Mutagenetix > Incidental Mutation

Incidental Mutation 'R7657:Mmp21'

591270

Institutional Source

Beutler Lab

Gene Symbol

Mmp21

Ensembl Gene

ENSMUSG00000030981

Gene Name

matrix metallopeptidase 21

Synonyms

b2b2458Clo, b2b873Clo

MMRRC Submission

045733-MU

Accession Numbers

Essential gene?

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

Stock #

R7657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133275999-133281790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133280562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 136 (G136D)

Ref Sequence

ENSEMBL: ENSMUSP00000033278 (fasta)

Gene Model

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

AlphaFold

Q8K3F2

Predicted Effect

probably benign
Transcript: ENSMUST00000033278
AA Change: G136D

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

SMART Domains

Protein: ENSMUSP00000033278
Gene: ENSMUSG00000030981
AA Change: G136D

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: G136D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113853
Gene: ENSMUSG00000030981
AA Change: G136D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,337 (GRCm39)	E28G	possibly damaging	Het
Acot6	G	A	12: 84,153,304 (GRCm39)	G182D	possibly damaging	Het
Actl9	A	G	17: 33,652,014 (GRCm39)	T25A	probably benign	Het
Adam26b	G	A	8: 43,974,579 (GRCm39)	T141I	possibly damaging	Het
Agl	T	C	3: 116,572,812 (GRCm39)	H148R		Het
Angptl1	A	G	1: 156,684,790 (GRCm39)	I320V	probably benign	Het
Arhgef10	C	T	8: 15,029,893 (GRCm39)	R932C	probably damaging	Het
Atp13a2	A	G	4: 140,719,815 (GRCm39)	E91G	possibly damaging	Het
Bptf	T	A	11: 106,965,555 (GRCm39)	E1213V	probably damaging	Het
C530025M09Rik	A	G	2: 149,672,541 (GRCm39)	V198A	unknown	Het
Casd1	A	T	6: 4,619,773 (GRCm39)	I173F	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Col1a2	A	T	6: 4,527,152 (GRCm39)	K627M	probably null	Het
Ctcfl	G	A	2: 172,955,449 (GRCm39)	T271I	possibly damaging	Het
Dctn2	T	C	10: 127,102,383 (GRCm39)	Y6H	probably damaging	Het
Denr	T	C	5: 124,046,263 (GRCm39)	V31A	probably damaging	Het
Entpd7	T	C	19: 43,713,906 (GRCm39)	F422L	possibly damaging	Het
Fastkd5	G	C	2: 130,458,176 (GRCm39)	P138R	probably benign	Het
Fmn1	G	T	2: 113,355,538 (GRCm39)	A758S	unknown	Het
Fmo2	A	G	1: 162,716,413 (GRCm39)	V58A	probably damaging	Het
Fmo6	A	G	1: 162,750,285 (GRCm39)	I257T	probably benign	Het
Foxn1	T	C	11: 78,256,790 (GRCm39)	T302A	probably benign	Het
Ganab	C	T	19: 8,884,721 (GRCm39)	L175F	probably damaging	Het
Gga1	A	T	15: 78,773,327 (GRCm39)		probably null	Het
Gjd3	G	T	11: 98,873,586 (GRCm39)	S86*	probably null	Het
Gm1330	A	G	2: 148,841,154 (GRCm39)		probably null	Het
Gm18596	A	C	10: 77,577,947 (GRCm39)	S176A	unknown	Het
Gnl2	A	G	4: 124,923,951 (GRCm39)	S10G	probably benign	Het
Gpsm2	G	A	3: 108,608,061 (GRCm39)	A239V	probably damaging	Het
Grik2	T	C	10: 49,659,247 (GRCm39)	R37G	probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Gtpbp3	T	C	8: 71,943,765 (GRCm39)	L216P	probably benign	Het
Hhla1	T	C	15: 65,837,308 (GRCm39)	T99A	probably damaging	Het
Igtp	A	T	11: 58,097,654 (GRCm39)	Q275L	probably benign	Het
