Mutagenetix > Incidental Mutation

Incidental Mutation 'R4825:Mmp27'

371411

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

042441-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7571397-7581886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7581195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 460 (E460G)

Ref Sequence

ENSEMBL: ENSMUSP00000113231 (fasta)

Gene Model

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

AlphaFold

D3YV89

Predicted Effect

probably damaging
Transcript: ENSMUST00000120900
AA Change: E460G

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

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: E460G

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: E486G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: E486G

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: E404G

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: E404G

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	C	A	11: 109,682,498 (GRCm39)	L229F	probably benign	Het
A930002H24Rik	A	C	17: 64,170,603 (GRCm39)	S62A	unknown	Het
Abca12	T	A	1: 71,341,844 (GRCm39)	Q1039L	possibly damaging	Het
Adgrg5	T	A	8: 95,668,362 (GRCm39)	F476I	possibly damaging	Het
Alms1	A	G	6: 85,655,227 (GRCm39)	K2789E	probably damaging	Het
Arrdc2	G	A	8: 71,291,921 (GRCm39)		probably null	Het
Atp2b1	T	A	10: 98,845,426 (GRCm39)	I743K	probably damaging	Het
Atp6v1c2	C	T	12: 17,339,061 (GRCm39)	G230D	probably benign	Het
AU040320	G	A	4: 126,685,586 (GRCm39)	C54Y	probably damaging	Het
BC024139	C	T	15: 76,004,517 (GRCm39)	V680I	possibly damaging	Het
Bckdhb	A	G	9: 83,870,958 (GRCm39)	D156G	probably damaging	Het
Bltp3a	G	A	17: 28,096,368 (GRCm39)	A107T	probably damaging	Het
Canx	T	A	11: 50,199,636 (GRCm39)	D143V	probably benign	Het
Ccdc180	T	A	4: 45,912,794 (GRCm39)	V591E	possibly damaging	Het
Ccno	T	C	13: 113,124,633 (GRCm39)	S68P	probably benign	Het
Cdc45	C	T	16: 18,603,613 (GRCm39)	E527K	probably damaging	Het
Cep290	T	A	10: 100,324,210 (GRCm39)	D14E	probably damaging	Het
Cgnl1	A	G	9: 71,537,806 (GRCm39)	V1238A	probably benign	Het
Ciz1	C	T	2: 32,261,753 (GRCm39)	A455V	probably damaging	Het
Coro2b	T	A	9: 62,361,905 (GRCm39)	Y86F	probably benign	Het
Csf2ra	C	T	19: 61,214,990 (GRCm39)	R158Q	probably benign	Het
Cubn	A	T	2: 13,330,036 (GRCm39)	I2615N	probably damaging	Het
Dhx8	C	T	11: 101,628,996 (GRCm39)	R129*	probably null	Het
Disc1	T	A	8: 125,862,041 (GRCm39)	M471K	possibly damaging	Het
Dmxl2	G	T	9: 54,311,325 (GRCm39)	L1799I	probably benign	Het
Dnah2	A	G	11: 69,314,031 (GRCm39)	S4108P	probably damaging	Het
Ecpas	G	A	4: 58,850,911 (GRCm39)	L421F	probably damaging	Het
Ehmt2	C	G	17: 35,125,940 (GRCm39)	P211R	probably benign	Het
Eif4g3	A	G	4: 137,921,392 (GRCm39)	D1557G	probably benign	Het
Epha5	T	C	5: 84,381,699 (GRCm39)	D384G	probably damaging	Het
Etl4	A	G	2: 20,811,738 (GRCm39)	I1274V	probably damaging	Het
Fhip1a	G	A	3: 85,580,739 (GRCm39)	P489S	possibly damaging	Het
