a	T	C	5: 120,948,770	T456A	possibly damaging	Het
Scaper	T	A	9: 55,556,086	Q854L	probably null	Het
Sez6l2	T	C	7: 126,962,373	S472P	probably damaging	Het
Spsb3	T	C	17: 24,886,995		probably benign	Het
Srebf2	A	G	15: 82,196,226	D40G	probably damaging	Het
Sspo	A	G	6: 48,460,474	N1389D	probably benign	Het
Taf4b	G	T	18: 14,830,095	A631S	probably benign	Het
Tigd4	G	A	3: 84,594,663	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,316		probably benign	Het
Uso1	T	A	5: 92,167,335		probably null	Het
Vmn2r6	T	G	3: 64,538,514	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,412,121	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,906,965	Q44L	probably benign	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	splice site	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
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
R7822:Mmp9	UTSW	2	164949036	nonsense	probably null
R8181:Mmp9	UTSW	2	164950445	missense	probably damaging	1.00
R8298:Mmp9	UTSW	2	164950359	missense	probably null	1.00
R8500:Mmp9	UTSW	2	164953566	missense	possibly damaging	0.54
R8911:Mmp9	UTSW	2	164952648	missense	possibly damaging	0.75
R9111:Mmp9	UTSW	2	164950806	splice site	probably null
R9289:Mmp9	UTSW	2	164954880	missense	probably benign	0.37
X0020:Mmp9	UTSW	2	164950373	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCATACTTGTACCGCTATGG -3'
(R):5'- CATGCACGGATTACAAATGGGG -3'

Sequencing Primer
(F):5'- AGAAGCAGTCTCTACGGCC -3'
(R):5'- TTACAAATGGGGGTGGGC -3'

Posted On

2016-06-21