Mutagenetix > Incidental Mutation

Incidental Mutation 'R5791:Tln2'

446978

Institutional Source

Beutler Lab

Gene Symbol

Tln2

Ensembl Gene

ENSMUSG00000052698

Gene Name

talin 2

Synonyms

MMRRC Submission

043207-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R5791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67124369-67466985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67293887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 247 (I247K)

Ref Sequence

ENSEMBL: ENSMUSP00000039633 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039662
AA Change: I247K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035272
Gene: ENSMUSG00000052698
AA Change: I247K

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 damaging
Transcript: ENSMUST00000040025
AA Change: I247K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039633
Gene: ENSMUSG00000052698
AA Change: I247K

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 damaging
Transcript: ENSMUST00000215784
AA Change: I249K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 41,207,257 (GRCm39)	Q174H	probably benign	Het
Adipor2	A	T	6: 119,338,866 (GRCm39)	M129K	possibly damaging	Het
Arhgap29	T	A	3: 121,807,894 (GRCm39)	M616K	probably damaging	Het
Calcrl	A	T	2: 84,181,609 (GRCm39)	F180I	probably damaging	Het
Cdh4	T	C	2: 179,537,560 (GRCm39)	V864A	probably damaging	Het
Cep78	A	G	19: 15,938,436 (GRCm39)	F504S	probably benign	Het
Coasy	A	G	11: 100,975,211 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,530,696 (GRCm39)	N751S	probably benign	Het
Ecpas	C	T	4: 58,814,027 (GRCm39)	E1360K	possibly damaging	Het
Ecpas	T	A	4: 58,822,111 (GRCm39)	D1152V	probably damaging	Het
Eea1	T	A	10: 95,855,857 (GRCm39)	N631K	probably benign	Het
Fam149b	A	G	14: 20,401,394 (GRCm39)	K27R	probably damaging	Het
Fbxw26	A	G	9: 109,574,221 (GRCm39)	W42R	probably damaging	Het
Gas6	A	G	8: 13,520,217 (GRCm39)		probably null	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gmppa	T	C	1: 75,418,899 (GRCm39)	V324A	possibly damaging	Het
Gstm2	C	T	3: 107,891,444 (GRCm39)		probably null	Het
Kcng3	A	G	17: 83,895,639 (GRCm39)	S276P	probably benign	Het
Lrrd1	T	C	5: 3,901,254 (GRCm39)	S520P	probably benign	Het
Lrrn2	A	G	1: 132,865,505 (GRCm39)	N190S	probably benign	Het
Lrwd1	G	C	5: 136,159,887 (GRCm39)	A392G	probably benign	Het
Mab21l2	A	G	3: 86,454,044 (GRCm39)	Y319H	probably damaging	Het
Ndufv3	A	G	17: 31,746,382 (GRCm39)	N91D	probably benign	Het
Nfatc2	T	A	2: 168,378,313 (GRCm39)	M451L	probably benign	Het
Or10g9b	A	T	9: 39,918,030 (GRCm39)	S72T	probably damaging	Het
Pcdhgb2	G	T	18: 37,825,393 (GRCm39)	V795F	possibly damaging	Het
Pdcd11	T	A	19: 47,099,430 (GRCm39)	M843K	possibly damaging	Het
Pla2g4c	T	A	7: 13,073,617 (GRCm39)	N221K	probably benign	Het
Ppox	T	C	1: 171,104,885 (GRCm39)	Y422C	probably damaging	Het
Retreg3	A	G	11: 100,991,769 (GRCm39)	S55P	probably damaging	Het
Rnf103	C	A	6: 71,485,909 (GRCm39)	T180K	probably damaging	Het
Tbl3	A	T	17: 24,923,408 (GRCm39)	L307H	probably damaging	Het
Tex26	A	T	5: 149,363,240 (GRCm39)		probably null	Het
Txlnb	T	C	10: 17,674,876 (GRCm39)	S10P	probably benign	Het
Vwde	C	A	6: 13,195,985 (GRCm39)	E347*	probably null	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Zfp14	A	G	7: 29,737,687 (GRCm39)	S433P	probably damaging	Het
Zfp647	G	T	15: 76,802,206 (GRCm39)	A2E	unknown	Het

