Incidental Mutation 'R8165:Terf2'
ID633727
Institutional Source Beutler Lab
Gene Symbol Terf2
Ensembl Gene ENSMUSG00000031921
Gene Nametelomeric repeat binding factor 2
SynonymsTRF2
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R8165 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location107069400-107096547 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107083024 bp
ZygosityHeterozygous
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]
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: 63,897,946 probably null Het
1110037F02Rik T A 4: 11,542,128 D1521E probably benign Het
Amph A G 13: 19,094,837 K161E probably benign Het
Aox2 A T 1: 58,308,929 H602L probably benign Het
Areg A G 5: 91,143,633 N145S probably damaging Het
Arhgap29 C T 3: 121,988,573 T142I probably damaging Het
Bcar3 C T 3: 122,511,156 probably benign Het
Brpf3 C T 17: 28,806,274 A107V probably benign Het
Btnl2 T A 17: 34,368,708 S509T possibly damaging Het
Cacna2d2 A G 9: 107,525,454 probably null Het
Casz1 C T 4: 148,944,431 P1111L probably damaging Het
Ccdc91 C T 6: 147,631,588 T411I unknown Het
Chd9 A C 8: 91,041,141 E2422A probably damaging Het
Clrn3 T C 7: 135,528,404 I34V probably benign Het
Cnksr3 C T 10: 7,154,467 D79N probably damaging Het
Cops8 A G 1: 90,612,007 probably null Het
Cpa2 A G 6: 30,564,346 K392R probably benign Het
Dnajc28 G A 16: 91,616,907 R150* probably null Het
Dnase1l3 T C 14: 7,994,299 probably benign Het
Fam65a C A 8: 105,620,888 L1028M unknown Het
Gdpd5 A T 7: 99,456,482 T502S probably benign Het
Gp2 A T 7: 119,450,152 D387E probably damaging Het
Gpr179 A G 11: 97,351,538 L160P probably benign Het
Hmcn1 G A 1: 150,646,658 T3497M probably benign Het
Idh3b T A 2: 130,280,500 T322S possibly damaging Het
Kit A T 5: 75,620,880 N323I possibly damaging Het
Kng2 T C 16: 22,987,496 S445G unknown Het
Lin54 A G 5: 100,454,499 V393A probably benign Het
Lyst T A 13: 13,698,360 W2715R probably damaging Het
Mad1l1 T C 5: 140,315,058 T28A probably benign Het
Med7 T A 11: 46,441,246 C223S probably benign Het
Megf8 T A 7: 25,353,873 L1823Q probably damaging Het
Mga C A 2: 119,947,238 Q1755K probably benign Het
Mgat4b A T 11: 50,210,974 N22I probably benign Het
Ndufb6 C T 4: 40,270,665 probably null Het
Neil3 A G 8: 53,589,094 L490P probably benign Het
Nek9 C T 12: 85,303,643 V886I probably benign Het
Nol4l A T 2: 153,420,553 Y366* probably null Het
Nt5dc2 A G 14: 31,138,929 T354A probably damaging Het
Olfr339 T A 2: 36,421,703 Y102N probably damaging Het
Pde2a G A 7: 101,500,448 probably null Het
Phf1 T C 17: 26,937,070 F444L possibly damaging Het
Plin4 G A 17: 56,107,019 T202I possibly damaging Het
Plk4 G C 3: 40,813,574 V851L probably damaging Het
Pp2d1 A G 17: 53,515,229 S270P probably damaging Het
Scn9a A G 2: 66,540,530 F569L probably damaging Het
Sel1l2 T A 2: 140,262,706 L306F probably damaging Het
Spic A T 10: 88,677,566 S86T probably damaging Het
Stkld1 A G 2: 26,946,656 N278S probably benign Het
Taar7d T A 10: 24,027,597 F126I probably benign Het
Tbc1d31 A G 15: 57,960,949 E869G possibly damaging Het
Tbcd C T 11: 121,493,885 T315M probably benign Het
Tex43 T A 18: 56,589,475 probably benign Het
Thsd7a T A 6: 12,468,963 T539S Het
Tll2 A G 19: 41,088,874 F818L possibly damaging Het
Tmem87a T C 2: 120,370,478 T427A possibly damaging Het
Ush2a C A 1: 188,451,755 Q1419K possibly damaging Het
Vill T A 9: 119,066,753 F511Y probably damaging Het
Vps13c A G 9: 67,858,790 D63G probably benign Het
Vrk2 A G 11: 26,535,575 F138L probably benign Het
Zfp710 T C 7: 80,086,027 I514T probably damaging Het
Zgrf1 T A 3: 127,563,383 F753I possibly damaging Het
Other mutations in Terf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02823:Terf2 APN 8 107072625 missense possibly damaging 0.89
IGL02879:Terf2 APN 8 107076697 missense probably benign 0.02
IGL03368:Terf2 APN 8 107070549 missense probably damaging 1.00
PIT1430001:Terf2 UTSW 8 107096302 missense probably damaging 0.98
R0454:Terf2 UTSW 8 107096210 nonsense probably null
R0615:Terf2 UTSW 8 107082990 missense possibly damaging 0.90
R1983:Terf2 UTSW 8 107083008 missense probably damaging 0.99
R3051:Terf2 UTSW 8 107079384 missense possibly damaging 0.88
R3053:Terf2 UTSW 8 107079384 missense possibly damaging 0.88
R4210:Terf2 UTSW 8 107079448 missense probably damaging 1.00
R4782:Terf2 UTSW 8 107076675 missense probably benign 0.00
R4799:Terf2 UTSW 8 107076675 missense probably benign 0.00
R4994:Terf2 UTSW 8 107076478 intron probably benign
R6414:Terf2 UTSW 8 107076854 missense probably benign 0.01
R6777:Terf2 UTSW 8 107070537 missense possibly damaging 0.95
R7315:Terf2 UTSW 8 107081217 missense probably benign 0.03
R7481:Terf2 UTSW 8 107072721 critical splice donor site probably null
R8396:Terf2 UTSW 8 107082981 critical splice donor site probably null
T0722:Terf2 UTSW 8 107076674 missense probably benign
Z1088:Terf2 UTSW 8 107081223 missense probably damaging 1.00
Z1177:Terf2 UTSW 8 107096295 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 On2020-07-13