Mutagenetix > Incidental Mutation

Incidental Mutation 'R4938:Mmp27'

382849

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

042537-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 7578982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 412 (R412I)

Ref Sequence

ENSEMBL: ENSMUSP00000117469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120900] [ENSMUST00000151853]

AlphaFold

D3YV89

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120900
AA Change: R386I

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: R386I

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	40	100	1e-13	PFAM
ZnMc	116	277	1.76e-50	SMART
HX	300	342	5.97e-4	SMART
HX	344	386	1.1e-7	SMART
HX	391	438	1.09e-6	SMART
HX	440	480	3.2e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000151853
AA Change: R412I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: R412I

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	40	100	1.1e-13	PFAM
ZnMc	116	303	1.81e-43	SMART
HX	326	368	5.97e-4	SMART
HX	370	412	1.1e-7	SMART
HX	417	464	1.09e-6	SMART
HX	466	506	3.2e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000152878
AA Change: R330I

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: R330I

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	39	99	1.1e-13	PFAM
ZnMc	115	295	1.41e-13	SMART
HX	245	287	5.97e-4	SMART
HX	289	331	1.1e-7	SMART
HX	336	383	1.09e-6	SMART
HX	385	425	3.2e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl14ep	G	T	2: 106,969,318	H59Q	probably damaging	Het
Atp6v0a4	T	A	6: 38,078,814	I321F	possibly damaging	Het
Cdr2l	A	G	11: 115,393,825	D329G	possibly damaging	Het
Cep55	A	G	19: 38,069,916	E319G	probably damaging	Het
Cfhr2	C	T	1: 139,813,527	V237I	probably benign	Het
Clasrp	A	G	7: 19,584,778		probably null	Het
Col12a1	C	A	9: 79,700,350	E399*	probably null	Het
Cyp19a1	T	A	9: 54,173,363	I237F	probably benign	Het
Dnajc6	T	G	4: 101,636,813	N847K	probably damaging	Het
E330013P04Rik	C	G	19: 60,162,021		noncoding transcript	Het
Entpd2	A	G	2: 25,399,417	T304A	probably benign	Het
Etl4	A	G	2: 20,798,649	T779A	probably benign	Het
Fam107b	A	T	2: 3,772,870	I35L	probably benign	Het
Fam196b	G	A	11: 34,402,231	G91E	probably damaging	Het
Fgg	A	T	3: 83,012,868	Y318F	probably benign	Het
Fitm1	A	C	14: 55,576,619	T191P	probably damaging	Het
Fras1	A	G	5: 96,776,724	M3675V	probably damaging	Het
Fry	C	T	5: 150,477,989	R731W	probably damaging	Het
Galnt17	A	T	5: 131,306,399	S68T	probably benign	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Grm1	C	T	10: 10,936,513	A256T	probably damaging	Het
Hoxd13	A	G	2: 74,668,683	Y125C	probably benign	Het
Hspa14	A	T	2: 3,491,609	I373K	probably benign	Het
Ifnlr1	A	G	4: 135,705,282	E343G	probably benign	Het
Ighv5-9	A	G	12: 113,661,962	S54P	probably benign	Het
Irf2bpl	A	G	12: 86,882,118	S594P	possibly damaging	Het
Kcnq2	A	G	2: 181,086,973	S548P	probably damaging	Het
Lrp2	G	A	2: 69,472,368	R3006W	probably damaging	Het
Lrrc4c	A	T	2: 97,629,301	I91F	probably damaging	Het
Mdh1b	T	C	1: 63,711,504	D435G	probably benign	Het
Mettl3	A	T	14: 52,299,727	S182T	probably damaging	Het
Mllt6	A	G	11: 97,678,407	T862A	probably benign	Het
Mstn	A	G	1: 53,066,423	N308S	possibly damaging	Het
Ncapg	A	G	5: 45,671,209	T101A	probably benign	Het
Ngf	C	T	3: 102,520,474	R180W	probably damaging	Het
Notch1	G	A	2: 26,474,124	Q862*	probably null	Het
Nsrp1	T	C	11: 77,045,744	D542G	probably damaging	Het
Nup214	C	A	2: 31,983,159	T255K	probably benign	Het
Olfr1444	T	A	19: 12,862,552	M259K	probably damaging	Het
Olfr902	T	A	9: 38,449,383	D170E	probably benign	Het
Papln	C	T	12: 83,782,903	P911S	probably benign	Het
Pdxdc1	A	G	16: 13,876,069	V163A	probably benign	Het
Plekhj1	A	T	10: 80,797,775	I76N	probably damaging	Het
Pnp2	A	G	14: 50,963,568		probably null	Het
Polr3gl	T	C	3: 96,579,892	E89G	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prss37	A	G	6: 40,514,983	I221T	possibly damaging	Het
Ptx4	C	T	17: 25,123,165	Q205*	probably null	Het
Qsox1	T	C	1: 155,779,668	E583G	probably benign	Het
Riok3	T	A	18: 12,155,243	N492K	probably benign	Het
Sec13	A	G	6: 113,735,192	W61R	probably damaging	Het
Slc20a2	T	C	8: 22,561,205	V418A	possibly damaging	Het
Smad9	G	A	3: 54,789,230	V239I	probably benign	Het
Stmn2	A	G	3: 8,545,732	E92G	probably damaging	Het
Taf1c	A	G	8: 119,598,798	V775A	probably benign	Het
Thsd7a	T	A	6: 12,330,992	I1384L	probably benign	Het
Tnxb	A	G	17: 34,713,632	Y2275C	probably damaging	Het
Trmo	G	T	4: 46,382,388	T243N	probably benign	Het
Tyrp1	C	T	4: 80,840,646	A252V	probably damaging	Het
Vasp	T	C	7: 19,257,717	*376W	probably null	Het
Vmn1r231	T	C	17: 20,890,351	I101V	possibly damaging	Het
Zfp532	T	C	18: 65,623,766	S257P	probably benign	Het
Zfp563	G	A	17: 33,105,709	C426Y	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,911,044		probably null	Het
Zfp703	C	A	8: 26,979,773	H488Q	probably damaging	Het
Zfp964	A	G	8: 69,664,108	N452D	possibly damaging	Het
Zfyve28	A	C	5: 34,233,354	Y188D	probably damaging	Het