Other mutations in Tln2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Tln2	APN	9	67,251,469 (GRCm39)	missense	possibly damaging	0.59
IGL01110:Tln2	APN	9	67,157,864 (GRCm39)	nonsense	probably null
IGL01112:Tln2	APN	9	67,219,093 (GRCm39)	missense	probably damaging	1.00
IGL01307:Tln2	APN	9	67,302,749 (GRCm39)	missense	probably benign	0.25
IGL01374:Tln2	APN	9	67,169,205 (GRCm39)	missense	probably damaging	1.00
IGL01625:Tln2	APN	9	67,277,905 (GRCm39)	missense	probably damaging	1.00
IGL01865:Tln2	APN	9	67,157,896 (GRCm39)	nonsense	probably null
IGL01999:Tln2	APN	9	67,299,787 (GRCm39)	missense	possibly damaging	0.81
IGL02002:Tln2	APN	9	67,263,980 (GRCm39)	missense	probably damaging	0.98
IGL02005:Tln2	APN	9	67,299,787 (GRCm39)	missense	possibly damaging	0.81
IGL02015:Tln2	APN	9	67,268,721 (GRCm39)	splice site	probably benign
IGL02368:Tln2	APN	9	67,148,092 (GRCm39)	splice site	probably benign
IGL02444:Tln2	APN	9	67,165,874 (GRCm39)	splice site	probably benign
IGL02646:Tln2	APN	9	67,163,278 (GRCm39)	missense	probably benign	0.43
IGL02744:Tln2	APN	9	67,136,658 (GRCm39)	nonsense	probably null
IGL02869:Tln2	APN	9	67,128,807 (GRCm39)	splice site	probably benign
IGL02930:Tln2	APN	9	67,300,944 (GRCm39)	nonsense	probably null
IGL03100:Tln2	APN	9	67,203,019 (GRCm39)	missense	probably damaging	1.00
IGL03326:Tln2	APN	9	67,241,539 (GRCm39)	missense	possibly damaging	0.67
Harrier	UTSW	9	67,237,834 (GRCm39)	nonsense	probably null
Marsh	UTSW	9	67,179,936 (GRCm39)	missense	probably benign	0.19
BB008:Tln2	UTSW	9	67,165,742 (GRCm39)	critical splice donor site	probably null
BB018:Tln2	UTSW	9	67,165,742 (GRCm39)	critical splice donor site	probably null
R0047:Tln2	UTSW	9	67,147,954 (GRCm39)	splice site	probably benign
R0047:Tln2	UTSW	9	67,147,954 (GRCm39)	splice site	probably benign
R0107:Tln2	UTSW	9	67,277,988 (GRCm39)	missense	probably damaging	1.00
R0494:Tln2	UTSW	9	67,262,479 (GRCm39)	missense	probably benign	0.22
R0884:Tln2	UTSW	9	67,278,015 (GRCm39)	missense	probably damaging	1.00
R0947:Tln2	UTSW	9	67,203,095 (GRCm39)	missense	probably benign	0.08
R0989:Tln2	UTSW	9	67,136,736 (GRCm39)	missense	probably damaging	1.00
R1195:Tln2	UTSW	9	67,165,848 (GRCm39)	missense	probably damaging	0.96
R1195:Tln2	UTSW	9	67,165,848 (GRCm39)	missense	probably damaging	0.96
R1195:Tln2	UTSW	9	67,165,848 (GRCm39)	missense	probably damaging	0.96
R1486:Tln2	UTSW	9	67,219,121 (GRCm39)	missense	probably damaging	1.00
R1527:Tln2	UTSW	9	67,179,950 (GRCm39)	missense	possibly damaging	0.95
R1584:Tln2	UTSW	9	67,203,696 (GRCm39)	missense	probably damaging	1.00
R1636:Tln2	UTSW	9	67,213,814 (GRCm39)	missense	probably damaging	1.00
