Mutagenetix > Incidental Mutation

Incidental Mutation 'R4831:Tll2'

372863

Institutional Source

Beutler Lab

Gene Symbol

Tll2

Ensembl Gene

ENSMUSG00000025013

Gene Name

tolloid-like 2

Synonyms

MMRRC Submission

042447-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R4831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41071192-41195274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41118951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 259 (H259L)

Ref Sequence

ENSEMBL: ENSMUSP00000125973 (fasta)

Gene Model

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

AlphaFold

Q9WVM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025986
AA Change: H259L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: H259L

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 damaging
Transcript: ENSMUST00000169941
AA Change: H259L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: H259L

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

0.9208

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (96/97)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,791,403 (GRCm39)	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,744,183 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,492,077 (GRCm39)	K4373*	probably null	Het
Abtb2	A	T	2: 103,513,820 (GRCm39)	T410S	probably benign	Het
Adamts13	T	C	2: 26,873,142 (GRCm39)		probably null	Het
Ahnak2	C	G	12: 112,742,183 (GRCm39)	D630H	probably damaging	Het
Aox3	T	C	1: 58,191,725 (GRCm39)	S426P	probably damaging	Het
Atxn10	C	T	15: 85,271,260 (GRCm39)	S266F	probably benign	Het
B4galnt4	G	T	7: 140,647,634 (GRCm39)	M407I	probably damaging	Het
B4galnt4	T	A	7: 140,644,470 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,197,872 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,955,864 (GRCm39)		probably null	Het
Cdc42bpg	T	C	19: 6,361,365 (GRCm39)	F297S	probably damaging	Het
Cdh10	A	T	15: 19,013,664 (GRCm39)	T755S	probably benign	Het
Ceacam12	T	A	7: 17,811,305 (GRCm39)		probably null	Het
Cfap65	C	A	1: 74,956,454 (GRCm39)	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,875,844 (GRCm39)	I89V	probably benign	Het
Cfh	T	C	1: 140,014,125 (GRCm39)	D688G	probably benign	Het
Clip1	C	G	5: 123,721,664 (GRCm39)	A1182P	probably damaging	Het
Cyp2b10	T	A	7: 25,614,921 (GRCm39)	Y309*	probably null	Het
Dcaf5	T	C	12: 80,385,858 (GRCm39)	E756G	probably benign	Het
Dctn1	A	T	6: 83,176,753 (GRCm39)	Q1231L	possibly damaging	Het
Dennd1c	T	A	17: 57,373,428 (GRCm39)	R682*	probably null	Het
Eml6	C	A	11: 29,727,052 (GRCm39)	E1319*	probably null	Het
Erap1	T	C	13: 74,838,766 (GRCm39)	I904T	probably damaging	Het
Eri1	A	T	8: 35,943,673 (GRCm39)	I207N	possibly damaging	Het
Farp1	G	A	14: 121,514,469 (GRCm39)	A933T	probably damaging	Het
Fcna	T	A	2: 25,515,353 (GRCm39)	Q210L	probably benign	Het
Fhad1	A	T	4: 141,643,378 (GRCm39)		probably null	Het
Fut8	T	G	12: 77,440,603 (GRCm39)	Y197D	probably damaging	Het
Garem1	G	A	18: 21,262,825 (GRCm39)	T663I	probably benign	Het
Gfm2	T	C	13: 97,301,546 (GRCm39)	S450P	probably damaging	Het
Gstk1	T	G	6: 42,222,938 (GRCm39)		probably benign	Het
Helz2	C	T	2: 180,879,210 (GRCm39)	A803T	probably damaging	Het
Igsf9	T	A	1: 172,319,455 (GRCm39)	I280N	probably damaging	Het
Klhl10	A	G	11: 100,336,669 (GRCm39)	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,768,558 (GRCm39)	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,546,453 (GRCm39)	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,840,414 (GRCm39)	E1051K	possibly damaging	Het
