Mutagenetix > Incidental Mutations

Incidental Mutation 'R0402:Tll2'

35649

Institutional Source

Beutler Lab

Gene Symbol

Tll2

Ensembl Gene

ENSMUSG00000025013

Gene Name

tolloid-like 2

Synonyms

MMRRC Submission

038607-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R0402 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41083981-41206774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41098693 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 573 (V573A)

Ref Sequence

ENSEMBL: ENSMUSP00000125973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025986] [ENSMUST00000169941]

Predicted Effect

probably benign
Transcript: ENSMUST00000025986
AA Change: V590A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: V590A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
ZnMc	152	294	1.15e-54	SMART
CUB	348	460	7.69e-44	SMART
CUB	461	573	8.69e-52	SMART
EGF_CA	573	614	1.26e-11	SMART
CUB	617	729	3.99e-51	SMART
EGF_CA	729	769	5.92e-8	SMART
CUB	773	885	3.08e-43	SMART
CUB	886	1002	2.25e-36	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169941
AA Change: V573A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: V573A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
ZnMc	152	294	1.15e-54	SMART
CUB	331	443	7.69e-44	SMART
CUB	444	556	8.69e-52	SMART
EGF_CA	556	597	1.26e-11	SMART
CUB	600	712	3.99e-51	SMART
EGF_CA	712	752	5.92e-8	SMART
CUB	756	868	3.08e-43	SMART
CUB	869	985	2.25e-36	SMART

Meta Mutation Damage Score

0.2657

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.5%
20x: 88.7%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased muscle weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,609,253	K165N	probably damaging	Het
Adam6b	T	A	12: 113,489,995	M144K	probably damaging	Het
Arhgap44	T	C	11: 65,032,077		probably benign	Het
Arl5c	T	A	11: 97,995,113	I21F	probably damaging	Het
Bglap2	C	T	3: 88,378,245	G40D	probably damaging	Het
Bptf	T	C	11: 107,074,114	E1303G	probably damaging	Het
Calhm1	T	C	19: 47,141,457	T209A	probably damaging	Het
Ccr8	A	G	9: 120,094,910		probably null	Het
Chkb	C	T	15: 89,429,407	R65Q	probably benign	Het
Col4a1	T	C	8: 11,199,838		probably benign	Het
Cryzl2	A	G	1: 157,464,444	T98A	probably benign	Het
D430041D05Rik	T	C	2: 104,168,164	T1080A	probably damaging	Het
Dhx8	C	A	11: 101,752,397	T765N	probably damaging	Het
Dicer1	T	C	12: 104,731,064	D78G	probably benign	Het
Drd2	A	G	9: 49,404,971	I344V	probably benign	Het
Edil3	A	T	13: 89,199,451		probably benign	Het
Fam71a	T	C	1: 191,164,440	D2G	probably benign	Het
Fam71f1	A	G	6: 29,323,902	T209A	probably benign	Het
Fbxw19	C	T	9: 109,484,425	G235D	probably benign	Het
Fzd1	T	C	5: 4,755,702	K627E	possibly damaging	Het
Gm10638	A	G	8: 86,746,200		probably benign	Het
Gm14124	T	A	2: 150,269,216	C609S	possibly damaging	Het
H6pd	G	T	4: 149,996,316	A24E	probably damaging	Het
Hectd2	G	T	19: 36,601,529		probably null	Het
Hps5	A	G	7: 46,790,909		probably benign	Het
Irx3	T	C	8: 91,800,668	N136S	possibly damaging	Het
Kcmf1	T	C	6: 72,849,585	M1V	probably null	Het
Klrb1	A	T	6: 128,710,620	F104I	probably benign	Het
Lrfn5	T	C	12: 61,840,017	M197T	probably benign	Het
Mpdz	A	C	4: 81,361,440	M51R	possibly damaging	Het
Mtbp	G	T	15: 55,569,070	E258*	probably null	Het
Mylk3	T	A	8: 85,352,910	H373L	probably damaging	Het
Myrfl	A	G	10: 116,828,977	S383P	probably damaging	Het
Nt5c	T	C	11: 115,490,642	*195W	probably null	Het
Ocstamp	A	G	2: 165,396,264	V360A	possibly damaging	Het
Olfr1180	A	T	2: 88,412,034	V208D	probably damaging	Het
Olfr122	T	A	17: 37,772,393	C247S	probably damaging	Het
Olfr1277	A	G	2: 111,269,863	F168S	probably damaging	Het
Olfr1330	A	T	4: 118,893,229	I49F	possibly damaging	Het
Olfr1431	A	G	19: 12,209,589	T8A	probably damaging	Het
Otop2	T	C	11: 115,326,408		probably benign	Het
Pom121l2	A	T	13: 21,988,479		probably benign	Het
Pon2	T	A	6: 5,272,410	K137*	probably null	Het
Ppip5k2	T	A	1: 97,719,854	Q1049L	probably benign	Het
Ralgapa2	C	T	2: 146,434,809	V504M	probably damaging	Het
Rph3a	G	A	5: 120,942,254	H654Y	probably damaging	Het
Sh2d1b1	T	C	1: 170,279,773		probably benign	Het
Slc15a2	G	A	16: 36,775,598	T154I	probably benign	Het
Slc45a3	T	C	1: 131,977,527	V96A	possibly damaging	Het
Slc7a4	A	G	16: 17,575,633	S101P	probably damaging	Het
Smco2	T	C	6: 146,871,135		probably benign	Het
Spata2	A	T	2: 167,483,660	V413E	probably benign	Het
Specc1l	A	G	10: 75,246,426	E552G	probably damaging	Het
Sstr5	C	T	17: 25,492,034	V74M	probably benign	Het
Timm50	G	A	7: 28,306,855	R274W	probably damaging	Het
Tm7sf3	C	A	6: 146,606,187	R459M	possibly damaging	Het
Txk	A	G	5: 72,731,762		probably null	Het
Uroc1	A	G	6: 90,347,302	D436G	probably damaging	Het
Vmn1r13	T	A	6: 57,210,098	Y81N	possibly damaging	Het
Vmn2r19	A	G	6: 123,336,182	E737G	probably damaging	Het
Wfs1	A	G	5: 36,976,980		probably benign	Het
Zfp1	G	A	8: 111,670,243	E285K	probably damaging	Het
Zfp661	G	A	2: 127,577,720	Q167*	probably null	Het
Zswim8	T	C	14: 20,710,766	F36S	probably damaging	Het
Zw10	A	G	9: 49,068,723	T385A	probably benign	Het

