Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Tnr'

698417

Institutional Source

Beutler Lab

Gene Symbol

Tnr

Ensembl Gene

ENSMUSG00000015829

Gene Name

tenascin R

Synonyms

TN-R, janusin, restrictin, J1-tenascin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

159523769-159931729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 159895047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1021 (M1021L)

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: M1021L

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

SMART Domains

Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: M1021L

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: M1021L

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

SMART Domains

Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: M1021L

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: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	probably benign	Het

Other mutations in Tnr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Tnr	APN	1	159861245	missense	probably benign	0.00
IGL00905:Tnr	APN	1	159852182	missense	probably benign	0.06
IGL01396:Tnr	APN	1	159897024	missense	possibly damaging	0.91
IGL01550:Tnr	APN	1	159874258	missense	probably benign
IGL01803:Tnr	APN	1	159868243	missense	probably damaging	1.00
IGL01845:Tnr	APN	1	159868006	unclassified	probably benign
IGL01983:Tnr	APN	1	159863779	missense	probably benign	0.00
IGL01985:Tnr	APN	1	159919037	missense	possibly damaging	0.70
IGL02210:Tnr	APN	1	159852101	missense	probably benign	0.44
IGL02486:Tnr	APN	1	159852094	splice site	probably null
IGL03210:Tnr	APN	1	159888310	missense	probably benign	0.00
Assiduous	UTSW	1	159892023	missense	probably benign
Grip	UTSW	1	159886110	missense	possibly damaging	0.68
Persistent	UTSW	1	159852286	missense	probably benign
Tenacious	UTSW	1	159874200	missense	probably damaging	1.00
R0002:Tnr	UTSW	1	159874200	missense	probably damaging	1.00
R0002:Tnr	UTSW	1	159874200	missense	probably damaging	1.00
R0009:Tnr	UTSW	1	159852416	missense	probably damaging	1.00
R0042:Tnr	UTSW	1	159887025	missense	probably benign	0.01
R0594:Tnr	UTSW	1	159850335	missense	probably benign
R0617:Tnr	UTSW	1	159868103	missense	probably damaging	1.00
R0637:Tnr	UTSW	1	159850335	missense	possibly damaging	0.60
R0682:Tnr	UTSW	1	159852307	nonsense	probably null
R1171:Tnr	UTSW	1	159858210	missense	probably damaging	0.97
R1185:Tnr	UTSW	1	159852286	missense	probably benign
R1185:Tnr	UTSW	1	159852286	missense	probably benign
R1185:Tnr	UTSW	1	159852286	missense	probably benign
R1335:Tnr	UTSW	1	159868030	missense	probably benign	0.18
R1540:Tnr	UTSW	1	159850105	missense	probably damaging	0.99
R1697:Tnr	UTSW	1	159852030	missense	probably benign	0.00
R1938:Tnr	UTSW	1	159895037	nonsense	probably null
R1941:Tnr	UTSW	1	159850134	missense	possibly damaging	0.92
R2021:Tnr	UTSW	1	159852022	missense	probably benign
R2022:Tnr	UTSW	1	159852022	missense	probably benign
R2051:Tnr	UTSW	1	159892033	missense	probably benign
R2157:Tnr	UTSW	1	159858270	missense	probably damaging	0.98
R2319:Tnr	UTSW	1	159850048	start codon destroyed	probably null	1.00
R2936:Tnr	UTSW	1	159888362	missense	probably damaging	0.96
R3015:Tnr	UTSW	1	159888259	missense	probably benign	0.00
R3417:Tnr	UTSW	1	159895042	missense	probably benign	0.00
R3739:Tnr	UTSW	1	159923413	missense	possibly damaging	0.78
R3977:Tnr	UTSW	1	159892023	missense	probably benign
R4232:Tnr	UTSW	1	159886215	missense	possibly damaging	0.55
R4478:Tnr	UTSW	1	159884756	splice site	probably null
R4774:Tnr	UTSW	1	159897066	missense	probably damaging	1.00
R4829:Tnr	UTSW	1	159858404	missense	probably benign	0.24
R4837:Tnr	UTSW	1	159684788	intron	probably benign
R5111:Tnr	UTSW	1	159886228	missense	probably benign	0.04
R5224:Tnr	UTSW	1	159923315	missense	probably damaging	1.00
R5249:Tnr	UTSW	1	159684656	intron	probably benign
R5730:Tnr	UTSW	1	159888322	missense	probably benign	0.02
R5807:Tnr	UTSW	1	159886930	missense	possibly damaging	0.95
R5832:Tnr	UTSW	1	159886122	missense	probably benign	0.15
R5927:Tnr	UTSW	1	159912766	missense	probably damaging	1.00
R6049:Tnr	UTSW	1	159912754	missense	probably damaging	1.00
R6056:Tnr	UTSW	1	159886909	missense	probably damaging	0.99
R6063:Tnr	UTSW	1	159912684	missense	probably benign	0.00
R6141:Tnr	UTSW	1	159887122	missense	probably benign
R6218:Tnr	UTSW	1	159888314	missense	possibly damaging	0.94
R6275:Tnr	UTSW	1	159861270	missense	probably damaging	0.99
R6543:Tnr	UTSW	1	159924107	missense	probably damaging	1.00
R6626:Tnr	UTSW	1	159850252	missense	probably damaging	1.00
R7378:Tnr	UTSW	1	159884862	critical splice donor site	probably null
R7587:Tnr	UTSW	1	159886208	missense	probably benign	0.27
R7766:Tnr	UTSW	1	159888310	missense	probably benign	0.00
R8140:Tnr	UTSW	1	159863695	missense	probably damaging	0.99
R8215:Tnr	UTSW	1	159888290	missense	possibly damaging	0.91
R8248:Tnr	UTSW	1	159892093	missense	probably damaging	0.98
R8374:Tnr	UTSW	1	159858383	missense	probably benign	0.24
R8427:Tnr	UTSW	1	159886231	missense	possibly damaging	0.67
R8465:Tnr	UTSW	1	159886075	missense	probably benign	0.01
R8534:Tnr	UTSW	1	159919015	missense	probably benign	0.18
R8753:Tnr	UTSW	1	159850366	missense	probably benign	0.28
R8804:Tnr	UTSW	1	159858312	missense	probably benign
R8857:Tnr	UTSW	1	159886158	missense	probably benign	0.10
R8917:Tnr	UTSW	1	159874122	nonsense	probably null
R8930:Tnr	UTSW	1	159912789	missense	probably damaging	1.00
R8932:Tnr	UTSW	1	159912789	missense	probably damaging	1.00
R8940:Tnr	UTSW	1	159858297	missense	probably damaging	1.00
R9096:Tnr	UTSW	1	159850234	missense	probably benign	0.10
R9127:Tnr	UTSW	1	159886110	missense	possibly damaging	0.68
R9311:Tnr	UTSW	1	159850093	missense	probably benign	0.30
R9679:Tnr	UTSW	1	159892038	missense	probably benign	0.08
X0011:Tnr	UTSW	1	159889338	missense	probably benign	0.02
X0028:Tnr	UTSW	1	159874114	missense	probably damaging	1.00
Z1088:Tnr	UTSW	1	159895095	missense	probably benign	0.29
Z1177:Tnr	UTSW	1	159852091	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGGATCCTTGTGTAGAGCCATC -3'
(R):5'- AGATACAGGGACCACATTCAGC -3'

Sequencing Primer
(F):5'- GCCATCAGCTGCATCATCTGTAG -3'
(R):5'- TTCAGCCAAAACATGCTCAGATC -3'

Posted On

2022-02-07