Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Tll2'

562519

Institutional Source

Beutler Lab

Gene Symbol

Tll2

Ensembl Gene

ENSMUSG00000025013

Gene Name

tolloid-like 2

Synonyms

MMRRC Submission

045342-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41071192-41195274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41074673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 964 (F964L)

Ref Sequence

ENSEMBL: ENSMUSP00000025986 (fasta)

Gene Model

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

AlphaFold

Q9WVM6

Predicted Effect

probably benign
Transcript: ENSMUST00000025986
AA Change: F964L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: F964L

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: F947L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: F947L

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

0.2678

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (78/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,244,175 (GRCm39)	T2013S	probably benign	Het
Ablim3	A	G	18: 61,938,135 (GRCm39)		probably null	Het
Acvrl1	T	A	15: 101,034,104 (GRCm39)	C206*	probably null	Het
Adamts15	C	A	9: 30,817,454 (GRCm39)	R541S	probably damaging	Het
Add3	A	G	19: 53,221,577 (GRCm39)	I230V	probably benign	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Asxl3	A	G	18: 22,650,597 (GRCm39)	E862G	probably damaging	Het
Asxl3	A	T	18: 22,544,556 (GRCm39)		probably null	Het
Atp2b2	G	A	6: 113,742,693 (GRCm39)	T798M	possibly damaging	Het
Car12	T	C	9: 66,659,599 (GRCm39)	I208T	probably damaging	Het
Cgn	T	A	3: 94,680,502 (GRCm39)	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,539,927 (GRCm39)	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,949,178 (GRCm39)	V496A	probably benign	Het
Cplx4	C	A	18: 66,090,123 (GRCm39)	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,114,963 (GRCm39)	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,466,894 (GRCm39)	L193P	probably damaging	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Depdc5	C	A	5: 33,059,209 (GRCm39)	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,362,840 (GRCm39)	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,890,892 (GRCm39)	E3218V	probably benign	Het
Dnah9	T	C	11: 65,856,473 (GRCm39)	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,447,022 (GRCm39)	G557*	probably null	Het
Eps8l2	A	G	7: 140,940,305 (GRCm39)	N512D	probably damaging	Het
Fam20a	T	C	11: 109,612,201 (GRCm39)	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,090,353 (GRCm39)	S7P	unknown	Het
Fli1	T	C	9: 32,335,484 (GRCm39)	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Haus8	G	A	8: 71,705,781 (GRCm39)	T302I	probably benign	Het
Hmcn1	T	C	1: 150,514,627 (GRCm39)	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,447,842 (GRCm39)	Q161*	probably null	Het
Hsf4	C	T	8: 105,998,779 (GRCm39)	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,251,636 (GRCm39)	W164R		Het
Isl1	A	G	13: 116,439,826 (GRCm39)	V174A	probably benign	Het
