Mutagenetix > Incidental Mutations

Incidental Mutation 'R4688:Tln2'

353874

Institutional Source

Beutler Lab

Gene Symbol

Tln2

Ensembl Gene

ENSMUSG00000052698

Gene Name

talin 2

Synonyms

MMRRC Submission

041939-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R4688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67217087-67559703 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to G at 67397653 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000151111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039662] [ENSMUST00000040025] [ENSMUST00000213584] [ENSMUST00000215784]

Predicted Effect

probably benign
Transcript: ENSMUST00000039662

SMART Domains

Protein: ENSMUSP00000035272
Gene: ENSMUSG00000052698

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

SMART Domains

Protein: ENSMUSP00000039633
Gene: ENSMUSG00000052698

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: ENSMUST00000213584
AA Change: M1L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000215784
AA Change: M1L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,593,449	S530P	probably benign	Het
1700003E16Rik	A	G	6: 83,162,698	N535S	probably damaging	Het
2810403A07Rik	T	A	3: 88,686,517	M71K	probably damaging	Het
9930021J03Rik	A	G	19: 29,717,101	I1664T	probably benign	Het
Abcc12	T	C	8: 86,548,694	S452G	possibly damaging	Het
Acacb	C	A	5: 114,204,763	Q897K	probably benign	Het
Acot3	C	A	12: 84,053,917	R145S	probably damaging	Het
AI314180	A	G	4: 58,840,757	V667A	probably damaging	Het
Ankrd54	A	T	15: 79,054,582	Y247N	probably damaging	Het
Arl11	G	A	14: 61,311,097	V119I	probably benign	Het
Atxn7	T	A	14: 14,089,288	M268K	probably benign	Het
Bms1	G	A	6: 118,392,706	R934C	probably damaging	Het
Ccdc129	G	A	6: 55,967,147		probably null	Het
Chrnb3	T	C	8: 27,394,119	S295P	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 25,291,670		probably null	Het
Cnr1	A	T	4: 33,944,571	I320F	probably benign	Het
Cntn4	C	T	6: 106,437,949	P147L	probably damaging	Het
Col24a1	G	A	3: 145,314,383	V172I	probably benign	Het
Col9a3	A	G	2: 180,607,631	D262G	probably damaging	Het
Csrnp2	A	G	15: 100,482,360	V350A	probably damaging	Het
D630045J12Rik	A	G	6: 38,196,657	V192A	possibly damaging	Het
Deptor	A	G	15: 55,208,781	M219V	probably benign	Het
Dmrtb1	A	T	4: 107,684,050	L38Q	probably damaging	Het
Dvl2	G	A	11: 70,007,518	R367Q	possibly damaging	Het
Dync1h1	T	G	12: 110,655,528	I3435S	probably damaging	Het
Eif2b3	A	G	4: 117,058,849	N218D	probably benign	Het
Epha2	A	G	4: 141,318,981	D497G	probably benign	Het
Epha7	G	T	4: 28,821,367	L177F	probably damaging	Het
Fam214b	A	G	4: 43,034,663	F352S	probably damaging	Het
Fam98c	C	T	7: 29,155,241	E147K	probably damaging	Het
Fbxo17	A	G	7: 28,732,554	T19A	probably benign	Het
Fbxo47	A	G	11: 97,856,223	F339S	probably damaging	Het
Frmd4a	G	T	2: 4,537,311	V234L	possibly damaging	Het
Gal3st2	A	G	1: 93,872,523	D32G	probably damaging	Het
Gpr135	T	C	12: 72,070,946	T16A	probably benign	Het
Gpr160	A	T	3: 30,896,686	R302S	probably benign	Het
Hrh2	C	A	13: 54,214,801	N265K	probably benign	Het
Htatip2	C	A	7: 49,773,423	A242E	probably damaging	Het
Igfbp7	T	C	5: 77,407,635	Y127C	probably damaging	Het
Igkv16-104	A	G	6: 68,425,894	Q57R	possibly damaging	Het
Ino80c	A	G	18: 24,108,846	S161P	probably damaging	Het
Kcnc1	A	G	7: 46,397,835	D53G	probably benign	Het
Lce1h	G	T	3: 92,763,567	R93S	unknown	Het
Lce1k	T	C	3: 92,806,644	S78G	unknown	Het
Lhcgr	T	A	17: 88,765,152	I156F	probably damaging	Het
Lpl	T	C	8: 68,899,425	Y343H	probably damaging	Het
Lrp6	G	T	6: 134,479,743	R853S	probably damaging	Het
Lrrc7	A	G	3: 158,148,605	V1322A	probably damaging	Het
Lrrc74a	C	T	12: 86,737,698	Q67*	probably null	Het
Megf6	A	T	4: 154,253,814	D447V	probably damaging	Het
Mep1a	T	C	17: 43,482,248	D355G	possibly damaging	Het
Ncoa1	T	C	12: 4,315,781	D95G	probably benign	Het
Npepl1	A	T	2: 174,114,442	I139F	possibly damaging	Het
Nrcam	T	C	12: 44,547,237	S262P	probably benign	Het
Nrp1	A	G	8: 128,502,566	N842D	probably benign	Het
