Incidental Mutation 'R5571:Tln2'
ID 435676
Institutional Source Beutler Lab
Gene Symbol Tln2
Ensembl Gene ENSMUSG00000052698
Gene Name talin 2
Synonyms
MMRRC Submission 044395-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R5571 (G1)
Quality Score 149
Status Validated
Chromosome 9
Chromosomal Location 67124369-67466985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 67241602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 1001 (G1001E)
Ref Sequence ENSEMBL: ENSMUSP00000148901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039662] [ENSMUST00000040025] [ENSMUST00000215784] [ENSMUST00000217550]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039662
AA Change: G999E

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035272
Gene: ENSMUSG00000052698
AA Change: G999E

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: G999E

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039633
Gene: ENSMUSG00000052698
AA Change: G999E

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 possibly damaging
Transcript: ENSMUST00000215784
AA Change: G1001E

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000217550
Meta Mutation Damage Score 0.2544 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
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
Aadacl2fm3 A T 3: 59,784,640 (GRCm39) H371L probably damaging Het
Atad5 T C 11: 80,002,382 (GRCm39) V1058A probably benign Het
Baiap2l2 T C 15: 79,155,783 (GRCm39) H97R probably damaging Het
Bax A G 7: 45,111,315 (GRCm39) S184P probably damaging Het
Bsph1 T G 7: 13,184,840 (GRCm39) M1R probably null Het
Cbln2 A G 18: 86,731,273 (GRCm39) D27G probably benign Het
Cntnap3 G A 13: 65,051,572 (GRCm39) A28V probably damaging Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Dhrs3 T G 4: 144,620,134 (GRCm39) I17S probably benign Het
Ep300 T C 15: 81,527,418 (GRCm39) probably benign Het
Epb41 T C 4: 131,664,717 (GRCm39) probably benign Het
Fat4 A T 3: 39,064,423 (GRCm39) E4793V probably damaging Het
Fbxw22 T G 9: 109,232,156 (GRCm39) K80N probably damaging Het
Fbxw24 T C 9: 109,436,066 (GRCm39) E322G probably benign Het
Fcgbpl1 A G 7: 27,855,994 (GRCm39) D1927G probably damaging Het
Fndc7 T C 3: 108,763,724 (GRCm39) I639V possibly damaging Het
Folh1 T C 7: 86,383,328 (GRCm39) Y473C probably damaging Het
Foxb2 T A 19: 16,850,131 (GRCm39) M292L probably benign Het
Gapvd1 A G 2: 34,605,265 (GRCm39) S41P probably damaging Het
Gmds A T 13: 32,101,704 (GRCm39) probably null Het
Gp6 G T 7: 4,371,899 (GRCm39) A302D probably damaging Het
Hmgcr A T 13: 96,803,171 (GRCm39) M8K probably benign Het
Itpripl2 C T 7: 118,089,092 (GRCm39) R489Q probably damaging Het
Kmo T C 1: 175,474,760 (GRCm39) V175A possibly damaging Het
Lce1i C T 3: 92,684,988 (GRCm39) G63S unknown Het
Lrp1b T C 2: 41,298,354 (GRCm39) Q155R probably damaging Het
Mdm1 T C 10: 117,995,588 (GRCm39) S541P possibly damaging Het
Neto2 C T 8: 86,367,173 (GRCm39) D524N probably damaging Het
Oga T C 19: 45,765,445 (GRCm39) T121A probably benign Het
Or1j10 A G 2: 36,267,129 (GRCm39) T114A probably benign Het
Or2ak6 T A 11: 58,592,877 (GRCm39) F117I probably damaging Het
Or5bw2 T C 7: 6,573,824 (GRCm39) I278T possibly damaging Het
Or5h17 A T 16: 58,820,569 (GRCm39) I174L probably benign Het
Ppp4r1 C T 17: 66,110,856 (GRCm39) Q21* probably null Het
Ryr2 T A 13: 11,570,334 (GRCm39) T4930S possibly damaging Het
Scart2 T A 7: 139,829,036 (GRCm39) C232S probably damaging Het
Siae G A 9: 37,528,219 (GRCm39) G64D probably benign Het
Slc14a2 T C 18: 78,252,282 (GRCm39) M10V possibly damaging Het
Ssrp1 C G 2: 84,874,669 (GRCm39) D496E probably damaging Het
Steap2 A G 5: 5,725,912 (GRCm39) S371P probably damaging Het
Taf6l G A 19: 8,761,294 (GRCm39) R24W probably damaging Het
Tbkbp1 T C 11: 97,039,555 (GRCm39) Q118R probably damaging Het
Tm2d3 A G 7: 65,348,872 (GRCm39) N184D probably damaging Het
Tmprss2 A T 16: 97,392,071 (GRCm39) W131R probably null Het
Ube2d2a A G 18: 35,903,531 (GRCm39) probably benign Het
Unc13d A G 11: 115,954,480 (GRCm39) Y1043H probably benign Het
Usp34 T A 11: 23,407,975 (GRCm39) I2600K probably damaging Het
Vmn1r198 A G 13: 22,539,168 (GRCm39) Y218C probably damaging Het
Vmn2r8 T C 5: 108,950,106 (GRCm39) Y247C probably damaging Het
Wdr59 A T 8: 112,192,463 (GRCm39) N699K probably damaging Het
Zcchc2 T C 1: 105,951,402 (GRCm39) V579A probably benign Het
Zfhx3 A T 8: 109,682,623 (GRCm39) Q3354L unknown 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
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
Predicted Primers PCR Primer
(F):5'- AAGCTGAAGTGCTGACCACC -3'
(R):5'- GCAATGATAACCCTTAGACTAGTGAC -3'

Sequencing Primer
(F):5'- GTGCTGACCACCAGAGTAAGC -3'
(R):5'- GCAAGGCTCCACTTTGTAAACG -3'
Posted On 2016-10-24