Mutagenetix > Incidental Mutation

Incidental Mutation 'R7414:Tll2'

575349

Institutional Source

Beutler Lab

Gene Symbol

Tll2

Ensembl Gene

ENSMUSG00000025013

Gene Name

tolloid-like 2

Synonyms

MMRRC Submission

045494-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.759) question?

Stock #

R7414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41071192-41195274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41092268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 523 (D523G)

Ref Sequence

ENSEMBL: ENSMUSP00000025986 (fasta)

Gene Model

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

AlphaFold

Q9WVM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025986
AA Change: D523G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: D523G

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: D506G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: D506G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (98/101)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,349,779 (GRCm39)	T90M	probably damaging	Het
Abca4	T	A	3: 121,896,387 (GRCm39)	S540T	probably benign	Het
Adcy4	G	A	14: 56,019,090 (GRCm39)	L156F	probably benign	Het
Adcyap1	T	A	17: 93,510,256 (GRCm39)	L95M	probably damaging	Het
Ahctf1	T	C	1: 179,611,670 (GRCm39)	T567A	probably benign	Het
Ankrd26	T	C	6: 118,485,741 (GRCm39)	I1378V	possibly damaging	Het
Ankrd44	T	A	1: 54,706,539 (GRCm39)	H639L	probably damaging	Het
Arfrp1	C	T	2: 181,001,307 (GRCm39)	R189Q	possibly damaging	Het
Astn2	T	C	4: 65,459,193 (GRCm39)	D1126G	possibly damaging	Het
Bap1	G	C	14: 30,975,572 (GRCm39)	G139R	probably benign	Het
Bms1	C	T	6: 118,360,706 (GRCm39)	R1254Q	possibly damaging	Het
Ceacam15	A	G	7: 16,407,235 (GRCm39)	V94A	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cip2a	T	C	16: 48,821,998 (GRCm39)	F209L	probably benign	Het
Clec2m	T	C	6: 129,302,596 (GRCm39)	T144A	probably benign	Het
Clock	T	C	5: 76,410,611 (GRCm39)	T87A	probably benign	Het
Cntrl	A	T	2: 35,055,479 (GRCm39)	I1706L	probably benign	Het
Cr2	C	A	1: 194,832,344 (GRCm39)	V981L	probably benign	Het
Cxcr6	G	A	9: 123,639,287 (GRCm39)	W103*	probably null	Het
Dld	A	T	12: 31,385,525 (GRCm39)	F272Y	probably damaging	Het
Dmrt2	T	A	19: 25,650,950 (GRCm39)	D45E	probably benign	Het
Eif2a	T	A	3: 58,433,502 (GRCm39)	L8*	probably null	Het
Epg5	G	T	18: 78,026,747 (GRCm39)	R1246L	possibly damaging	Het
Ets1	T	A	9: 32,664,153 (GRCm39)	C350*	probably null	Het
Fam135b	C	T	15: 71,350,105 (GRCm39)	R345Q	probably damaging	Het
Fbn2	C	T	18: 58,229,122 (GRCm39)	R696H	probably damaging	Het
Gbf1	C	A	19: 46,271,797 (GRCm39)	Y159*	probably null	Het
Gcsam	T	C	16: 45,437,301 (GRCm39)		probably null	Het
Gmpr2	G	T	14: 55,910,259 (GRCm39)		probably null	Het
H2-T3	C	A	17: 36,498,275 (GRCm39)	V257L	not run	Het
Hadha	A	G	5: 30,331,610 (GRCm39)	F449L	possibly damaging	Het
Haus3	T	A	5: 34,323,477 (GRCm39)	I378L	probably benign	Het
Hdac7	T	A	15: 97,706,392 (GRCm39)	H272L	probably benign	Het
Icam5	T	C	9: 20,948,889 (GRCm39)	V747A	probably damaging	Het
Ifrd2	G	A	9: 107,467,370 (GRCm39)	V81M	possibly damaging	Het
Insyn2a	G	T	7: 134,519,738 (GRCm39)	A264D	probably benign	Het
Ipcef1	G	T	10: 6,840,673 (GRCm39)	C345*	probably null	Het
Ipmk	T	A	10: 71,217,124 (GRCm39)	F223I	probably damaging	Het
Itpr2	A	T	6: 146,274,706 (GRCm39)	N825K	probably benign	Het
Itprid2	A	G	2: 79,475,072 (GRCm39)	K344E	possibly damaging	Het
Kazn	G	A	4: 141,836,649 (GRCm39)	T530I		Het
Kmt2d	C	T	15: 98,737,737 (GRCm39)	V5120M	unknown	Het
Krt6b	T	G	15: 101,587,449 (GRCm39)	D215A	probably benign	Het
Lgals12	T	C	19: 7,581,335 (GRCm39)	K124R	probably damaging	Het
Lpar6	T	A	14: 73,476,240 (GRCm39)	V67D	probably damaging	Het
