Mutagenetix > Incidental Mutation

Incidental Mutation 'R7788:Mmp15'

599671

Institutional Source

Beutler Lab

Gene Symbol

Mmp15

Ensembl Gene

ENSMUSG00000031790

Gene Name

matrix metallopeptidase 15

Synonyms

Membrane type 2-MMP, MT2-MMP

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95352268-95375080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95368148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 217 (H217N)

Ref Sequence

ENSEMBL: ENSMUSP00000034243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034243]

AlphaFold

O54732

Predicted Effect

probably damaging
Transcript: ENSMUST00000034243
AA Change: H217N

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

SMART Domains

Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: H217N

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:PG_binding_1	42	102	3.2e-13	PFAM
ZnMc	131	301	5.31e-59	SMART
low complexity region	306	353	N/A	INTRINSIC
HX	370	413	5.92e-8	SMART
HX	415	459	2.31e-10	SMART
HX	462	508	2.98e-13	SMART
HX	510	555	2.01e-10	SMART
Pfam:DUF3377	586	657	1.2e-32	PFAM

Meta Mutation Damage Score

0.9382

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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. A deficiency of the encoded protein in mice is compatible with normal development and postnatal growth. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,156,593	H473L	possibly damaging	Het
Adam7	A	T	14: 68,512,645	V442E	possibly damaging	Het
Adgrv1	A	T	13: 81,573,314	V715D	probably damaging	Het
Aldh1l1	A	C	6: 90,569,912	D399A	probably benign	Het
Ankrd23	T	C	1: 36,531,727	N274S	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Arpc4	A	T	6: 113,385,604	M149L	probably benign	Het
Bdp1	T	C	13: 100,055,251	T1407A	possibly damaging	Het
Calml3	A	T	13: 3,804,121	I28N	probably damaging	Het
Cdhr3	A	G	12: 33,060,320	S322P	probably damaging	Het
Cntn5	A	G	9: 9,704,929	S622P	probably benign	Het
Col22a1	A	G	15: 71,952,317		probably null	Het
Csf2rb2	A	T	15: 78,292,841	I143N	probably benign	Het
Cwh43	T	C	5: 73,415,034	L205P	probably damaging	Het
Dennd5b	T	C	6: 149,068,566	T52A	probably benign	Het
Dhx40	A	G	11: 86,775,676	I597T	possibly damaging	Het
Dnajc21	A	G	15: 10,460,047	L268P	probably damaging	Het
Dzip1	A	T	14: 118,883,393	D717E	probably benign	Het
Elmo3	A	G	8: 105,308,244	N389D	probably damaging	Het
Evi2a	T	C	11: 79,527,942	E14G	unknown	Het
Fam149a	T	A	8: 45,381,517	R82W	probably damaging	Het
Farp1	A	T	14: 121,276,253	E820V	probably benign	Het
Fgd5	T	A	6: 91,988,459	S400T	possibly damaging	Het
Flnc	G	A	6: 29,456,444	V2214I	possibly damaging	Het
Galnt4	C	A	10: 99,109,113	N233K	possibly damaging	Het
Gbp5	A	G	3: 142,503,080	Y128C	probably damaging	Het
Gm12394	A	T	4: 42,793,546	H195Q	possibly damaging	Het
Gm4871	G	A	5: 145,032,610	T33I	probably benign	Het
Gm5592	T	C	7: 41,286,694	S207P	probably benign	Het
Gm9573	A	T	17: 35,618,906	S1463T	unknown	Het
Gtf2ird1	A	T	5: 134,417,131	C15*	probably null	Het
Ick	G	C	9: 78,167,620	V586L	probably benign	Het
Ido2	T	A	8: 24,547,226	I155F	probably damaging	Het
Ifi27l2b	A	T	12: 103,457,009		probably null	Het
Il15ra	C	T	2: 11,723,593	T49I	probably damaging	Het
Itpr3	T	A	17: 27,118,597	C2460*	probably null	Het
Kcnj11	T	C	7: 46,099,755	N48S	probably damaging	Het
Lmo7	A	C	14: 101,898,576	N695T	possibly damaging	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Myo5c	A	T	9: 75,279,345	D991V	probably damaging	Het
Nfkbid	T	A	7: 30,427,178	N396K	probably damaging	Het
Oas1c	A	G	5: 120,801,042	F361L	probably benign	Het
Olfr22-ps1	A	T	11: 73,955,122	Y144F	probably benign	Het
Olfr433	A	G	1: 174,042,084	I45V	probably benign	Het
Osbpl9	T	C	4: 109,062,494	K606E	probably benign	Het
Pkp2	C	A	16: 16,225,408	L111I	probably benign	Het
Pogz	A	G	3: 94,875,233	Y635C	probably damaging	Het
Prdx2	A	G	8: 84,971,674	T165A	probably benign	Het
Ptcd3	T	C	6: 71,885,557	I465V	probably benign	Het
Ptprd	G	A	4: 75,998,604	T770I	probably damaging	Het
Rapgef6	A	G	11: 54,694,399	Y1541C	probably damaging	Het
Rilpl1	A	T	5: 124,496,137		probably null	Het
Rimbp3	T	A	16: 17,212,704	Y1331N	probably benign	Het
Sav1	T	C	12: 69,984,221	R176G	probably damaging	Het
Sirt5	A	G	13: 43,383,147	H219R	probably benign	Het
Skint5	T	G	4: 113,546,518	D1169A	unknown	Het
Slfn9	G	T	11: 82,982,641	Q479K	possibly damaging	Het
Soga1	C	T	2: 157,027,584	A1044T	probably benign	Het
Susd4	T	C	1: 182,895,202	I483T	possibly damaging	Het
Tmem156	C	T	5: 65,075,569	V217I	possibly damaging	Het
Tmem79	A	G	3: 88,332,642	Y254H	probably benign	Het
Tmprss2	T	A	16: 97,576,229	K223*	probably null	Het
Trav3-1	T	C	14: 52,581,124	V85A	probably damaging	Het
Ttn	T	C	2: 76,885,756		probably null	Het
Vmn2r22	T	C	6: 123,637,600	I344V	not run	Het
Vps13c	A	T	9: 67,940,483	M2176L	probably benign	Het
Wdfy3	A	T	5: 101,848,357	V3213D	probably damaging	Het
Zbtb21	G	A	16: 97,951,454	T543M	possibly damaging	Het
Zc3hav1	A	T	6: 38,332,756	V377D	probably benign	Het
Zswim3	T	C	2: 164,819,779	C60R	probably damaging	Het

