Mutagenetix > Incidental Mutation

Incidental Mutation 'R0125:Mmp9'

21263

Institutional Source

Beutler Lab

Gene Symbol

Mmp9

Ensembl Gene

ENSMUSG00000017737

Gene Name

matrix metallopeptidase 9

Synonyms

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

MMRRC Submission

038410-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0125 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

164782700-164797770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164793177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 442 (L442Q)

Ref Sequence

ENSEMBL: ENSMUSP00000017881 (fasta)

Gene Model

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

AlphaFold

P41245

Predicted Effect

probably damaging
Transcript: ENSMUST00000017881
AA Change: L442Q

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

SMART Domains

Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737
AA Change: L442Q

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

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.1%

Validation Efficiency

98% (96/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,096 (GRCm39)		probably benign	Het
Adam23	T	C	1: 63,573,515 (GRCm39)	L261P	probably benign	Het
Adgra3	G	A	5: 50,159,194 (GRCm39)		probably benign	Het
Agtr1b	A	G	3: 20,369,704 (GRCm39)	F301L	probably benign	Het
Ahnak2	G	A	12: 112,748,776 (GRCm39)	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,704,430 (GRCm39)		probably benign	Het
Apoh	A	T	11: 108,302,899 (GRCm39)	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Atp6v0a1	A	G	11: 100,929,677 (GRCm39)		probably null	Het
Axl	A	T	7: 25,486,368 (GRCm39)	M112K	probably benign	Het
Bnc2	A	C	4: 84,211,169 (GRCm39)	I425S	probably damaging	Het
Ccn4	T	C	15: 66,789,194 (GRCm39)	S227P	possibly damaging	Het
Cdc42bpa	C	T	1: 179,788,763 (GRCm39)	T30M	probably damaging	Het
Cebpz	C	A	17: 79,227,317 (GRCm39)	R1051M	possibly damaging	Het
Ces1d	A	C	8: 93,901,810 (GRCm39)		probably benign	Het
Chd1l	T	C	3: 97,494,465 (GRCm39)	N405S	probably benign	Het
Chodl	G	T	16: 78,738,311 (GRCm39)	G93V	probably damaging	Het
Cpeb2	C	T	5: 43,395,743 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,935,105 (GRCm39)		probably benign	Het
Crybb3	T	C	5: 113,227,675 (GRCm39)	T49A	possibly damaging	Het
Ctps1	A	G	4: 120,418,722 (GRCm39)		probably benign	Het
Cyp26b1	A	G	6: 84,551,497 (GRCm39)	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,273,422 (GRCm39)	V483G	probably benign	Het
Dennd2b	T	C	7: 109,155,545 (GRCm39)	K402E	probably benign	Het
Dnah14	A	T	1: 181,579,628 (GRCm39)	N3054Y	probably damaging	Het
Dspp	A	C	5: 104,325,905 (GRCm39)	D756A	unknown	Het
Dst	T	C	1: 34,309,984 (GRCm39)	S1553P	probably damaging	Het
Elp4	A	G	2: 105,622,559 (GRCm39)		probably null	Het
Eml6	G	T	11: 29,832,088 (GRCm39)	T194K	probably benign	Het
Evi5	A	G	5: 107,943,638 (GRCm39)	I569T	probably benign	Het
Fancm	C	T	12: 65,168,730 (GRCm39)	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,352,852 (GRCm39)	D791G	probably benign	Het
Frem1	A	G	4: 82,930,188 (GRCm39)	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,519,481 (GRCm39)	Y196C	probably benign	Het
Hcls1	A	G	16: 36,782,525 (GRCm39)	D398G	probably benign	Het
Hydin	T	C	8: 111,189,163 (GRCm39)	V1189A	probably benign	Het
