Mutagenetix > Incidental Mutation

Incidental Mutation 'R1848:Mmp21'

207897

Institutional Source

Beutler Lab

Gene Symbol

Mmp21

Ensembl Gene

ENSMUSG00000030981

Gene Name

matrix metallopeptidase 21

Synonyms

b2b2458Clo, b2b873Clo

MMRRC Submission

039873-MU

Accession Numbers

Essential gene?

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

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133275999-133281790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133278882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 323 (R323G)

Ref Sequence

ENSEMBL: ENSMUSP00000033278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033278] [ENSMUST00000051169] [ENSMUST00000122136] [ENSMUST00000128901]

AlphaFold

Q8K3F2

Predicted Effect

probably benign
Transcript: ENSMUST00000033278
AA Change: R323G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000033278
Gene: ENSMUSG00000030981
AA Change: R323G

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: ENSMUST00000051169

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	529	549	N/A	INTRINSIC
low complexity region	1171	1184	N/A	INTRINSIC
low complexity region	1229	1237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122136
AA Change: R323G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113853
Gene: ENSMUSG00000030981
AA Change: R323G

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

probably benign
Transcript: ENSMUST00000128901

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	433	443	N/A	INTRINSIC
low complexity region	495	515	N/A	INTRINSIC
low complexity region	1137	1150	N/A	INTRINSIC
low complexity region	1195	1203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131894

