Mutagenetix > Incidental Mutation

Incidental Mutation 'R3977:Tnr'

311054

Institutional Source

Beutler Lab

Gene Symbol

Tnr

Ensembl Gene

ENSMUSG00000015829

Gene Name

tenascin R

Synonyms

J1-tenascin, restrictin, janusin, TN-R

MMRRC Submission

040940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

159351339-159759299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 159719593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 957 (M957V)

Ref Sequence

ENSEMBL: ENSMUSP00000141553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111669] [ENSMUST00000192069]

AlphaFold

Q8BYI9

Predicted Effect

probably benign
Transcript: ENSMUST00000111669
AA Change: M957V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: M957V

Domain	Start	End	E-Value	Type
EGF_like	203	231	3.87e1	SMART
EGF_like	234	262	3.16e1	SMART
EGF_like	265	293	2.8e1	SMART
EGF	296	324	2.43e1	SMART
FN3	326	404	4.77e-8	SMART
FN3	415	493	3.1e-7	SMART
FN3	504	583	2.01e-6	SMART
FN3	594	675	1.98e-5	SMART
FN3	686	763	3.29e-11	SMART
FN3	774	851	3.32e-7	SMART
FN3	864	942	3.73e-10	SMART
FN3	953	1031	2.28e-5	SMART
FN3	1041	1118	8.56e-10	SMART
FBG	1133	1343	2.69e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192069
AA Change: M957V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: M957V

Domain	Start	End	E-Value	Type
EGF_like	203	231	3.87e1	SMART
EGF_like	234	262	3.16e1	SMART
EGF_like	265	293	2.8e1	SMART
EGF	296	324	2.43e1	SMART
FN3	326	404	4.77e-8	SMART
FN3	415	493	3.1e-7	SMART
FN3	504	583	2.01e-6	SMART
FN3	594	675	1.98e-5	SMART
FN3	686	763	3.29e-11	SMART
FN3	774	851	3.32e-7	SMART
FN3	864	942	3.73e-10	SMART
FN3	953	1031	2.28e-5	SMART
FN3	1041	1118	8.56e-10	SMART
FBG	1133	1343	2.69e-133	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (50/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]
PHENOTYPE: In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,872,664 (GRCm39)	P942L	possibly damaging	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Brpf3	A	G	17: 29,026,016 (GRCm39)	E363G	possibly damaging	Het
Ccdc96	T	C	5: 36,642,510 (GRCm39)	L172P	possibly damaging	Het
Cln3	G	A	7: 126,179,308 (GRCm39)		probably benign	Het
Dnah7c	T	C	1: 46,668,071 (GRCm39)	I1526T	possibly damaging	Het
Entr1	T	A	2: 26,274,805 (GRCm39)	N364I	probably damaging	Het
Fmo3	T	G	1: 162,786,147 (GRCm39)	E281A	probably damaging	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gbp2b	A	G	3: 142,309,470 (GRCm39)	I194V	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hk1	A	G	10: 62,126,098 (GRCm39)	V396A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il19	A	T	1: 130,863,770 (GRCm39)	C74S	probably damaging	Het
Krt1c	T	C	15: 101,719,562 (GRCm39)	T703A	unknown	Het
Lrig2	A	T	3: 104,365,160 (GRCm39)	V664E	probably damaging	Het
Lrrc37a	T	C	11: 103,348,430 (GRCm39)	K2755R	unknown	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mbtd1	A	G	11: 93,796,001 (GRCm39)	N13D	probably benign	Het
Mfsd4b5	T	C	10: 39,850,704 (GRCm39)		probably benign	Het
Nras	A	G	3: 102,967,541 (GRCm39)	I46V	probably benign	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Ogfod2	C	A	5: 124,251,272 (GRCm39)		probably null	Het
Or10q3	C	A	19: 11,847,869 (GRCm39)	R237L	possibly damaging	Het
Or10v1	T	A	19: 11,873,880 (GRCm39)	F165Y	probably damaging	Het
Or11a4	T	C	17: 37,536,049 (GRCm39)	V11A	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4c3	C	A	2: 89,852,089 (GRCm39)	G107V	probably damaging	Het
Or6c5	C	T	10: 129,074,377 (GRCm39)	R120C	probably damaging	Het
Pkmyt1	A	G	17: 23,954,305 (GRCm39)	M362V	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1r12b	A	G	1: 134,693,713 (GRCm39)	S983P	probably benign	Het
Ptpn22	A	G	3: 103,780,957 (GRCm39)		probably benign	Het
Raph1	A	T	1: 60,537,682 (GRCm39)	D491E	probably benign	Het
Rc3h1	A	G	1: 160,786,969 (GRCm39)		probably null	Het
Rtn4	T	C	11: 29,643,819 (GRCm39)	L5P	probably benign	Het
Slc23a4	C	T	6: 34,930,723 (GRCm39)	V400I	probably benign	Het
Slco1a5	A	G	6: 142,204,698 (GRCm39)		probably benign	Het
Smpd1	T	C	7: 105,205,108 (GRCm39)	F329S	probably benign	Het
Sycp2l	A	G	13: 41,295,440 (GRCm39)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Ten1	G	A	11: 116,107,771 (GRCm39)		probably null	Het
Tfap2d	C	G	1: 19,174,718 (GRCm39)	S57C	possibly damaging	Het
Trbv13-3	A	G	6: 41,107,079 (GRCm39)		probably benign	Het
Trp53rkb	C	T	2: 166,637,446 (GRCm39)	A134V	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r74	T	C	7: 85,607,345 (GRCm39)	Y126C	probably benign	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	Het