Fip1l1	G	A	5: 74,748,866 (GRCm39)		probably null	Het
Fubp1	T	C	3: 151,923,527 (GRCm39)		probably null	Het
Glul	T	C	1: 153,778,790 (GRCm39)	V33A	probably benign	Het
Gm4846	A	G	1: 166,319,237 (GRCm39)	F167S	probably damaging	Het
Heatr6	T	A	11: 83,649,148 (GRCm39)	L168M	probably damaging	Het
Hif1a	T	A	12: 73,979,175 (GRCm39)	I233N	probably damaging	Het
Hivep2	T	A	10: 14,007,063 (GRCm39)	H1220Q	possibly damaging	Het
Igkv8-21	T	C	6: 70,292,410 (GRCm39)	I9M	probably benign	Het
Izumo1	T	A	7: 45,274,411 (GRCm39)	C62*	probably null	Het
Jakmip3	G	A	7: 138,628,495 (GRCm39)	E424K	probably damaging	Het
Klhl2	A	G	8: 65,205,847 (GRCm39)	V358A	probably damaging	Het
Klk10	C	G	7: 43,433,022 (GRCm39)	D139E	probably damaging	Het
Klk14	T	C	7: 43,341,500 (GRCm39)	C51R	probably damaging	Het
Klk1b5	T	G	7: 43,494,814 (GRCm39)	I99S	probably damaging	Het
L3hypdh	T	C	12: 72,124,167 (GRCm39)	T258A	probably benign	Het
Lrp5	A	G	19: 3,664,292 (GRCm39)	Y812H	probably damaging	Het
Lrrc40	T	A	3: 157,766,967 (GRCm39)	L474*	probably null	Het
Mkks	A	T	2: 136,722,575 (GRCm39)	M194K	probably benign	Het
Mmp20	A	G	9: 7,654,121 (GRCm39)	D347G	probably damaging	Het
Mms22l	T	C	4: 24,536,226 (GRCm39)	F605S	probably damaging	Het
Mpzl3	A	G	9: 44,979,627 (GRCm39)	S193G	probably benign	Het
Muc4	A	T	16: 32,570,565 (GRCm39)	T542S	probably benign	Het
Muc5b	T	C	7: 141,422,202 (GRCm39)	L4446P	possibly damaging	Het
Mxi1	C	A	19: 53,358,769 (GRCm39)	S131*	probably null	Het
Nanog	G	T	6: 122,690,299 (GRCm39)	A210S	probably benign	Het
Nrcam	C	T	12: 44,622,769 (GRCm39)	Q988*	probably null	Het
Nsg1	C	A	5: 38,316,391 (GRCm39)		probably benign	Het
Ogfod3	G	A	11: 121,086,027 (GRCm39)	A189V	probably benign	Het
Or10g9b	A	T	9: 39,918,038 (GRCm39)	M69K	possibly damaging	Het
Or12e9	T	A	2: 87,202,432 (GRCm39)	C185*	probably null	Het
Or4a68	A	G	2: 89,270,209 (GRCm39)	V138A	probably benign	Het
Or4c122	T	C	2: 89,079,034 (GRCm39)		probably null	Het
Or4c35	G	A	2: 89,808,497 (GRCm39)	C125Y	probably damaging	Het
Or51ai2	T	C	7: 103,586,710 (GRCm39)	V41A	probably benign	Het
Or52b4i	T	A	7: 102,191,587 (GRCm39)	V148E	possibly damaging	Het
Or5b111	A	T	19: 13,291,684 (GRCm39)		probably null	Het
Or7e165	T	G	9: 19,694,872 (GRCm39)	S148A	possibly damaging	Het
Or8b53	A	T	9: 38,667,703 (GRCm39)	T240S	probably damaging	Het
Orc3	A	T	4: 34,571,774 (GRCm39)	M665K	possibly damaging	Het
Pabpc1	A	G	15: 36,597,255 (GRCm39)	S591P	probably damaging	Het
Pacc1	A	T	1: 191,073,040 (GRCm39)	I154F	probably damaging	Het
Parp6	T	A	9: 59,531,645 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,322,912 (GRCm39)	M974V	possibly damaging	Het
Pcdhb22	T	A	18: 37,653,713 (GRCm39)	V727E	possibly damaging	Het
Pex5l	T	C	3: 33,047,134 (GRCm39)	E272G	probably damaging	Het
Pglyrp2	G	T	17: 32,637,235 (GRCm39)	N264K	probably benign	Het
Phxr4	T	A	9: 13,342,882 (GRCm39)		probably benign	Het
Piezo2	A	G	18: 63,278,025 (GRCm39)	F293S	probably damaging	Het
Pkhd1	T	C	1: 20,607,625 (GRCm39)	D1077G	probably damaging	Het
