Mutagenetix > Incidental Mutations

Incidental Mutation 'R5061:Tln2'

386624

Institutional Source

Beutler Lab

Gene Symbol

Tln2

Ensembl Gene

ENSMUSG00000052698

Gene Name

talin 2

Synonyms

MMRRC Submission

042651-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R5061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67217087-67559703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 67354468 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 663 (N663T)

Ref Sequence

ENSEMBL: ENSMUSP00000148901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039662] [ENSMUST00000040025] [ENSMUST00000215784]

Predicted Effect

probably benign
Transcript: ENSMUST00000039662
AA Change: N661T

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

SMART Domains

Protein: ENSMUSP00000035272
Gene: ENSMUSG00000052698
AA Change: N661T

Domain	Start	End	E-Value	Type
B41	84	316	1.29e-66	SMART
IRS	311	404	6.31e-17	SMART
Pfam:Talin_middle	494	655	3.4e-59	PFAM
Pfam:I_LWEQ	661	765	1.9e-10	PFAM
low complexity region	770	778	N/A	INTRINSIC
PDB:2L7A\|A	797	901	3e-44	PDB
low complexity region	902	918	N/A	INTRINSIC
low complexity region	923	946	N/A	INTRINSIC
internal_repeat_4	973	1033	7.18e-6	PROSPERO
internal_repeat_3	1083	1210	3.53e-6	PROSPERO
internal_repeat_4	1138	1198	7.18e-6	PROSPERO
low complexity region	1313	1325	N/A	INTRINSIC
low complexity region	1330	1343	N/A	INTRINSIC
internal_repeat_1	1482	1554	2.88e-9	PROSPERO
internal_repeat_2	1491	1551	2.05e-7	PROSPERO
low complexity region	1679	1690	N/A	INTRINSIC
Pfam:VBS	1850	1974	2.6e-67	PFAM
internal_repeat_3	2010	2138	3.53e-6	PROSPERO
low complexity region	2309	2325	N/A	INTRINSIC
low complexity region	2349	2359	N/A	INTRINSIC
Pfam:I_LWEQ	2384	2531	2.5e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040025
AA Change: N661T

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

SMART Domains

Protein: ENSMUSP00000039633
Gene: ENSMUSG00000052698
AA Change: N661T

Domain	Start	End	E-Value	Type
B41	84	316	1.29e-66	SMART
IRS	311	404	6.31e-17	SMART
Pfam:Talin_middle	494	655	8.5e-78	PFAM
low complexity region	674	693	N/A	INTRINSIC
internal_repeat_2	703	763	2.05e-7	PROSPERO
low complexity region	770	778	N/A	INTRINSIC
PDB:2L7A\|A	797	901	3e-44	PDB
low complexity region	902	918	N/A	INTRINSIC
low complexity region	923	946	N/A	INTRINSIC
internal_repeat_4	973	1033	7.18e-6	PROSPERO
internal_repeat_3	1083	1210	3.53e-6	PROSPERO
internal_repeat_4	1138	1198	7.18e-6	PROSPERO
low complexity region	1313	1325	N/A	INTRINSIC
low complexity region	1330	1343	N/A	INTRINSIC
internal_repeat_1	1482	1554	2.88e-9	PROSPERO
internal_repeat_2	1491	1551	2.05e-7	PROSPERO
low complexity region	1679	1690	N/A	INTRINSIC
Pfam:VBS	1850	1974	9.9e-72	PFAM
internal_repeat_3	2010	2138	3.53e-6	PROSPERO
low complexity region	2309	2325	N/A	INTRINSIC
low complexity region	2349	2359	N/A	INTRINSIC
Pfam:I_LWEQ	2383	2533	4.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215784
AA Change: N663T

