Mutagenetix > Incidental Mutation

Incidental Mutation 'R4655:Mmp9'

352332

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

041915-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164782700-164797770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164793122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 424 (S424G)

Ref Sequence

ENSEMBL: ENSMUSP00000017881 (fasta)

Gene Model

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

AlphaFold

P41245

Predicted Effect

probably benign
Transcript: ENSMUST00000017881
AA Change: S424G

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737
AA Change: S424G

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (79/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,778 (GRCm39)	V300A	probably benign	Het
Aadacl4fm2	A	T	4: 144,281,645 (GRCm39)	F382L	probably benign	Het
Abca4	A	G	3: 121,941,147 (GRCm39)	N405S	possibly damaging	Het
Acsl3	A	G	1: 78,668,063 (GRCm39)	T212A	probably damaging	Het
Ahnak	A	G	19: 8,986,065 (GRCm39)	K2450E	probably damaging	Het
Akap9	G	A	5: 4,096,403 (GRCm39)	R2426H	probably benign	Het
Akr1c6	T	C	13: 4,499,428 (GRCm39)	V266A	probably damaging	Het
Ccs	A	G	19: 4,889,232 (GRCm39)	V11A	probably benign	Het
Cdc14a	T	A	3: 116,122,136 (GRCm39)	H228L	probably damaging	Het
Cgn	G	A	3: 94,686,559 (GRCm39)	Q248*	probably null	Het
Cux2	G	A	5: 122,023,997 (GRCm39)	T92M	possibly damaging	Het
Cyb5r4	A	G	9: 86,941,482 (GRCm39)	K68E	probably benign	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah9	T	C	11: 65,846,558 (GRCm39)	N2918S	probably benign	Het
Dyrk1b	T	C	7: 27,885,176 (GRCm39)	V438A	probably damaging	Het
Eml1	G	A	12: 108,500,972 (GRCm39)	D625N	probably damaging	Het
Eno2	T	C	6: 124,740,889 (GRCm39)		probably null	Het
Ephb3	G	A	16: 21,040,958 (GRCm39)	G672D	probably damaging	Het
Evx1	A	T	6: 52,291,182 (GRCm39)	D118V	probably damaging	Het
Fbxl13	A	G	5: 21,787,037 (GRCm39)	L300S	probably damaging	Het
Fbxo30	T	C	10: 11,166,837 (GRCm39)	F520L	probably damaging	Het
Flt3	G	A	5: 147,286,403 (GRCm39)	P728S	possibly damaging	Het
Gas2l2	T	C	11: 83,314,001 (GRCm39)	E437G	possibly damaging	Het
Gldc	A	T	19: 30,138,102 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,232 (GRCm39)		probably benign	Het
Gm7358	A	T	17: 14,279,410 (GRCm39)		noncoding transcript	Het
Grifin	A	G	5: 140,550,300 (GRCm39)	V47A	possibly damaging	Het
H3c7	T	C	13: 23,728,923 (GRCm39)	V90A	probably benign	Het
Hddc2	G	T	10: 31,204,016 (GRCm39)		probably benign	Het
Hkdc1	T	A	10: 62,236,242 (GRCm39)	R433S	probably benign	Het
Htt	A	G	5: 35,063,476 (GRCm39)	D2918G	probably benign	Het
Itga2	A	C	13: 115,009,805 (GRCm39)	D383E	probably benign	Het
Itpr1	G	A	6: 108,458,254 (GRCm39)	C2007Y	probably damaging	Het
Krt42	C	A	11: 100,160,671 (GRCm39)	Q9H	probably damaging	Het
Lyrm7	T	C	11: 54,739,434 (GRCm39)	Q72R	probably damaging	Het