Mettl17	T	C	14: 52,122,440 (GRCm39)	F13S	probably benign	Het
Mettl24	C	A	10: 40,559,413 (GRCm39)	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,331 (GRCm39)	C61S	probably benign	Het
Mob4	T	G	1: 55,191,899 (GRCm39)	D204E	probably benign	Het
Mtus1	C	G	8: 41,536,189 (GRCm39)	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,149,844 (GRCm39)	F484I	possibly damaging	Het
Nsrp1	T	C	11: 76,941,444 (GRCm39)	N88S	probably benign	Het
Odad2	G	T	18: 7,222,564 (GRCm39)	H568Q	possibly damaging	Het
Or10d5	C	T	9: 39,861,408 (GRCm39)	V220I	probably benign	Het
Or2g25	T	A	17: 37,970,969 (GRCm39)	H85L	probably benign	Het
Or51b6b	T	C	7: 103,309,678 (GRCm39)	T260A	probably benign	Het
Or6c2	T	A	10: 129,362,449 (GRCm39)	Y118N	probably damaging	Het
Parg	A	G	14: 31,924,408 (GRCm39)	N69S	probably benign	Het
Pcdh9	A	C	14: 94,125,377 (GRCm39)	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,653,615 (GRCm39)	L694F	probably damaging	Het
Pcnt	T	C	10: 76,248,335 (GRCm39)	E928G	probably damaging	Het
Pdzk1	G	A	3: 96,775,751 (GRCm39)	G373D	probably benign	Het
Pea15a	A	G	1: 172,026,740 (GRCm39)	I89T	probably damaging	Het
Phc1	T	A	6: 122,313,964 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,235,900 (GRCm39)	C191S	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Pld5	A	G	1: 176,102,450 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,173,130 (GRCm39)	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293 (GRCm39)	N315K	probably damaging	Het
Pnpla1	T	A	17: 29,097,518 (GRCm39)	M228K	probably benign	Het
Prim2	T	C	1: 33,709,217 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,246,987 (GRCm39)		probably benign	Het
Rgs22	G	T	15: 36,050,294 (GRCm39)	H719N	probably benign	Het
Ror2	C	T	13: 53,272,880 (GRCm39)	D250N	probably damaging	Het
Saal1	A	G	7: 46,349,071 (GRCm39)	V281A	probably benign	Het
Selenof	A	T	3: 144,296,411 (GRCm39)	K94N	probably damaging	Het
Slamf9	T	A	1: 172,304,831 (GRCm39)	C148*	probably null	Het
Slc4a7	T	C	14: 14,772,699 (GRCm38)		probably null	Het
Slco1a5	A	G	6: 142,180,431 (GRCm39)	I657T	probably benign	Het
St3gal2	A	T	8: 111,684,480 (GRCm39)	H46L	probably benign	Het
Sucnr1	T	G	3: 59,994,069 (GRCm39)	M199R	probably damaging	Het
Taok1	T	A	11: 77,444,500 (GRCm39)	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,235,445 (GRCm39)	E298V	probably damaging	Het
Tpcn1	A	T	5: 120,691,554 (GRCm39)	F300Y	probably damaging	Het
Uba6	T	A	5: 86,279,197 (GRCm39)	I642L	probably benign	Het
Ubqln5	T	A	7: 103,778,829 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,827 (GRCm39)	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,741,672 (GRCm39)	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,761,494 (GRCm39)	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,720,352 (GRCm39)	D380N	probably benign	Het
Vps13a	C	T	19: 16,655,356 (GRCm39)	V1891I	probably benign	Het
Wbp2	G	T	11: 115,971,463 (GRCm39)	Y147*	probably null	Het
Wdr46	T	A	17: 34,160,810 (GRCm39)	N191K	probably benign	Het
Wdr46	T	C	17: 34,168,373 (GRCm39)		probably benign	Het
Wnt2	A	C	6: 18,023,285 (GRCm39)	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,003,053 (GRCm39)	D100V	probably benign	Het
Xpo4	T	C	14: 57,827,559 (GRCm39)	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,938,948 (GRCm39)	V978D	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
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'- ACAACAGCTTGCCAAGTGTG -3'
(R):5'- ATCTCCCACCTCTGAAATGC -3'

Sequencing Primer
(F):5'- GTGTGGTCACTGCCTTCACTG -3'
(R):5'- GATATCCTCAGACCTGCTAATATGC -3'

Posted On

2016-03-01