Incidental Mutation 'R8165:Terf2'
ID 633727
Institutional Source Beutler Lab
Gene Symbol Terf2
Ensembl Gene ENSMUSG00000031921
Gene Name telomeric repeat binding factor 2
Synonyms TRF2
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 107796032-107823179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107809656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 221 (K221E)
Ref Sequence ENSEMBL: ENSMUSP00000118759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068388] [ENSMUST00000068421] [ENSMUST00000116425] [ENSMUST00000133925]
AlphaFold O35144
Predicted Effect probably benign
Transcript: ENSMUST00000068388
AA Change: K221E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921
AA Change: K221E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 297 7.5e-39 PFAM
PDB:3K6G|F 318 356 2e-12 PDB
SANT 422 473 1.71e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068421
AA Change: K221E

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: K221E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 296 3e-38 PFAM
Pfam:TERF2_RBM 320 360 5.1e-22 PFAM
SANT 487 538 1.71e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000116425
AA Change: K221E

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112126
Gene: ENSMUSG00000031921
AA Change: K221E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 297 1.5e-38 PFAM
PDB:3K6G|F 319 359 4e-14 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000133925
AA Change: K221E

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: K221E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 297 9.9e-39 PFAM
PDB:3K6G|F 318 358 3e-14 PDB
SANT 486 537 1.71e-12 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000118589
Gene: ENSMUSG00000031921
AA Change: K114E

DomainStartEndE-ValueType
Pfam:TRF 1 178 2.6e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Bcar3 C T 3: 122,304,805 (GRCm39) probably benign Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Mad1l1 T C 5: 140,300,813 (GRCm39) T28A probably benign Het
Med7 T A 11: 46,332,073 (GRCm39) C223S probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Mgat4b A T 11: 50,101,801 (GRCm39) N22I probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plin4 G A 17: 56,414,019 (GRCm39) T202I possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Ripor1 C A 8: 106,347,520 (GRCm39) L1028M unknown Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Sel1l2 T A 2: 140,104,626 (GRCm39) L306F probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Vill T A 9: 118,895,821 (GRCm39) F511Y probably damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly damaging Het
Other mutations in Terf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02823:Terf2 APN 8 107,799,257 (GRCm39) missense possibly damaging 0.89
IGL02879:Terf2 APN 8 107,803,329 (GRCm39) missense probably benign 0.02
IGL03368:Terf2 APN 8 107,797,181 (GRCm39) missense probably damaging 1.00
PIT1430001:Terf2 UTSW 8 107,822,934 (GRCm39) missense probably damaging 0.98
R0454:Terf2 UTSW 8 107,822,842 (GRCm39) nonsense probably null
R0615:Terf2 UTSW 8 107,809,622 (GRCm39) missense possibly damaging 0.90
R1983:Terf2 UTSW 8 107,809,640 (GRCm39) missense probably damaging 0.99
R3051:Terf2 UTSW 8 107,806,016 (GRCm39) missense possibly damaging 0.88
R3053:Terf2 UTSW 8 107,806,016 (GRCm39) missense possibly damaging 0.88
R4210:Terf2 UTSW 8 107,806,080 (GRCm39) missense probably damaging 1.00
R4782:Terf2 UTSW 8 107,803,307 (GRCm39) missense probably benign 0.00
R4799:Terf2 UTSW 8 107,803,307 (GRCm39) missense probably benign 0.00
R4994:Terf2 UTSW 8 107,803,110 (GRCm39) intron probably benign
R6414:Terf2 UTSW 8 107,803,486 (GRCm39) missense probably benign 0.01
R6777:Terf2 UTSW 8 107,797,169 (GRCm39) missense possibly damaging 0.95
R7315:Terf2 UTSW 8 107,807,849 (GRCm39) missense probably benign 0.03
R7481:Terf2 UTSW 8 107,799,353 (GRCm39) critical splice donor site probably null
R8396:Terf2 UTSW 8 107,809,613 (GRCm39) critical splice donor site probably null
R9438:Terf2 UTSW 8 107,803,504 (GRCm39) missense probably benign 0.45
R9688:Terf2 UTSW 8 107,821,543 (GRCm39) missense probably damaging 1.00
T0722:Terf2 UTSW 8 107,803,306 (GRCm39) missense probably benign
Z1088:Terf2 UTSW 8 107,807,855 (GRCm39) missense probably damaging 1.00
Z1177:Terf2 UTSW 8 107,822,927 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGATGCTGGGTATTTAAAGGTGAC -3'
(R):5'- CAGGCATTTGATACAGTGTGAAG -3'

Sequencing Primer
(F):5'- TGGACCGCACTATGTAGACCAG -3'
(R):5'- GCATTTGATACAGTGTGAAGACAGTC -3'
Posted On 2020-07-13