Mutagenetix > Incidental Mutation

Incidental Mutation 'R5304:Mmp17'

404418

Institutional Source

Beutler Lab

Gene Symbol

Mmp17

Ensembl Gene

ENSMUSG00000029436

Gene Name

matrix metallopeptidase 17

Synonyms

MT4-MMP, membrane type-4 matrix metalloproteinase

MMRRC Submission

042887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129661233-129688163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129671678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 76 (E76V)

Ref Sequence

ENSEMBL: ENSMUSP00000031390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031390]

AlphaFold

Q9R0S3

Predicted Effect

probably null
Transcript: ENSMUST00000031390
AA Change: E76V

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: E76V

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
Pfam:PG_binding_1	44	104	5e-15	PFAM
ZnMc	128	295	8.26e-47	SMART
low complexity region	308	320	N/A	INTRINSIC
HX	340	384	3.17e-8	SMART
HX	389	432	2.59e-13	SMART
HX	435	481	6.39e-13	SMART
HX	483	527	1.1e-7	SMART
low complexity region	563	578	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177802

Meta Mutation Damage Score

0.0916

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (87/88)

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. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein exhibit dysfunctional vascular smooth muscle cells and altered extracellular matrix in the vessel wall leading to an increased susceptibility to angiotensin-II-induced thoracic aortic aneurysm. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a reporter allele exhibit normal morphology, clinical chemistry, hematology and behavior. Mice homozygous for a reporter/null allele exhibit normal growth, fertility, and lifespan but show subtle renal developmental defects, hypodipsia, and elevated urine osmolarity. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	T	11: 7,014,198 (GRCm39)	A200V	probably benign	Het
Adgrv1	T	C	13: 81,726,372 (GRCm39)	D551G	possibly damaging	Het
Aldh3a2	A	G	11: 61,144,538 (GRCm39)	V340A	probably damaging	Het
Amy1	C	A	3: 113,352,013 (GRCm39)	C393F	probably damaging	Het
Ankrd16	T	C	2: 11,794,545 (GRCm39)	V310A	probably benign	Het
Arhgef15	T	C	11: 68,838,063 (GRCm39)	S686G	probably null	Het
Arid4b	T	A	13: 14,361,514 (GRCm39)	N659K	probably benign	Het
Asz1	C	T	6: 18,076,619 (GRCm39)	R191Q	probably benign	Het
Atp2a3	A	G	11: 72,879,383 (GRCm39)	I947V	probably damaging	Het
AW011738	G	A	4: 156,287,969 (GRCm39)		probably benign	Het
Bfsp1	G	T	2: 143,669,211 (GRCm39)	T456K	probably benign	Het
Cdc25c	T	C	18: 34,883,864 (GRCm39)	T40A	possibly damaging	Het
Cdh20	G	A	1: 110,036,569 (GRCm39)	C583Y	probably damaging	Het
Ceacam23	A	C	7: 17,636,617 (GRCm39)	E231D	probably benign	Het
Cfap54	A	T	10: 92,656,968 (GRCm39)	L3028Q	probably damaging	Het
Chd1	A	G	17: 15,975,213 (GRCm39)	S1088G	probably benign	Het
Chd1	A	T	17: 15,990,530 (GRCm39)	H1694L	possibly damaging	Het
Cstf3	G	T	2: 104,493,735 (GRCm39)	E580*	probably null	Het
Dip2a	A	T	10: 76,130,357 (GRCm39)	M622K	possibly damaging	Het
Dlgap1	A	T	17: 71,122,202 (GRCm39)	H877L	probably damaging	Het
Egfr	G	T	11: 16,834,260 (GRCm39)	M122I	probably benign	Het
Etfbkmt	T	A	6: 149,048,704 (GRCm39)	D114E	probably damaging	Het
Eva1c	T	C	16: 90,666,551 (GRCm39)	L158P	probably damaging	Het
Exo1	G	A	1: 175,720,542 (GRCm39)	V287M	probably damaging	Het
