Mutagenetix > Incidental Mutation

Incidental Mutation 'R5646:Timp2'

441179

Institutional Source

Beutler Lab

Gene Symbol

Timp2

Ensembl Gene

ENSMUSG00000017466

Gene Name

tissue inhibitor of metalloproteinase 2

Synonyms

Timp-2, TIMP-2, D11Bwg1104e

MMRRC Submission

043294-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5646 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

118191887-118246237 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 118208358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017610] [ENSMUST00000155707]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000017610

SMART Domains

Protein: ENSMUSP00000017610
Gene: ENSMUSG00000017466

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
NTR	27	203	1.05e-135	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000155707

SMART Domains

Protein: ENSMUSP00000122642
Gene: ENSMUSG00000017466

Domain	Start	End	E-Value	Type
NTR	1	126	1.48e-71	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired activation of pro-matrix metalloproteinase-2, but appear phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add1	C	A	5: 34,788,024 (GRCm39)	A691D	probably benign	Het
Agap3	C	A	5: 24,688,395 (GRCm39)	D394E	probably benign	Het
Arhgef11	T	C	3: 87,591,793 (GRCm39)	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,052,277 (GRCm39)	V402A	probably benign	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Bsn	A	T	9: 107,987,631 (GRCm39)		probably benign	Het
Camk1	A	G	6: 113,316,301 (GRCm39)	V81A	probably damaging	Het
Cass4	T	G	2: 172,258,165 (GRCm39)	C54W	probably damaging	Het
Ccdc39	A	T	3: 33,879,699 (GRCm39)	F456L	probably damaging	Het
Cdc42bpa	A	G	1: 179,933,659 (GRCm39)	E766G	probably damaging	Het
Cdcp2	T	C	4: 106,962,339 (GRCm39)	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,371 (GRCm39)	E118K	probably damaging	Het
Col4a2	G	A	8: 11,491,281 (GRCm39)	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,336,665 (GRCm39)	T5A	probably benign	Het
Dlg5	T	A	14: 24,208,767 (GRCm39)	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,174,515 (GRCm39)	S405F	possibly damaging	Het
Drd2	A	G	9: 49,316,212 (GRCm39)	K324R	probably benign	Het
Ergic1	T	C	17: 26,833,332 (GRCm39)	S29P	probably damaging	Het
Fmnl1	A	G	11: 103,087,338 (GRCm39)		probably benign	Het
Foxd2	C	T	4: 114,765,832 (GRCm39)	A63T	unknown	Het
Gfap	T	C	11: 102,782,282 (GRCm39)	I409M	probably benign	Het
Gfpt1	A	G	6: 87,019,981 (GRCm39)	M1V	probably null	Het
H2-T23	C	G	17: 36,342,695 (GRCm39)	E148Q	possibly damaging	Het
Hip1	G	A	5: 135,457,595 (GRCm39)	R704W	probably damaging	Het
Kif19a	A	C	11: 114,670,480 (GRCm39)	D130A	probably damaging	Het
Lin7b	T	C	7: 45,018,617 (GRCm39)	D14G	probably damaging	Het
Meioc	T	A	11: 102,566,083 (GRCm39)	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,711,663 (GRCm39)	G68*	probably null	Het
Mitf	A	T	6: 97,990,655 (GRCm39)	I184F	probably damaging	Het
Mmp9	T	A	2: 164,790,970 (GRCm39)	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,407,346 (GRCm39)	H2768L	probably benign	Het
Myh2	A	T	11: 67,079,638 (GRCm39)	I1032F	probably benign	Het
Myo3b	T	C	2: 70,144,774 (GRCm39)	I1110T	probably damaging	Het
Nde1	T	C	16: 13,987,378 (GRCm39)	F8L	probably damaging	Het
Or10aa3	C	T	1: 173,878,853 (GRCm39)	Q305*	probably null	Het
Or2a25	A	G	6: 42,888,457 (GRCm39)		probably null	Het
Or2h2b-ps1	T	C	17: 37,480,808 (GRCm39)	I244V	probably benign	Het
Or4f47	T	C	2: 111,973,028 (GRCm39)	V246A	possibly damaging	Het
Or51r1	A	C	7: 102,228,512 (GRCm39)	Y270S	possibly damaging	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c202	T	C	10: 128,996,706 (GRCm39)	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,859,823 (GRCm39)	H293R	probably benign	Het
Pde7a	A	T	3: 19,287,937 (GRCm39)	L244Q	probably damaging	Het
Pex14	T	C	4: 149,045,910 (GRCm39)	D340G	probably benign	Het
Pfkfb4	A	T	9: 108,837,489 (GRCm39)	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,005,186 (GRCm39)	G361W	probably damaging	Het
Prkcg	T	A	7: 3,377,597 (GRCm39)	M517K	probably damaging	Het
Prob1	A	T	18: 35,787,167 (GRCm39)	F362L	probably benign	Het
Rims4	C	T	2: 163,705,937 (GRCm39)	W232*	probably null	Het
Robo2	T	C	16: 73,758,707 (GRCm39)	D688G	probably damaging	Het
Sec24c	C	A	14: 20,729,641 (GRCm39)	A73E	probably benign	Het
Slc15a3	A	G	19: 10,820,574 (GRCm39)	N64D	probably benign	Het
Smg1	A	T	7: 117,811,782 (GRCm39)	N65K	probably benign	Het
Spata31h1	A	G	10: 82,119,610 (GRCm39)	S4467P	probably damaging	Het
Sptb	G	T	12: 76,634,215 (GRCm39)	D2165E	probably benign	Het
Sptbn5	A	T	2: 119,879,292 (GRCm39)		noncoding transcript	Het
Syt12	A	T	19: 4,506,569 (GRCm39)	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,636,671 (GRCm39)	V126A	probably benign	Het
Thbs3	T	C	3: 89,126,405 (GRCm39)	L242P	probably damaging	Het
Tmtc1	G	A	6: 148,148,329 (GRCm39)	A751V	probably damaging	Het
Tnni2	A	T	7: 141,997,650 (GRCm39)	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,162,307 (GRCm39)	P319L	probably damaging	Het
Ttc6	A	T	12: 57,622,805 (GRCm39)	K68M	probably damaging	Het
Usp25	G	A	16: 76,847,360 (GRCm39)	R156Q	probably benign	Het
Vill	A	T	9: 118,900,230 (GRCm39)	D365V	probably damaging	Het
Vmn1r65	T	A	7: 6,012,223 (GRCm39)	T4S	probably benign	Het
Vmn2r76	C	A	7: 85,875,261 (GRCm39)	C572F	probably damaging	Het
Vps26a	A	C	10: 62,304,077 (GRCm39)	N181K	probably damaging	Het
Xirp2	T	C	2: 67,341,134 (GRCm39)	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,351,501 (GRCm39)	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526 (GRCm39)	D144G	probably benign	Het
Zfp600	T	C	4: 146,131,670 (GRCm39)	S113P	probably damaging	Het
Zfp84	C	T	7: 29,475,818 (GRCm39)	T170M	probably benign	Het
Zmiz2	T	A	11: 6,352,837 (GRCm39)	D654E	probably damaging	Het
Zswim4	A	T	8: 84,957,739 (GRCm39)		probably null	Het

