Mutagenetix > Incidental Mutation

Incidental Mutation 'R5057:Tll2'

390990

Institutional Source

Beutler Lab

Gene Symbol

Tll2

Ensembl Gene

ENSMUSG00000025013

Gene Name

tolloid-like 2

Synonyms

MMRRC Submission

042647-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.759) question?

Stock #

R5057 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41071192-41195274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41105705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 358 (V358A)

Ref Sequence

ENSEMBL: ENSMUSP00000125973 (fasta)

Gene Model

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

AlphaFold

Q9WVM6

Predicted Effect

probably benign
Transcript: ENSMUST00000025986
AA Change: V375A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: V375A

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: V358A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: V358A

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

0.0807

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

97% (118/122)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,057,581 (GRCm39)	H739Q	probably benign	Het
Acad12	T	A	5: 121,748,152 (GRCm39)	T89S	probably benign	Het
Adgb	A	G	10: 10,233,722 (GRCm39)	C1252R	probably benign	Het
Ankef1	A	G	2: 136,392,280 (GRCm39)		probably null	Het
Ankfy1	T	C	11: 72,650,745 (GRCm39)	L976P	probably damaging	Het
Ankib1	T	A	5: 3,784,011 (GRCm39)	I322F	possibly damaging	Het
Ankrd61	T	A	5: 143,831,613 (GRCm39)	T64S	probably benign	Het
Anxa6	T	G	11: 54,892,062 (GRCm39)	E298A	possibly damaging	Het
Apc2	A	G	10: 80,144,903 (GRCm39)	S605G	probably damaging	Het
Arih1	T	C	9: 59,393,515 (GRCm39)	N39S	unknown	Het
Bicc1	A	G	10: 70,783,713 (GRCm39)	S393P	possibly damaging	Het
Bptf	A	T	11: 106,973,354 (GRCm39)	F693L	probably damaging	Het
Cacng4	A	G	11: 107,685,197 (GRCm39)	Y32H	probably damaging	Het
Ccdc50	T	A	16: 27,257,092 (GRCm39)	D252E	probably benign	Het
Ccdc92b	C	A	11: 74,528,976 (GRCm39)	T160K	probably damaging	Het
Cd163	C	T	6: 124,302,247 (GRCm39)	T937I	probably damaging	Het
Cdh22	C	A	2: 164,958,063 (GRCm39)	V635F	probably damaging	Het
Cenpe	G	T	3: 134,926,074 (GRCm39)	A243S	probably benign	Het
Cep295	A	T	9: 15,233,979 (GRCm39)	H2272Q	probably benign	Het
Cgnl1	A	T	9: 71,632,076 (GRCm39)	V425D	probably damaging	Het
Clec4b2	A	T	6: 123,177,915 (GRCm39)	S77C	probably null	Het
Cntnap5a	C	T	1: 115,612,943 (GRCm39)	T26I	probably benign	Het
Col6a3	T	C	1: 90,743,852 (GRCm39)	K165R	possibly damaging	Het
Copb1	A	T	7: 113,825,997 (GRCm39)	N662K	probably benign	Het
Crybg1	T	A	10: 43,865,104 (GRCm39)	R1458*	probably null	Het
Cspp1	T	A	1: 10,145,186 (GRCm39)		probably benign	Het
Dhtkd1	A	G	2: 5,924,324 (GRCm39)	C430R	probably damaging	Het
Dlg5	T	C	14: 24,186,690 (GRCm39)	E1847G	probably damaging	Het
Dync2i1	A	T	12: 116,177,033 (GRCm39)	N856K	probably benign	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Ephb3	A	G	16: 21,039,197 (GRCm39)	D351G	probably damaging	Het
