Mutagenetix > Incidental Mutation

Incidental Mutation 'R7057:Mmp12'

547986

Institutional Source

Beutler Lab

Gene Symbol

Mmp12

Ensembl Gene

ENSMUSG00000049723

Gene Name

matrix metallopeptidase 12

Synonyms

MMP12, Mmel, macrophage elastase

MMRRC Submission

045154-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R7057 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7344397-7360461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7357840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 348 (Y348C)

Ref Sequence

ENSEMBL: ENSMUSP00000114129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005950] [ENSMUST00000065079] [ENSMUST00000120655] [ENSMUST00000127722]

AlphaFold

P34960

Predicted Effect

probably damaging
Transcript: ENSMUST00000005950
AA Change: Y418C

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

SMART Domains

Protein: ENSMUSP00000005950
Gene: ENSMUSG00000049723
AA Change: Y418C

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:PG_binding_1	30	91	7.6e-22	PFAM
ZnMc	109	268	2.76e-57	SMART
low complexity region	269	284	N/A	INTRINSIC
HX	292	334	1.44e-6	SMART
HX	336	379	2.03e-6	SMART
HX	384	431	2.29e-14	SMART
HX	433	473	2.94e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065079

SMART Domains

Protein: ENSMUSP00000065291
Gene: ENSMUSG00000049723

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	30	91	6.5e-22	PFAM
ZnMc	109	268	1.23e-54	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120655
AA Change: Y348C

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

SMART Domains

Protein: ENSMUSP00000114129
Gene: ENSMUSG00000049723
AA Change: Y348C

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	1	21	9.1e-9	PFAM
ZnMc	39	198	2.76e-57	SMART
low complexity region	199	214	N/A	INTRINSIC
HX	222	264	1.44e-6	SMART
HX	266	309	2.03e-6	SMART
HX	314	361	2.29e-14	SMART
HX	363	403	2.94e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127722

