Mutagenetix > Incidental Mutation

Incidental Mutation 'R0682:Tnr'

60990

Institutional Source

Beutler Lab

Gene Symbol

Tnr

Ensembl Gene

ENSMUSG00000015829

Gene Name

tenascin R

Synonyms

J1-tenascin, restrictin, janusin, TN-R

MMRRC Submission

038867-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0682 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

159351339-159759299 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 159679877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 284 (Q284*)

Ref Sequence

ENSEMBL: ENSMUSP00000141553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111669] [ENSMUST00000192069] [ENSMUST00000193325]

AlphaFold

Q8BYI9

Predicted Effect

probably null
Transcript: ENSMUST00000111669
AA Change: Q284*

SMART Domains

Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: Q284*

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 null
Transcript: ENSMUST00000192069
AA Change: Q284*

SMART Domains

Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: Q284*

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: ENSMUST00000192457

Predicted Effect

probably benign
Transcript: ENSMUST00000193325

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.5%

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	C	5: 146,121,650 (GRCm39)	H83R	probably benign	Het
Abcd3	A	C	3: 121,563,216 (GRCm39)	I471S	possibly damaging	Het
Abcg1	G	A	17: 31,330,225 (GRCm39)	V509I	probably benign	Het
Adamts9	A	T	6: 92,880,783 (GRCm39)	N497K	possibly damaging	Het
Agap2	A	G	10: 126,919,351 (GRCm39)	S479G	unknown	Het
Asic2	T	C	11: 80,777,506 (GRCm39)	I402V	possibly damaging	Het
Atp1a2	G	A	1: 172,112,164 (GRCm39)	T577I	probably benign	Het
Atraid	T	A	5: 31,209,612 (GRCm39)	I92K	probably damaging	Het
Dpp10	C	A	1: 123,832,852 (GRCm39)	A31S	probably damaging	Het
Erich6	A	T	3: 58,544,232 (GRCm39)	F118L	probably benign	Het
Galnt18	T	C	7: 111,119,222 (GRCm39)	Y418C	probably damaging	Het
Herc1	T	A	9: 66,389,263 (GRCm39)	C3927S	possibly damaging	Het
Ifit2	G	A	19: 34,551,012 (GRCm39)	R184H	probably benign	Het
Kif24	A	T	4: 41,428,620 (GRCm39)	N113K	probably benign	Het
Lrp1b	T	A	2: 41,185,653 (GRCm39)	Y1354F	probably benign	Het
Muc1	T	A	3: 89,138,439 (GRCm39)	I427N	probably damaging	Het
Muc5ac	A	G	7: 141,359,406 (GRCm39)	T1288A	possibly damaging	Het
Or7g32	C	A	9: 19,388,645 (GRCm39)	M300I	probably benign	Het
Or9i14	C	T	19: 13,792,501 (GRCm39)	C151Y	possibly damaging	Het
Pex26	T	A	6: 121,161,363 (GRCm39)	V47E	probably damaging	Het
Plekhm2	T	C	4: 141,355,436 (GRCm39)	I871V	probably damaging	Het
Rasal2	A	G	1: 157,006,779 (GRCm39)	S111P	probably damaging	Het
Rnf133	A	T	6: 23,649,569 (GRCm39)	I163N	probably damaging	Het
Rrp8	A	C	7: 105,383,218 (GRCm39)	D349E	probably damaging	Het
Sdhd	G	T	9: 50,511,905 (GRCm39)	Q38K	probably benign	Het
Ssh1	C	T	5: 114,098,718 (GRCm39)	S117N	probably damaging	Het
Tbc1d2b	A	G	9: 90,131,915 (GRCm39)	M148T	probably benign	Het
Tnni3k	A	G	3: 154,645,665 (GRCm39)	S470P	probably damaging	Het
Trim30a	A	C	7: 104,078,389 (GRCm39)	V229G	probably damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Uck2	T	C	1: 167,064,259 (GRCm39)	D90G	probably damaging	Het
Vmn1r229	A	T	17: 21,034,950 (GRCm39)	E65V	probably benign	Het
Vmn2r26	A	G	6: 124,038,129 (GRCm39)	E568G	probably damaging	Het
Whamm	A	G	7: 81,235,886 (GRCm39)	E363G	probably damaging	Het
Wrap53	A	G	11: 69,453,272 (GRCm39)	S390P	probably damaging	Het
Wrn	A	G	8: 33,757,848 (GRCm39)	S814P	probably benign	Het
Zfp329	A	G	7: 12,544,211 (GRCm39)	C438R	probably damaging	Het
Zkscan8	T	C	13: 21,710,930 (GRCm39)	Y60C	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
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
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'- AAGAACTGCTCAGAGCCCTACTGC -3'
(R):5'- ACTGGAGCTAGAACCCAGAACGTC -3'

Sequencing Primer
(F):5'- GCATTTGTGACAGTGAATACAGC -3'
(R):5'- AGAACGTCCCCCTTCCTAC -3'

Posted On

2013-07-30