Exd2	T	A	12: 80,543,564 (GRCm39)	N582K	probably damaging	Het
Fam161a	T	A	11: 22,970,397 (GRCm39)	C192S	probably damaging	Het
Fbn1	A	G	2: 125,308,615 (GRCm39)	V149A	probably benign	Het
Fbxw16	A	G	9: 109,270,232 (GRCm39)	S170P	probably damaging	Het
Fndc1	T	A	17: 7,990,802 (GRCm39)	R965*	probably null	Het
Frem2	T	C	3: 53,442,617 (GRCm39)	D2640G	probably benign	Het
Gfm1	T	C	3: 67,380,877 (GRCm39)	V664A	probably damaging	Het
Gm10803	A	C	2: 93,394,517 (GRCm39)	L96F	probably damaging	Het
Gm14569	T	C	X: 35,694,470 (GRCm39)	D1413G	probably benign	Het
Gm44501	A	G	17: 40,889,563 (GRCm39)	T26A	probably benign	Het
Gpc4	G	A	X: 51,163,440 (GRCm39)	R148C	probably damaging	Het
Gpsm1	G	A	2: 26,215,369 (GRCm39)	R277Q	probably damaging	Het
Inmt	T	A	6: 55,151,883 (GRCm39)	H29L	probably benign	Het
Insrr	T	A	3: 87,722,572 (GRCm39)	C1265S	probably benign	Het
Kctd12	A	G	14: 103,219,045 (GRCm39)	F278L	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lag3	T	A	6: 124,882,318 (GRCm39)	I393F	possibly damaging	Het
Lama2	C	T	10: 27,040,982 (GRCm39)	C1447Y	probably damaging	Het
Lama3	G	A	18: 12,665,005 (GRCm39)	G2275S	probably null	Het
Lrrc17	A	T	5: 21,780,307 (GRCm39)	H427L	probably benign	Het
Med13l	T	A	5: 118,856,558 (GRCm39)	S164T	probably damaging	Het
Milr1	A	G	11: 106,657,791 (GRCm39)	D131G	possibly damaging	Het
Myo5c	A	T	9: 75,208,155 (GRCm39)	T1630S	probably damaging	Het
Nbeal2	A	T	9: 110,460,073 (GRCm39)	N1848K	probably damaging	Het
Ncor2	A	T	5: 125,125,130 (GRCm39)	V307E	possibly damaging	Het
Ndufs3	C	A	2: 90,729,004 (GRCm39)	A161S	probably benign	Het
Neo1	T	C	9: 58,897,554 (GRCm39)	D134G	probably damaging	Het
Nexmif	A	T	X: 103,130,956 (GRCm39)	N320K	probably damaging	Het
Nipal3	T	A	4: 135,194,167 (GRCm39)	I289F	probably damaging	Het
Nrg4	A	G	9: 55,189,880 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,804 (GRCm39)	I528F	probably damaging	Het
Or11h23	A	C	14: 50,948,669 (GRCm39)	N294T	probably damaging	Het
Or3a10	T	A	11: 73,935,881 (GRCm39)	D73V	probably damaging	Het
Pate2	T	C	9: 35,597,407 (GRCm39)		probably benign	Het
Pcnx2	T	C	8: 126,581,930 (GRCm39)	I935M	possibly damaging	Het
Pik3c2a	G	T	7: 115,975,518 (GRCm39)	T683K	possibly damaging	Het
Pip5k1c	G	A	10: 81,146,723 (GRCm39)		probably null	Het
Pkd1l2	G	A	8: 117,781,747 (GRCm39)	T766I	probably benign	Het
Polr3c	C	A	3: 96,619,373 (GRCm39)	L508F	probably damaging	Het
Por	A	G	5: 135,759,756 (GRCm39)	D189G	probably damaging	Het
Potefam1	A	T	2: 111,055,766 (GRCm39)	F207I	probably benign	Het
Prim2	A	T	1: 33,669,441 (GRCm39)	L178*	probably null	Het
Prima1	C	A	12: 103,168,864 (GRCm39)		probably null	Het
Ptpn21	G	A	12: 98,645,666 (GRCm39)	R1091C	probably damaging	Het
Ptpn23	G	A	9: 110,217,624 (GRCm39)	T744I	probably benign	Het
Rad21	A	T	15: 51,830,102 (GRCm39)	I503K	probably benign	Het