SMART Domains

Protein: ENSMUSP00000120225
Gene: ENSMUSG00000049723

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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. Mice lacking the encoded protein have a diminished capacity to degrade extracellular matrix components, do not develop emphysema in response to long-term exposure to cigarette smoke, and exhibit impaired clearance and increased mortality upon bacterial infection. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to cigarette smoke, decreased littler size, abnormal myelination, abnormal macrophage physiology, and decreased oligodedrocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,945,181 (GRCm39)	V220D	probably benign	Het
Ankrd1	T	C	19: 36,095,633 (GRCm39)	E113G	possibly damaging	Het
Aqp12	T	C	1: 92,939,718 (GRCm39)	L249P	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,296 (GRCm39)	F15S	possibly damaging	Het
Bub1	T	A	2: 127,671,447 (GRCm39)	M46L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2cd4d	A	G	3: 94,270,800 (GRCm39)	H22R	probably benign	Het
Ccdc157	A	G	11: 4,094,586 (GRCm39)	V480A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,952 (GRCm39)		probably benign	Het
Cela1	T	A	15: 100,580,774 (GRCm39)	T161S	possibly damaging	Het
Chtf18	G	T	17: 25,940,100 (GRCm39)	A697E	possibly damaging	Het
Cr2	T	C	1: 194,833,918 (GRCm39)	D957G	possibly damaging	Het
Cyp2c40	A	G	19: 39,796,063 (GRCm39)	V60A	probably damaging	Het
Dazl	CCATGATGGCGGC	CC	17: 50,600,434 (GRCm39)		probably null	Het
Dock2	A	T	11: 34,177,684 (GRCm39)	L1824Q	probably benign	Het
Dock2	T	C	11: 34,586,044 (GRCm39)	Y546C	probably benign	Het
Focad	G	A	4: 88,192,342 (GRCm39)	C557Y	unknown	Het
Ftmt	T	A	18: 52,465,180 (GRCm39)	N165K	probably benign	Het
Gen1	A	C	12: 11,292,419 (GRCm39)	S457A	probably benign	Het
Gja1	T	G	10: 56,264,129 (GRCm39)	S163A	probably benign	Het
Gm8267	T	C	14: 44,959,481 (GRCm39)	I194M	probably damaging	Het
Golga3	T	A	5: 110,336,529 (GRCm39)	S389R	probably damaging	Het
Gpc5	C	A	14: 115,370,654 (GRCm39)	Q87K	possibly damaging	Het
Hmcn2	G	A	2: 31,312,661 (GRCm39)	A3420T	probably damaging	Het
Htt	A	G	5: 34,979,067 (GRCm39)	S817G	probably null	Het
Hus1b	C	T	13: 31,131,533 (GRCm39)	C42Y	possibly damaging	Het
Iars2	A	G	1: 185,021,564 (GRCm39)	F913L	probably benign	Het
Kcna4	A	G	2: 107,125,665 (GRCm39)	E133G	probably damaging	Het
Klhl36	T	C	8: 120,603,536 (GRCm39)	L597P	probably benign	Het
Ltv1	T	C	10: 13,056,646 (GRCm39)	E299G	possibly damaging	Het
Mmp2	A	G	8: 93,558,333 (GRCm39)	D134G	probably damaging	Het
Mrpl15	A	T	1: 4,846,865 (GRCm39)	M237K	probably benign	Het
Ms4a6b	G	T	19: 11,504,253 (GRCm39)	V177F	possibly damaging	Het
Muc16	A	G	9: 18,557,375 (GRCm39)	S2973P	unknown	Het
Or1e30	A	C	11: 73,677,974 (GRCm39)	D70A	possibly damaging	Het
Or4c114	A	C	2: 88,904,808 (GRCm39)	I209S	possibly damaging	Het
Or5b120	G	T	19: 13,480,243 (GRCm39)	D179Y	probably damaging	Het
Or5b12b	A	T	19: 12,862,006 (GRCm39)	I254F	probably damaging	Het
Or8b48	A	T	9: 38,493,050 (GRCm39)	H159L	probably damaging	Het
Pikfyve	T	A	1: 65,286,364 (GRCm39)	I1201K	probably benign	Het
Plekhn1	T	G	4: 156,318,374 (GRCm39)	M83L	probably damaging	Het
Pnlip	G	T	19: 58,664,695 (GRCm39)	D212Y	probably damaging	Het
Pomt2	T	C	12: 87,174,152 (GRCm39)	N417S	probably damaging	Het
Pxylp1	T	A	9: 96,707,103 (GRCm39)	M360L	probably benign	Het
Rbak	G	A	5: 143,159,682 (GRCm39)	T457I	possibly damaging	Het
Runx2	A	T	17: 45,125,424 (GRCm39)	W31R	probably null	Het
Sec16a	T	A	2: 26,315,277 (GRCm39)	I1795F	probably damaging	Het
Sik2	A	T	9: 50,909,861 (GRCm39)	I64N	probably damaging	Het
Slc26a8	T	C	17: 28,857,371 (GRCm39)	E924G	possibly damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc45a4	C	A	15: 73,459,487 (GRCm39)	D174Y	probably damaging	Het
Slc6a6	A	C	6: 91,718,248 (GRCm39)	E354A	probably damaging	Het
Slc8a1	A	T	17: 81,956,524 (GRCm39)	S171R	probably damaging	Het
Srgap1	T	C	10: 121,640,858 (GRCm39)	I669M	probably benign	Het
Stk39	C	A	2: 68,240,471 (GRCm39)	A87S	possibly damaging	Het
Tasor	A	T	14: 27,183,608 (GRCm39)	N689I	probably damaging	Het
Tbx18	C	A	9: 87,587,317 (GRCm39)	S600I	possibly damaging	Het
Tesc	A	C	5: 118,193,025 (GRCm39)	K114Q	probably damaging	Het
Tll1	T	C	8: 64,554,915 (GRCm39)	D256G	probably damaging	Het
Tmem35b	T	A	4: 127,021,679 (GRCm39)	I45K	probably benign	Het
Tnks	T	C	8: 35,307,168 (GRCm39)	D1127G	probably damaging	Het
Trpm8	A	T	1: 88,289,802 (GRCm39)	D920V	probably null	Het
U2af1	A	T	17: 31,867,831 (GRCm39)	D79E	probably benign	Het
Zfp704	T	C	3: 9,535,977 (GRCm39)	D331G	probably damaging	Het
Znrf3	G	T	11: 5,232,442 (GRCm39)	P261Q	probably benign	Het
Zscan4b	A	T	7: 10,635,636 (GRCm39)	C202*	probably null	Het

