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

Essential gene?

Probably non essential (E-score: 0.061) 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 (GRCm38)	H59Q	probably damaging	Het
Atp6v0a4	T	A	6: 38,078,814 (GRCm38)	I321F	possibly damaging	Het
Cdr2l	A	G	11: 115,393,825 (GRCm38)	D329G	possibly damaging	Het
Cep55	A	G	19: 38,069,916 (GRCm38)	E319G	probably damaging	Het
Cfhr2	C	T	1: 139,813,527 (GRCm38)	V237I	probably benign	Het
Clasrp	A	G	7: 19,584,778 (GRCm38)		probably null	Het
Col12a1	C	A	9: 79,700,350 (GRCm38)	E399*	probably null	Het
Cyp19a1	T	A	9: 54,173,363 (GRCm38)	I237F	probably benign	Het
Dnajc6	T	G	4: 101,636,813 (GRCm38)	N847K	probably damaging	Het
E330013P04Rik	C	G	19: 60,162,021 (GRCm38)		noncoding transcript	Het
Entpd2	A	G	2: 25,399,417 (GRCm38)	T304A	probably benign	Het
Etl4	A	G	2: 20,798,649 (GRCm38)	T779A	probably benign	Het
Fam107b	A	T	2: 3,772,870 (GRCm38)	I35L	probably benign	Het
Fgg	A	T	3: 83,012,868 (GRCm38)	Y318F	probably benign	Het
Fitm1	A	C	14: 55,576,619 (GRCm38)	T191P	probably damaging	Het
Fras1	A	G	5: 96,776,724 (GRCm38)	M3675V	probably damaging	Het
Fry	C	T	5: 150,477,989 (GRCm38)	R731W	probably damaging	Het
Galnt17	A	T	5: 131,306,399 (GRCm38)	S68T	probably benign	Het
Glp2r	G	T	11: 67,757,593 (GRCm38)	Y94*	probably null	Het
Grm1	C	T	10: 10,936,513 (GRCm38)	A256T	probably damaging	Het
Hoxd13	A	G	2: 74,668,683 (GRCm38)	Y125C	probably benign	Het
Hspa14	A	T	2: 3,491,609 (GRCm38)	I373K	probably benign	Het
Ifnlr1	A	G	4: 135,705,282 (GRCm38)	E343G	probably benign	Het
Ighv5-9	A	G	12: 113,661,962 (GRCm38)	S54P	probably benign	Het
Insyn2b	G	A	11: 34,402,231 (GRCm38)	G91E	probably damaging	Het
Irf2bpl	A	G	12: 86,882,118 (GRCm38)	S594P	possibly damaging	Het
Kcnq2	A	G	2: 181,086,973 (GRCm38)	S548P	probably damaging	Het
Lrp2	G	A	2: 69,472,368 (GRCm38)	R3006W	probably damaging	Het
Lrrc4c	A	T	2: 97,629,301 (GRCm38)	I91F	probably damaging	Het
Mdh1b	T	C	1: 63,711,504 (GRCm38)	D435G	probably benign	Het
Mettl3	A	T	14: 52,299,727 (GRCm38)	S182T	probably damaging	Het
Mllt6	A	G	11: 97,678,407 (GRCm38)	T862A	probably benign	Het
Mstn	A	G	1: 53,066,423 (GRCm38)	N308S	possibly damaging	Het
Ncapg	A	G	5: 45,671,209 (GRCm38)	T101A	probably benign	Het
Ngf	C	T	3: 102,520,474 (GRCm38)	R180W	probably damaging	Het
Notch1	G	A	2: 26,474,124 (GRCm38)	Q862*	probably null	Het
Nsrp1	T	C	11: 77,045,744 (GRCm38)	D542G	probably damaging	Het
Nup214	C	A	2: 31,983,159 (GRCm38)	T255K	probably benign	Het
Or5b21	T	A	19: 12,862,552 (GRCm38)	M259K	probably damaging	Het
Or8b43	T	A	9: 38,449,383 (GRCm38)	D170E	probably benign	Het
Papln	C	T	12: 83,782,903 (GRCm38)	P911S	probably benign	Het
Pdxdc1	A	G	16: 13,876,069 (GRCm38)	V163A	probably benign	Het
Plekhj1	A	T	10: 80,797,775 (GRCm38)	I76N	probably damaging	Het
Pnp2	A	G	14: 50,963,568 (GRCm38)		probably null	Het
Polr3gl	T	C	3: 96,579,892 (GRCm38)	E89G	probably benign	Het
Polrmt	A	G	10: 79,746,551 (GRCm38)	M1T	probably null	Het
Prss37	A	G	6: 40,514,983 (GRCm38)	I221T	possibly damaging	Het
Ptx4	C	T	17: 25,123,165 (GRCm38)	Q205*	probably null	Het
Qsox1	T	C	1: 155,779,668 (GRCm38)	E583G	probably benign	Het
Riok3	T	A	18: 12,155,243 (GRCm38)	N492K	probably benign	Het
Sec13	A	G	6: 113,735,192 (GRCm38)	W61R	probably damaging	Het
Slc20a2	T	C	8: 22,561,205 (GRCm38)	V418A	possibly damaging	Het
Smad9	G	A	3: 54,789,230 (GRCm38)	V239I	probably benign	Het
Stmn2	A	G	3: 8,545,732 (GRCm38)	E92G	probably damaging	Het
Taf1c	A	G	8: 119,598,798 (GRCm38)	V775A	probably benign	Het
Thsd7a	T	A	6: 12,330,992 (GRCm38)	I1384L	probably benign	Het
Tnxb	A	G	17: 34,713,632 (GRCm38)	Y2275C	probably damaging	Het
Trmo	G	T	4: 46,382,388 (GRCm38)	T243N	probably benign	Het
Tyrp1	C	T	4: 80,840,646 (GRCm38)	A252V	probably damaging	Het
Vasp	T	C	7: 19,257,717 (GRCm38)	*376W	probably null	Het
Vmn1r231	T	C	17: 20,890,351 (GRCm38)	I101V	possibly damaging	Het
Zfp532	T	C	18: 65,623,766 (GRCm38)	S257P	probably benign	Het
Zfp563	G	A	17: 33,105,709 (GRCm38)	C426Y	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,911,044 (GRCm38)		probably null	Het
Zfp703	C	A	8: 26,979,773 (GRCm38)	H488Q	probably damaging	Het
Zfp964	A	G	8: 69,664,108 (GRCm38)	N452D	possibly damaging	Het
Zfyve28	A	C	5: 34,233,354 (GRCm38)	Y188D	probably damaging	Het