Other mutations in Timp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2508:Timp2	UTSW	11	118,201,412 (GRCm39)	missense	probably damaging	1.00
R3899:Timp2	UTSW	11	118,194,542 (GRCm39)	missense	probably damaging	0.99
R3900:Timp2	UTSW	11	118,194,542 (GRCm39)	missense	probably damaging	0.99
R4366:Timp2	UTSW	11	118,201,497 (GRCm39)	missense	probably damaging	0.99
R4632:Timp2	UTSW	11	118,194,598 (GRCm39)	missense	probably benign	0.00
R5496:Timp2	UTSW	11	118,194,707 (GRCm39)	missense	probably benign	0.00
R5609:Timp2	UTSW	11	118,210,987 (GRCm39)	missense	probably damaging	1.00
R7733:Timp2	UTSW	11	118,208,355 (GRCm39)	critical splice acceptor site	probably null
R7737:Timp2	UTSW	11	118,194,721 (GRCm39)	missense	probably damaging	1.00
R7808:Timp2	UTSW	11	118,194,626 (GRCm39)	missense	probably damaging	1.00
R9525:Timp2	UTSW	11	118,194,678 (GRCm39)	missense	probably benign	0.00
Z1177:Timp2	UTSW	11	118,201,415 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTTCCTTAGGGACCAGGAC -3'
(R):5'- GTGCTTACCCGCTAAGATGTCC -3'

Sequencing Primer
(F):5'- AGGACACTGGAATTCTCTGC -3'
(R):5'- GCTAAGATGTCCCCACAGC -3'

Posted On

2016-11-08