Mutagenetix > Incidental Mutation

Incidental Mutation 'R0001:Mmp9'

157126

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

038297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0001 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

164782700-164797770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164790303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 43 (T43A)

Ref Sequence

ENSEMBL: ENSMUSP00000120628 (fasta)

Gene Model

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

AlphaFold

P41245

Predicted Effect

probably benign
Transcript: ENSMUST00000017881
AA Change: T43A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737
AA Change: T43A

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
AA Change: T43A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000120628
Gene: ENSMUSG00000017737
AA Change: T43A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,288,534 (GRCm39)		probably benign	Het
A4galt	A	G	15: 83,112,490 (GRCm39)	F98L	probably benign	Het
Abca4	T	G	3: 121,874,660 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,342,894 (GRCm39)		probably benign	Het
Agbl1	A	T	7: 76,069,611 (GRCm39)	H367L	probably damaging	Het
Apoa4	C	A	9: 46,154,190 (GRCm39)	Q264K	probably benign	Het
Camsap2	A	T	1: 136,210,626 (GRCm39)		probably benign	Het
Cdan1	C	A	2: 120,554,232 (GRCm39)	R939L	probably benign	Het
Ceacam18	G	A	7: 43,286,300 (GRCm39)	V58I	possibly damaging	Het
Ciita	A	T	16: 10,332,297 (GRCm39)		probably benign	Het
Clk4	T	A	11: 51,159,592 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,507,105 (GRCm39)	D215G	probably benign	Het
Col11a2	T	C	17: 34,280,586 (GRCm39)	S1218P	probably benign	Het
Col20a1	T	C	2: 180,626,205 (GRCm39)		probably benign	Het
Ctsb	A	G	14: 63,373,071 (GRCm39)	E76G	probably benign	Het
Ctu2	T	C	8: 123,205,659 (GRCm39)	C161R	probably benign	Het
Dhx29	T	C	13: 113,101,090 (GRCm39)	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,338,382 (GRCm39)	T759K	probably damaging	Het
Dmxl1	T	C	18: 50,021,964 (GRCm39)		probably benign	Het
Dpysl3	C	T	18: 43,491,440 (GRCm39)	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,095,864 (GRCm39)	K453*	probably null	Het
Epha7	T	C	4: 28,961,279 (GRCm39)		probably benign	Het
Fat3	T	C	9: 16,289,169 (GRCm39)	D118G	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Foxn4	T	A	5: 114,398,931 (GRCm39)	Q159L	probably damaging	Het
Frs2	G	T	10: 116,910,781 (GRCm39)	H194N	possibly damaging	Het
Fut8	A	T	12: 77,522,089 (GRCm39)	*576L	probably null	Het
Galns	T	C	8: 123,322,622 (GRCm39)		probably benign	Het
Gamt	G	A	10: 80,094,895 (GRCm39)		probably benign	Het
Gpn1	T	A	5: 31,652,961 (GRCm39)		probably benign	Het
Ipcef1	G	T	10: 6,850,600 (GRCm39)	H330Q	probably damaging	Het
Itga4	A	C	2: 79,156,931 (GRCm39)	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,259,787 (GRCm39)	I229V	probably benign	Het
Katnal1	A	G	5: 148,858,085 (GRCm39)	S42P	probably damaging	Het
Kcnu1	A	T	8: 26,349,298 (GRCm39)	D142V	probably damaging	Het
Lig3	C	T	11: 82,681,417 (GRCm39)	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,224,817 (GRCm39)	S344G	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,507,625 (GRCm39)		probably benign	Het
Mki67	C	T	7: 135,300,901 (GRCm39)	V1378M	probably damaging	Het
Mki67	T	A	7: 135,302,748 (GRCm39)	D762V	probably damaging	Het
Muc6	T	C	7: 141,227,841 (GRCm39)	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,351,158 (GRCm39)		probably null	Het
Naip5	C	A	13: 100,359,622 (GRCm39)	S538I	probably benign	Het
Nek3	A	T	8: 22,648,628 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,052,585 (GRCm39)	S948P	probably damaging	Het
Nyap2	A	T	1: 81,169,822 (GRCm39)	H193L	probably benign	Het
Or52h1	T	A	7: 103,828,680 (GRCm39)	K312*	probably null	Het
Or9s23	A	G	1: 92,501,183 (GRCm39)	K97E	possibly damaging	Het
Patl2	G	A	2: 121,956,191 (GRCm39)		probably benign	Het
Pcdhb11	A	T	18: 37,557,042 (GRCm39)	R791W	probably benign	Het
Pkd1l3	C	A	8: 110,355,265 (GRCm39)		probably benign	Het
Pkn2	A	T	3: 142,534,749 (GRCm39)	V73D	probably benign	Het
Pknox1	A	T	17: 31,818,610 (GRCm39)	H281L	probably damaging	Het
Polr3a	A	G	14: 24,502,257 (GRCm39)		probably benign	Het
Prss38	A	G	11: 59,264,006 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,585,416 (GRCm39)	F783S	probably damaging	Het
Rbm5	T	C	9: 107,619,623 (GRCm39)	R125G	probably damaging	Het
Rnpep	A	G	1: 135,200,223 (GRCm39)		probably benign	Het
Slc1a5	T	A	7: 16,527,562 (GRCm39)		probably null	Het
Slc22a4	G	A	11: 53,918,829 (GRCm39)		probably benign	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Spmip5	G	A	19: 58,777,603 (GRCm39)	A61V	probably damaging	Het
Svep1	G	A	4: 58,066,460 (GRCm39)	T3208I	possibly damaging	Het
Tgm5	G	T	2: 120,908,127 (GRCm39)	D16E	probably damaging	Het
Tpp2	A	G	1: 44,010,886 (GRCm39)	N558D	probably benign	Het
Trappc9	A	T	15: 72,835,511 (GRCm39)	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,692,695 (GRCm39)	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,607,316 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,662,433 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,179,099 (GRCm39)	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,216,448 (GRCm39)	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps39	A	G	2: 120,148,534 (GRCm39)	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,485,112 (GRCm39)	D149G	probably benign	Het
Zfp648	C	T	1: 154,081,032 (GRCm39)	T397M	probably damaging	Het
Zic2	C	A	14: 122,716,369 (GRCm39)	T435K	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
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
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'- ACACGCTGAGTCAGCATAAGCC -3'
(R):5'- TTCGAAGCCGAACCCAATCTGTCC -3'

Sequencing Primer
(F):5'- CTGAGTCAGCATAAGCCTGGAG -3'
(R):5'- GACCCGAATCTGCCCAGAG -3'

Posted On

2014-02-14