Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Mmp27'

78238

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7579009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 339 (V339A)

Gene Model

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

AlphaFold

D3YV89

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093896
AA Change: V421A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091423
Gene: ENSMUSG00000070323
AA Change: V421A

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	40	100	1.4e-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

possibly damaging
Transcript: ENSMUST00000120900
AA Change: V395A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: V395A

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

possibly damaging
Transcript: ENSMUST00000151853
AA Change: V421A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: V421A

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

probably damaging
Transcript: ENSMUST00000152878
AA Change: V339A

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

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: V339A

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

0.4006

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
4930563D23Rik	G	A	16: 92,321,187	S71L	probably benign	Het
4931406C07Rik	T	C	9: 15,291,996		probably null	Het
Adamts16	T	A	13: 70,768,692	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,076,284	L133*	probably null	Het
Arfgef3	G	A	10: 18,589,666	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,930,743	T333A	probably benign	Het
Arhgef40	A	G	14: 52,000,993	T1310A	probably benign	Het
Atg10	C	T	13: 90,936,586		probably null	Het
Atp1a1	A	G	3: 101,584,853	F569S	probably damaging	Het
Baiap3	A	G	17: 25,245,229	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,930,312	Y9*	probably null	Het
Catsperg2	C	T	7: 29,705,624	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,584,301		probably benign	Het
Col11a1	G	A	3: 114,138,765	R113H	unknown	Het
Col19a1	T	C	1: 24,526,386	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,799,417		probably benign	Het
Cttnbp2	A	G	6: 18,405,178		probably benign	Het
Dnah1	T	A	14: 31,303,907	I828F	probably benign	Het
Dpf2	G	T	19: 5,907,127	Q23K	probably damaging	Het
Dsc3	T	A	18: 19,981,172	I342F	probably damaging	Het
Enpp3	A	G	10: 24,795,716	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,504,192	E871G	probably damaging	Het
Exoc2	T	C	13: 30,856,797		probably null	Het
Fpr-rs7	A	T	17: 20,113,626	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,216,955	F685S	probably damaging	Het
Helz2	C	T	2: 181,240,853	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kif21a	A	G	15: 90,997,541		probably null	Het
Lamb3	T	A	1: 193,330,908	C480*	probably null	Het
Lamc2	A	G	1: 153,152,082	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,360,251	N183S	probably benign	Het
Lsm14a	C	A	7: 34,371,045		probably benign	Het
Mest	C	A	6: 30,742,814	H146Q	probably damaging	Het
Myo16	T	C	8: 10,376,285		probably benign	Het
Myoz1	C	T	14: 20,653,611		probably benign	Het
Nlrp5	A	G	7: 23,417,708	M286V	probably benign	Het
Olfr1250	A	C	2: 89,656,837	N201K	possibly damaging	Het
Olfr1386	A	T	11: 49,470,331	Y60F	probably damaging	Het
Olfr1537	C	T	9: 39,238,429	M1I	probably null	Het
Olfr273	C	T	4: 52,855,566	V316I	probably benign	Het
Optc	T	C	1: 133,905,155	K69R	probably benign	Het
Osbpl3	A	T	6: 50,346,377	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,668,401	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,195,673	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,230,553	A202S	possibly damaging	Het
Rab32	A	T	10: 10,550,867	F112I	possibly damaging	Het
Ror2	T	C	13: 53,113,217	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,467,880		probably benign	Het
Sbk1	C	T	7: 126,291,835	P147L	probably damaging	Het
Shpk	T	A	11: 73,204,031	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,128,101	S25N	probably benign	Het
Snx2	A	T	18: 53,194,522	T107S	probably benign	Het
Tle2	G	A	10: 81,586,314	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,898,417	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,285,138		probably benign	Het
Tpmt	T	C	13: 47,041,489	E36G	probably benign	Het
Trim30c	T	A	7: 104,383,481	T257S	probably benign	Het
Tsc2	A	G	17: 24,596,958	L150P	probably benign	Het
Ttc26	A	G	6: 38,425,114		probably null	Het
Upf3a	G	C	8: 13,798,338	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,193,216	K514*	probably null	Het
Zfp11	A	G	5: 129,657,525	Y291H	probably benign	Het
Zfp457	T	C	13: 67,293,314	D399G	possibly 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
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
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'- TCTTCCTCCCTGTAAGACACAGAGC -3'
(R):5'- AGATGCCACCGTACCAAACTTTGAC -3'

Sequencing Primer
(F):5'- GCAAAAGACATCTGAAGAGATCC -3'
(R):5'- AAGTGTCATACACTGGAGATTGCC -3'

Posted On

2013-10-16