Plekhs1	A	G	19: 56,461,700 (GRCm39)		probably null	Het
Prex1	G	T	2: 166,427,777 (GRCm39)	C788*	probably null	Het
Prrt3	A	T	6: 113,475,099 (GRCm39)	M41K	probably benign	Het
Ptgir	T	C	7: 16,642,768 (GRCm39)	V326A	probably damaging	Het
Ptprg	T	A	14: 12,220,654 (GRCm38)	D455E	probably damaging	Het
Ptpru	T	A	4: 131,526,914 (GRCm39)	Q686L	probably benign	Het
Pxdc1	G	T	13: 34,814,343 (GRCm39)	T190K	probably benign	Het
Rap1b	A	T	10: 117,654,487 (GRCm39)	C118S	probably benign	Het
Rapgef2	T	C	3: 78,990,534 (GRCm39)	M915V	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpe65	C	T	3: 159,330,318 (GRCm39)	A495V	probably benign	Het
Samd15	A	G	12: 87,247,608 (GRCm39)	T98A	possibly damaging	Het
Sdk1	T	G	5: 141,568,049 (GRCm39)	D82E	probably benign	Het
Slc26a7	T	C	4: 14,546,309 (GRCm39)	D340G	probably benign	Het
Slc6a15	T	A	10: 103,253,921 (GRCm39)	M619K	probably benign	Het
Slc7a4	C	A	16: 17,392,385 (GRCm39)	D350Y	probably damaging	Het
Slk	T	G	19: 47,608,395 (GRCm39)	N449K	probably benign	Het
Spta1	A	T	1: 174,071,608 (GRCm39)		probably null	Het
Sptbn5	A	T	2: 119,886,374 (GRCm39)		probably benign	Het
Srd5a2	A	T	17: 74,354,800 (GRCm39)	V8D	probably benign	Het
Srgap3	G	A	6: 112,704,271 (GRCm39)	A906V	probably benign	Het
Stab2	A	T	10: 86,783,011 (GRCm39)	M679K	probably benign	Het
Stk3	T	C	15: 35,000,054 (GRCm39)	I291V	probably benign	Het
Supt6	T	A	11: 78,098,960 (GRCm39)	Q1637L	possibly damaging	Het
Svil	T	C	18: 5,114,564 (GRCm39)	F2047S	probably damaging	Het
Swsap1	A	G	9: 21,867,284 (GRCm39)	E76G	probably benign	Het
Syndig1	G	T	2: 149,741,473 (GRCm39)	G20C	probably damaging	Het
Synj2bp	A	T	12: 81,548,926 (GRCm39)	N104K	probably damaging	Het
Synpo2	T	A	3: 122,908,068 (GRCm39)	D416V	probably damaging	Het
Tacc3	G	T	5: 33,829,357 (GRCm39)	C620F	probably damaging	Het
Tanc1	A	G	2: 59,529,766 (GRCm39)	E19G	probably damaging	Het
Tars3	C	T	7: 65,297,302 (GRCm39)	A139V	probably benign	Het
Tbc1d22a	T	A	15: 86,235,935 (GRCm39)	C365S	probably damaging	Het
Tdpoz2	T	C	3: 93,559,381 (GRCm39)	H197R	possibly damaging	Het
Tha1	A	T	11: 117,760,205 (GRCm39)	N300K	probably damaging	Het
Tm6sf1	T	A	7: 81,515,008 (GRCm39)	F70L	probably damaging	Het
Tmem132b	T	A	5: 125,860,497 (GRCm39)	S581T	probably benign	Het
Tnfsf13	G	T	11: 69,576,075 (GRCm39)	S4*	probably null	Het
Tonsl	G	A	15: 76,517,448 (GRCm39)	S757L	probably benign	Het
Trem2	G	T	17: 48,658,719 (GRCm39)	R161S	possibly damaging	Het
Trpm2	A	T	10: 77,777,007 (GRCm39)	V430E	probably damaging	Het
Ttc14	T	A	3: 33,855,518 (GRCm39)	D154E	possibly damaging	Het
Ugt2b37	T	C	5: 87,398,498 (GRCm39)	M313V	possibly damaging	Het
Vmn2r24	A	G	6: 123,792,739 (GRCm39)	I689V	probably benign	Het
Wdr76	A	G	2: 121,372,975 (GRCm39)	T601A	probably benign	Het
Xirp1	T	C	9: 119,846,069 (GRCm39)	D938G	possibly damaging	Het
Zfp608	A	T	18: 55,031,041 (GRCm39)	D966E	probably benign	Het
Zfp957	A	G	14: 79,451,796 (GRCm39)	M1T	probably null	Het
Zkscan16	A	T	4: 58,957,809 (GRCm39)	H697L	possibly damaging	Het

