Mutagenetix > Incidental Mutation

Incidental Mutation 'R0662:Mmp27'

61900

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

038847-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0662 (G1)

Quality Score

109

Status

Not validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7577650 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 281 (V281E)

Ref Sequence

ENSEMBL: ENSMUSP00000113231 (fasta)

Gene Model

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

AlphaFold

D3YV89

Predicted Effect

probably benign
Transcript: ENSMUST00000093896
AA Change: V307E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091423
Gene: ENSMUSG00000070323
AA Change: V307E

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

probably benign
Transcript: ENSMUST00000120900
AA Change: V281E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: V281E

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 benign
Transcript: ENSMUST00000151853
AA Change: V307E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: V307E

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: V225E

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: V225E

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.5%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,920,938	S241P	probably benign	Het
Ankrd53	G	T	6: 83,763,643	V83L	probably damaging	Het
Armcx2	G	A	X: 134,805,636	T416I	possibly damaging	Het
C4b	G	A	17: 34,730,888	R1441C	probably damaging	Het
Cacng3	T	C	7: 122,768,359	I154T	probably damaging	Het
Cand2	A	G	6: 115,787,210	D315G	probably benign	Het
Celsr2	A	T	3: 108,398,520	S2089R	probably damaging	Het
Chd9	A	C	8: 90,977,676	K247Q	probably damaging	Het
Chil1	A	C	1: 134,188,573	S263R	probably damaging	Het
Clec12b	A	C	6: 129,376,237	C262W	probably damaging	Het
Cpsf7	T	C	19: 10,526,008	M1T	probably null	Het
Cul3	T	C	1: 80,271,565	D597G	probably damaging	Het
Dcaf11	T	C	14: 55,565,507	V251A	possibly damaging	Het
Eno2	A	T	6: 124,763,811	F218I	probably damaging	Het
Frmd6	A	T	12: 70,899,444	R549*	probably null	Het
Fyb2	G	A	4: 104,995,698	S461N	possibly damaging	Het
Gm5709	A	T	3: 59,606,743		noncoding transcript	Het
Hormad1	T	C	3: 95,575,599	I132T	probably benign	Het
Itga7	G	T	10: 128,953,531	R981L	probably damaging	Het
Itgbl1	T	A	14: 123,827,894	N153K	probably damaging	Het
Itih1	T	C	14: 30,933,360	E626G	possibly damaging	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,662,349		probably benign	Het
Kcna2	A	T	3: 107,105,401	T433S	probably benign	Het
Map4k5	A	G	12: 69,813,153	V673A	probably damaging	Het
Nr2c1	A	T	10: 94,190,738	I492F	probably damaging	Het
Olfr131	A	G	17: 38,082,933	I15T	probably benign	Het
Olfr292	A	G	7: 86,694,630	Y58C	possibly damaging	Het
Olfr457	C	T	6: 42,471,774	V135M	possibly damaging	Het
Olfr703	A	T	7: 106,844,649	I13F	probably benign	Het
Olfr77	G	C	9: 19,920,500	C97S	probably damaging	Het
Olfr862	T	C	9: 19,883,952	M118V	probably benign	Het
Olfr911-ps1	T	A	9: 38,524,026	M98K	probably damaging	Het
Pank3	T	C	11: 35,778,650	M237T	probably damaging	Het
Plekhh1	A	G	12: 79,078,993	T1268A	probably benign	Het
Ptchd4	A	G	17: 42,502,576	Y456C	probably damaging	Het
Rhcg	C	T	7: 79,599,729	V310M	probably damaging	Het
Ryr1	A	T	7: 29,100,189	D906E	probably damaging	Het
Sez6l	A	T	5: 112,473,422	L262Q	probably damaging	Het
Shprh	G	A	10: 11,186,847	V1233I	probably damaging	Het
Slc3a1	A	G	17: 85,037,207	E267G	possibly damaging	Het
Slc5a5	T	A	8: 70,883,875	T616S	probably benign	Het
St5	G	T	7: 109,557,426	P39Q	probably damaging	Het
Syne3	T	G	12: 104,961,510	E318A	probably benign	Het
Tecpr2	A	G	12: 110,896,228	T25A	probably benign	Het
Ubxn1	T	A	19: 8,875,197		probably null	Het
Unc5b	C	A	10: 60,772,583	R616L	possibly damaging	Het
Ush2a	A	G	1: 188,351,093	T278A	probably benign	Het
Utp14b	A	G	1: 78,664,999	T205A	probably damaging	Het
Vmn1r219	T	C	13: 23,163,453	S271P	possibly damaging	Het
Vmn2r76	C	T	7: 86,230,370	V241M	probably benign	Het
Zbtb24	G	A	10: 41,462,279	G429D	probably damaging	Het
Zdhhc2	T	C	8: 40,447,098	S68P	probably damaging	Het
Zfp719	G	A	7: 43,584,254	M32I	possibly damaging	Het
Zfp975	T	C	7: 42,662,526	N221S	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
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
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'- TGATCAAACAGCCTTGATGTTCCCC -3'
(R):5'- GGTACATGCTCAGCAACTGGCTTTC -3'

Sequencing Primer
(F):5'- TAGCAAATACCCACTTTCTCAGGATG -3'
(R):5'- AACTTCCCTGCGGAAAGTAGTG -3'

Posted On

2013-07-30