Mutagenetix > Incidental Mutation

Incidental Mutation 'R5485:Mmp27'

432524

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

043046-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7573362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 152 (W152R)

Ref Sequence

ENSEMBL: ENSMUSP00000117469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018765] [ENSMUST00000120900] [ENSMUST00000151853]

AlphaFold

D3YV89

Predicted Effect

probably benign
Transcript: ENSMUST00000018765

SMART Domains

Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:PG_binding_1	28	86	2e-13	PFAM
ZnMc	104	263	4.38e-60	SMART
HX	285	327	7.51e-10	SMART
HX	329	372	2.16e-10	SMART
HX	377	422	5.91e-17	SMART
HX	424	464	2.99e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120900
AA Change: W152R

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

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: W152R

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: W152R

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

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: W152R

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: W150R

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: W150R

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

0.8951

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.6%

Validation Efficiency

98% (59/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,517,378	V85D	probably benign	Het
Abcb8	A	G	5: 24,400,161	N115S	probably benign	Het
Appl1	C	A	14: 26,962,866	L75F	probably damaging	Het
Atp13a5	A	G	16: 29,281,942		probably null	Het
Atp2c2	T	A	8: 119,753,062		probably null	Het
Cfap54	T	A	10: 93,029,117	I94F	probably damaging	Het
Clasp1	A	G	1: 118,467,913	I194V	possibly damaging	Het
Crebbp	A	C	16: 4,114,913	D1000E	probably benign	Het
Ctdnep1	C	T	11: 69,981,490	R3W	possibly damaging	Het
Dgkb	T	C	12: 38,127,364	V230A	probably damaging	Het
Duoxa2	T	C	2: 122,299,152	F38L	possibly damaging	Het
Ecd	T	C	14: 20,338,205	S172G	probably benign	Het
Endog	G	T	2: 30,171,651		probably benign	Het
Eqtn	G	A	4: 94,924,956	P131L	possibly damaging	Het
Gabbr1	T	A	17: 37,056,875	S290T	possibly damaging	Het
Glt8d2	T	A	10: 82,651,448	R319S	possibly damaging	Het
Gm16686	A	G	4: 88,755,404		probably benign	Het
Gm5709	A	T	3: 59,635,562		noncoding transcript	Het
Gm7381	T	C	8: 3,842,161		noncoding transcript	Het
Gorab	T	G	1: 163,386,302	D353A	possibly damaging	Het
Gstm1	A	G	3: 108,017,404	L20P	probably damaging	Het
Hexim2	A	G	11: 103,139,058	D312G	probably benign	Het
Hfm1	A	G	5: 106,847,662		probably null	Het
Mbd4	C	A	6: 115,850,718	A66S	probably benign	Het
Mogat1	A	G	1: 78,523,670	T124A	probably benign	Het
Mrps18b	A	T	17: 35,914,344	V102D	probably damaging	Het
Olfr1513	A	T	14: 52,349,319	C242*	probably null	Het
Peg10	T	A	6: 4,755,565	M47K	probably benign	Het
Plxnc1	T	G	10: 94,922,742	Q364P	probably benign	Het
Psd	A	T	19: 46,316,089		probably null	Het
Rims1	T	G	1: 22,483,208	I470L	possibly damaging	Het
Sbsn	T	C	7: 30,753,117	V519A	possibly damaging	Het
Senp1	A	G	15: 98,066,496	V279A	probably benign	Het
Sfxn5	T	A	6: 85,332,600		probably benign	Het
Slc6a13	T	A	6: 121,336,073	M483K	probably damaging	Het
Slc6a21	G	A	7: 45,282,542		probably null	Het
Slco6c1	T	C	1: 97,125,756	Y140C	probably damaging	Het
Spata32	A	G	11: 103,209,296	S128P	probably damaging	Het
Spty2d1	G	T	7: 46,997,885	T432K	possibly damaging	Het
Stx8	A	G	11: 68,020,966	Q170R	probably benign	Het
Sytl3	G	A	17: 6,715,480	V112I	probably benign	Het
Tdrkh	A	G	3: 94,428,712	I420V	probably benign	Het
Tmem117	T	C	15: 95,094,830	V457A	probably benign	Het
Tpk1	T	C	6: 43,665,812		probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 102,095,213		probably null	Het
Tsen54	A	G	11: 115,815,222	E90G	probably benign	Het
Ugt1a2	A	T	1: 88,201,246	M204L	probably damaging	Het
Vmn2r17	A	T	5: 109,420,106	I32F	probably benign	Het
Xkr6	T	C	14: 63,819,384	V248A	unknown	Het
Zfhx4	C	A	3: 5,243,007	S431Y	probably damaging	Het
Zfp318	T	A	17: 46,412,254	S1728T	possibly damaging	Het
Zfp563	T	C	17: 33,089,566		probably benign	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
R4938:Mmp27	UTSW	9	7578982	missense	probably damaging	0.97
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
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'- GCTGTCTCATTTAAATAAAGCTGGAGC -3'
(R):5'- TGAGTGTCACCACCTAGACC -3'

Sequencing Primer
(F):5'- TGGAGCACAGCACAATGTTAC -3'
(R):5'- ATGGCCAAGGACTCCCAGAG -3'

Posted On

2016-10-05