Mutagenetix > Incidental Mutation

Incidental Mutation 'R8534:Tnr'

659134

Institutional Source

Beutler Lab

Gene Symbol

Tnr

Ensembl Gene

ENSMUSG00000015829

Gene Name

tenascin R

Synonyms

J1-tenascin, restrictin, janusin, TN-R

MMRRC Submission

068503-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8534 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

159351339-159759299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 159746585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1235 (E1235K)

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: E1235K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: E1235K

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: E1235K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: E1235K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	C	2: 19,545,153 (GRCm39)	L100R	probably damaging	Het
6820408C15Rik	A	G	2: 152,283,182 (GRCm39)	D282G	probably damaging	Het
Abcb11	G	T	2: 69,154,190 (GRCm39)	N125K	possibly damaging	Het
Acbd7	A	T	2: 3,341,750 (GRCm39)	D71V	probably damaging	Het
Adgrb1	A	T	15: 74,415,357 (GRCm39)	T646S	probably damaging	Het
Adgrv1	A	G	13: 81,534,887 (GRCm39)	Y5793H	probably benign	Het
Agmo	A	G	12: 37,302,538 (GRCm39)	D125G	probably damaging	Het
Ahrr	A	G	13: 74,368,799 (GRCm39)	S125P	probably damaging	Het
B020011L13Rik	C	A	1: 117,729,034 (GRCm39)	H180Q	probably benign	Het
Cbfa2t3	T	C	8: 123,365,653 (GRCm39)	D219G	probably damaging	Het
Ccdc187	A	G	2: 26,165,577 (GRCm39)	S860P	possibly damaging	Het
Ceacam5	A	T	7: 17,484,671 (GRCm39)	Q471L	probably benign	Het
Cyp2c54	A	C	19: 40,036,030 (GRCm39)	D293E	probably damaging	Het
Dnah1	G	T	14: 31,023,805 (GRCm39)	N962K	probably benign	Het
Dst	C	T	1: 34,229,388 (GRCm39)	T2002I	probably benign	Het
Elavl1	A	T	8: 4,339,864 (GRCm39)	N239K	probably benign	Het
Elmod3	A	G	6: 72,543,667 (GRCm39)	F375L	probably benign	Het
G6pc2	T	A	2: 69,050,469 (GRCm39)	N31K	probably benign	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gm6569	G	T	15: 73,711,673 (GRCm39)		probably benign	Het
Insig1	C	T	5: 28,280,116 (GRCm39)	S236L	probably damaging	Het
Itih4	A	T	14: 30,622,979 (GRCm39)	N882I	probably benign	Het
Kmt5a	C	A	5: 124,598,635 (GRCm39)	D309E	probably benign	Het
Kndc1	C	A	7: 139,503,669 (GRCm39)	T991N	probably benign	Het
Lingo1	T	A	9: 56,528,353 (GRCm39)	T79S	probably benign	Het
Myh4	A	T	11: 67,134,335 (GRCm39)	E330V	probably benign	Het
Nlrx1	A	G	9: 44,174,070 (GRCm39)	V377A	probably benign	Het
Npy5r	C	A	8: 67,134,688 (GRCm39)	G35V	probably benign	Het
Or5b102	T	A	19: 13,041,432 (GRCm39)	I219N	probably damaging	Het
Or7g33	C	T	9: 19,448,605 (GRCm39)	G207D	possibly damaging	Het
Pabpn1l	T	C	8: 123,349,358 (GRCm39)	T20A	probably benign	Het
Pcf11	A	G	7: 92,302,432 (GRCm39)	V1226A	probably benign	Het
Per2	G	A	1: 91,351,659 (GRCm39)	T949M	probably benign	Het
Phc1	G	A	6: 122,315,539 (GRCm39)		probably benign	Het
Pias2	A	G	18: 77,185,083 (GRCm39)	I55V	possibly damaging	Het
Pik3r2	A	T	8: 71,227,312 (GRCm39)	S104T	probably benign	Het
Pip	T	C	6: 41,828,421 (GRCm39)	V85A	probably benign	Het
Pms2	T	C	5: 143,860,445 (GRCm39)	V86A	probably benign	Het
Potefam1	G	A	2: 111,058,380 (GRCm39)	P138S	possibly damaging	Het
Rab44	A	G	17: 29,363,547 (GRCm39)		probably null	Het
Rrbp1	A	G	2: 143,830,095 (GRCm39)	S691P	probably damaging	Het
Ruvbl2	A	T	7: 45,079,118 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,826,542 (GRCm39)	D1357G	possibly damaging	Het
Slc12a6	T	A	2: 112,174,312 (GRCm39)	I476N	probably damaging	Het
Slc1a1	C	T	19: 28,882,746 (GRCm39)	P337S	probably damaging	Het
Slc35b3	T	A	13: 39,128,566 (GRCm39)	T174S	probably benign	Het
Slc4a4	A	T	5: 89,283,581 (GRCm39)	I467F	probably damaging	Het
Slc50a1	G	A	3: 89,177,710 (GRCm39)		probably null	Het
Spink14	G	A	18: 44,164,079 (GRCm39)		probably null	Het
Spmap2l	T	A	5: 77,207,325 (GRCm39)	I361N	probably damaging	Het
Tmem59	T	C	4: 107,043,082 (GRCm39)		probably null	Het
Trpm6	A	T	19: 18,869,459 (GRCm39)	R2015S	probably benign	Het
Tsnaxip1	A	G	8: 106,565,370 (GRCm39)	E132G	probably damaging	Het
Vps54	A	G	11: 21,227,706 (GRCm39)	N93S	probably benign	Het
Wdr17	T	G	8: 55,101,265 (GRCm39)	I994L	probably benign	Het
Zfat	G	T	15: 68,037,696 (GRCm39)	H926Q	probably damaging	Het
Zfp2	C	T	11: 50,791,627 (GRCm39)	E139K	possibly 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
R3977:Tnr	UTSW	1	159,719,593 (GRCm39)	missense	probably benign
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
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'- CAGTCTGGCAGGTTTGACAC -3'
(R):5'- CACGAACTCGGTGAATTCTGC -3'

Sequencing Primer
(F):5'- GGTTTGACACCAGCCCAAG -3'
(R):5'- AACTCGGTGAATTCTGCTGGTTC -3'

Posted On

2021-01-18