R1656:Tln2	UTSW	9	67,134,389 (GRCm39)	missense	possibly damaging	0.81
R1707:Tln2	UTSW	9	67,283,089 (GRCm39)	missense	probably benign	0.00
R1749:Tln2	UTSW	9	67,193,796 (GRCm39)	missense	probably benign	0.01
R1751:Tln2	UTSW	9	67,193,796 (GRCm39)	missense	probably benign	0.01
R1761:Tln2	UTSW	9	67,193,796 (GRCm39)	missense	probably benign	0.01
R1767:Tln2	UTSW	9	67,193,796 (GRCm39)	missense	probably benign	0.01
R1815:Tln2	UTSW	9	67,136,705 (GRCm39)	missense	probably damaging	1.00
R1840:Tln2	UTSW	9	67,249,325 (GRCm39)	missense	probably damaging	1.00
R1847:Tln2	UTSW	9	67,269,969 (GRCm39)	nonsense	probably null
R1964:Tln2	UTSW	9	67,249,417 (GRCm39)	missense	probably benign	0.00
R1968:Tln2	UTSW	9	67,163,183 (GRCm39)	missense	probably damaging	1.00
R2036:Tln2	UTSW	9	67,179,986 (GRCm39)	missense	possibly damaging	0.76
R2038:Tln2	UTSW	9	67,304,935 (GRCm39)	start codon destroyed	probably benign	0.01
R2152:Tln2	UTSW	9	67,209,842 (GRCm39)	missense	probably damaging	1.00
R2153:Tln2	UTSW	9	67,209,842 (GRCm39)	missense	probably damaging	1.00
R2154:Tln2	UTSW	9	67,209,842 (GRCm39)	missense	probably damaging	1.00
R2191:Tln2	UTSW	9	67,262,503 (GRCm39)	missense	probably damaging	1.00
R2192:Tln2	UTSW	9	67,262,503 (GRCm39)	missense	probably damaging	1.00
R2201:Tln2	UTSW	9	67,283,039 (GRCm39)	missense	probably damaging	1.00
R3116:Tln2	UTSW	9	67,262,421 (GRCm39)	missense	probably benign	0.10
R3151:Tln2	UTSW	9	67,237,829 (GRCm39)	critical splice donor site	probably null
R3795:Tln2	UTSW	9	67,163,197 (GRCm39)	missense	probably damaging	0.97
R3953:Tln2	UTSW	9	67,277,911 (GRCm39)	missense	probably damaging	1.00
R4450:Tln2	UTSW	9	67,251,347 (GRCm39)	critical splice donor site	probably null
R4685:Tln2	UTSW	9	67,209,854 (GRCm39)	missense	probably damaging	1.00
R4688:Tln2	UTSW	9	67,304,935 (GRCm39)	start codon destroyed	probably benign	0.01
R4696:Tln2	UTSW	9	67,302,743 (GRCm39)	missense	probably damaging	1.00
R4697:Tln2	UTSW	9	67,302,743 (GRCm39)	missense	probably damaging	1.00
R4700:Tln2	UTSW	9	67,253,809 (GRCm39)	missense	probably benign	0.03
R4701:Tln2	UTSW	9	67,253,809 (GRCm39)	missense	probably benign	0.03
R4741:Tln2	UTSW	9	67,293,837 (GRCm39)	critical splice donor site	probably null
R4806:Tln2	UTSW	9	67,239,015 (GRCm39)	missense	probably benign	0.29
R4807:Tln2	UTSW	9	67,239,015 (GRCm39)	missense	probably benign	0.29
R4808:Tln2	UTSW	9	67,239,015 (GRCm39)	missense	probably benign	0.29
R4967:Tln2	UTSW	9	67,262,407 (GRCm39)	missense	probably damaging	0.97
R5061:Tln2	UTSW	9	67,261,750 (GRCm39)	missense	probably benign
R5092:Tln2	UTSW	9	67,163,310 (GRCm39)	missense	probably benign	0.13
