Incidental Mutation 'R7869:Dner'
ID 607949
Institutional Source Beutler Lab
Gene Symbol Dner
Ensembl Gene ENSMUSG00000036766
Gene Name delta/notch-like EGF repeat containing
Synonyms BET, A930026D19Rik
MMRRC Submission 045921-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7869 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 84347560-84673942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84361602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 669 (Y669C)
Ref Sequence ENSEMBL: ENSMUSP00000042927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049126]
AlphaFold Q8JZM4
Predicted Effect probably benign
Transcript: ENSMUST00000049126
AA Change: Y669C

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766
AA Change: Y669C

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
EGF 47 92 9.85e-5 SMART
EGF 97 133 2.33e-6 SMART
EGF 306 348 1.8e1 SMART
EGF 352 390 5e-6 SMART
EGF_CA 392 428 8.97e-8 SMART
EGF 433 466 3.54e-6 SMART
EGF 471 503 4.66e-6 SMART
EGF_CA 505 541 1.61e-9 SMART
EGF 546 579 9.7e-4 SMART
EGF_CA 581 617 4.52e-13 SMART
transmembrane domain 639 661 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display delayed cerebellar development, abnormal Bergmann glial cells, abnormal Purkinje cell innervation, and impaired coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G A 5: 113,332,001 (GRCm39) R738C possibly damaging Het
Acot12 G A 13: 91,919,844 (GRCm39) V260M probably benign Het
Alkbh8 A T 9: 3,359,503 (GRCm39) H264L probably damaging Het
Arfgef2 C T 2: 166,715,623 (GRCm39) T1356I probably damaging Het
Arhgap27 A T 11: 103,251,130 (GRCm39) N199K probably damaging Het
Asic2 T C 11: 81,858,824 (GRCm39) R63G probably damaging Het
Aspa T A 11: 73,204,378 (GRCm39) M197L probably benign Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Brdt A T 5: 107,518,045 (GRCm39) I723L probably benign Het
C2cd3 T A 7: 100,118,698 (GRCm39) F2312Y probably damaging Het
Cd19 T C 7: 126,009,698 (GRCm39) N456S probably damaging Het
Ceacam1 G T 7: 25,175,954 (GRCm39) A80E probably damaging Het
Cep135 T C 5: 76,788,803 (GRCm39) V1132A probably benign Het
Cep85 A G 4: 133,859,609 (GRCm39) C687R probably damaging Het
Cln5 A G 14: 103,313,501 (GRCm39) Y251C probably damaging Het
Crygc A G 1: 65,111,014 (GRCm39) M91T possibly damaging Het
Ddt T C 10: 75,609,060 (GRCm39) K33R probably damaging Het
Dhfr G A 13: 92,494,471 (GRCm39) W58* probably null Het
Dhx40 T C 11: 86,688,532 (GRCm39) E297G probably benign Het
Dpys G T 15: 39,656,782 (GRCm39) F428L probably damaging Het
Dspp A C 5: 104,323,531 (GRCm39) T225P probably damaging Het
Elac2 A G 11: 64,890,213 (GRCm39) K656E probably damaging Het
Ern1 T A 11: 106,349,845 (GRCm39) R24* probably null Het
F2rl2 T C 13: 95,837,519 (GRCm39) I188T probably damaging Het
Fam83b C T 9: 76,399,426 (GRCm39) C559Y possibly damaging Het
Fat1 T G 8: 45,504,259 (GRCm39) F4584C probably benign Het
Gabra6 G A 11: 42,207,322 (GRCm39) T254I possibly damaging Het
Garem1 T C 18: 21,432,757 (GRCm39) D24G probably damaging Het
Gas2l2 A T 11: 83,312,816 (GRCm39) L832* probably null Het