Fam171a1	T	C	2: 3,226,654 (GRCm39)	Y471H	probably damaging	Het
Fermt1	T	A	2: 132,783,986 (GRCm39)	T8S	probably benign	Het
Fgfr2	G	T	7: 129,769,504 (GRCm39)	P630T	probably damaging	Het
Fmo5	G	A	3: 97,558,938 (GRCm39)	G466E	probably damaging	Het
Hcn4	A	G	9: 58,751,215 (GRCm39)	I280M	probably benign	Het
Ifi208	A	C	1: 173,511,174 (GRCm39)	K443T	probably benign	Het
Irs3	A	G	5: 137,643,003 (GRCm39)	F145S	probably benign	Het
Kirrel1	T	A	3: 86,996,902 (GRCm39)	H300L	probably benign	Het
Krit1	A	G	5: 3,869,326 (GRCm39)	Q340R	probably damaging	Het
Lipo5	T	C	19: 33,445,149 (GRCm39)	D140G	unknown	Het
Lrrtm4	A	T	6: 79,999,683 (GRCm39)	Q365L	probably benign	Het
Lrwd1	G	T	5: 136,160,004 (GRCm39)	T353K	possibly damaging	Het
Lsm14a	A	T	7: 34,053,154 (GRCm39)	S240R	possibly damaging	Het
Map3k5	A	G	10: 19,983,984 (GRCm39)	I870V	probably benign	Het
Matcap2	A	T	9: 22,335,528 (GRCm39)	T49S	probably benign	Het
Mphosph10	A	G	7: 64,038,732 (GRCm39)	F272L	probably damaging	Het
Mtcl2	G	A	2: 156,865,737 (GRCm39)	Q1127*	probably null	Het
Myh10	A	G	11: 68,655,071 (GRCm39)	K380R	probably damaging	Het
Myo3b	C	T	2: 70,257,232 (GRCm39)	P1282L	probably damaging	Het
Nemp2	T	C	1: 52,682,238 (GRCm39)		probably benign	Het
Ola1	T	C	2: 73,029,778 (GRCm39)	I114V	probably damaging	Het
Or4c3d	T	A	2: 89,882,257 (GRCm39)	H137L	probably benign	Het
Or8k28	T	A	2: 86,285,779 (GRCm39)	T279S	probably damaging	Het
Pabpc4	T	G	4: 123,184,100 (GRCm39)	D204E	probably benign	Het
Pigr	A	T	1: 130,777,230 (GRCm39)	M679L	probably benign	Het
Pik3c2b	A	T	1: 132,998,146 (GRCm39)	M341L	possibly damaging	Het
Plin4	T	A	17: 56,413,132 (GRCm39)	T498S	probably benign	Het
Ppp2r5e	A	G	12: 75,562,459 (GRCm39)	S15P	possibly damaging	Het
Prdm13	T	C	4: 21,678,984 (GRCm39)	Y502C	probably damaging	Het
Ptprk	T	C	10: 28,468,050 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,548,200 (GRCm39)	S505P	probably benign	Het
Rgmb	G	T	17: 16,040,990 (GRCm39)	S199*	probably null	Het
Rgsl1	T	C	1: 153,703,238 (GRCm39)	T173A	probably damaging	Het
Rhobtb1	G	T	10: 69,105,742 (GRCm39)	K102N	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Rsad2	A	T	12: 26,500,681 (GRCm39)	V202E	probably damaging	Het
Slc1a6	A	G	10: 78,629,141 (GRCm39)	N186S	probably damaging	Het
Sorbs3	G	A	14: 70,422,345 (GRCm39)	R622*	probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Srgap3	T	C	6: 112,743,900 (GRCm39)	Y446C	probably damaging	Het
Thsd7b	C	T	1: 129,605,980 (GRCm39)	R574*	probably null	Het
Tmem74	A	T	15: 43,730,217 (GRCm39)	Y275*	probably null	Het
Topors	A	T	4: 40,262,541 (GRCm39)	S248T	possibly damaging	Het
Trpm1	A	T	7: 63,858,694 (GRCm39)	Y239F	probably benign	Het
Ttn	T	A	2: 76,548,527 (GRCm39)	Y30179F	possibly damaging	Het
Ugt2b34	A	T	5: 87,040,724 (GRCm39)	F399L	probably damaging	Het
Ush2a	A	T	1: 188,088,995 (GRCm39)	I317F	probably damaging	Het
Usp1	T	C	4: 98,822,855 (GRCm39)	V723A	probably benign	Het
Usp34	T	G	11: 23,293,616 (GRCm39)	L237V	probably damaging	Het
Vgf	A	T	5: 137,061,140 (GRCm39)	D434V	probably damaging	Het
Vmn1r179	A	G	7: 23,628,100 (GRCm39)	N97S	probably benign	Het
Vps13a	A	G	19: 16,687,751 (GRCm39)	L899P	possibly damaging	Het
Vps33b	A	T	7: 79,924,001 (GRCm39)	I41F	probably damaging	Het
Zap70	A	T	1: 36,817,299 (GRCm39)	H210L	probably damaging	Het
Zc3h8	T	C	2: 128,770,835 (GRCm39)	D300G	probably benign	Het
Zfp958	C	A	8: 4,676,196 (GRCm39)	H55N	possibly damaging	Het