Rbm12	A	T	2: 155,938,806 (GRCm39)	C489S	probably benign	Het
Rpl10a	A	T	17: 28,549,607 (GRCm39)	H140L	probably benign	Het
Rpl7-ps8	A	T	15: 59,083,004 (GRCm39)		noncoding transcript	Het
Rtbdn	T	C	8: 85,681,638 (GRCm39)	F143S	probably damaging	Het
Scamp3	T	A	3: 89,089,600 (GRCm39)		probably benign	Het
Setd5	A	G	6: 113,114,922 (GRCm39)	S848G	probably damaging	Het
Sez6	T	C	11: 77,863,979 (GRCm39)	V487A	probably damaging	Het
Shc2	G	A	10: 79,459,706 (GRCm39)	P413S	probably benign	Het
Sipa1l3	T	C	7: 29,070,618 (GRCm39)	N966S	probably damaging	Het
Slc39a8	A	G	3: 135,554,790 (GRCm39)	E78G	probably benign	Het
Slc8a3	A	G	12: 81,246,332 (GRCm39)	V900A	probably damaging	Het
Slitrk3	T	C	3: 72,957,981 (GRCm39)	T264A	probably benign	Het
Spire2	G	A	8: 124,084,940 (GRCm39)	R260H	probably damaging	Het
Stk39	T	A	2: 68,051,292 (GRCm39)	I518F	probably damaging	Het
Tardbp	T	A	4: 148,703,813 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,066,456 (GRCm39)	Y2335H	probably benign	Het
Tesl1	G	A	X: 23,773,480 (GRCm39)	G327E	probably damaging	Het
Tmem268	C	G	4: 63,486,777 (GRCm39)	S100C	probably damaging	Het
Tnfsf9	A	G	17: 57,412,444 (GRCm39)	T5A	probably benign	Het
Trappc10	G	T	10: 78,052,994 (GRCm39)	F260L	possibly damaging	Het
Trim5	A	G	7: 103,914,630 (GRCm39)	Y480H	probably damaging	Het
Trmt112	T	C	19: 6,888,121 (GRCm39)	V91A	probably benign	Het
Ttn	T	A	2: 76,577,379 (GRCm39)	K22759*	probably null	Het
Ttn	C	A	2: 76,748,988 (GRCm39)	L4020F	probably benign	Het
Ubash3b	A	G	9: 40,948,755 (GRCm39)	C187R	possibly damaging	Het
Ube3b	T	C	5: 114,544,318 (GRCm39)	F572L	probably benign	Het
Ubr5	A	G	15: 38,004,353 (GRCm39)	V1332A	probably damaging	Het
Ubtd2	C	A	11: 32,466,320 (GRCm39)	R180S	probably damaging	Het
Ubtf	A	G	11: 102,197,913 (GRCm39)	S673P	probably damaging	Het
Ubtfl1	A	T	9: 18,320,487 (GRCm39)	D5V	possibly damaging	Het
Usp17la	G	A	7: 104,510,330 (GRCm39)	V312I	possibly damaging	Het
Usp17ld	G	T	7: 102,899,655 (GRCm39)	H426N	probably benign	Het
Usp34	A	G	11: 23,408,086 (GRCm39)		probably benign	Het
Vmn1r199	A	T	13: 22,567,575 (GRCm39)	T290S	possibly damaging	Het
Vmn1r33	T	C	6: 66,589,089 (GRCm39)	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Vmn2r6	T	A	3: 64,445,207 (GRCm39)	K839N	probably damaging	Het
Vmn2r65	A	G	7: 84,589,819 (GRCm39)	I699T	probably damaging	Het
Vps16	A	G	2: 130,281,372 (GRCm39)	S235G	probably benign	Het
Vwde	T	C	6: 13,192,641 (GRCm39)	I421V	possibly damaging	Het
Xiap	T	C	X: 41,183,342 (GRCm39)	F23L	probably benign	Het
Xkr7	A	G	2: 152,896,300 (GRCm39)	T385A	probably benign	Het
Znfx1	T	C	2: 166,881,746 (GRCm39)	Y217C	probably damaging	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
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'- TTATTAACTGCACAAGGGTTGGG -3'
(R):5'- GCTTTCACTTCACAGGCCTG -3'

Sequencing Primer
(F):5'- ACAAGGGTTGGGTCCTCCTAC -3'
(R):5'- GACAGGAAACTTTTCGGC -3'

Posted On

2016-06-06