Olfml3	A	G	3: 103,732,181		probably benign	Het
Olfr1375	A	G	11: 51,048,988	R294G	probably damaging	Het
Olfr1505	A	T	19: 13,919,241	T74S	probably benign	Het
Olfr32	T	A	2: 90,138,999	N47Y	possibly damaging	Het
Olfr421-ps1	T	C	1: 174,151,596	Y27H	possibly damaging	Het
Olfr711	T	A	7: 106,971,861	Y161F	probably benign	Het
Olfr773	G	A	10: 129,186,645	P259S	probably damaging	Het
Olfr918	A	G	9: 38,673,363	L27P	probably damaging	Het
Pde2a	A	G	7: 101,502,834	N316S	probably benign	Het
Pde4dip	T	A	3: 97,843,677	R74*	probably null	Het
Pex13	A	T	11: 23,655,472	W253R	possibly damaging	Het
Piezo1	A	T	8: 122,488,539	W1444R	probably damaging	Het
Pla2g4e	T	C	2: 120,167,933	K843R	possibly damaging	Het
Plxna2	C	T	1: 194,644,445	P229L	probably damaging	Het
Prelid3b	G	T	2: 174,466,799	T131K	probably benign	Het
Pros1	T	C	16: 62,889,007		probably null	Het
Prrc2c	G	T	1: 162,697,687	P450Q	unknown	Het
Ptbp1	G	T	10: 79,856,508	V5F	possibly damaging	Het
Ptk2	T	A	15: 73,206,225	L997F	probably damaging	Het
Rims1	G	T	1: 22,479,447	S525*	probably null	Het
Sh2b3	T	A	5: 121,818,634	D318V	probably benign	Het
Slc16a13	A	T	11: 70,220,275	I88N	probably damaging	Het
Slit2	T	A	5: 48,257,003		probably null	Het
Snx10	A	G	6: 51,579,938	N67S	probably damaging	Het
Stil	A	G	4: 115,041,308	Y1045C	probably damaging	Het
Stra6	A	G	9: 58,135,076		probably null	Het
Sympk	A	G	7: 19,054,410	S1254G	probably benign	Het
Syt15	G	T	14: 34,228,054	G377V	probably damaging	Het
Taar4	A	T	10: 23,960,833	I114F	probably damaging	Het
Tcaf3	G	A	6: 42,593,366		probably null	Het
Tgm7	A	T	2: 121,094,021	N558K	probably benign	Het
Trim50	C	T	5: 135,367,140	T314I	probably damaging	Het
Trp53rka	A	T	2: 165,491,392	Y192*	probably null	Het
Ube3b	T	C	5: 114,393,078	V211A	probably benign	Het
Ush2a	A	G	1: 188,399,941	S787G	probably benign	Het
Vmn1r189	T	C	13: 22,102,119	M183V	probably damaging	Het
Vps13d	G	T	4: 145,178,212	Q115K	probably benign	Het
Zfp358	A	G	8: 3,495,493	D25G	probably damaging	Het
Zfp521	T	G	18: 13,844,590	K922T	probably damaging	Het
Zfp521	T	A	18: 13,844,591	K922*	probably null	Het
Zfp68	T	A	5: 138,616,481	K4*	probably null	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
BB008:Tln2	UTSW	9	67258460	critical splice donor site	probably null
BB018:Tln2	UTSW	9	67258460	critical splice donor site	probably null
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
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
R5061:Tln2	UTSW	9	67354468	missense	probably benign
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
R7868:Tln2	UTSW	9	67348226	missense	probably damaging	1.00
R7931:Tln2	UTSW	9	67258460	critical splice donor site	probably null
R8023:Tln2	UTSW	9	67224064	missense	probably damaging	1.00
R8081:Tln2	UTSW	9	67356747	missense	probably damaging	1.00
R8164:Tln2	UTSW	9	67319420	missense	probably benign	0.31
R8192:Tln2	UTSW	9	67346529	nonsense	probably null
R8495:Tln2	UTSW	9	67354467	missense	probably benign	0.01
R8734:Tln2	UTSW	9	67272654	missense	probably benign	0.19
R8739:Tln2	UTSW	9	67258273	missense	probably damaging	1.00
R8757:Tln2	UTSW	9	67367218	missense	probably damaging	1.00
R8759:Tln2	UTSW	9	67367218	missense	probably damaging	1.00
R8770:Tln2	UTSW	9	67323022	missense	probably benign
R8781:Tln2	UTSW	9	67255951	missense	probably damaging	1.00
R8812:Tln2	UTSW	9	67221411	missense	possibly damaging	0.75
R8814:Tln2	UTSW	9	67221411	missense	possibly damaging	0.75
R8816:Tln2	UTSW	9	67221411	missense	possibly damaging	0.75
R8816:Tln2	UTSW	9	67221517	missense	probably damaging	1.00
R8833:Tln2	UTSW	9	67221411	missense	possibly damaging	0.75
R8837:Tln2	UTSW	9	67250584	missense	probably damaging	0.99
R8843:Tln2	UTSW	9	67395545	missense	probably damaging	1.00
R8864:Tln2	UTSW	9	67330552	nonsense	probably null
R8867:Tln2	UTSW	9	67330550	missense	probably damaging	0.98
R8921:Tln2	UTSW	9	67266823	missense	probably damaging	0.99
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
Z1176:Tln2	UTSW	9	67346485	missense	possibly damaging	0.46

Predicted Primers

Posted On

2015-10-21