Other mutations in Tnr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Tnr	APN	1	159,688,815 (GRCm39)	missense	probably benign	0.00
IGL00905:Tnr	APN	1	159,679,752 (GRCm39)	missense	probably benign	0.06
IGL01396:Tnr	APN	1	159,724,594 (GRCm39)	missense	possibly damaging	0.91
IGL01550:Tnr	APN	1	159,701,828 (GRCm39)	missense	probably benign
IGL01803:Tnr	APN	1	159,695,813 (GRCm39)	missense	probably damaging	1.00
IGL01845:Tnr	APN	1	159,695,576 (GRCm39)	unclassified	probably benign
IGL01983:Tnr	APN	1	159,691,349 (GRCm39)	missense	probably benign	0.00
IGL01985:Tnr	APN	1	159,746,607 (GRCm39)	missense	possibly damaging	0.70
IGL02210:Tnr	APN	1	159,679,671 (GRCm39)	missense	probably benign	0.44
IGL02486:Tnr	APN	1	159,679,664 (GRCm39)	splice site	probably null
IGL03210:Tnr	APN	1	159,715,880 (GRCm39)	missense	probably benign	0.00
Assiduous	UTSW	1	159,719,593 (GRCm39)	missense	probably benign
Grip	UTSW	1	159,713,680 (GRCm39)	missense	possibly damaging	0.68
Persistent	UTSW	1	159,679,856 (GRCm39)	missense	probably benign
Tenacious	UTSW	1	159,701,770 (GRCm39)	missense	probably damaging	1.00
R0002:Tnr	UTSW	1	159,701,770 (GRCm39)	missense	probably damaging	1.00
R0002:Tnr	UTSW	1	159,701,770 (GRCm39)	missense	probably damaging	1.00
R0009:Tnr	UTSW	1	159,679,986 (GRCm39)	missense	probably damaging	1.00
R0042:Tnr	UTSW	1	159,714,595 (GRCm39)	missense	probably benign	0.01
R0594:Tnr	UTSW	1	159,677,905 (GRCm39)	missense	probably benign
R0617:Tnr	UTSW	1	159,695,673 (GRCm39)	missense	probably damaging	1.00
R0637:Tnr	UTSW	1	159,677,905 (GRCm39)	missense	possibly damaging	0.60
R0682:Tnr	UTSW	1	159,679,877 (GRCm39)	nonsense	probably null
R1171:Tnr	UTSW	1	159,685,780 (GRCm39)	missense	probably damaging	0.97
R1185:Tnr	UTSW	1	159,679,856 (GRCm39)	missense	probably benign
R1185:Tnr	UTSW	1	159,679,856 (GRCm39)	missense	probably benign
R1185:Tnr	UTSW	1	159,679,856 (GRCm39)	missense	probably benign
R1335:Tnr	UTSW	1	159,695,600 (GRCm39)	missense	probably benign	0.18
R1540:Tnr	UTSW	1	159,677,675 (GRCm39)	missense	probably damaging	0.99
R1697:Tnr	UTSW	1	159,679,600 (GRCm39)	missense	probably benign	0.00
R1938:Tnr	UTSW	1	159,722,607 (GRCm39)	nonsense	probably null
R1941:Tnr	UTSW	1	159,677,704 (GRCm39)	missense	possibly damaging	0.92
R2021:Tnr	UTSW	1	159,679,592 (GRCm39)	missense	probably benign
R2022:Tnr	UTSW	1	159,679,592 (GRCm39)	missense	probably benign
R2051:Tnr	UTSW	1	159,719,603 (GRCm39)	missense	probably benign
R2157:Tnr	UTSW	1	159,685,840 (GRCm39)	missense	probably damaging	0.98
R2319:Tnr	UTSW	1	159,677,618 (GRCm39)	start codon destroyed	probably null	1.00
R2936:Tnr	UTSW	1	159,715,932 (GRCm39)	missense	probably damaging	0.96
R3015:Tnr	UTSW	1	159,715,829 (GRCm39)	missense	probably benign	0.00
R3417:Tnr	UTSW	1	159,722,612 (GRCm39)	missense	probably benign	0.00
R3739:Tnr	UTSW	1	159,750,983 (GRCm39)	missense	possibly damaging	0.78
R4232:Tnr	UTSW	1	159,713,785 (GRCm39)	missense	possibly damaging	0.55
R4478:Tnr	UTSW	1	159,712,326 (GRCm39)	splice site	probably null
R4774:Tnr	UTSW	1	159,724,636 (GRCm39)	missense	probably damaging	1.00
R4829:Tnr	UTSW	1	159,685,974 (GRCm39)	missense	probably benign	0.24