R5093:Tln2	UTSW	9	67,241,596 (GRCm39)	missense	probably benign	0.44
R5126:Tln2	UTSW	9	67,165,817 (GRCm39)	missense	probably damaging	1.00
R5204:Tln2	UTSW	9	67,261,764 (GRCm39)	missense	probably benign	0.00
R5236:Tln2	UTSW	9	67,273,205 (GRCm39)	missense	probably damaging	0.99
R5287:Tln2	UTSW	9	67,149,641 (GRCm39)	missense	probably damaging	1.00
R5568:Tln2	UTSW	9	67,219,147 (GRCm39)	missense	probably damaging	1.00
R5571:Tln2	UTSW	9	67,241,602 (GRCm39)	missense	possibly damaging	0.88
R5642:Tln2	UTSW	9	67,203,640 (GRCm39)	missense	probably benign	0.01
R5711:Tln2	UTSW	9	67,299,829 (GRCm39)	missense	probably benign	0.00
R5776:Tln2	UTSW	9	67,165,532 (GRCm39)	missense	probably damaging	1.00
R5866:Tln2	UTSW	9	67,174,150 (GRCm39)	missense	probably damaging	1.00
R5888:Tln2	UTSW	9	67,136,685 (GRCm39)	missense	probably damaging	1.00
R5902:Tln2	UTSW	9	67,269,999 (GRCm39)	missense	probably benign	0.02
R6106:Tln2	UTSW	9	67,230,302 (GRCm39)	missense	probably damaging	0.99
R6175:Tln2	UTSW	9	67,131,363 (GRCm39)	missense	probably damaging	1.00
R6385:Tln2	UTSW	9	67,185,411 (GRCm39)	missense	probably benign	0.45
R6430:Tln2	UTSW	9	67,179,947 (GRCm39)	missense	probably damaging	1.00
R6441:Tln2	UTSW	9	67,179,971 (GRCm39)	missense	probably damaging	1.00
R6738:Tln2	UTSW	9	67,293,946 (GRCm39)	missense	possibly damaging	0.91
R6776:Tln2	UTSW	9	67,170,187 (GRCm39)	missense	probably damaging	1.00
R6794:Tln2	UTSW	9	67,193,840 (GRCm39)	missense	probably benign	0.07
R6850:Tln2	UTSW	9	67,165,817 (GRCm39)	missense	probably damaging	1.00
R6907:Tln2	UTSW	9	67,304,917 (GRCm39)	missense	probably damaging	0.98
R6909:Tln2	UTSW	9	67,299,814 (GRCm39)	missense	probably damaging	0.97
R6951:Tln2	UTSW	9	67,165,767 (GRCm39)	missense	probably damaging	0.97
R7015:Tln2	UTSW	9	67,269,929 (GRCm39)	missense	possibly damaging	0.55
R7051:Tln2	UTSW	9	67,253,699 (GRCm39)	missense	probably benign	0.00
R7246:Tln2	UTSW	9	67,170,261 (GRCm39)	missense	probably damaging	1.00
R7292:Tln2	UTSW	9	67,253,743 (GRCm39)	missense	probably benign
R7753:Tln2	UTSW	9	67,302,755 (GRCm39)	missense	probably damaging	1.00
R7868:Tln2	UTSW	9	67,255,508 (GRCm39)	missense	probably damaging	1.00
R7931:Tln2	UTSW	9	67,165,742 (GRCm39)	critical splice donor site	probably null
R8023:Tln2	UTSW	9	67,131,346 (GRCm39)	missense	probably damaging	1.00
R8081:Tln2	UTSW	9	67,264,029 (GRCm39)	missense	probably damaging	1.00
R8164:Tln2	UTSW	9	67,226,702 (GRCm39)	missense	probably benign	0.31
R8192:Tln2	UTSW	9	67,253,811 (GRCm39)	nonsense	probably null
R8495:Tln2	UTSW	9	67,261,749 (GRCm39)	missense	probably benign	0.01
