Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Mmp17'

514379

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

044495-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6341 (G1)

Quality Score

199.009

Status

Not validated

Chromosome

Chromosomal Location

129661233-129688163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129679019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 335 (R335W)

Ref Sequence

ENSEMBL: ENSMUSP00000031390 (fasta)

Gene Model

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

AlphaFold

Q9R0S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000031390
AA Change: R335W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: R335W

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,924,364 (GRCm39)	D658G	possibly damaging	Het
Amz2	A	G	11: 109,319,653 (GRCm39)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,326,828 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,840,270 (GRCm39)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,494,573 (GRCm39)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,465,978 (GRCm39)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,113,366 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,496,072 (GRCm39)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,700,933 (GRCm39)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,115,551 (GRCm39)	D594E	probably benign	Het
Ddx5	T	C	11: 106,676,368 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,168,202 (GRCm39)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,788,204 (GRCm39)		probably null	Het
Ecel1	A	G	1: 87,078,193 (GRCm39)		probably null	Het
Efcab6	T	G	15: 83,820,139 (GRCm39)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,754,959 (GRCm39)	L464P	possibly damaging	Het
Fam234a	T	A	17: 26,432,667 (GRCm39)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,065,127 (GRCm39)	V694A	probably damaging	Het
Gli2	T	C	1: 118,763,954 (GRCm39)	D1399G	probably damaging	Het
Gm10110	T	C	14: 90,134,144 (GRCm39)		noncoding transcript	Het
Hdac3	A	G	18: 38,077,217 (GRCm39)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,032,022 (GRCm39)	F52S	probably damaging	Het
Ints7	C	A	1: 191,345,239 (GRCm39)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,816,064 (GRCm39)	I878M	probably damaging	Het
Itga3	A	T	11: 94,946,677 (GRCm39)		probably null	Het
Lrfn5	T	A	12: 61,890,368 (GRCm39)	Y552*	probably null	Het
Mafb	T	C	2: 160,208,371 (GRCm39)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,822,028 (GRCm39)	S748C	probably damaging	Het
Mmp15	G	T	8: 96,092,091 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,355,229 (GRCm39)	D1005V	probably damaging	Het
Myh3	T	C	11: 66,973,822 (GRCm39)	F165S	probably benign	Het
Nacc1	T	C	8: 85,401,420 (GRCm39)	D419G	probably benign	Het
Neb	G	A	2: 52,099,486 (GRCm39)	S4545L	probably damaging	Het
Niban3	C	T	8: 72,052,721 (GRCm39)	P65L	probably damaging	Het
Npas2	T	C	1: 39,339,768 (GRCm39)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or5b12	T	C	19: 12,896,843 (GRCm39)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,602,227 (GRCm39)	Q2283L	probably benign	Het
Phax	C	T	18: 56,706,173 (GRCm39)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,152,829 (GRCm39)	K79*	probably null	Het
Pkd1	T	A	17: 24,799,201 (GRCm39)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,190,572 (GRCm39)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,288,693 (GRCm39)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,907 (GRCm39)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,863,538 (GRCm39)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,359,037 (GRCm39)	S181P	probably damaging	Het
Rigi	T	A	4: 40,222,199 (GRCm39)		probably null	Het
Rlf	G	A	4: 121,006,557 (GRCm39)	Q808*	probably null	Het
Rogdi	G	T	16: 4,831,241 (GRCm39)		probably null	Het
Sec24a	A	T	11: 51,608,603 (GRCm39)	V573D	probably damaging	Het
Sorbs2	A	G	8: 46,223,615 (GRCm39)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,219,367 (GRCm39)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,574,193 (GRCm39)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,189,473 (GRCm39)	R421H	probably damaging	Het
Top3b	T	C	16: 16,696,935 (GRCm39)	M62T	probably damaging	Het
Trhr	T	G	15: 44,092,694 (GRCm39)	Y310*	probably null	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,331,353 (GRCm39)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,448,995 (GRCm39)	M290K	probably benign	Het
Wdr75	T	C	1: 45,841,291 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,925,546 (GRCm39)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,741,001 (GRCm39)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,491,567 (GRCm39)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,948,816 (GRCm39)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,738,337 (GRCm39)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,555,957 (GRCm39)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,027,240 (GRCm39)	S276R	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
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'- ACTGACCTTGTTTGCCTGG -3'
(R):5'- CAGAAGCGATGCATTTGAGCC -3'

Sequencing Primer
(F):5'- GTTCTGGCAGGAATAGCT -3'
(R):5'- ATGCATTTGAGCCGGCTGC -3'

Posted On

2018-04-27