Mutagenetix > Incidental Mutation

Incidental Mutation 'R5134:Mmp21'

396040

Institutional Source

Beutler Lab

Gene Symbol

Mmp21

Ensembl Gene

ENSMUSG00000030981

Gene Name

matrix metallopeptidase 21

Synonyms

b2b2458Clo, b2b873Clo

MMRRC Submission

042722-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133275999-133281790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133280742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 76 (V76E)

Ref Sequence

ENSEMBL: ENSMUSP00000113853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033278] [ENSMUST00000122136]

AlphaFold

Q8K3F2

Predicted Effect

probably benign
Transcript: ENSMUST00000033278
AA Change: V76E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033278
Gene: ENSMUSG00000030981
AA Change: V76E

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	46	107	5.6e-13	PFAM
low complexity region	117	133	N/A	INTRINSIC
ZnMc	166	327	2.67e-32	SMART
HX	332	390	1.97e-1	SMART
HX	393	448	5.36e-6	SMART
HX	450	497	9.33e-6	SMART
HX	505	548	1.11e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122136
AA Change: V76E

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

SMART Domains

Protein: ENSMUSP00000113853
Gene: ENSMUSG00000030981
AA Change: V76E

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	46	107	1.9e-13	PFAM
low complexity region	117	133	N/A	INTRINSIC
ZnMc	166	327	2.67e-32	SMART
Pfam:Hemopexin	351	390	4.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131894

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

96% (100/104)

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. Mice harboring certain mutations in this gene exhibit congenital heart defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit heterotaxia and congenital cardiovascular defects including d-loop transposition of the great arteries, tricupid valve atresia, and ventricular septal defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	A	10: 77,161,679 (GRCm39)		probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arsj	A	G	3: 126,231,803 (GRCm39)	D183G	probably benign	Het
Atg2b	A	G	12: 105,641,209 (GRCm39)	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,422,875 (GRCm39)	N815K	probably damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cir1	G	A	2: 73,114,847 (GRCm39)	R404*	probably null	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Cstf2t	T	A	19: 31,061,494 (GRCm39)	D343E	probably damaging	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Dhx34	G	T	7: 15,952,175 (GRCm39)	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,647,766 (GRCm39)	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,343,357 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	C	T	15: 54,762,726 (GRCm39)	R174H	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	T	15: 58,512,003 (GRCm39)	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766 (GRCm39)	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818 (GRCm39)	A79T	probably damaging	Het
Galnt17	A	T	5: 130,992,873 (GRCm39)	M347K	probably damaging	Het
Glyatl3	A	G	17: 41,215,921 (GRCm39)	V195A	probably benign	Het
Gm10770	A	T	2: 150,021,480 (GRCm39)		probably null	Het
Gm5578	A	T	6: 112,583,046 (GRCm39)		noncoding transcript	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,083,653 (GRCm39)	Q22H	probably benign	Het
Ipcef1	A	G	10: 6,869,950 (GRCm39)	I150T	probably benign	Het
Ipp	T	A	4: 116,372,654 (GRCm39)	F228I	possibly damaging	Het
Itgb7	A	G	15: 102,125,842 (GRCm39)	C596R	probably damaging	Het
Kif27	T	C	13: 58,438,904 (GRCm39)	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,567,575 (GRCm39)	D115E	probably benign	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrpprc	A	T	17: 85,058,684 (GRCm39)	N725K	probably benign	Het
Lss	T	G	10: 76,382,070 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,747,515 (GRCm39)	Y450C	possibly damaging	Het
Mtmr11	A	T	3: 96,077,223 (GRCm39)	Y527F	probably damaging	Het
Nat10	A	T	2: 103,573,638 (GRCm39)	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,638,863 (GRCm39)	M199K	probably damaging	Het
Nuak1	A	G	10: 84,210,214 (GRCm39)	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,393 (GRCm39)	T98A	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or10g3b	T	C	14: 52,587,248 (GRCm39)	N85S	probably benign	Het
Or1j4	A	T	2: 36,740,488 (GRCm39)	L143F	probably benign	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Osbpl8	T	A	10: 111,124,554 (GRCm39)	D705E	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Paics	T	C	5: 77,104,669 (GRCm39)		probably benign	Het
Pax5	A	G	4: 44,710,407 (GRCm39)	M1T	probably null	Het
Pck1	A	T	2: 172,995,282 (GRCm39)	N34I	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Piezo2	A	G	18: 63,207,691 (GRCm39)	V1440A	probably damaging	Het
Prr23a4	T	C	9: 98,785,793 (GRCm39)	S153P	probably benign	Het
Ptpre	T	A	7: 135,253,821 (GRCm39)	F83Y	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rassf6	T	A	5: 90,752,225 (GRCm39)		probably null	Het
Rilp	A	T	11: 75,403,534 (GRCm39)	L325F	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Rps6kc1	T	A	1: 190,505,845 (GRCm39)	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,793,426 (GRCm39)	V579I	probably benign	Het
Serpinc1	A	G	1: 160,825,140 (GRCm39)		probably null	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
St14	T	G	9: 31,006,879 (GRCm39)	D649A	probably benign	Het
Stab2	A	G	10: 86,707,674 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,988,287 (GRCm39)	T12A	probably benign	Het
Tdrd6	A	G	17: 43,937,101 (GRCm39)	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Trav14-3	T	A	14: 54,000,701 (GRCm39)	S17T	unknown	Het
Trmu	T	A	15: 85,780,556 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Unc5b	A	T	10: 60,610,879 (GRCm39)	V376E	probably benign	Het
Usp3	T	C	9: 66,449,814 (GRCm39)	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,216,212 (GRCm39)	C344*	probably null	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdfy3	A	C	5: 102,091,969 (GRCm39)	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het
Zfp758	A	G	17: 22,594,386 (GRCm39)	K291E	probably damaging	Het
Zfp799	A	T	17: 33,039,415 (GRCm39)	C284S	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	Het