Other mutations in Mmp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Mmp27	APN	9	7,573,505 (GRCm39)	splice site	probably benign
IGL00656:Mmp27	APN	9	7,581,383 (GRCm39)	missense	possibly damaging	0.80
IGL00937:Mmp27	APN	9	7,578,900 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL01101:Mmp27	APN	9	7,573,416 (GRCm39)	missense	probably damaging	1.00
IGL01134:Mmp27	APN	9	7,573,298 (GRCm39)	missense	probably benign	0.06
IGL01631:Mmp27	APN	9	7,573,289 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL02967:Mmp27	APN	9	7,571,591 (GRCm39)	missense	probably benign	0.03
IGL03024:Mmp27	APN	9	7,581,377 (GRCm39)	missense	probably benign	0.17
R0662:Mmp27	UTSW	9	7,577,651 (GRCm39)	missense	probably benign	0.00
R0715:Mmp27	UTSW	9	7,581,156 (GRCm39)	splice site	probably benign
R0826:Mmp27	UTSW	9	7,579,010 (GRCm39)	missense	probably damaging	1.00
R1191:Mmp27	UTSW	9	7,579,067 (GRCm39)	splice site	probably null
R1793:Mmp27	UTSW	9	7,571,459 (GRCm39)	start codon destroyed	probably null	0.00
R1983:Mmp27	UTSW	9	7,578,898 (GRCm39)	splice site	probably null
R2074:Mmp27	UTSW	9	7,577,740 (GRCm39)	missense	possibly damaging	0.50
R2172:Mmp27	UTSW	9	7,577,379 (GRCm39)	nonsense	probably null
R2445:Mmp27	UTSW	9	7,581,182 (GRCm39)	missense	probably benign	0.12
R2961:Mmp27	UTSW	9	7,573,603 (GRCm39)	missense	probably damaging	1.00
R4888:Mmp27	UTSW	9	7,581,369 (GRCm39)	missense	probably benign	0.00
R4938:Mmp27	UTSW	9	7,578,983 (GRCm39)	missense	probably damaging	0.97
R5095:Mmp27	UTSW	9	7,572,159 (GRCm39)	missense	probably damaging	1.00
R5095:Mmp27	UTSW	9	7,579,001 (GRCm39)	missense	probably damaging	1.00
R5121:Mmp27	UTSW	9	7,581,369 (GRCm39)	missense	probably benign	0.00
R5446:Mmp27	UTSW	9	7,573,516 (GRCm39)	splice site	probably benign
R5485:Mmp27	UTSW	9	7,573,363 (GRCm39)	missense	probably damaging	1.00
R5516:Mmp27	UTSW	9	7,579,063 (GRCm39)	missense	probably null	1.00
R6682:Mmp27	UTSW	9	7,573,606 (GRCm39)	missense	probably benign	0.02
R6712:Mmp27	UTSW	9	7,572,177 (GRCm39)	missense	probably damaging	1.00
R6737:Mmp27	UTSW	9	7,571,955 (GRCm39)	missense	possibly damaging	0.78
R7282:Mmp27	UTSW	9	7,578,231 (GRCm39)	missense	probably damaging	0.98
R7368:Mmp27	UTSW	9	7,577,318 (GRCm39)	missense	probably damaging	1.00
R7689:Mmp27	UTSW	9	7,579,002 (GRCm39)	missense	probably damaging	1.00
R8006:Mmp27	UTSW	9	7,578,985 (GRCm39)	missense	probably damaging	0.97
R8185:Mmp27	UTSW	9	7,573,492 (GRCm39)	missense	unknown
R8537:Mmp27	UTSW	9	7,579,776 (GRCm39)	missense	probably benign	0.00
R9039:Mmp27	UTSW	9	7,581,250 (GRCm39)	missense	probably benign	0.01
R9087:Mmp27	UTSW	9	7,579,858 (GRCm39)	missense	probably damaging	1.00
R9188:Mmp27	UTSW	9	7,579,792 (GRCm39)	missense	possibly damaging	0.55
R9280:Mmp27	UTSW	9	7,579,812 (GRCm39)	missense	probably benign	0.09
R9367:Mmp27	UTSW	9	7,573,550 (GRCm39)	missense	probably damaging	1.00
X0021:Mmp27	UTSW	9	7,573,299 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGATGCTTTGACACTTGTGC -3'
(R):5'- CACATGAACAATACTGAAAGTGAGC -3'

Sequencing Primer
(F):5'- GAGATGCTTTGACACTTGTGCTTAAC -3'
(R):5'- TACTGAAAGTGAGCAAGCTTAACC -3'

Posted On

2016-03-01