Mutagenetix > Incidental Mutation

Incidental Mutation 'R5832:Tnr'

449341

Institutional Source

Beutler Lab

Gene Symbol

Tnr

Ensembl Gene

ENSMUSG00000015829

Gene Name

tenascin R

Synonyms

J1-tenascin, restrictin, janusin, TN-R

MMRRC Submission

044054-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5832 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

159351339-159759299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 159713692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 707 (T707A)

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: T707A

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: T707A

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: T707A

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: T707A

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adgrv1	G	A	13: 81,251,421 (GRCm39)	S6232F	possibly damaging	Het
Alox12	T	C	11: 70,144,106 (GRCm39)	E129G	probably damaging	Het
Anxa13	C	A	15: 58,205,389 (GRCm39)		noncoding transcript	Het
Arfgef3	C	T	10: 18,506,168 (GRCm39)	G878D	probably damaging	Het
Asnsd1	T	C	1: 53,386,634 (GRCm39)	D331G	probably damaging	Het
Crisp1	A	G	17: 40,612,208 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,842,447 (GRCm39)	N217S	probably benign	Het
Fat1	A	T	8: 45,470,460 (GRCm39)	Y1463F	possibly damaging	Het
Fhod3	T	C	18: 25,223,752 (GRCm39)	W1033R	probably damaging	Het
Galr2	T	A	11: 116,172,457 (GRCm39)	L49Q	probably damaging	Het
Gstm5	T	C	3: 107,804,853 (GRCm39)	V115A	probably benign	Het
Gtpbp2	C	T	17: 46,478,788 (GRCm39)	T535I	probably damaging	Het
Hk1	T	C	10: 62,128,144 (GRCm39)	E326G	probably benign	Het
Igfn1	A	G	1: 135,902,533 (GRCm39)	V388A	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Kitl	C	A	10: 99,915,882 (GRCm39)	P137H	probably damaging	Het
Lamp3	A	T	16: 19,520,070 (GRCm39)	Y38N	probably damaging	Het
Lmo7	A	T	14: 102,121,649 (GRCm39)	N5I	probably damaging	Het
Mc3r	T	A	2: 172,091,350 (GRCm39)	C191S	probably benign	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mybpc3	A	G	2: 90,949,520 (GRCm39)		probably null	Het
Nav2	A	T	7: 49,197,817 (GRCm39)		probably null	Het
Patz1	C	T	11: 3,256,277 (GRCm39)	P521L	probably benign	Het
Pramel14	A	G	4: 143,718,532 (GRCm39)	S304P	probably damaging	Het
Prkcd	T	C	14: 30,327,778 (GRCm39)	T103A	probably damaging	Het
Pttg1ip	T	C	10: 77,419,859 (GRCm39)		probably null	Het
Rcbtb2	C	A	14: 73,404,262 (GRCm39)	Q85K	possibly damaging	Het
Rdh16f1	T	A	10: 127,624,618 (GRCm39)	V152E	probably damaging	Het
Rsph4a	A	G	10: 33,785,498 (GRCm39)	I470V	probably benign	Het
Sarnp	T	C	10: 128,684,181 (GRCm39)		probably null	Het
Slc39a6	C	A	18: 24,734,669 (GRCm39)	V7L	possibly damaging	Het
Slco1a4	A	G	6: 141,765,270 (GRCm39)	I324T	probably benign	Het
Spata31d1a	A	T	13: 59,849,380 (GRCm39)	V916E	probably damaging	Het
Srgap1	T	G	10: 121,676,819 (GRCm39)	T392P	probably damaging	Het
Tbc1d20	A	T	2: 152,153,282 (GRCm39)	M271L	possibly damaging	Het
Tbc1d22b	T	C	17: 29,789,621 (GRCm39)	I161T	possibly damaging	Het
Tcof1	G	T	18: 60,952,611 (GRCm39)	N918K	unknown	Het
Trim66	A	G	7: 109,054,409 (GRCm39)	F1267S	probably damaging	Het
Trpm6	A	G	19: 18,764,183 (GRCm39)	H263R	possibly damaging	Het
Tshz2	T	A	2: 169,725,965 (GRCm39)	V187D	possibly damaging	Het
Ube2f	T	G	1: 91,213,046 (GRCm39)	V176G	possibly damaging	Het
Vmn2r109	C	T	17: 20,761,318 (GRCm39)	A680T	probably benign	Het
Vmn2r77	T	A	7: 86,460,670 (GRCm39)	C665*	probably null	Het
Zfp954	A	G	7: 7,118,389 (GRCm39)	V385A	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
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
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'- GTCAGTGTGAAATAGGCCAATTG -3'
(R):5'- TGAAGGCATCCACAGTAGACTC -3'

Sequencing Primer
(F):5'- GCCTGTAATCTCACACTTAGGAGG -3'
(R):5'- ACAGTAGACTCCAGGCTCTG -3'

Posted On

2016-12-20