Other mutations in Mmp21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Mmp21	APN	7	133,277,643 (GRCm39)	missense	probably damaging	1.00
IGL02822:Mmp21	APN	7	133,277,828 (GRCm39)	missense	possibly damaging	0.80
IGL03240:Mmp21	APN	7	133,276,300 (GRCm39)	missense	probably damaging	0.97
IGL03261:Mmp21	APN	7	133,276,403 (GRCm39)	missense	probably benign	0.01
R0659:Mmp21	UTSW	7	133,279,396 (GRCm39)	splice site	probably benign
R1037:Mmp21	UTSW	7	133,276,182 (GRCm39)	missense	probably benign	0.16
R1463:Mmp21	UTSW	7	133,277,588 (GRCm39)	splice site	probably null
R1523:Mmp21	UTSW	7	133,280,774 (GRCm39)	missense	probably benign
R1710:Mmp21	UTSW	7	133,279,014 (GRCm39)	missense	probably damaging	1.00
R1804:Mmp21	UTSW	7	133,280,611 (GRCm39)	missense	probably benign	0.01
R1848:Mmp21	UTSW	7	133,278,882 (GRCm39)	missense	probably benign	0.05
R2993:Mmp21	UTSW	7	133,280,715 (GRCm39)	missense	probably damaging	1.00
R3431:Mmp21	UTSW	7	133,280,479 (GRCm39)	missense	probably benign	0.00
R4790:Mmp21	UTSW	7	133,276,759 (GRCm39)	missense	probably damaging	1.00
R4870:Mmp21	UTSW	7	133,280,406 (GRCm39)	missense	probably damaging	1.00
R5347:Mmp21	UTSW	7	133,277,651 (GRCm39)	missense	probably benign
R5682:Mmp21	UTSW	7	133,276,358 (GRCm39)	missense	probably benign	0.00
R5905:Mmp21	UTSW	7	133,280,443 (GRCm39)	missense	probably benign	0.17
R6028:Mmp21	UTSW	7	133,280,443 (GRCm39)	missense	probably benign	0.17
R6936:Mmp21	UTSW	7	133,280,704 (GRCm39)	missense	probably benign	0.01
R7657:Mmp21	UTSW	7	133,280,562 (GRCm39)	missense	probably benign	0.00
R7702:Mmp21	UTSW	7	133,280,791 (GRCm39)	missense	probably damaging	1.00
R7786:Mmp21	UTSW	7	133,276,764 (GRCm39)	missense	probably benign
R8922:Mmp21	UTSW	7	133,276,000 (GRCm39)	unclassified	probably benign
R8937:Mmp21	UTSW	7	133,280,700 (GRCm39)	missense	probably benign	0.03
R8989:Mmp21	UTSW	7	133,276,746 (GRCm39)	missense	probably damaging	1.00
Z1177:Mmp21	UTSW	7	133,276,662 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCGCTTTTGTCTGGCC -3'
(R):5'- ACTCTGGTAGATCCTGGATAAAGTC -3'

Sequencing Primer
(F):5'- CTGGGCCGGAGACCTAAAG -3'
(R):5'- GCAGGAGTCAACCTTATGA -3'

Posted On

2016-06-21