Lrch3	T	C	16: 32,818,883 (GRCm39)	Y661H	probably damaging	Het
Lrrc32	A	T	7: 98,149,201 (GRCm39)	Q660H	probably benign	Het
Lurap1l	T	A	4: 80,871,991 (GRCm39)	H161Q	probably benign	Het
Map3k19	A	G	1: 127,766,189 (GRCm39)	I245T	probably damaging	Het
Mcf2l	T	A	8: 13,069,022 (GRCm39)	*1119K	probably null	Het
Mertk	C	A	2: 128,571,313 (GRCm39)	A89E	possibly damaging	Het
Mical3	A	T	6: 121,011,074 (GRCm39)	Y375N	probably damaging	Het
Myo15a	T	A	11: 60,374,309 (GRCm39)	D121E		Het
N4bp2l1	T	A	5: 150,499,758 (GRCm39)	N116I	probably damaging	Het
Nbeal1	T	C	1: 60,233,756 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,289,977 (GRCm39)	D178E	probably benign	Het
Nt5c2	C	A	19: 46,878,328 (GRCm39)	G444C	probably damaging	Het
Or10g7	T	A	9: 39,905,349 (GRCm39)	M81K	possibly damaging	Het
Or2f1b	T	A	6: 42,739,762 (GRCm39)	Y259N	probably damaging	Het
Or8b48	T	C	9: 38,492,764 (GRCm39)	F64L	probably benign	Het
Pdcl2	A	C	5: 76,460,359 (GRCm39)	S220A	possibly damaging	Het
Pip5kl1	T	C	2: 32,468,247 (GRCm39)	S138P	possibly damaging	Het
Pkd1l1	A	T	11: 8,866,267 (GRCm39)	N979K		Het
Prkcb	A	T	7: 122,167,450 (GRCm39)	T387S	possibly damaging	Het
Pxdc1	A	G	13: 34,821,135 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 109,913,271 (GRCm39)	E1668K	possibly damaging	Het
Sec16a	T	G	2: 26,313,643 (GRCm39)	T455P		Het
Sec24b	C	A	3: 129,803,514 (GRCm39)	V412F	probably benign	Het
Serpina3b	A	G	12: 104,099,145 (GRCm39)	N220S	probably benign	Het
Sgip1	C	T	4: 102,824,821 (GRCm39)	Q581*	probably null	Het
Shf	A	T	2: 122,190,063 (GRCm39)	I175N	possibly damaging	Het
Slc16a10	G	A	10: 40,017,992 (GRCm39)	T14M	probably benign	Het
Slc22a4	A	T	11: 53,888,254 (GRCm39)	M258K	probably benign	Het
Slfn8	A	T	11: 82,907,618 (GRCm39)	Y308*	probably null	Het
Slfnl1	T	C	4: 120,392,451 (GRCm39)	Y249H	probably damaging	Het
Smchd1	T	C	17: 71,782,074 (GRCm39)	Y29C	probably damaging	Het
Snai1	C	A	2: 167,380,588 (GRCm39)		probably null	Het
Sntg1	T	C	1: 8,518,289 (GRCm39)	Y368C	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spop	G	A	11: 95,365,334 (GRCm39)	V126M	probably damaging	Het
Taar3	A	T	10: 23,825,715 (GRCm39)	Y87F	probably damaging	Het
Tarm1	C	A	7: 3,545,318 (GRCm39)	M177I	probably benign	Het
Tcerg1l	A	G	7: 137,819,786 (GRCm39)	F485L	probably damaging	Het
Thsd7b	A	T	1: 129,556,717 (GRCm39)	I435F	probably damaging	Het
Tiam2	A	G	17: 3,464,388 (GRCm39)	D39G	possibly damaging	Het
Tigd4	T	C	3: 84,501,128 (GRCm39)	V15A	probably benign	Het
Tmem117	A	G	15: 94,612,776 (GRCm39)	D104G	probably damaging	Het
Tmem132b	T	C	5: 125,864,555 (GRCm39)	L887P	probably damaging	Het
Tnfrsf26	A	T	7: 143,168,642 (GRCm39)	V132D	probably damaging	Het
Tomt	T	A	7: 101,549,715 (GRCm39)	D191V	probably damaging	Het
Ttc39b	T	C	4: 83,160,459 (GRCm39)	M373V	probably damaging	Het
Ttn	G	A	2: 76,568,493 (GRCm39)	P27467S	possibly damaging	Het
Ttn	A	C	2: 76,573,130 (GRCm39)	V25921G	probably damaging	Het
Ubxn2a	A	C	12: 4,941,381 (GRCm39)	V75G	probably damaging	Het
Uchl5	A	T	1: 143,682,433 (GRCm39)	K319N	unknown	Het
Ugt2b1	T	C	5: 87,073,693 (GRCm39)	D222G	probably damaging	Het
Vmn1r213	A	G	13: 23,195,446 (GRCm39)	I10V	unknown	Het
Vps13b	T	C	15: 35,910,973 (GRCm39)	I3579T	probably damaging	Het
Xpo5	T	A	17: 46,532,295 (GRCm39)	H443Q	probably benign	Het
Zfp316	A	G	5: 143,250,407 (GRCm39)	M2T	unknown	Het
Zscan4-ps2	A	G	7: 11,251,359 (GRCm39)	T160A	possibly 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
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
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'- TTTGGAATTCTTACACCGGGG -3'
(R):5'- GACTGGACAAGCTGGGTATG -3'

Sequencing Primer
(F):5'- CCGGGGAAAGCAATAGTTCTTCC -3'
(R):5'- TGGGTATGAACTCAACCTGC -3'

Posted On

2019-10-07