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

98% (120/123)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 88,295,121 (GRCm39)	Y86*	probably null	Het
Aadac	A	G	3: 59,947,118 (GRCm39)	E272G	probably damaging	Het
Abcc8	A	T	7: 45,816,326 (GRCm39)	D271E	probably benign	Het
Acan	T	C	7: 78,748,783 (GRCm39)	F1185L	probably benign	Het
Adam1a	A	T	5: 121,657,683 (GRCm39)	C537S	probably damaging	Het
Ago2	A	G	15: 72,995,814 (GRCm39)	V395A	probably benign	Het
Alox15	A	G	11: 70,241,578 (GRCm39)	V101A	probably damaging	Het
Ankra2	T	C	13: 98,407,632 (GRCm39)	I194T	probably damaging	Het
Apobec4	C	A	1: 152,631,981 (GRCm39)	P3H	probably damaging	Het
Arid3b	G	T	9: 57,703,960 (GRCm39)	Y329*	probably null	Het
Atm	A	T	9: 53,379,312 (GRCm39)	S1993T	probably benign	Het
Bpgm	T	G	6: 34,464,669 (GRCm39)	S129A	probably benign	Het
Brat1	A	G	5: 140,704,264 (GRCm39)	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,253,866 (GRCm39)	S128T	probably benign	Het
Cd300lg	A	T	11: 101,937,032 (GRCm39)		probably benign	Het
Cdc34b	C	A	11: 94,633,303 (GRCm39)	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,308,626 (GRCm39)	V1767E	probably benign	Het
Cep350	T	C	1: 155,829,397 (GRCm39)	D169G	probably benign	Het
Col7a1	A	T	9: 108,798,633 (GRCm39)	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,448,298 (GRCm39)	L724P	probably damaging	Het
Crb1	T	A	1: 139,164,750 (GRCm39)	I1125F	probably damaging	Het
Ctif	T	A	18: 75,653,012 (GRCm39)	D415V	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs2	A	G	14: 55,478,298 (GRCm39)	D237G	probably benign	Het
Dhx9	T	C	1: 153,341,499 (GRCm39)	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,224,524 (GRCm39)	R443Q	probably damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Dpf2	C	A	19: 5,956,643 (GRCm39)	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,043,088 (GRCm39)	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166 (GRCm39)	T3245S	probably benign	Het
Ect2l	A	G	10: 18,075,781 (GRCm39)	L35P	probably damaging	Het
Efcab5	A	T	11: 76,994,132 (GRCm39)	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,500,617 (GRCm39)	R697P	probably damaging	Het
Emsy	T	A	7: 98,250,028 (GRCm39)	E753V	probably damaging	Het
Entpd3	A	G	9: 120,387,485 (GRCm39)	I227M	probably damaging	Het
Epn1	T	A	7: 5,092,997 (GRCm39)	V103E	probably damaging	Het
Esrra	T	C	19: 6,889,378 (GRCm39)	D337G	probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fat2	A	G	11: 55,202,384 (GRCm39)	I230T	probably damaging	Het
Fbxl16	A	G	17: 26,035,420 (GRCm39)	I6V	probably benign	Het
Fgf23	T	C	6: 127,050,156 (GRCm39)	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,711,561 (GRCm39)	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113 (GRCm38)	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823 (GRCm39)	E449G	probably benign	Het
Gbf1	T	G	19: 46,260,476 (GRCm39)	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,177,099 (GRCm39)	E157G	probably damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm6625	A	C	8: 89,873,462 (GRCm39)		noncoding transcript	Het
Gpx4	A	G	10: 79,891,870 (GRCm39)		probably benign	Het
Grb10	A	G	11: 11,896,029 (GRCm39)	F264L	possibly damaging	Het
Grik3	T	C	4: 125,587,931 (GRCm39)	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,086,795 (GRCm39)		probably benign	Het
H2bc27	A	T	11: 58,839,928 (GRCm39)	I55F	possibly damaging	Het
Haus8	G	A	8: 71,708,767 (GRCm39)		probably benign	Het
Hip1	G	A	5: 135,463,995 (GRCm39)		probably null	Het
Hspbap1	T	A	16: 35,639,134 (GRCm39)		probably null	Het
Htr2b	T	A	1: 86,027,151 (GRCm39)	I452F	possibly damaging	Het
Hydin	T	A	8: 111,296,440 (GRCm39)	H3656Q	probably benign	Het
Klb	T	A	5: 65,506,180 (GRCm39)	D142E	probably benign	Het
Lamb3	A	T	1: 193,016,924 (GRCm39)	T777S	possibly damaging	Het
Lins1	C	A	7: 66,364,070 (GRCm39)	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,369,667 (GRCm39)	K5R	possibly damaging	Het
Lpp	G	A	16: 24,580,405 (GRCm39)	M40I	probably damaging	Het
Mia2	A	T	12: 59,217,037 (GRCm39)		probably benign	Het
Miip	A	C	4: 147,947,549 (GRCm39)	F204V	probably damaging	Het
Mta3	T	A	17: 84,062,980 (GRCm39)		probably benign	Het
Myh1	A	G	11: 67,104,456 (GRCm39)	K1004R	probably benign	Het
Myh14	T	A	7: 44,281,853 (GRCm39)	I810F	probably damaging	Het
Nbas	A	C	12: 13,463,598 (GRCm39)	D1295A	probably damaging	Het
Niban3	T	C	8: 72,056,413 (GRCm39)	M371T	possibly damaging	Het
Npr2	T	G	4: 43,632,384 (GRCm39)	V67G	probably benign	Het
Oas1f	C	A	5: 120,993,492 (GRCm39)	Q235K	probably damaging	Het
Or12d17	T	A	17: 37,777,938 (GRCm39)	S280R	probably damaging	Het
Or13a27	T	A	7: 139,925,900 (GRCm39)	M1L	probably benign	Het
Or1p1	G	T	11: 74,180,039 (GRCm39)	C189F	probably damaging	Het
Or52ae9	T	C	7: 103,390,381 (GRCm39)	N22S	probably benign	Het
Or7e166	C	T	9: 19,624,386 (GRCm39)	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pde1b	A	G	15: 103,433,767 (GRCm39)		probably null	Het
Pdilt	T	C	7: 119,088,607 (GRCm39)	T465A	probably benign	Het
Plxnd1	T	C	6: 115,943,507 (GRCm39)	H1233R	probably damaging	Het
Ppm1b	T	A	17: 85,301,552 (GRCm39)	M144K	probably benign	Het
Prkdc	T	C	16: 15,625,922 (GRCm39)	L3316S	probably benign	Het
Prm2	T	A	16: 10,609,455 (GRCm39)		probably benign	Het
Prmt7	T	C	8: 106,963,640 (GRCm39)	V240A	probably benign	Het
Prx	C	A	7: 27,218,313 (GRCm39)	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,402,194 (GRCm39)	V131A	probably benign	Het
Ric1	T	A	19: 29,578,213 (GRCm39)		probably null	Het
Rnf150	A	T	8: 83,590,639 (GRCm39)	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628 (GRCm39)	R298W	probably damaging	Het
Rp1	T	A	1: 4,417,455 (GRCm39)	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,514,357 (GRCm39)		probably null	Het
Sdad1	A	G	5: 92,440,510 (GRCm39)		probably null	Het
Septin9	T	C	11: 117,243,909 (GRCm39)		probably benign	Het
Serinc3	T	C	2: 163,487,409 (GRCm39)		probably benign	Het
Shc3	C	T	13: 51,615,424 (GRCm39)	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,146,950 (GRCm39)	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,868,837 (GRCm39)	I376V	probably benign	Het
Slmap	A	T	14: 26,143,729 (GRCm39)	F719L	probably benign	Het
Smgc	A	G	15: 91,743,956 (GRCm39)	N573D	possibly damaging	Het
Spx	G	A	6: 142,359,805 (GRCm39)		probably null	Het
Srrt	C	G	5: 137,295,207 (GRCm39)	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,607,560 (GRCm39)	R78S	probably benign	Het
Tchhl1	A	G	3: 93,378,408 (GRCm39)	R371G	probably damaging	Het
Teddm2	C	T	1: 153,726,194 (GRCm39)	A174T	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Trim33	T	C	3: 103,231,956 (GRCm39)		probably benign	Het
Tspan31	A	G	10: 126,905,327 (GRCm39)	V40A	probably damaging	Het
Uevld	A	G	7: 46,594,975 (GRCm39)		probably benign	Het
Vcl	G	T	14: 21,059,063 (GRCm39)	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,793,183 (GRCm39)	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,077,531 (GRCm39)	V212M	probably damaging	Het
Vps13c	A	G	9: 67,843,622 (GRCm39)	T1968A	probably benign	Het
Vtn	A	G	11: 78,391,393 (GRCm39)	R269G	probably damaging	Het
Wdcp	G	A	12: 4,900,245 (GRCm39)	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,719,091 (GRCm39)	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266 (GRCm39)	P123L	probably benign	Het
Zfp318	T	C	17: 46,716,981 (GRCm39)	S1038P	possibly damaging	Het
Zfp873	A	G	10: 81,896,406 (GRCm39)	D416G	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
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
R5134:Mmp21	UTSW	7	133,280,742 (GRCm39)	missense	probably benign	0.00
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'- AAAAGGATTGTTGCTCCTCACC -3'
(R):5'- GTGCCAGCAACGTCAAAGAC -3'

Sequencing Primer
(F):5'- AAAGGATTGTTGCTCCTCACCTGTAG -3'
(R):5'- GTCAAAGACTCAGGTTTGGTCCTAC -3'

Posted On

2014-06-23