Mutagenetix > Incidental Mutation

Incidental Mutation 'R1233:Tll2'

152371

Institutional Source

Beutler Lab

Gene Symbol

Tll2

Ensembl Gene

ENSMUSG00000025013

Gene Name

tolloid-like 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.759) question?

Stock #

R1233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41071192-41195274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41084423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 668 (A668D)

Ref Sequence

ENSEMBL: ENSMUSP00000125973 (fasta)

Gene Model

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

AlphaFold

Q9WVM6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025986
AA Change: A685D

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: A685D

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: A668D

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: A668D

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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.9%
20x: 90.9%

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,288,419 (GRCm39)		probably null	Het
Aopep	T	A	13: 63,347,334 (GRCm39)	M631K	probably damaging	Het
Arfgef1	T	C	1: 10,254,315 (GRCm39)	D773G	probably damaging	Het
Arhgap45	T	C	10: 79,863,416 (GRCm39)	I753T	probably damaging	Het
Cd274	T	A	19: 29,351,301 (GRCm39)		probably null	Het
Cdh16	C	T	8: 105,345,114 (GRCm39)	A392T	possibly damaging	Het
Csmd3	T	C	15: 48,536,927 (GRCm39)	T92A	probably damaging	Het
Exosc8	A	T	3: 54,639,419 (GRCm39)	C129S	probably benign	Het
Fat3	T	G	9: 15,834,041 (GRCm39)	I4184L	probably benign	Het
Frem2	A	G	3: 53,455,199 (GRCm39)	Y2126H	probably damaging	Het
Fsbp	T	C	4: 11,580,053 (GRCm39)	M107T	possibly damaging	Het
Gper1	A	G	5: 139,412,357 (GRCm39)	Y234C	probably damaging	Het
Hmcn1	T	C	1: 150,624,777 (GRCm39)	S1043G	probably benign	Het
Kif2a	T	A	13: 107,123,840 (GRCm39)	K137N	probably damaging	Het
Mrc2	T	C	11: 105,239,241 (GRCm39)	F1332S	probably damaging	Het
Nme8	T	A	13: 19,844,682 (GRCm39)	M375L	possibly damaging	Het
Or1e32	T	A	11: 73,705,176 (GRCm39)	H244L	probably damaging	Het
Per1	T	C	11: 68,993,037 (GRCm39)	L298P	probably damaging	Het
Polr2b	A	G	5: 77,482,412 (GRCm39)	N650S	probably benign	Het
Ppara	T	C	15: 85,682,222 (GRCm39)	V306A	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Repin1	A	G	6: 48,574,768 (GRCm39)	T566A	possibly damaging	Het
Rhot2	T	A	17: 26,063,071 (GRCm39)	D57V	probably damaging	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Slc5a8	C	A	10: 88,754,304 (GRCm39)	P435H	probably damaging	Het
Stpg1	G	A	4: 135,252,740 (GRCm39)	A164T	probably benign	Het
Txnl1	T	A	18: 63,808,539 (GRCm39)	M180L	probably benign	Het
Vopp1	A	C	6: 57,766,980 (GRCm39)	L32R	probably damaging	Het
Wdr95	C	T	5: 149,505,323 (GRCm39)	T226I	possibly damaging	Het
Wdr95	C	A	5: 149,518,829 (GRCm39)	Q557K	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
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
R7231:Tll2	UTSW	19	41,074,673 (GRCm39)	missense	probably benign	0.02
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'- GATGTCAGTGGGATGTGACCAACAG -3'
(R):5'- TCACCGTGAAATACAAGGGTGAAGC -3'

Sequencing Primer
(F):5'- GCTGCACTTGATGTATGACAACC -3'
(R):5'- AGTCAGAGGATACCACAACTATG -3'

Posted On

2014-01-29