Mutagenetix > Incidental Mutations

Incidental Mutation 'R8165:Tll2'

633751

Institutional Source

Beutler Lab

Gene Symbol

Tll2

Ensembl Gene

ENSMUSG00000025013

Gene Name

tolloid-like 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R8165 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

41083981-41206774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41088874 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 818 (F818L)

Ref Sequence

ENSEMBL: ENSMUSP00000025986 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025986
AA Change: F818L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: F818L

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

probably benign
Transcript: ENSMUST00000169941
AA Change: F801L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: F801L

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

0.2942

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 63,897,946		probably null	Het
1110037F02Rik	T	A	4: 11,542,128	D1521E	probably benign	Het
Amph	A	G	13: 19,094,837	K161E	probably benign	Het
Aox2	A	T	1: 58,308,929	H602L	probably benign	Het
Areg	A	G	5: 91,143,633	N145S	probably damaging	Het
Arhgap29	C	T	3: 121,988,573	T142I	probably damaging	Het
Bcar3	C	T	3: 122,511,156		probably benign	Het
Brpf3	C	T	17: 28,806,274	A107V	probably benign	Het
Btnl2	T	A	17: 34,368,708	S509T	possibly damaging	Het
Cacna2d2	A	G	9: 107,525,454		probably null	Het
Casz1	C	T	4: 148,944,431	P1111L	probably damaging	Het
Ccdc91	C	T	6: 147,631,588	T411I	unknown	Het
Chd9	A	C	8: 91,041,141	E2422A	probably damaging	Het
Clrn3	T	C	7: 135,528,404	I34V	probably benign	Het
Cnksr3	C	T	10: 7,154,467	D79N	probably damaging	Het
Cops8	A	G	1: 90,612,007		probably null	Het
Cpa2	A	G	6: 30,564,346	K392R	probably benign	Het
Dnajc28	G	A	16: 91,616,907	R150*	probably null	Het
Dnase1l3	T	C	14: 7,994,299		probably benign	Het
Fam65a	C	A	8: 105,620,888	L1028M	unknown	Het
Gdpd5	A	T	7: 99,456,482	T502S	probably benign	Het
Gp2	A	T	7: 119,450,152	D387E	probably damaging	Het
Gpr179	A	G	11: 97,351,538	L160P	probably benign	Het
Hmcn1	G	A	1: 150,646,658	T3497M	probably benign	Het
Idh3b	T	A	2: 130,280,500	T322S	possibly damaging	Het
Kit	A	T	5: 75,620,880	N323I	possibly damaging	Het
Kng2	T	C	16: 22,987,496	S445G	unknown	Het
Lin54	A	G	5: 100,454,499	V393A	probably benign	Het
Lyst	T	A	13: 13,698,360	W2715R	probably damaging	Het
Mad1l1	T	C	5: 140,315,058	T28A	probably benign	Het
Med7	T	A	11: 46,441,246	C223S	probably benign	Het
Megf8	T	A	7: 25,353,873	L1823Q	probably damaging	Het
Mga	C	A	2: 119,947,238	Q1755K	probably benign	Het
Mgat4b	A	T	11: 50,210,974	N22I	probably benign	Het
Ndufb6	C	T	4: 40,270,665		probably null	Het
Neil3	A	G	8: 53,589,094	L490P	probably benign	Het
Nek9	C	T	12: 85,303,643	V886I	probably benign	Het
Nol4l	A	T	2: 153,420,553	Y366*	probably null	Het
Nt5dc2	A	G	14: 31,138,929	T354A	probably damaging	Het
Olfr339	T	A	2: 36,421,703	Y102N	probably damaging	Het
Pde2a	G	A	7: 101,500,448		probably null	Het
Phf1	T	C	17: 26,937,070	F444L	possibly damaging	Het
Plin4	G	A	17: 56,107,019	T202I	possibly damaging	Het
Plk4	G	C	3: 40,813,574	V851L	probably damaging	Het
Pp2d1	A	G	17: 53,515,229	S270P	probably damaging	Het
Scn9a	A	G	2: 66,540,530	F569L	probably damaging	Het
Sel1l2	T	A	2: 140,262,706	L306F	probably damaging	Het
Spic	A	T	10: 88,677,566	S86T	probably damaging	Het
Stkld1	A	G	2: 26,946,656	N278S	probably benign	Het
Taar7d	T	A	10: 24,027,597	F126I	probably benign	Het
Tbc1d31	A	G	15: 57,960,949	E869G	possibly damaging	Het
Tbcd	C	T	11: 121,493,885	T315M	probably benign	Het
Terf2	T	C	8: 107,083,024	K221E	possibly damaging	Het
Tex43	T	A	18: 56,589,475		probably benign	Het
Thsd7a	T	A	6: 12,468,963	T539S		Het
Tmem87a	T	C	2: 120,370,478	T427A	possibly damaging	Het
Ush2a	C	A	1: 188,451,755	Q1419K	possibly damaging	Het
Vill	T	A	9: 119,066,753	F511Y	probably damaging	Het
Vps13c	A	G	9: 67,858,790	D63G	probably benign	Het
Vrk2	A	G	11: 26,535,575	F138L	probably benign	Het
Zfp710	T	C	7: 80,086,027	I514T	probably damaging	Het
Zgrf1	T	A	3: 127,563,383	F753I	possibly damaging	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
R0402:Tll2	UTSW	19	41098693	missense	possibly damaging	0.56
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
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'- TAACCGGGATGTTTGAGCG -3'
(R):5'- AAAGTAAATCCAGGCAGCTGGC -3'

Sequencing Primer
(F):5'- ACAGCCTGGAAGCCTTTC -3'
(R):5'- CTCTGGGACTGGATGTCGGAC -3'

Posted On

2020-07-13