Itga6	G	A	2: 71,676,595 (GRCm39)	A993T	probably benign	Het
Jakmip3	T	A	7: 138,620,903 (GRCm39)	I234N	probably damaging	Het
Kcnh7	A	G	2: 62,566,379 (GRCm39)	F851L	probably damaging	Het
Krr1	A	G	10: 111,811,504 (GRCm39)	Y66C	probably damaging	Het
Krt33a	T	A	11: 99,906,693 (GRCm39)	Q94L	probably benign	Het
Mat1a	A	T	14: 40,844,476 (GRCm39)	K369*	probably null	Het
Mbd1	T	G	18: 74,407,804 (GRCm39)	L277R	probably damaging	Het
Mroh3	A	G	1: 136,109,532 (GRCm39)	Y892H	possibly damaging	Het
Ncbp3	G	A	11: 72,964,193 (GRCm39)	R381Q	probably damaging	Het
Nlrp2	T	A	7: 5,322,167 (GRCm39)	I827L	probably benign	Het
Nrip1	T	A	16: 76,091,587 (GRCm39)		probably null	Het
Or2ak4	A	T	11: 58,648,755 (GRCm39)	D88V	probably benign	Het
Or4f6	A	G	2: 111,839,093 (GRCm39)	V146A	probably benign	Het
Or5w13	C	T	2: 87,523,336 (GRCm39)	V297I	probably damaging	Het
Oxt	C	T	2: 130,418,710 (GRCm39)	P107L	possibly damaging	Het
Pcdhga2	G	A	18: 37,803,481 (GRCm39)	V442M	probably damaging	Het
Phtf1	T	G	3: 103,876,429 (GRCm39)	S10A	probably benign	Het
Plb1	A	C	5: 32,487,211 (GRCm39)	N902T	probably damaging	Het
Plppr3	T	C	10: 79,702,272 (GRCm39)	I267V	probably benign	Het
Pms2	C	A	5: 143,856,357 (GRCm39)	H278Q	possibly damaging	Het
Pmvk	T	A	3: 89,376,158 (GRCm39)	S154T	possibly damaging	Het
Polr3b	T	A	10: 84,491,855 (GRCm39)	M338K	probably damaging	Het
Ppp1r21	T	A	17: 88,863,110 (GRCm39)	I283N	probably damaging	Het
Ptprj	A	T	2: 90,282,501 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,388,724 (GRCm39)	L216H	probably damaging	Het
Rpl3	G	A	15: 79,965,258 (GRCm39)	P174S	probably benign	Het
Rtl1	T	C	12: 109,561,818 (GRCm39)	D7G	possibly damaging	Het
Slc13a2	A	G	11: 78,289,223 (GRCm39)	V496A	probably damaging	Het
Slc14a1	A	G	18: 78,156,879 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,361,158 (GRCm39)	R554G	probably damaging	Het
Spata31d1b	T	C	13: 59,863,577 (GRCm39)	S242P	possibly damaging	Het
Spocd1	G	A	4: 129,823,535 (GRCm39)	V111I		Het
Stxbp5l	G	A	16: 37,030,534 (GRCm39)	A479V	probably null	Het
Tasor2	A	G	13: 3,623,777 (GRCm39)	S2058P	probably damaging	Het
Tmem238	C	G	7: 4,792,226 (GRCm39)	G106R	probably damaging	Het
Trak1	T	G	9: 121,301,652 (GRCm39)	Y803D	probably damaging	Het
Trim5	T	C	7: 103,925,884 (GRCm39)	S226G	possibly damaging	Het
Trim6	T	A	7: 103,881,068 (GRCm39)	D282E	possibly damaging	Het
Ube2e2	A	G	14: 18,586,997 (GRCm38)	V121A	probably benign	Het
Ufd1	T	G	16: 18,636,713 (GRCm39)	M77R	probably benign	Het
Unc13c	C	T	9: 73,441,185 (GRCm39)		probably null	Het
Wfs1	A	G	5: 37,125,578 (GRCm39)	S438P	probably benign	Het
Zbtb6	A	C	2: 37,319,087 (GRCm39)	D280E	probably benign	Het
Zfp595	G	A	13: 67,465,817 (GRCm39)	L152F	probably damaging	Het
Zfpm2	A	G	15: 40,966,671 (GRCm39)	E1052G	possibly damaging	Het
Zmym5	A	G	14: 57,041,653 (GRCm39)	V150A	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
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
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'- TGCTCATCCCCAGAGAGTTG -3'
(R):5'- ATGGCTGGTCAGAGATACCTAG -3'

Sequencing Primer
(F):5'- CCCAGAGAGTTGGCTGCTGTAG -3'
(R):5'- TGGTCAGAGATACCTAGCCCAAAG -3'

Posted On

2019-11-12