Itgb3	G	A	11: 104,534,789 (GRCm39)	D549N	probably damaging	Het
Itpr2	A	G	6: 146,141,951 (GRCm39)	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,648,475 (GRCm39)	T161A	probably benign	Het
Kntc1	G	A	5: 123,903,120 (GRCm39)		probably benign	Het
Map3k19	A	T	1: 127,750,837 (GRCm39)	F838Y	probably benign	Het
Map6	T	A	7: 98,985,187 (GRCm39)		probably null	Het
Mcrs1	A	G	15: 99,142,608 (GRCm39)		probably benign	Het
Mdn1	A	T	4: 32,729,956 (GRCm39)	Y2766F	probably damaging	Het
Med23	C	T	10: 24,776,686 (GRCm39)	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,671,646 (GRCm39)	D65E	possibly damaging	Het
Myo19	T	C	11: 84,779,001 (GRCm39)		probably benign	Het
Nedd1	A	C	10: 92,527,791 (GRCm39)	S468A	possibly damaging	Het
Niban2	T	A	2: 32,813,833 (GRCm39)	V682D	probably benign	Het
Nlrp4d	A	C	7: 10,116,316 (GRCm39)	V152G	probably damaging	Het
Nxf1	T	A	19: 8,740,170 (GRCm39)	D112E	probably benign	Het
Oas1h	A	T	5: 121,000,626 (GRCm39)	K79*	probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or5p69	A	G	7: 107,967,576 (GRCm39)	Y293C	probably damaging	Het
Or8b101	A	G	9: 38,020,815 (GRCm39)	T278A	probably benign	Het
Or8b1b	T	A	9: 38,375,757 (GRCm39)	L140*	probably null	Het
Pck1	G	A	2: 172,997,874 (GRCm39)	W314*	probably null	Het
Pla2g15	T	C	8: 106,889,756 (GRCm39)	Y343H	probably benign	Het
Plcb3	T	C	19: 6,936,276 (GRCm39)	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,328,442 (GRCm39)		probably null	Het
Pprc1	A	G	19: 46,057,951 (GRCm39)		probably benign	Het
Prkdc	A	T	16: 15,516,871 (GRCm39)	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,516,701 (GRCm39)	Y172*	probably null	Het
Ros1	G	T	10: 52,001,885 (GRCm39)	A1079D	probably benign	Het
Sap30	T	C	8: 57,938,545 (GRCm39)	E147G	probably null	Het
Sell	T	C	1: 163,899,674 (GRCm39)		probably benign	Het
Senp1	A	T	15: 97,946,112 (GRCm39)	D544E	probably damaging	Het
Shpk	G	A	11: 73,105,048 (GRCm39)		probably benign	Het
Slc35b1	A	T	11: 95,277,353 (GRCm39)	T74S	probably benign	Het
Slc6a3	T	A	13: 73,718,098 (GRCm39)		probably benign	Het
Slf1	T	C	13: 77,191,864 (GRCm39)	N990S	probably benign	Het
Smgc	A	G	15: 91,738,746 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,351,515 (GRCm39)	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,260,285 (GRCm39)	P39S	unknown	Het
Sstr2	T	A	11: 113,515,303 (GRCm39)	M74K	probably damaging	Het
Svep1	T	C	4: 58,099,937 (GRCm39)		probably benign	Het
Tas2r143	A	G	6: 42,377,889 (GRCm39)	I240V	probably benign	Het
Tbrg1	T	C	9: 37,563,937 (GRCm39)	I233V	probably benign	Het
Tecpr1	G	T	5: 144,134,717 (GRCm39)	D1055E	probably damaging	Het
Thap2	A	T	10: 115,212,277 (GRCm39)		probably null	Het
Tinagl1	A	G	4: 130,060,101 (GRCm39)	Y388H	probably damaging	Het
Ttn	T	A	2: 76,585,896 (GRCm39)	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 87,073,961 (GRCm39)	W133R	probably benign	Het
Usp24	C	T	4: 106,254,496 (GRCm39)	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,387,390 (GRCm39)	S395P	possibly damaging	Het
Vav1	T	A	17: 57,606,847 (GRCm39)	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,250,069 (GRCm39)	Y734C	probably damaging	Het
Vps8	T	A	16: 21,288,904 (GRCm39)	V421E	probably benign	Het
Xkr7	G	T	2: 152,874,346 (GRCm39)	A138S	probably benign	Het