R8734:Tln2	UTSW	9	67,179,936 (GRCm39)	missense	probably benign	0.19
R8739:Tln2	UTSW	9	67,165,555 (GRCm39)	missense	probably damaging	1.00
R8757:Tln2	UTSW	9	67,274,500 (GRCm39)	missense	probably damaging	1.00
R8759:Tln2	UTSW	9	67,274,500 (GRCm39)	missense	probably damaging	1.00
R8770:Tln2	UTSW	9	67,230,304 (GRCm39)	missense	probably benign
R8781:Tln2	UTSW	9	67,163,233 (GRCm39)	missense	probably damaging	1.00
R8812:Tln2	UTSW	9	67,128,693 (GRCm39)	missense	possibly damaging	0.75
R8814:Tln2	UTSW	9	67,128,693 (GRCm39)	missense	possibly damaging	0.75
R8816:Tln2	UTSW	9	67,128,799 (GRCm39)	missense	probably damaging	1.00
R8816:Tln2	UTSW	9	67,128,693 (GRCm39)	missense	possibly damaging	0.75
R8833:Tln2	UTSW	9	67,128,693 (GRCm39)	missense	possibly damaging	0.75
R8835:Tln2	UTSW	9	67,304,975 (GRCm39)	splice site	probably benign
R8837:Tln2	UTSW	9	67,157,866 (GRCm39)	missense	probably damaging	0.99
R8843:Tln2	UTSW	9	67,302,827 (GRCm39)	missense	probably damaging	1.00
R8864:Tln2	UTSW	9	67,237,834 (GRCm39)	nonsense	probably null
R8867:Tln2	UTSW	9	67,237,832 (GRCm39)	missense	probably damaging	0.98
R8921:Tln2	UTSW	9	67,174,105 (GRCm39)	missense	probably damaging	0.99
R9080:Tln2	UTSW	9	67,253,843 (GRCm39)	missense	probably damaging	1.00
R9083:Tln2	UTSW	9	67,269,927 (GRCm39)	missense	probably damaging	0.96
R9150:Tln2	UTSW	9	67,128,778 (GRCm39)	missense	probably damaging	1.00
R9287:Tln2	UTSW	9	67,277,980 (GRCm39)	missense	probably benign	0.20
R9330:Tln2	UTSW	9	67,229,213 (GRCm39)	missense	possibly damaging	0.61
R9343:Tln2	UTSW	9	67,230,353 (GRCm39)	missense	probably benign	0.10
R9355:Tln2	UTSW	9	67,262,529 (GRCm39)	missense	possibly damaging	0.46
R9383:Tln2	UTSW	9	67,278,043 (GRCm39)	missense	probably benign	0.17
R9386:Tln2	UTSW	9	67,273,249 (GRCm39)	missense	possibly damaging	0.78
R9407:Tln2	UTSW	9	67,136,732 (GRCm39)	missense	probably damaging	1.00
R9483:Tln2	UTSW	9	67,299,769 (GRCm39)	missense	probably damaging	1.00
R9523:Tln2	UTSW	9	67,165,766 (GRCm39)	missense	probably damaging	0.99
R9642:Tln2	UTSW	9	67,157,826 (GRCm39)	missense	probably benign	0.02
R9703:Tln2	UTSW	9	67,293,938 (GRCm39)	missense	probably damaging	1.00
X0027:Tln2	UTSW	9	67,284,135 (GRCm39)	missense	probably damaging	1.00
X0064:Tln2	UTSW	9	67,255,420 (GRCm39)	missense	probably damaging	1.00
X0067:Tln2	UTSW	9	67,277,973 (GRCm39)	missense	probably damaging	1.00
Z1176:Tln2	UTSW	9	67,253,767 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- ACAGTCTGCATTTGGGGTTC -3'
(R):5'- GCCCACTTTAGGAGGAGAATCC -3'

Sequencing Primer
(F):5'- ACAGTCTGCATTTGGGGTTCTAAAC -3'
(R):5'- GGAGGAGAATCCAAAAGCTTGTTTTC -3'

Posted On

2016-12-15