Incidental Mutation 'R7481:Terf2'
ID 579814
Institutional Source Beutler Lab
Gene Symbol Terf2
Ensembl Gene ENSMUSG00000031921
Gene Name telomeric repeat binding factor 2
Synonyms TRF2
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 107796032-107823179 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 107799353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068388] [ENSMUST00000068421] [ENSMUST00000116425] [ENSMUST00000133925]
AlphaFold O35144
Predicted Effect probably null
Transcript: ENSMUST00000068388
SMART Domains Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921

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
SMART Domains Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921

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 probably benign
Transcript: ENSMUST00000116425
SMART Domains Protein: ENSMUSP00000112126
Gene: ENSMUSG00000031921

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 probably benign
Transcript: ENSMUST00000133925
SMART Domains Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921

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 probably benign
Transcript: ENSMUST00000142616
SMART Domains Protein: ENSMUSP00000118589
Gene: ENSMUSG00000031921

DomainStartEndE-ValueType
Pfam:TRF 1 178 2.6e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N probably benign 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
R8165:Terf2 UTSW 8 107,809,656 (GRCm39) missense possibly damaging 0.83
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'- CCTGACAGTTACCATGCGTC -3'
(R):5'- GCTCAGAGTGTCACCCTATC -3'

Sequencing Primer
(F):5'- AACATCTGCAGGAGGGCTTACC -3'
(R):5'- TCAGAGTGTCACCCTATCTAAAAAC -3'
Posted On 2019-10-07