Other mutations in Mmp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Mmp12	APN	9	7,358,307 (GRCm39)	missense	possibly damaging	0.57
IGL03047:Mmp12	APN	9	7,357,797 (GRCm39)	splice site	probably benign
IGL03224:Mmp12	APN	9	7,350,002 (GRCm39)	unclassified	probably benign
IGL03247:Mmp12	APN	9	7,348,631 (GRCm39)	missense	probably benign	0.05
R0050:Mmp12	UTSW	9	7,350,152 (GRCm39)	unclassified	probably benign
R0480:Mmp12	UTSW	9	7,350,016 (GRCm39)	missense	probably damaging	1.00
R0729:Mmp12	UTSW	9	7,358,290 (GRCm39)	missense	possibly damaging	0.82
R0800:Mmp12	UTSW	9	7,357,827 (GRCm39)	missense	possibly damaging	0.74
R1114:Mmp12	UTSW	9	7,358,289 (GRCm39)	missense	possibly damaging	0.69
R1441:Mmp12	UTSW	9	7,354,787 (GRCm39)	missense	probably damaging	0.98
R1765:Mmp12	UTSW	9	7,354,772 (GRCm39)	missense	probably damaging	1.00
R2071:Mmp12	UTSW	9	7,349,725 (GRCm39)	missense	probably damaging	1.00
R2102:Mmp12	UTSW	9	7,349,802 (GRCm39)	missense	probably damaging	1.00
R2882:Mmp12	UTSW	9	7,358,236 (GRCm39)	missense	probably damaging	1.00
R2936:Mmp12	UTSW	9	7,357,819 (GRCm39)	missense	probably benign
R4645:Mmp12	UTSW	9	7,347,515 (GRCm39)	missense	probably benign	0.04
R5210:Mmp12	UTSW	9	7,349,729 (GRCm39)	nonsense	probably null
R5499:Mmp12	UTSW	9	7,353,000 (GRCm39)	missense	probably benign	0.02
R5774:Mmp12	UTSW	9	7,354,823 (GRCm39)	missense	possibly damaging	0.84
R5778:Mmp12	UTSW	9	7,350,106 (GRCm39)	missense	probably damaging	1.00
R5841:Mmp12	UTSW	9	7,347,501 (GRCm39)	missense	possibly damaging	0.93
R5869:Mmp12	UTSW	9	7,348,446 (GRCm39)	intron	probably benign
R6044:Mmp12	UTSW	9	7,350,050 (GRCm39)	missense	possibly damaging	0.94
R6494:Mmp12	UTSW	9	7,353,479 (GRCm39)	missense	probably damaging	0.99
R6651:Mmp12	UTSW	9	7,355,345 (GRCm39)	missense	possibly damaging	0.62
R7057:Mmp12	UTSW	9	7,369,173 (GRCm39)	missense	probably benign	0.33
R8938:Mmp12	UTSW	9	7,348,446 (GRCm39)	intron	probably benign
R9024:Mmp12	UTSW	9	7,355,444 (GRCm39)	missense	probably damaging	1.00
R9630:Mmp12	UTSW	9	7,347,516 (GRCm39)	missense	probably benign	0.02
X0062:Mmp12	UTSW	9	7,353,013 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCAAGTTCTGATTCCTAGGTGTC -3'
(R):5'- TGCCATGTGACACTGACAGG -3'

Sequencing Primer
(F):5'- AGGAAGGATGAGTGTGTTCT -3'
(R):5'- GGCAACTTTTCTCAGGCTCAAG -3'

Posted On

2019-05-13