Itih4	A	T	14: 30,618,571 (GRCm39)	I661F	probably benign	Het
Klhl14	A	T	18: 21,785,193 (GRCm39)	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,215,180 (GRCm39)	I177F	unknown	Het
Lingo3	T	A	10: 80,670,938 (GRCm39)	T331S	possibly damaging	Het
Lrrc36	T	C	8: 106,187,689 (GRCm39)	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,342,279 (GRCm39)	S497A	probably benign	Het
Mbip	A	G	12: 56,384,547 (GRCm39)		probably null	Het
Nelfa	C	T	5: 34,056,169 (GRCm39)	G498D	probably damaging	Het
Nherf2	C	T	17: 24,869,078 (GRCm39)	R16H	probably damaging	Het
Nlrc5	T	A	8: 95,248,433 (GRCm39)		probably null	Het
Or2ag2b	A	T	7: 106,417,650 (GRCm39)	Y120F	probably damaging	Het
Or4f59	A	T	2: 111,872,711 (GRCm39)	V222D	probably damaging	Het
Or56a3	T	C	7: 104,734,994 (GRCm39)	S24P	possibly damaging	Het
Or7e171-ps1	T	A	9: 19,852,855 (GRCm39)	T294S	unknown	Het
Pde2a	A	G	7: 101,155,160 (GRCm39)	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,777,891 (GRCm39)	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,700,389 (GRCm39)	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,633,492 (GRCm39)	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,994,986 (GRCm39)	Y572N	probably benign	Het
Prkcq	T	A	2: 11,295,262 (GRCm39)	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062 (GRCm39)	D226V	probably damaging	Het
Rab1b	A	G	19: 5,155,229 (GRCm39)	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,650,976 (GRCm39)	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Samd15	T	A	12: 87,247,818 (GRCm39)	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,597,945 (GRCm39)	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,159,097 (GRCm39)	H141Q	probably benign	Het
Snx21	T	C	2: 164,628,121 (GRCm39)	S46P	probably benign	Het
Strip2	A	G	6: 29,944,486 (GRCm39)	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,708,125 (GRCm39)	P392L	probably damaging	Het
Suclg1	G	A	6: 73,240,954 (GRCm39)	R161H	probably benign	Het
Tas1r3	T	C	4: 155,947,283 (GRCm39)	Y134C	probably damaging	Het
Tgif1	T	A	17: 71,153,168 (GRCm39)	Q114L	probably damaging	Het
Tmem181a	T	C	17: 6,348,195 (GRCm39)	S247P	possibly damaging	Het
Trav23	A	T	14: 54,215,025 (GRCm39)	R79S	probably damaging	Het
Trf	C	A	9: 103,102,347 (GRCm39)	C177F	probably damaging	Het
Triml1	T	C	8: 43,589,408 (GRCm39)	Y260C	probably benign	Het
Tulp4	T	C	17: 6,286,510 (GRCm39)	F1513L	probably benign	Het
Umodl1	G	A	17: 31,205,090 (GRCm39)	V562I	probably damaging	Het
Ush2a	A	G	1: 188,491,960 (GRCm39)	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,580,888 (GRCm39)	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,100,637 (GRCm39)	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 9,787,010 (GRCm39)	N32K	probably benign	Het
Vps13d	A	G	4: 144,784,032 (GRCm39)	V3914A		Het
Vwa5b2	A	G	16: 20,422,878 (GRCm39)	T984A	probably benign	Het
Zc3h3	C	T	15: 75,712,231 (GRCm39)	V77M	probably damaging	Het
Zfp397	A	T	18: 24,093,415 (GRCm39)	H300L	probably damaging	Het
Zfp950	G	A	19: 61,107,650 (GRCm39)	R478C	probably benign	Het

