Incidental Mutation 'R6907:Tln2'
ID 538827
Institutional Source Beutler Lab
Gene Symbol Tln2
Ensembl Gene ENSMUSG00000052698
Gene Name talin 2
Synonyms
MMRRC Submission 044999-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R6907 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 67124369-67466985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67304917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 5 (S5T)
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 probably damaging
Transcript: ENSMUST00000039662
AA Change: S5T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035272
Gene: ENSMUSG00000052698
AA Change: S5T

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 probably damaging
Transcript: ENSMUST00000040025
AA Change: S5T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039633
Gene: ENSMUSG00000052698
AA Change: S5T

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 damaging
Transcript: ENSMUST00000213584
AA Change: S7T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215784
AA Change: S7T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (38/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,698,793 (GRCm39) I344V probably benign Het
Bmper A T 9: 23,310,868 (GRCm39) Q434L probably damaging Het
Cabyr A G 18: 12,883,969 (GRCm39) Y152C probably benign Het
Cactin G A 10: 81,159,278 (GRCm39) probably null Het
Cadps2 T C 6: 23,599,505 (GRCm39) D238G probably damaging Het
Card10 T C 15: 78,671,671 (GRCm39) T598A possibly damaging Het
Ctr9 C T 7: 110,629,449 (GRCm39) P25L probably damaging Het
Entpd5 T C 12: 84,424,127 (GRCm39) T409A probably benign Het
Exd1 A G 2: 119,363,957 (GRCm39) V137A probably damaging Het
Fcgbp G A 7: 27,784,443 (GRCm39) G168R probably damaging Het
Ift88 A G 14: 57,683,067 (GRCm39) N248S probably benign Het
Kntc1 T A 5: 123,939,888 (GRCm39) Y1561N probably damaging Het
Mef2c A G 13: 83,802,730 (GRCm39) D227G probably benign Het
Myh2 C T 11: 67,084,567 (GRCm39) T1702M probably damaging Het
Myo1e T A 9: 70,234,437 (GRCm39) N263K probably benign Het
Nfe2l1 A G 11: 96,710,636 (GRCm39) L373P probably damaging Het
Nob1 C T 8: 108,142,860 (GRCm39) V274M possibly damaging Het
Ntng2 A G 2: 29,118,218 (GRCm39) C77R probably damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or10ad1c T C 15: 98,085,649 (GRCm39) N10D probably damaging Het
Or5p55 T C 7: 107,567,459 (GRCm39) L285P probably damaging Het
Pcdh7 T A 5: 57,876,471 (GRCm39) W9R possibly damaging Het
Pcdha1 A G 18: 37,064,124 (GRCm39) T263A probably benign Het
Per3 C T 4: 151,128,015 (GRCm39) probably null Het
Pgbd5 A G 8: 125,107,021 (GRCm39) F265L probably damaging Het
Ppm1k T G 6: 57,487,755 (GRCm39) E356A probably benign Het
Ptgfr G T 3: 151,540,938 (GRCm39) T190K possibly damaging Het
Sec24a A G 11: 51,603,103 (GRCm39) Y782H probably damaging Het
Setd1b T C 5: 123,301,295 (GRCm39) probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,090,323 (GRCm39) T253I possibly damaging Het
Tcf4 C T 18: 69,785,484 (GRCm39) T207M probably damaging Het
Thada T C 17: 84,700,897 (GRCm39) N1203S probably damaging Het
Traf4 C T 11: 78,051,268 (GRCm39) R296Q probably benign Het
Ttbk2 A G 2: 120,655,751 (GRCm39) S38P probably benign Het
Vrk1 G T 12: 106,041,291 (GRCm39) Q395H possibly damaging Het
Vwa3a G T 7: 120,391,804 (GRCm39) probably benign Het
Wdsub1 C T 2: 59,692,028 (GRCm39) V335I possibly damaging 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
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
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
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'- GTTTAAAATGTGACTAGGCATGTCCC -3'
(R):5'- ACAACACTCACACTGGTTCTG -3'

Sequencing Primer
(F):5'- AGGCATGTCCCTTTAGCTACAGAG -3'
(R):5'- CTCACACTGGTTCTGAGAGCAATG -3'
Posted On 2018-11-06