Other mutations in Mmp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01707:Mmp9	APN	2	164,791,909 (GRCm39)	missense	probably benign	0.13
IGL01980:Mmp9	APN	2	164,792,836 (GRCm39)	missense	probably benign	0.01
IGL02117:Mmp9	APN	2	164,791,644 (GRCm39)	missense	probably damaging	1.00
IGL02515:Mmp9	APN	2	164,790,876 (GRCm39)	missense	probably damaging	1.00
IGL02756:Mmp9	APN	2	164,791,235 (GRCm39)	missense	probably benign	0.27
IGL02833:Mmp9	APN	2	164,791,723 (GRCm39)	missense	probably damaging	1.00
IGL02893:Mmp9	APN	2	164,790,988 (GRCm39)	splice site	probably null
IGL02949:Mmp9	APN	2	164,793,039 (GRCm39)	missense	probably damaging	1.00
IGL03097:Mmp9	UTSW	2	164,792,726 (GRCm39)	splice site	probably null
R0001:Mmp9	UTSW	2	164,790,303 (GRCm39)	missense	probably benign	0.02
R0532:Mmp9	UTSW	2	164,791,740 (GRCm39)	nonsense	probably null
R1300:Mmp9	UTSW	2	164,790,876 (GRCm39)	missense	probably damaging	1.00
R1341:Mmp9	UTSW	2	164,791,247 (GRCm39)	missense	probably damaging	1.00
R1366:Mmp9	UTSW	2	164,795,262 (GRCm39)	missense	probably damaging	1.00
R1711:Mmp9	UTSW	2	164,791,342 (GRCm39)	missense	probably damaging	1.00
R2138:Mmp9	UTSW	2	164,794,387 (GRCm39)	nonsense	probably null
R3405:Mmp9	UTSW	2	164,791,310 (GRCm39)	missense	probably damaging	0.99
R3406:Mmp9	UTSW	2	164,791,310 (GRCm39)	missense	probably damaging	0.99
R4460:Mmp9	UTSW	2	164,790,958 (GRCm39)	missense	probably damaging	0.99
R4655:Mmp9	UTSW	2	164,793,122 (GRCm39)	missense	probably benign	0.29
R5155:Mmp9	UTSW	2	164,790,986 (GRCm39)	critical splice donor site	probably null
R5309:Mmp9	UTSW	2	164,792,715 (GRCm39)	unclassified	probably benign
R5355:Mmp9	UTSW	2	164,792,912 (GRCm39)	missense	possibly damaging	0.76
R5476:Mmp9	UTSW	2	164,794,414 (GRCm39)	missense	probably benign
R5505:Mmp9	UTSW	2	164,795,528 (GRCm39)	missense	probably benign	0.34
R5646:Mmp9	UTSW	2	164,790,970 (GRCm39)	missense	probably benign	0.00
R5725:Mmp9	UTSW	2	164,791,256 (GRCm39)	missense	possibly damaging	0.93
R6968:Mmp9	UTSW	2	164,794,860 (GRCm39)	missense	probably benign
R7082:Mmp9	UTSW	2	164,790,812 (GRCm39)	missense	probably benign	0.25
R7822:Mmp9	UTSW	2	164,790,956 (GRCm39)	nonsense	probably null
R8181:Mmp9	UTSW	2	164,792,365 (GRCm39)	missense	probably damaging	1.00
R8298:Mmp9	UTSW	2	164,792,279 (GRCm39)	missense	probably null	1.00
R8500:Mmp9	UTSW	2	164,795,486 (GRCm39)	missense	possibly damaging	0.54
R8911:Mmp9	UTSW	2	164,794,568 (GRCm39)	missense	possibly damaging	0.75
R9111:Mmp9	UTSW	2	164,792,726 (GRCm39)	splice site	probably null
R9289:Mmp9	UTSW	2	164,796,800 (GRCm39)	missense	probably benign	0.37
R9489:Mmp9	UTSW	2	164,793,146 (GRCm39)	missense	probably benign	0.09
R9582:Mmp9	UTSW	2	164,791,235 (GRCm39)	missense	probably benign	0.00
R9590:Mmp9	UTSW	2	164,790,834 (GRCm39)	missense	probably benign	0.00
R9707:Mmp9	UTSW	2	164,794,605 (GRCm39)	missense	possibly damaging	0.49
X0020:Mmp9	UTSW	2	164,792,293 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGTGGCATTTCAGACTCCTTC -3'
(R):5'- TGAGAGCCACGCTATTATCGCAC -3'

Sequencing Primer
(F):5'- TCTACCTTCCAGGGTACAGC -3'
(R):5'- tcttgctgaggaggatcaaac -3'

Posted On

2013-04-11