Mutagenetix > Incidental Mutation

Incidental Mutation 'R9404:Mmp17'

711395

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

Accession Numbers

Essential gene?

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

Stock #

R9404 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129661233-129688163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129682741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 460 (D460G)

Ref Sequence

ENSEMBL: ENSMUSP00000031390 (fasta)

Gene Model

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

AlphaFold

Q9R0S3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031390
AA Change: D460G

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

SMART Domains

Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: D460G

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

Coding Region Coverage

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

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,615,509 (GRCm39)	K314R	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,005,064 (GRCm39)	V1167A	probably damaging	Het
Bbs12	T	C	3: 37,373,557 (GRCm39)	S2P	probably damaging	Het
Cdh11	A	T	8: 103,406,254 (GRCm39)	L73Q	probably damaging	Het
Cdk15	A	G	1: 59,328,914 (GRCm39)	E274G	possibly damaging	Het
Col27a1	T	C	4: 63,194,178 (GRCm39)	V845A	possibly damaging	Het
Cyp3a11	T	C	5: 145,799,258 (GRCm39)	T310A	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ewsr1	A	G	11: 5,022,940 (GRCm39)	M388T	unknown	Het
Fat2	A	G	11: 55,144,348 (GRCm39)		probably null	Het
Gm8225	T	A	17: 26,762,034 (GRCm39)	I75N	probably damaging	Het
Gsap	A	G	5: 21,474,919 (GRCm39)	Y526C	probably damaging	Het
Hk1	T	A	10: 62,131,859 (GRCm39)	I203F	possibly damaging	Het
Insl5	T	C	4: 102,875,535 (GRCm39)	R72G	probably benign	Het
Iqcb1	T	C	16: 36,671,632 (GRCm39)	V321A	probably damaging	Het
Iqcd	A	C	5: 120,738,601 (GRCm39)	T140P		Het
Kcnt2	T	A	1: 140,353,107 (GRCm39)	I272K	probably damaging	Het
Klhl25	A	C	7: 75,515,153 (GRCm39)	I20L	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	C	3: 86,205,224 (GRCm39)	V356A	probably damaging	Het
Mast4	A	G	13: 102,887,933 (GRCm39)	Y1159H	probably damaging	Het
Mavs	T	A	2: 131,083,818 (GRCm39)	L105Q	probably damaging	Het
Megf6	T	A	4: 154,348,225 (GRCm39)	C902S		Het
Myh2	G	T	11: 67,070,454 (GRCm39)	A466S	probably damaging	Het
Neb	T	C	2: 52,147,788 (GRCm39)	N2744D	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or13a26	T	A	7: 140,284,722 (GRCm39)	L186H	probably damaging	Het
Or2a12	T	C	6: 42,904,750 (GRCm39)	V195A	probably benign	Het
Or2aj4	C	T	16: 19,384,731 (GRCm39)	V301M	probably benign	Het
Or4a27	T	A	2: 88,559,551 (GRCm39)	M131L	probably benign	Het
Or6d13	T	G	6: 116,517,708 (GRCm39)	I98S	probably damaging	Het
Or8g55	A	T	9: 39,784,708 (GRCm39)	I46F	possibly damaging	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Pax5	G	A	4: 44,645,565 (GRCm39)	P255S	possibly damaging	Het
Pcdhga2	A	G	18: 37,803,067 (GRCm39)	T304A	probably benign	Het
Pcsk1	T	G	13: 75,280,342 (GRCm39)	S722R	probably benign	Het
Pcsk9	C	A	4: 106,311,723 (GRCm39)	R218L	probably damaging	Het
Pds5a	T	A	5: 65,776,307 (GRCm39)	I96F	probably damaging	Het
Pkdrej	C	A	15: 85,703,270 (GRCm39)	V889L	probably benign	Het
Plekhh2	A	T	17: 84,878,468 (GRCm39)		probably null	Het
Pnn	A	G	12: 59,118,758 (GRCm39)	E447G	probably damaging	Het
Ppp2r3d	A	G	9: 101,025,840 (GRCm39)	L289P	probably damaging	Het
Ppp6r2	A	G	15: 89,152,753 (GRCm39)	H298R	probably benign	Het
Ptpn23	T	C	9: 110,216,025 (GRCm39)	N1277S		Het
Pus10	T	A	11: 23,661,202 (GRCm39)	F263L	possibly damaging	Het
Rexo5	A	G	7: 119,400,542 (GRCm39)	Y109C	probably damaging	Het
Rnf185	A	T	11: 3,382,615 (GRCm39)	C23*	probably null	Het
Runx1	T	C	16: 92,485,915 (GRCm39)	N140D	probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn9a	G	A	2: 66,357,040 (GRCm39)	T1087I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	TC	TCAGCCACGGGGACCAGCCC	7: 126,066,771 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,335,488 (GRCm39)	H350R	possibly damaging	Het
Spaca6	T	C	17: 18,057,800 (GRCm39)	C155R	probably damaging	Het
Spire2	C	T	8: 124,090,077 (GRCm39)	R580*	probably null	Het
Srgap3	A	T	6: 112,706,616 (GRCm39)	M851K	probably benign	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tlcd4	T	C	3: 121,028,731 (GRCm39)	N52S	probably benign	Het
Trak2	T	C	1: 58,960,296 (GRCm39)	T236A	possibly damaging	Het
Trrap	T	C	5: 144,752,225 (GRCm39)	C1709R	possibly damaging	Het
Ttn	A	T	2: 76,584,500 (GRCm39)	S22203T	probably damaging	Het
Tut7	A	T	13: 59,947,701 (GRCm39)	N873K	probably benign	Het
Ube3a	A	G	7: 58,936,763 (GRCm39)	T701A	probably damaging	Het
Ufl1	T	C	4: 25,275,912 (GRCm39)	I164V	probably benign	Het
Vcpip1	T	C	1: 9,817,856 (GRCm39)	T176A	probably damaging	Het
Virma	T	A	4: 11,513,626 (GRCm39)	D493E	probably benign	Het
Vmn2r77	T	A	7: 86,451,247 (GRCm39)	W378R	probably benign	Het
Vps13b	A	T	15: 35,876,565 (GRCm39)	T2799S	probably damaging	Het
Vps8	T	C	16: 21,426,927 (GRCm39)	S1337P	probably benign	Het
Zfp235	A	T	7: 23,839,862 (GRCm39)	I94F	possibly damaging	Het
Zfp3	A	G	11: 70,663,366 (GRCm39)	K442E	probably damaging	Het
Zfp418	A	T	7: 7,185,104 (GRCm39)	I356F	possibly damaging	Het
Zfp790	G	A	7: 29,525,185 (GRCm39)	G68S	probably benign	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
R5304:Mmp17	UTSW	5	129,671,678 (GRCm39)	missense	probably null	0.89
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
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'- TCAAGACTGGAGCCTTTGCC -3'
(R):5'- GGAGTATACAGTGATTTAGGGAATCCC -3'

Sequencing Primer
(F):5'- TTTGCCACAGCCCATGG -3'
(R):5'- GGAATCCCATCCCCAAACC -3'

Posted On

2022-05-16