Mtr	A	G	13: 12,242,679 (GRCm39)	V457A	probably damaging	Het
Myo15b	T	C	11: 115,781,523 (GRCm39)	L1359P	probably damaging	Het
Neb	A	G	2: 52,117,311 (GRCm39)	L4087P	probably damaging	Het
Npl	T	C	1: 153,391,152 (GRCm39)	D201G	probably damaging	Het
Or1af1	A	G	2: 37,109,885 (GRCm39)	N128S	probably benign	Het
Or8b1c	C	A	9: 38,384,120 (GRCm39)	P26T	probably damaging	Het
Or8k3	A	G	2: 86,059,037 (GRCm39)	S93P	probably benign	Het
Pclo	T	C	5: 14,732,397 (GRCm39)		probably benign	Het
Pdp2	A	G	8: 105,321,168 (GRCm39)	D339G	probably benign	Het
Pfdn6	A	T	17: 34,159,014 (GRCm39)	Y16*	probably null	Het
Pilra	C	T	5: 137,833,588 (GRCm39)		probably null	Het
Prrc2a	A	T	17: 35,374,590 (GRCm39)	N1353K	probably benign	Het
Prss3l	T	A	6: 41,422,984 (GRCm39)	I6F	probably benign	Het
Ptger4	C	A	15: 5,272,545 (GRCm39)	A50S	probably benign	Het
Pus10	T	C	11: 23,622,707 (GRCm39)	V109A	probably benign	Het
Pus3	A	C	9: 35,476,228 (GRCm39)	D39A	probably benign	Het
Rab44	A	G	17: 29,358,168 (GRCm39)	N119D	probably benign	Het
Rasgrp2	T	C	19: 6,454,876 (GRCm39)		probably benign	Het
Rhobtb2	T	A	14: 70,033,438 (GRCm39)	I511F	probably damaging	Het
Sfxn1	C	A	13: 54,246,457 (GRCm39)	A167D	probably benign	Het
Slc12a6	A	G	2: 112,188,111 (GRCm39)		probably null	Het
Smyd4	C	T	11: 75,281,558 (GRCm39)	L344F	probably damaging	Het
Srsf11	A	G	3: 157,728,972 (GRCm39)	V93A	probably benign	Het
Tle1	A	G	4: 72,063,581 (GRCm39)	I224T	possibly damaging	Het
Tmc6	A	T	11: 117,663,868 (GRCm39)	S479R	possibly damaging	Het
Tmprss4	T	C	9: 45,087,702 (GRCm39)	M296V	probably benign	Het
Togaram1	A	G	12: 65,013,894 (GRCm39)	N382D	possibly damaging	Het
Tpcn1	A	G	5: 120,677,322 (GRCm39)	S662P	probably damaging	Het
Tppp	G	T	13: 74,178,983 (GRCm39)	R141S	probably benign	Het
Ttc21a	A	G	9: 119,790,828 (GRCm39)	D858G	possibly damaging	Het
Tuba3a	A	G	6: 125,258,130 (GRCm39)	S287P	possibly damaging	Het
Unc80	T	G	1: 66,710,821 (GRCm39)	S2697A	probably benign	Het
Vmn1r69	A	G	7: 10,314,026 (GRCm39)	V235A	probably benign	Het
Vmn2r26	T	A	6: 124,038,375 (GRCm39)	I650N	probably damaging	Het
Vmn2r53	G	A	7: 12,315,932 (GRCm39)	T629I	possibly damaging	Het
Vmn2r74	T	C	7: 85,610,555 (GRCm39)	T46A	probably benign	Het
Vmn2r84	A	T	10: 130,229,973 (GRCm39)	C46*	probably null	Het
Vps13b	T	C	15: 35,770,835 (GRCm39)	S2093P	probably benign	Het
Wdfy4	T	C	14: 32,711,893 (GRCm39)	R2375G	probably damaging	Het
Wnk2	T	G	13: 49,210,359 (GRCm39)	E1820A	probably damaging	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
R0125:Mmp9	UTSW	2	164,793,177 (GRCm39)	missense	probably damaging	1.00
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
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'- GTTTCTGTCCAGACCAAGGTG -3'
(R):5'- TCCACTTACTGGGCACTCAG -3'

Sequencing Primer
(F):5'- TCCAGACCAAGGTGAGCGG -3'
(R):5'- GGCCCTGACCCAGATAGATATTG -3'

Posted On

2015-10-08