Other mutations in Mmp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Mmp27	APN	9	7573504	splice site	probably benign
IGL00656:Mmp27	APN	9	7581382	missense	possibly damaging	0.80
IGL00937:Mmp27	APN	9	7578899	critical splice acceptor site	probably benign	0.00
IGL01101:Mmp27	APN	9	7573415	missense	probably damaging	1.00
IGL01134:Mmp27	APN	9	7573297	missense	probably benign	0.06
IGL01631:Mmp27	APN	9	7573288	critical splice acceptor site	probably benign	0.00
IGL02967:Mmp27	APN	9	7571590	missense	probably benign	0.03
IGL03024:Mmp27	APN	9	7581376	missense	probably benign	0.17
R0662:Mmp27	UTSW	9	7577650	missense	probably benign	0.00
R0715:Mmp27	UTSW	9	7581155	splice site	probably benign
R0826:Mmp27	UTSW	9	7579009	missense	probably damaging	1.00
R1191:Mmp27	UTSW	9	7579066	splice site	probably null
R1793:Mmp27	UTSW	9	7571458	start codon destroyed	probably null	0.00
R1983:Mmp27	UTSW	9	7578897	splice site	probably null
R2074:Mmp27	UTSW	9	7577739	missense	possibly damaging	0.50
R2172:Mmp27	UTSW	9	7577378	nonsense	probably null
R2445:Mmp27	UTSW	9	7581181	missense	probably benign	0.12
R2961:Mmp27	UTSW	9	7573602	missense	probably damaging	1.00
R4825:Mmp27	UTSW	9	7581194	missense	probably damaging	1.00
R4888:Mmp27	UTSW	9	7581368	missense	probably benign	0.00
R5095:Mmp27	UTSW	9	7572158	missense	probably damaging	1.00
R5095:Mmp27	UTSW	9	7579000	missense	probably damaging	1.00
R5121:Mmp27	UTSW	9	7581368	missense	probably benign	0.00
R5446:Mmp27	UTSW	9	7573515	splice site	probably benign
R5485:Mmp27	UTSW	9	7573362	missense	probably damaging	1.00
R5516:Mmp27	UTSW	9	7579062	missense	probably null	1.00
R6682:Mmp27	UTSW	9	7573605	missense	probably benign	0.02
R6712:Mmp27	UTSW	9	7572176	missense	probably damaging	1.00
R6737:Mmp27	UTSW	9	7571954	missense	possibly damaging	0.78
R7282:Mmp27	UTSW	9	7578230	missense	probably damaging	0.98
R7368:Mmp27	UTSW	9	7577317	missense	probably damaging	1.00
R7689:Mmp27	UTSW	9	7579001	missense	probably damaging	1.00
R8006:Mmp27	UTSW	9	7578984	missense	probably damaging	0.97
R8185:Mmp27	UTSW	9	7573491	missense	unknown
R8537:Mmp27	UTSW	9	7579775	missense	probably benign	0.00
R9039:Mmp27	UTSW	9	7581249	missense	probably benign	0.01
R9087:Mmp27	UTSW	9	7579857	missense	probably damaging	1.00
R9188:Mmp27	UTSW	9	7579791	missense	possibly damaging	0.55
R9280:Mmp27	UTSW	9	7579811	missense	probably benign	0.09
R9367:Mmp27	UTSW	9	7573549	missense	probably damaging	1.00
X0021:Mmp27	UTSW	9	7573298	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAATAGAGGCATGAGATTACTGG -3'
(R):5'- GATTGCCGGCAACACAATCC -3'

Sequencing Primer
(F):5'- CATGAGATTACTGGGTTGGCAGC -3'
(R):5'- CCACTGGGAGACTGTAGATTTG -3'

Posted On

2016-04-27