R4837:Tnr	UTSW	1	159,512,358 (GRCm39)	intron	probably benign
R5111:Tnr	UTSW	1	159,713,798 (GRCm39)	missense	probably benign	0.04
R5224:Tnr	UTSW	1	159,750,885 (GRCm39)	missense	probably damaging	1.00
R5249:Tnr	UTSW	1	159,512,226 (GRCm39)	intron	probably benign
R5730:Tnr	UTSW	1	159,715,892 (GRCm39)	missense	probably benign	0.02
R5807:Tnr	UTSW	1	159,714,500 (GRCm39)	missense	possibly damaging	0.95
R5832:Tnr	UTSW	1	159,713,692 (GRCm39)	missense	probably benign	0.15
R5927:Tnr	UTSW	1	159,740,336 (GRCm39)	missense	probably damaging	1.00
R6049:Tnr	UTSW	1	159,740,324 (GRCm39)	missense	probably damaging	1.00
R6056:Tnr	UTSW	1	159,714,479 (GRCm39)	missense	probably damaging	0.99
R6063:Tnr	UTSW	1	159,740,254 (GRCm39)	missense	probably benign	0.00
R6141:Tnr	UTSW	1	159,714,692 (GRCm39)	missense	probably benign
R6218:Tnr	UTSW	1	159,715,884 (GRCm39)	missense	possibly damaging	0.94
R6275:Tnr	UTSW	1	159,688,840 (GRCm39)	missense	probably damaging	0.99
R6543:Tnr	UTSW	1	159,751,677 (GRCm39)	missense	probably damaging	1.00
R6626:Tnr	UTSW	1	159,677,822 (GRCm39)	missense	probably damaging	1.00
R7378:Tnr	UTSW	1	159,712,432 (GRCm39)	critical splice donor site	probably null
R7587:Tnr	UTSW	1	159,713,778 (GRCm39)	missense	probably benign	0.27
R7766:Tnr	UTSW	1	159,715,880 (GRCm39)	missense	probably benign	0.00
R8140:Tnr	UTSW	1	159,691,265 (GRCm39)	missense	probably damaging	0.99
R8215:Tnr	UTSW	1	159,715,860 (GRCm39)	missense	possibly damaging	0.91
R8248:Tnr	UTSW	1	159,719,663 (GRCm39)	missense	probably damaging	0.98
R8374:Tnr	UTSW	1	159,685,953 (GRCm39)	missense	probably benign	0.24
R8427:Tnr	UTSW	1	159,713,801 (GRCm39)	missense	possibly damaging	0.67
R8465:Tnr	UTSW	1	159,713,645 (GRCm39)	missense	probably benign	0.01
R8534:Tnr	UTSW	1	159,746,585 (GRCm39)	missense	probably benign	0.18
R8753:Tnr	UTSW	1	159,677,936 (GRCm39)	missense	probably benign	0.28
R8804:Tnr	UTSW	1	159,685,882 (GRCm39)	missense	probably benign
R8857:Tnr	UTSW	1	159,713,728 (GRCm39)	missense	probably benign	0.10
R8917:Tnr	UTSW	1	159,701,692 (GRCm39)	nonsense	probably null
R8930:Tnr	UTSW	1	159,740,359 (GRCm39)	missense	probably damaging	1.00
R8932:Tnr	UTSW	1	159,740,359 (GRCm39)	missense	probably damaging	1.00
R8940:Tnr	UTSW	1	159,685,867 (GRCm39)	missense	probably damaging	1.00
R9096:Tnr	UTSW	1	159,677,804 (GRCm39)	missense	probably benign	0.10
R9127:Tnr	UTSW	1	159,713,680 (GRCm39)	missense	possibly damaging	0.68
R9205:Tnr	UTSW	1	159,722,617 (GRCm39)	missense	probably benign
R9311:Tnr	UTSW	1	159,677,663 (GRCm39)	missense	probably benign	0.30
R9679:Tnr	UTSW	1	159,719,608 (GRCm39)	missense	probably benign	0.08
X0011:Tnr	UTSW	1	159,716,908 (GRCm39)	missense	probably benign	0.02
X0028:Tnr	UTSW	1	159,701,684 (GRCm39)	missense	probably damaging	1.00
Z1088:Tnr	UTSW	1	159,722,665 (GRCm39)	missense	probably benign	0.29
Z1177:Tnr	UTSW	1	159,679,661 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTATCAGTGGAGCCAGAC -3'
(R):5'- CTGCATAATTTCTCCAACTTGAGG -3'

Sequencing Primer
(F):5'- CAGGTAGAAAAAGAATCAGTCTCC -3'
(R):5'- TTTCTCCAACTTGAGGTAATTTCTG -3'

Posted On

2015-04-29