Other mutations in Tll2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Tll2	APN	19	41,074,805 (GRCm39)	missense	probably benign	0.01
IGL02028:Tll2	APN	19	41,087,088 (GRCm39)	nonsense	probably null
IGL02146:Tll2	APN	19	41,086,276 (GRCm39)	missense	probably benign	0.00
IGL02192:Tll2	APN	19	41,074,702 (GRCm39)	missense	possibly damaging	0.73
IGL02544:Tll2	APN	19	41,124,404 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Tll2	UTSW	19	41,118,997 (GRCm39)	missense	probably benign	0.14
R0141:Tll2	UTSW	19	41,086,351 (GRCm39)	missense	probably damaging	1.00
R0372:Tll2	UTSW	19	41,171,752 (GRCm39)	critical splice acceptor site	probably null
R0393:Tll2	UTSW	19	41,077,265 (GRCm39)	missense	possibly damaging	0.95
R0402:Tll2	UTSW	19	41,087,132 (GRCm39)	missense	possibly damaging	0.56
R0613:Tll2	UTSW	19	41,093,429 (GRCm39)	missense	probably damaging	0.97
R0756:Tll2	UTSW	19	41,108,667 (GRCm39)	missense	probably damaging	1.00
R0757:Tll2	UTSW	19	41,108,667 (GRCm39)	missense	probably damaging	1.00
R0790:Tll2	UTSW	19	41,092,289 (GRCm39)	missense	probably damaging	0.98
R0834:Tll2	UTSW	19	41,101,512 (GRCm39)	missense	probably damaging	1.00
R0843:Tll2	UTSW	19	41,116,902 (GRCm39)	splice site	probably null
R1014:Tll2	UTSW	19	41,092,290 (GRCm39)	missense	probably damaging	1.00
R1178:Tll2	UTSW	19	41,081,286 (GRCm39)	missense	probably damaging	1.00
R1233:Tll2	UTSW	19	41,084,423 (GRCm39)	missense	possibly damaging	0.79
R1364:Tll2	UTSW	19	41,108,667 (GRCm39)	missense	probably damaging	1.00
R1367:Tll2	UTSW	19	41,108,667 (GRCm39)	missense	probably damaging	1.00
R1368:Tll2	UTSW	19	41,108,667 (GRCm39)	missense	probably damaging	1.00
R1519:Tll2	UTSW	19	41,074,839 (GRCm39)	missense	probably benign	0.17
R1894:Tll2	UTSW	19	41,077,110 (GRCm39)	critical splice donor site	probably null
R1896:Tll2	UTSW	19	41,101,498 (GRCm39)	missense	probably benign	0.44
R1917:Tll2	UTSW	19	41,116,936 (GRCm39)	missense	possibly damaging	0.83
R2170:Tll2	UTSW	19	41,171,714 (GRCm39)	missense	probably damaging	1.00
R4433:Tll2	UTSW	19	41,109,787 (GRCm39)	missense	probably benign	0.03
R4617:Tll2	UTSW	19	41,087,075 (GRCm39)	missense	probably benign	0.31
R4831:Tll2	UTSW	19	41,118,951 (GRCm39)	missense	probably damaging	1.00
R5057:Tll2	UTSW	19	41,105,705 (GRCm39)	missense	probably benign	0.02
R5119:Tll2	UTSW	19	41,118,948 (GRCm39)	missense	possibly damaging	0.48
R5194:Tll2	UTSW	19	41,084,336 (GRCm39)	missense	probably damaging	1.00
R5280:Tll2	UTSW	19	41,105,696 (GRCm39)	missense	possibly damaging	0.87
R5602:Tll2	UTSW	19	41,093,420 (GRCm39)	missense	possibly damaging	0.63
R5800:Tll2	UTSW	19	41,093,373 (GRCm39)	missense	probably benign	0.10
R6223:Tll2	UTSW	19	41,124,391 (GRCm39)	missense	possibly damaging	0.54
R7047:Tll2	UTSW	19	41,074,679 (GRCm39)	missense	probably damaging	0.99
R7155:Tll2	UTSW	19	41,105,723 (GRCm39)	missense	possibly damaging	0.72
R7213:Tll2	UTSW	19	41,108,666 (GRCm39)	missense	probably damaging	0.97
R7390:Tll2	UTSW	19	41,108,608 (GRCm39)	critical splice donor site	probably null
R7414:Tll2	UTSW	19	41,092,268 (GRCm39)	missense	probably damaging	0.98
R7757:Tll2	UTSW	19	41,084,447 (GRCm39)	missense	probably damaging	1.00
R8165:Tll2	UTSW	19	41,077,313 (GRCm39)	missense	possibly damaging	0.79
R8418:Tll2	UTSW	19	41,081,276 (GRCm39)	missense	probably damaging	1.00
R8788:Tll2	UTSW	19	41,109,814 (GRCm39)	missense	probably benign	0.00
R8811:Tll2	UTSW	19	41,195,012 (GRCm39)	missense	probably benign
R9227:Tll2	UTSW	19	41,093,436 (GRCm39)	missense	probably benign	0.34
R9230:Tll2	UTSW	19	41,093,436 (GRCm39)	missense	probably benign	0.34
R9280:Tll2	UTSW	19	41,077,309 (GRCm39)	missense	possibly damaging	0.83
R9282:Tll2	UTSW	19	41,074,772 (GRCm39)	missense	probably benign
R9382:Tll2	UTSW	19	41,116,997 (GRCm39)	missense	probably benign	0.04
R9715:Tll2	UTSW	19	41,092,238 (GRCm39)	missense	probably damaging	0.99
R9760:Tll2	UTSW	19	41,119,084 (GRCm39)	missense	probably damaging	1.00
R9801:Tll2	UTSW	19	41,194,993 (GRCm39)	missense	probably benign
X0027:Tll2	UTSW	19	41,171,742 (GRCm39)	missense	probably damaging	1.00
Z1177:Tll2	UTSW	19	41,081,173 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TTGTGTGACTGGAAGACACC -3'
(R):5'- AGACCAAAGAGCTCTATTCCCATG -3'

Sequencing Primer
(F):5'- TGACTGGAAGACACCTGCCTG -3'
(R):5'- AGAGCTCTATTCCCATGCCCAG -3'

Posted On

2019-06-26