Other mutations in Tll2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Tll2	APN	19	41086366	missense	probably benign	0.01
IGL02028:Tll2	APN	19	41098649	nonsense	probably null
IGL02146:Tll2	APN	19	41097837	missense	probably benign	0.00
IGL02192:Tll2	APN	19	41086263	missense	possibly damaging	0.73
IGL02544:Tll2	APN	19	41135965	missense	probably damaging	1.00
PIT4677001:Tll2	UTSW	19	41130558	missense	probably benign	0.14
R0141:Tll2	UTSW	19	41097912	missense	probably damaging	1.00
R0372:Tll2	UTSW	19	41183313	critical splice acceptor site	probably null
R0393:Tll2	UTSW	19	41088826	missense	possibly damaging	0.95
R0613:Tll2	UTSW	19	41104990	missense	probably damaging	0.97
R0756:Tll2	UTSW	19	41120228	missense	probably damaging	1.00
R0757:Tll2	UTSW	19	41120228	missense	probably damaging	1.00
R0790:Tll2	UTSW	19	41103850	missense	probably damaging	0.98
R0834:Tll2	UTSW	19	41113073	missense	probably damaging	1.00
R0843:Tll2	UTSW	19	41128463	splice site	probably null
R1014:Tll2	UTSW	19	41103851	missense	probably damaging	1.00
R1178:Tll2	UTSW	19	41092847	missense	probably damaging	1.00
R1233:Tll2	UTSW	19	41095984	missense	possibly damaging	0.79
R1364:Tll2	UTSW	19	41120228	missense	probably damaging	1.00
R1367:Tll2	UTSW	19	41120228	missense	probably damaging	1.00
R1368:Tll2	UTSW	19	41120228	missense	probably damaging	1.00
R1519:Tll2	UTSW	19	41086400	missense	probably benign	0.17
R1894:Tll2	UTSW	19	41088671	critical splice donor site	probably null
R1896:Tll2	UTSW	19	41113059	missense	probably benign	0.44
R1917:Tll2	UTSW	19	41128497	missense	possibly damaging	0.83
R2170:Tll2	UTSW	19	41183275	missense	probably damaging	1.00
R4433:Tll2	UTSW	19	41121348	missense	probably benign	0.03
R4617:Tll2	UTSW	19	41098636	missense	probably benign	0.31
R4831:Tll2	UTSW	19	41130512	missense	probably damaging	1.00
R5057:Tll2	UTSW	19	41117266	missense	probably benign	0.02
R5119:Tll2	UTSW	19	41130509	missense	possibly damaging	0.48
R5194:Tll2	UTSW	19	41095897	missense	probably damaging	1.00
R5280:Tll2	UTSW	19	41117257	missense	possibly damaging	0.87
R5602:Tll2	UTSW	19	41104981	missense	possibly damaging	0.63
R5800:Tll2	UTSW	19	41104934	missense	probably benign	0.10
R6223:Tll2	UTSW	19	41135952	missense	possibly damaging	0.54
R7047:Tll2	UTSW	19	41086240	missense	probably damaging	0.99
R7155:Tll2	UTSW	19	41117284	missense	possibly damaging	0.72
R7213:Tll2	UTSW	19	41120227	missense	probably damaging	0.97
R7231:Tll2	UTSW	19	41086234	missense	probably benign	0.02
R7390:Tll2	UTSW	19	41120169	critical splice donor site	probably null
R7414:Tll2	UTSW	19	41103829	missense	probably damaging	0.98
R7757:Tll2	UTSW	19	41096008	missense	probably damaging	1.00
R8165:Tll2	UTSW	19	41088874	missense	possibly damaging	0.79
R8418:Tll2	UTSW	19	41092837	missense	probably damaging	1.00
X0027:Tll2	UTSW	19	41183303	missense	probably damaging	1.00
Z1177:Tll2	UTSW	19	41092734	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGAATGGTACACACCCACAGCAGG -3'
(R):5'- AGTTCCAGGGCATTTCCATGAAGC -3'

Sequencing Primer
(F):5'- CATCTTCAAGGGTGGCTGAAATC -3'
(R):5'- ATCCTGGATAACTAGATGCCCTG -3'

Posted On

2013-05-09