Other mutations in Mmp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Mmp15	APN	8	95366331	missense	probably benign	0.31
IGL03001:Mmp15	APN	8	95368217	missense	probably damaging	0.97
R0147:Mmp15	UTSW	8	95372317	missense	probably benign	0.18
R0148:Mmp15	UTSW	8	95372317	missense	probably benign	0.18
R0437:Mmp15	UTSW	8	95370772	missense	probably benign	0.04
R0465:Mmp15	UTSW	8	95367998	missense	probably damaging	1.00
R0548:Mmp15	UTSW	8	95372351	missense	probably damaging	1.00
R0574:Mmp15	UTSW	8	95365401	missense	possibly damaging	0.73
R0685:Mmp15	UTSW	8	95372134	missense	possibly damaging	0.81
R0763:Mmp15	UTSW	8	95368228	missense	probably benign	0.01
R1341:Mmp15	UTSW	8	95372303	missense	probably benign	0.03
R1428:Mmp15	UTSW	8	95369562	missense	probably benign	0.34
R1840:Mmp15	UTSW	8	95365420	missense	probably damaging	1.00
R2061:Mmp15	UTSW	8	95370779	missense	possibly damaging	0.91
R2219:Mmp15	UTSW	8	95370173	missense	probably benign	0.38
R4760:Mmp15	UTSW	8	95368196	missense	possibly damaging	0.61
R4762:Mmp15	UTSW	8	95372330	missense	probably benign	0.00
R5233:Mmp15	UTSW	8	95371068	missense	probably benign	0.08
R5394:Mmp15	UTSW	8	95366404	missense	probably damaging	0.96
R5502:Mmp15	UTSW	8	95368184	missense	possibly damaging	0.96
R5543:Mmp15	UTSW	8	95368101	missense	possibly damaging	0.85
R6027:Mmp15	UTSW	8	95372176	missense	probably benign	0.00
R6341:Mmp15	UTSW	8	95365463	critical splice donor site	probably null
R6720:Mmp15	UTSW	8	95365314	missense	probably benign	0.22
R8033:Mmp15	UTSW	8	95367962	missense	probably benign	0.01
R8679:Mmp15	UTSW	8	95366354	missense	possibly damaging	0.83
R8791:Mmp15	UTSW	8	95369660	nonsense	probably null
R9028:Mmp15	UTSW	8	95369688	missense	probably benign	0.01
R9227:Mmp15	UTSW	8	95366331	missense	probably benign	0.06
R9230:Mmp15	UTSW	8	95366331	missense	probably benign	0.06
R9350:Mmp15	UTSW	8	95366374	missense	probably damaging	0.97
R9632:Mmp15	UTSW	8	95372103	critical splice acceptor site	probably null
R9695:Mmp15	UTSW	8	95370786	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- GCTGGTACAACTCCATGGAG -3'
(R):5'- GCTTCAGAGTCATGAATAGGGGAC -3'

Sequencing Primer
(F):5'- TACAACTCCATGGAGGCGGTG -3'
(R):5'- GAGTCATGAATAGGGGACATTCTCTC -3'

Posted On

2019-11-26