Incidental Mutation 'R2038:Tln2'
ID 225321
Institutional Source Beutler Lab
Gene Symbol Tln2
Ensembl Gene ENSMUSG00000052698
Gene Name talin 2
Synonyms
MMRRC Submission 040045-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R2038 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 67124369-67466985 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 67304935 bp (GRCm39)
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]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039662
SMART Domains Protein: ENSMUSP00000035272
Gene: ENSMUSG00000052698

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 benign
Transcript: ENSMUST00000040025
SMART Domains Protein: ENSMUSP00000039633
Gene: ENSMUSG00000052698

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
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,389,762 (GRCm39) Y54C probably damaging Het
Adgrf4 A T 17: 42,978,754 (GRCm39) H196Q probably damaging Het
Astn1 T G 1: 158,484,690 (GRCm39) S918A probably benign Het
Cd79a A T 7: 24,598,782 (GRCm39) K110N probably benign Het
Cdc34b C T 11: 94,633,114 (GRCm39) Q105* probably null Het
Cdh23 T C 10: 60,148,366 (GRCm39) D2667G probably damaging Het
Clpx G A 9: 65,224,775 (GRCm39) G168R probably damaging Het
Col8a2 T C 4: 126,205,108 (GRCm39) probably benign Het
Ddx27 G A 2: 166,875,675 (GRCm39) E669K probably damaging Het
Dnah8 A T 17: 30,977,255 (GRCm39) I2898F probably damaging Het
Dus2 T C 8: 106,775,294 (GRCm39) Y274H probably damaging Het
Dync2h1 A G 9: 6,967,226 (GRCm39) S4073P probably damaging Het
Dynlrb2 G A 8: 117,241,549 (GRCm39) R31Q possibly damaging Het
Esyt1 C T 10: 128,347,820 (GRCm39) V957I probably benign Het
Fhdc1 A T 3: 84,351,868 (GRCm39) L1119Q probably benign Het
H2-T10 T C 17: 36,430,317 (GRCm39) K212E probably benign Het
H60b A T 10: 22,162,114 (GRCm39) N113I probably benign Het
Hace1 A C 10: 45,576,721 (GRCm39) K798Q probably benign Het
Hdac7 C T 15: 97,696,151 (GRCm39) R631H probably damaging Het
Kat7 T A 11: 95,190,928 (GRCm39) I153F probably benign Het
Lman1 T C 18: 66,131,681 (GRCm39) T101A probably benign Het
Mapk8 A T 14: 33,110,893 (GRCm39) C245* probably null Het
Mfhas1 T A 8: 36,058,431 (GRCm39) W969R probably damaging Het
Mlxipl A T 5: 135,135,853 (GRCm39) D26V probably damaging Het
Msh5 A G 17: 35,265,016 (GRCm39) V53A probably benign Het
Msl2 C A 9: 100,979,183 (GRCm39) A519D probably damaging Het
Nbeal1 A G 1: 60,245,503 (GRCm39) S176G probably benign Het
Ninl T A 2: 150,817,763 (GRCm39) K134* probably null Het
Or10d1 A G 9: 39,484,283 (GRCm39) S91P probably damaging Het
Or1e25 T A 11: 73,494,239 (GRCm39) Y278N probably damaging Het
Or4a68 C A 2: 89,269,689 (GRCm39) M311I probably benign Het
Pabpn1 T G 14: 55,134,609 (GRCm39) I250S probably damaging Het
Ppp4r4 G A 12: 103,542,539 (GRCm39) probably null Het
Rad51ap2 T C 12: 11,507,025 (GRCm39) S316P possibly damaging Het
Scn7a C A 2: 66,567,780 (GRCm39) W271C probably damaging Het
Set T C 2: 29,960,212 (GRCm39) S182P probably benign Het
Sez6l T C 5: 112,620,618 (GRCm39) T321A possibly damaging Het
Sfpq A T 4: 126,915,295 (GRCm39) H29L unknown Het
Slc33a1 A G 3: 63,855,577 (GRCm39) L356P probably damaging Het
Sptbn1 C G 11: 30,109,293 (GRCm39) probably null Het
Srrd C T 5: 112,486,316 (GRCm39) G179D probably benign Het
Taf4b T C 18: 14,940,456 (GRCm39) S312P probably damaging Het
Tgfbrap1 A T 1: 43,093,794 (GRCm39) L566* probably null Het
Ttc27 T C 17: 75,163,497 (GRCm39) F702L probably benign Het
Vmn2r54 C T 7: 12,363,637 (GRCm39) G419R possibly damaging Het
Vps13b A G 15: 35,884,887 (GRCm39) S3187G probably damaging Het
Vps13d C A 4: 144,907,685 (GRCm39) probably null Het
Vps35l T C 7: 118,411,097 (GRCm39) F677L probably damaging Het
Zfp568 A T 7: 29,688,507 (GRCm39) E23V probably null 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
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
Predicted Primers PCR Primer
(F):5'- AAATGTGACTAGGCATGTCCC -3'
(R):5'- ACATACAACACTCACACTGGTTCTG -3'

Sequencing Primer
(F):5'- AGGCATGTCCCTTTAGCTACAGAG -3'
(R):5'- CTCACACTGGTTCTGAGAGCAATG -3'
Posted On 2014-08-25