Other mutations in Mmp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Mmp27	APN	9	7,573,504 (GRCm38)	splice site	probably benign
IGL00656:Mmp27	APN	9	7,581,382 (GRCm38)	missense	possibly damaging	0.80
IGL00937:Mmp27	APN	9	7,578,899 (GRCm38)	critical splice acceptor site	probably benign	0.00
IGL01101:Mmp27	APN	9	7,573,415 (GRCm38)	missense	probably damaging	1.00
IGL01134:Mmp27	APN	9	7,573,297 (GRCm38)	missense	probably benign	0.06
IGL01631:Mmp27	APN	9	7,573,288 (GRCm38)	critical splice acceptor site	probably benign	0.00
IGL02967:Mmp27	APN	9	7,571,590 (GRCm38)	missense	probably benign	0.03
IGL03024:Mmp27	APN	9	7,581,376 (GRCm38)	missense	probably benign	0.17
R0662:Mmp27	UTSW	9	7,577,650 (GRCm38)	missense	probably benign	0.00
R0715:Mmp27	UTSW	9	7,581,155 (GRCm38)	splice site	probably benign
R0826:Mmp27	UTSW	9	7,579,009 (GRCm38)	missense	probably damaging	1.00
R1191:Mmp27	UTSW	9	7,579,066 (GRCm38)	splice site	probably null
R1793:Mmp27	UTSW	9	7,571,458 (GRCm38)	start codon destroyed	probably null	0.00
R1983:Mmp27	UTSW	9	7,578,897 (GRCm38)	splice site	probably null
R2074:Mmp27	UTSW	9	7,577,739 (GRCm38)	missense	possibly damaging	0.50
R2172:Mmp27	UTSW	9	7,577,378 (GRCm38)	nonsense	probably null
R2445:Mmp27	UTSW	9	7,581,181 (GRCm38)	missense	probably benign	0.12
R2961:Mmp27	UTSW	9	7,573,602 (GRCm38)	missense	probably damaging	1.00
R4825:Mmp27	UTSW	9	7,581,194 (GRCm38)	missense	probably damaging	1.00
R4888:Mmp27	UTSW	9	7,581,368 (GRCm38)	missense	probably benign	0.00
R5095:Mmp27	UTSW	9	7,572,158 (GRCm38)	missense	probably damaging	1.00
R5095:Mmp27	UTSW	9	7,579,000 (GRCm38)	missense	probably damaging	1.00
R5121:Mmp27	UTSW	9	7,581,368 (GRCm38)	missense	probably benign	0.00
R5446:Mmp27	UTSW	9	7,573,515 (GRCm38)	splice site	probably benign
R5485:Mmp27	UTSW	9	7,573,362 (GRCm38)	missense	probably damaging	1.00
R5516:Mmp27	UTSW	9	7,579,062 (GRCm38)	missense	probably null	1.00
R6682:Mmp27	UTSW	9	7,573,605 (GRCm38)	missense	probably benign	0.02
R6712:Mmp27	UTSW	9	7,572,176 (GRCm38)	missense	probably damaging	1.00
R6737:Mmp27	UTSW	9	7,571,954 (GRCm38)	missense	possibly damaging	0.78
R7282:Mmp27	UTSW	9	7,578,230 (GRCm38)	missense	probably damaging	0.98
R7368:Mmp27	UTSW	9	7,577,317 (GRCm38)	missense	probably damaging	1.00
R7689:Mmp27	UTSW	9	7,579,001 (GRCm38)	missense	probably damaging	1.00
R8006:Mmp27	UTSW	9	7,578,984 (GRCm38)	missense	probably damaging	0.97
R8185:Mmp27	UTSW	9	7,573,491 (GRCm38)	missense	unknown
R8537:Mmp27	UTSW	9	7,579,775 (GRCm38)	missense	probably benign	0.00
R9039:Mmp27	UTSW	9	7,581,249 (GRCm38)	missense	probably benign	0.01
R9087:Mmp27	UTSW	9	7,579,857 (GRCm38)	missense	probably damaging	1.00
R9188:Mmp27	UTSW	9	7,579,791 (GRCm38)	missense	possibly damaging	0.55
R9280:Mmp27	UTSW	9	7,579,811 (GRCm38)	missense	probably benign	0.09
R9367:Mmp27	UTSW	9	7,573,549 (GRCm38)	missense	probably damaging	1.00
X0021:Mmp27	UTSW	9	7,573,298 (GRCm38)	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