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

Meta Mutation Damage Score

0.0680

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal muscle morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,450,953	H53R	probably benign	Het
Abcg1	A	G	17: 31,092,392	K124E	probably damaging	Het
Acot4	G	T	12: 84,038,701	R64L	probably benign	Het
Adam22	G	C	5: 8,180,238		probably benign	Het
Add2	G	A	6: 86,087,047		probably null	Het
Adgrb3	G	A	1: 25,068,128		probably benign	Het
Akap8l	T	G	17: 32,332,894	K441T	probably damaging	Het
Aspn	T	A	13: 49,566,604	S365R	probably damaging	Het
Atxn1	T	G	13: 45,557,093	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,500,203	H135N	probably damaging	Het
Borcs8	T	G	8: 70,140,358		probably null	Het
Col5a1	G	A	2: 27,952,378	D422N	unknown	Het
Cstad	A	T	2: 30,608,263	T37S	unknown	Het
Dgkq	A	T	5: 108,654,123	D455E	probably benign	Het
Dopey1	T	C	9: 86,503,108		probably benign	Het
Ebf3	T	C	7: 137,313,559	I84V	possibly damaging	Het
Ehmt2	C	T	17: 34,899,091	R40*	probably null	Het
Eif3e	A	T	15: 43,252,261	W370R	probably damaging	Het
Eya3	T	A	4: 132,704,378	D323E	probably damaging	Het
F5	T	C	1: 164,194,180	L1408P	probably benign	Het
Gfod1	C	T	13: 43,200,516	G328S	probably benign	Het
Gja1	T	A	10: 56,387,656	L37Q	probably damaging	Het
Gm10650	T	A	3: 128,040,017		noncoding transcript	Het
Gm14226	T	A	2: 155,025,186	H354Q	probably benign	Het
Gm15056	T	C	8: 20,900,742	T60A	probably benign	Het
Gm6614	T	A	6: 142,008,688	M20L	probably benign	Het
Grrp1	T	C	4: 134,251,730	T146A	probably benign	Het
Hsd11b1	A	T	1: 193,242,245	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,880,122	I39M	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kdm7a	G	A	6: 39,151,452	P482S	possibly damaging	Het
Lama5	C	A	2: 180,198,786	E607*	probably null	Het
Lao1	T	A	4: 118,967,476	S252T	probably benign	Het
Lrp12	A	G	15: 39,878,254	F355S	probably damaging	Het
Mlycd	T	C	8: 119,410,304	F421S	probably damaging	Het
Nectin3	T	C	16: 46,448,449	E530G	probably benign	Het
Nifk	T	C	1: 118,332,939	*270R	probably null	Het
Ocln	T	C	13: 100,539,598	Y129C	probably damaging	Het
Olfr1130	C	T	2: 87,607,832	T148I	probably benign	Het
Olfr1278	T	A	2: 111,292,487	L73H	probably damaging	Het
Olfr1472	A	T	19: 13,453,985	C177*	probably null	Het
Olfr685	T	A	7: 105,180,657	I219F	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,519,126	G216C	probably damaging	Het
Ppcs	T	C	4: 119,419,215	K58E	probably damaging	Het
Prss38	T	C	11: 59,374,370	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,720,433		probably null	Het
Rbm18	A	G	2: 36,127,205	F54L	possibly damaging	Het
Rwdd3	G	A	3: 121,159,783		probably benign	Het
Ryr2	T	C	13: 11,635,536	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,713,532		probably null	Het
Serpinb10	A	G	1: 107,540,971	T115A	probably benign	Het
Slx4ip	T	G	2: 137,044,010	F83L	probably damaging	Het
St3gal1	A	T	15: 67,108,229	S274T	probably benign	Het
Stab1	A	C	14: 31,163,099	C121W	probably damaging	Het
Stab2	A	G	10: 86,907,385	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954	I77R	probably benign	Het
Tbk1	T	G	10: 121,576,336	E47A	possibly damaging	Het
Tert	C	T	13: 73,634,278	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,552,027	D252G	probably damaging	Het
Tll1	C	A	8: 64,053,949	C586F	probably damaging	Het
Tmem245	T	A	4: 56,946,945	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,320,542		probably null	Het
Unc79	T	A	12: 103,168,441	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,957,274	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,581,814	S693A	probably benign	Het
Vps54	G	A	11: 21,319,881		probably benign	Het
Znfx1	T	C	2: 167,065,398		probably benign	Het