Other mutations in Mmp17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Mmp17	APN	5	129,683,472 (GRCm39)	missense	probably benign	0.00
IGL01602:Mmp17	APN	5	129,679,008 (GRCm39)	missense	probably benign	0.00
IGL01605:Mmp17	APN	5	129,679,008 (GRCm39)	missense	probably benign	0.00
IGL01782:Mmp17	APN	5	129,679,205 (GRCm39)	missense	probably damaging	1.00
IGL01986:Mmp17	APN	5	129,673,692 (GRCm39)	missense	probably damaging	1.00
IGL02096:Mmp17	APN	5	129,675,752 (GRCm39)	nonsense	probably null
IGL02160:Mmp17	APN	5	129,672,633 (GRCm39)	missense	possibly damaging	0.91
IGL03075:Mmp17	APN	5	129,672,138 (GRCm39)	missense	probably damaging	1.00
P0005:Mmp17	UTSW	5	129,673,695 (GRCm39)	missense	probably benign	0.00
R0125:Mmp17	UTSW	5	129,671,646 (GRCm39)	missense	possibly damaging	0.88
R0553:Mmp17	UTSW	5	129,675,734 (GRCm39)	missense	probably benign	0.30
R1521:Mmp17	UTSW	5	129,672,152 (GRCm39)	splice site	probably null
R1938:Mmp17	UTSW	5	129,679,190 (GRCm39)	missense	probably damaging	1.00
R2151:Mmp17	UTSW	5	129,682,725 (GRCm39)	missense	probably benign	0.01
R4908:Mmp17	UTSW	5	129,682,730 (GRCm39)	nonsense	probably null
R4970:Mmp17	UTSW	5	129,679,229 (GRCm39)	missense	possibly damaging	0.51
R5096:Mmp17	UTSW	5	129,682,627 (GRCm39)	missense	probably damaging	1.00
R5112:Mmp17	UTSW	5	129,679,229 (GRCm39)	missense	possibly damaging	0.51
R5178:Mmp17	UTSW	5	129,672,122 (GRCm39)	missense	probably damaging	1.00
R5341:Mmp17	UTSW	5	129,679,193 (GRCm39)	missense	possibly damaging	0.50
R6341:Mmp17	UTSW	5	129,679,019 (GRCm39)	missense	probably damaging	0.99
R6501:Mmp17	UTSW	5	129,683,469 (GRCm39)	missense	probably benign	0.00
R7257:Mmp17	UTSW	5	129,672,697 (GRCm39)	missense	probably benign	0.03
R7371:Mmp17	UTSW	5	129,682,836 (GRCm39)	missense	probably null	0.98
R7546:Mmp17	UTSW	5	129,673,653 (GRCm39)	missense	probably damaging	1.00
R8026:Mmp17	UTSW	5	129,672,148 (GRCm39)	critical splice donor site	probably null
R8370:Mmp17	UTSW	5	129,682,642 (GRCm39)	missense	probably damaging	1.00
R8525:Mmp17	UTSW	5	129,679,271 (GRCm39)	missense	probably damaging	1.00
R8708:Mmp17	UTSW	5	129,672,486 (GRCm39)	missense	possibly damaging	0.67
R8803:Mmp17	UTSW	5	129,675,773 (GRCm39)	nonsense	probably null
R8878:Mmp17	UTSW	5	129,683,378 (GRCm39)	missense	probably damaging	1.00
R8882:Mmp17	UTSW	5	129,679,008 (GRCm39)	missense	probably benign	0.00
R9399:Mmp17	UTSW	5	129,671,686 (GRCm39)	nonsense	probably null
R9404:Mmp17	UTSW	5	129,682,741 (GRCm39)	missense	possibly damaging	0.89
R9528:Mmp17	UTSW	5	129,683,392 (GRCm39)	missense	probably benign	0.00
W0251:Mmp17	UTSW	5	129,672,591 (GRCm39)	missense	probably benign	0.09
Y5377:Mmp17	UTSW	5	129,672,594 (GRCm39)	missense	probably damaging	1.00
Y5380:Mmp17	UTSW	5	129,672,594 (GRCm39)	missense	probably damaging	1.00
Z1177:Mmp17	UTSW	5	129,672,725 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGCATCCGATTTATTATCTGCG -3'
(R):5'- TCCACAGTGGCTAATTTCAGGG -3'

Sequencing Primer
(F):5'- TCTGCGTATAAACCCAGATCTAAGG -3'
(R):5'- TGGCTAATTTCAGGGCCCCAAG -3'

Posted On

2016-07-22