Incidental Mutation 'IGL02005:Tln2'
ID 279269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tln2
Ensembl Gene ENSMUSG00000052698
Gene Name talin 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL02005
Quality Score
Status
Chromosome 9
Chromosomal Location 67124369-67466985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 67299787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 155 (R155Q)
Ref Sequence ENSEMBL: ENSMUSP00000039633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039662] [ENSMUST00000040025] [ENSMUST00000213584] [ENSMUST00000215784]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039662
AA Change: R155Q

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035272
Gene: ENSMUSG00000052698
AA Change: R155Q

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000040025
AA Change: R155Q

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039633
Gene: ENSMUSG00000052698
AA Change: R155Q

DomainStartEndE-ValueType
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
Predicted Effect possibly damaging
Transcript: ENSMUST00000215784
AA Change: R157Q

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,965,927 (GRCm39) D141G probably damaging Het
Ankhd1 T G 18: 36,781,479 (GRCm39) L2177R probably damaging Het
Arhgap23 A T 11: 97,382,045 (GRCm39) D1136V probably damaging Het
Atp6v1b1 A G 6: 83,730,896 (GRCm39) probably benign Het
Atxn1 T C 13: 45,721,701 (GRCm39) T65A probably benign Het
Bbs4 A G 9: 59,243,638 (GRCm39) probably benign Het
Bms1 G A 6: 118,381,546 (GRCm39) T664M probably damaging Het
Bod1l T C 5: 41,973,682 (GRCm39) D2544G probably benign Het
Cdhr2 C T 13: 54,867,576 (GRCm39) H469Y probably benign Het
Cep57l1 T C 10: 41,616,957 (GRCm39) D110G probably benign Het
Chd4 G A 6: 125,105,779 (GRCm39) E1786K possibly damaging Het
Cltc T C 11: 86,621,045 (GRCm39) K321E possibly damaging Het
Col6a2 T C 10: 76,446,007 (GRCm39) D383G probably damaging Het
Crcp T G 5: 130,071,074 (GRCm39) C58G probably benign Het
Ctc1 A G 11: 68,921,975 (GRCm39) Y807C probably damaging Het
Eml4 T A 17: 83,785,132 (GRCm39) probably benign Het
Glce A T 9: 61,967,859 (GRCm39) L431I probably damaging Het
Glp1r C A 17: 31,143,585 (GRCm39) T207K probably benign Het
Gm28042 G A 2: 119,865,115 (GRCm39) V247I possibly damaging Het
Gvin-ps5 G T 7: 105,928,627 (GRCm39) F423L unknown Het
Hcrtr1 T A 4: 130,031,056 (GRCm39) H76L probably benign Het
Hoxb13 G A 11: 96,085,435 (GRCm39) G56D probably damaging Het
Hykk A G 9: 54,827,842 (GRCm39) E27G possibly damaging Het
Kars1 A T 8: 112,726,736 (GRCm39) L321* probably null Het
Klhl12 A T 1: 134,391,652 (GRCm39) T95S possibly damaging Het
Klhl14 A T 18: 21,757,668 (GRCm39) Y347* probably null Het
Kmt5b A G 19: 3,836,538 (GRCm39) H25R possibly damaging Het
Krtap12-1 T A 10: 77,556,823 (GRCm39) V122D probably damaging Het
Lrrc66 T C 5: 73,766,077 (GRCm39) D322G possibly damaging Het
Lrrc8b T A 5: 105,628,920 (GRCm39) V422D probably benign Het
Med12l T G 3: 59,152,368 (GRCm39) M1051R probably damaging Het
Mmrn1 A G 6: 60,937,728 (GRCm39) Y242C probably damaging Het
Ncf2 A T 1: 152,692,803 (GRCm39) I107L possibly damaging Het
Or6b13 C T 7: 139,782,345 (GRCm39) E113K probably damaging Het
Pdlim4 T C 11: 53,950,810 (GRCm39) D93G probably benign Het
Pgap1 C A 1: 54,590,214 (GRCm39) A75S probably damaging Het
Pkd1 A G 17: 24,804,978 (GRCm39) D3209G possibly damaging Het
Prcp T C 7: 92,577,032 (GRCm39) S319P probably benign Het
Rasal2 G A 1: 156,984,568 (GRCm39) Q1035* probably null Het
Ryr3 A T 2: 112,493,608 (GRCm39) probably benign Het
Scaf8 T C 17: 3,236,145 (GRCm39) I544T probably damaging Het
Svep1 A T 4: 58,069,056 (GRCm39) V2910E possibly damaging Het
Trpm7 A T 2: 126,655,104 (GRCm39) L1278H probably damaging Het
Tti2 G T 8: 31,645,858 (GRCm39) G391C probably damaging Het
Ttn C T 2: 76,778,363 (GRCm39) M1295I possibly damaging Het
Ttn T C 2: 76,554,313 (GRCm39) probably benign Het
Vmn1r170 G A 7: 23,306,338 (GRCm39) V247M probably damaging Het
Wdr48 T C 9: 119,734,455 (GRCm39) Y125H probably damaging Het
Wdtc1 C T 4: 133,036,225 (GRCm39) R105H probably benign Het
Zc3h11a A G 1: 133,549,880 (GRCm39) S699P probably benign Het
Zkscan14 C T 5: 145,132,419 (GRCm39) V371I probably benign Het
Zzef1 A T 11: 72,779,125 (GRCm39) Y1862F probably benign Het
Other mutations in Tln2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5791:Tln2 UTSW 9 67,293,887 (GRCm39) missense probably damaging 0.98
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
Posted On 2015-04-16