Other mutations in Tln2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Tln2	APN	9	67344187	missense	possibly damaging	0.59
IGL01110:Tln2	APN	9	67250582	nonsense	probably null
IGL01112:Tln2	APN	9	67311811	missense	probably damaging	1.00
IGL01307:Tln2	APN	9	67395467	missense	probably benign	0.25
IGL01374:Tln2	APN	9	67261923	missense	probably damaging	1.00
IGL01625:Tln2	APN	9	67370623	missense	probably damaging	1.00
IGL01865:Tln2	APN	9	67250614	nonsense	probably null
IGL01999:Tln2	APN	9	67392505	missense	possibly damaging	0.81
IGL02002:Tln2	APN	9	67356698	missense	probably damaging	0.98
IGL02005:Tln2	APN	9	67392505	missense	possibly damaging	0.81
IGL02015:Tln2	APN	9	67361439	splice site	probably benign
IGL02368:Tln2	APN	9	67240810	splice site	probably benign
IGL02444:Tln2	APN	9	67258592	splice site	probably benign
IGL02646:Tln2	APN	9	67255996	missense	probably benign	0.43
IGL02744:Tln2	APN	9	67229376	nonsense	probably null
IGL02869:Tln2	APN	9	67221525	splice site	probably benign
IGL02930:Tln2	APN	9	67393662	nonsense	probably null
IGL03100:Tln2	APN	9	67295737	missense	probably damaging	1.00
IGL03326:Tln2	APN	9	67334257	missense	possibly damaging	0.67
R0047:Tln2	UTSW	9	67240672	splice site	probably benign
R0047:Tln2	UTSW	9	67240672	splice site	probably benign
R0107:Tln2	UTSW	9	67370706	missense	probably damaging	1.00
R0494:Tln2	UTSW	9	67355197	missense	probably benign	0.22
R0884:Tln2	UTSW	9	67370733	missense	probably damaging	1.00
R0947:Tln2	UTSW	9	67295813	missense	probably benign	0.08
R0989:Tln2	UTSW	9	67229454	missense	probably damaging	1.00
R1195:Tln2	UTSW	9	67258566	missense	probably damaging	0.96
R1195:Tln2	UTSW	9	67258566	missense	probably damaging	0.96
R1195:Tln2	UTSW	9	67258566	missense	probably damaging	0.96
R1486:Tln2	UTSW	9	67311839	missense	probably damaging	1.00
R1527:Tln2	UTSW	9	67272668	missense	possibly damaging	0.95
R1584:Tln2	UTSW	9	67296414	missense	probably damaging	1.00
R1636:Tln2	UTSW	9	67306532	missense	probably damaging	1.00
R1656:Tln2	UTSW	9	67227107	missense	possibly damaging	0.81
R1707:Tln2	UTSW	9	67375807	missense	probably benign	0.00
R1749:Tln2	UTSW	9	67286514	missense	probably benign	0.01
R1751:Tln2	UTSW	9	67286514	missense	probably benign	0.01
R1761:Tln2	UTSW	9	67286514	missense	probably benign	0.01
R1767:Tln2	UTSW	9	67286514	missense	probably benign	0.01
R1815:Tln2	UTSW	9	67229423	missense	probably damaging	1.00
R1840:Tln2	UTSW	9	67342043	missense	probably damaging	1.00
R1847:Tln2	UTSW	9	67362687	nonsense	probably null
R1964:Tln2	UTSW	9	67342135	missense	probably benign	0.00
R1968:Tln2	UTSW	9	67255901	missense	probably damaging	1.00
R2036:Tln2	UTSW	9	67272704	missense	possibly damaging	0.76
R2038:Tln2	UTSW	9	67397653	start codon destroyed	probably benign	0.01
R2152:Tln2	UTSW	9	67302560	missense	probably damaging	1.00
R2153:Tln2	UTSW	9	67302560	missense	probably damaging	1.00
R2154:Tln2	UTSW	9	67302560	missense	probably damaging	1.00
R2191:Tln2	UTSW	9	67355221	missense	probably damaging	1.00
R2192:Tln2	UTSW	9	67355221	missense	probably damaging	1.00
R2201:Tln2	UTSW	9	67375757	missense	probably damaging	1.00
R3116:Tln2	UTSW	9	67355139	missense	probably benign	0.10
R3151:Tln2	UTSW	9	67330547	critical splice donor site	probably null
R3795:Tln2	UTSW	9	67255915	missense	probably damaging	0.97
R3953:Tln2	UTSW	9	67370629	missense	probably damaging	1.00
R4450:Tln2	UTSW	9	67344065	critical splice donor site	probably null
R4685:Tln2	UTSW	9	67302572	missense	probably damaging	1.00
R4688:Tln2	UTSW	9	67397653	start codon destroyed	probably benign	0.01
R4696:Tln2	UTSW	9	67395461	missense	probably damaging	1.00
R4697:Tln2	UTSW	9	67395461	missense	probably damaging	1.00
R4700:Tln2	UTSW	9	67346527	missense	probably benign	0.03
R4701:Tln2	UTSW	9	67346527	missense	probably benign	0.03
R4741:Tln2	UTSW	9	67386555	critical splice donor site	probably null
R4806:Tln2	UTSW	9	67331733	missense	probably benign	0.29
R4807:Tln2	UTSW	9	67331733	missense	probably benign	0.29
R4808:Tln2	UTSW	9	67331733	missense	probably benign	0.29
R4967:Tln2	UTSW	9	67355125	missense	probably damaging	0.97
R5092:Tln2	UTSW	9	67256028	missense	probably benign	0.13
R5093:Tln2	UTSW	9	67334314	missense	probably benign	0.44
R5126:Tln2	UTSW	9	67258535	missense	probably damaging	1.00
R5204:Tln2	UTSW	9	67354482	missense	probably benign	0.00
R5236:Tln2	UTSW	9	67365923	missense	probably damaging	0.99
R5287:Tln2	UTSW	9	67242359	missense	probably damaging	1.00
R5568:Tln2	UTSW	9	67311865	missense	probably damaging	1.00
R5571:Tln2	UTSW	9	67334320	missense	possibly damaging	0.88
R5642:Tln2	UTSW	9	67296358	missense	probably benign	0.01
R5711:Tln2	UTSW	9	67392547	missense	probably benign	0.00
R5776:Tln2	UTSW	9	67258250	missense	probably damaging	1.00
R5791:Tln2	UTSW	9	67386605	missense	probably damaging	0.98
R5866:Tln2	UTSW	9	67266868	missense	probably damaging	1.00
R5888:Tln2	UTSW	9	67229403	missense	probably damaging	1.00
R5902:Tln2	UTSW	9	67362717	missense	probably benign	0.02
R6106:Tln2	UTSW	9	67323020	missense	probably damaging	0.99
R6175:Tln2	UTSW	9	67224081	missense	probably damaging	1.00
R6385:Tln2	UTSW	9	67278129	missense	probably benign	0.45
R6430:Tln2	UTSW	9	67272665	missense	probably damaging	1.00
R6441:Tln2	UTSW	9	67272689	missense	probably damaging	1.00
R6738:Tln2	UTSW	9	67386664	missense	possibly damaging	0.91
R6776:Tln2	UTSW	9	67262905	missense	probably damaging	1.00
R6794:Tln2	UTSW	9	67286558	missense	probably benign	0.07
R6850:Tln2	UTSW	9	67258535	missense	probably damaging	1.00
R6907:Tln2	UTSW	9	67397635	missense	probably damaging	0.98
R6909:Tln2	UTSW	9	67392532	missense	probably damaging	0.97
R6951:Tln2	UTSW	9	67258485	missense	probably damaging	0.97
R7015:Tln2	UTSW	9	67362647	missense	possibly damaging	0.55
R7051:Tln2	UTSW	9	67346417	missense	probably benign	0.00
R7246:Tln2	UTSW	9	67262979	missense	probably damaging	1.00
R7292:Tln2	UTSW	9	67346461	missense	probably benign
R7753:Tln2	UTSW	9	67395473	missense	probably damaging	1.00
X0027:Tln2	UTSW	9	67376853	missense	probably damaging	1.00
X0064:Tln2	UTSW	9	67348138	missense	probably damaging	1.00
X0067:Tln2	UTSW	9	67370691	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGACACTAAAAGGTCTCCCTACTC -3'
(R):5'- TATCCTTGCATCTCACCGGG -3'

Sequencing Primer
(F):5'- ACTCAAATCATGTCCTTGGAGC -3'
(R):5'- CTGGCATACAACTGGAGATCTTCG -3'

Posted On

2016-06-06