Gpr68 C T 12: 100,845,497 (GRCm39) D16N probably benign Het
Il17b T C 18: 61,825,480 (GRCm39) I172T probably damaging Het
Ildr2 T G 1: 166,136,861 (GRCm39) S567A probably benign Het
Kalrn A G 16: 33,809,217 (GRCm39) V2557A probably damaging Het
Kif1b A G 4: 149,268,833 (GRCm39) S1627P probably benign Het
Kif5a G A 10: 127,079,343 (GRCm39) T285M probably damaging Het
Lrif1 G A 3: 106,640,459 (GRCm39) probably null Het
Lrrn2 C T 1: 132,867,116 (GRCm39) T727I unknown Het
Lsg1 T C 16: 30,383,540 (GRCm39) E560G probably benign Het
Map4k4 C A 1: 40,013,204 (GRCm39) Q100K unknown Het
Mipep A T 14: 61,040,385 (GRCm39) R302W probably damaging Het
Morf4l1 G T 9: 89,975,844 (GRCm39) T316K probably damaging Het
Mov10 A T 3: 104,711,994 (GRCm39) V126E probably damaging Het
Muc2 T A 7: 141,303,471 (GRCm39) C559S Het
Myh7 A G 14: 55,226,530 (GRCm39) Y410H probably damaging Het
Nf1 T A 11: 79,309,414 (GRCm39) Y433N probably damaging Het
Nmd3 T C 3: 69,633,750 (GRCm39) L79P probably damaging Het
Nol10 G T 12: 17,408,239 (GRCm39) S155I probably null Het
Or2n1 T C 17: 38,486,830 (GRCm39) L285P possibly damaging Het
Or4p8 T C 2: 88,727,408 (GRCm39) I178V probably benign Het
Or52n2c T A 7: 104,574,311 (GRCm39) Y220F probably damaging Het
Or5b12 A G 19: 12,896,911 (GRCm39) I254T probably benign Het
Pde3b T C 7: 114,093,922 (GRCm39) S389P probably benign Het
Polr1c C T 17: 46,555,817 (GRCm39) G188D probably benign Het
Prpf31 A G 7: 3,633,859 (GRCm39) M65V probably benign Het
Pum2 A G 12: 8,763,595 (GRCm39) T251A probably benign Het
Rabgap1 G A 2: 37,377,142 (GRCm39) V325I probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rpl15 G T 14: 18,269,017 (GRCm38) Y203* probably null Het
Sac3d1 G A 19: 6,168,456 (GRCm39) P54L possibly damaging Het
Serpina3g A G 12: 104,206,510 (GRCm39) I104V probably benign Het
Setd2 C T 9: 110,379,082 (GRCm39) Q966* probably null Het
Simc1 G T 13: 54,651,713 (GRCm39) D9Y unknown Het
Slc5a8 T C 10: 88,757,567 (GRCm39) L519S probably benign Het
Srcap C A 7: 127,138,366 (GRCm39) Q1179K possibly damaging Het
Srd5a3 T C 5: 76,295,583 (GRCm39) L91P probably damaging Het
Stab1 T C 14: 30,876,429 (GRCm39) T887A probably benign Het
Sult2a6 A G 7: 13,988,737 (GRCm39) F8L not run Het
Thsd7a A T 6: 12,471,123 (GRCm39) C498* probably null Het
Timp4 T C 6: 115,227,355 (GRCm39) I75V probably benign Het
Tspyl4 T A 10: 34,174,096 (GRCm39) M196K probably damaging Het
Ubr2 T C 17: 47,301,934 (GRCm39) E172G probably benign Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Unc13c T G 9: 73,602,159 (GRCm39) L1362F probably damaging Het
Vmn2r11 A G 5: 109,199,986 (GRCm39) V489A probably damaging Het
Vps39 T C 2: 120,169,875 (GRCm39) T226A possibly damaging Het
Zan C T 5: 137,471,863 (GRCm39) E185K probably damaging Het
Other mutations in Dner
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Dner APN 1 84,361,731 (GRCm39) missense probably benign 0.13
IGL02251:Dner APN 1 84,361,747 (GRCm39) missense probably damaging 1.00
IGL02904:Dner APN 1 84,512,665 (GRCm39) missense probably damaging 0.96
IGL03063:Dner APN 1 84,563,059 (GRCm39) missense possibly damaging 0.90
R0013:Dner UTSW 1 84,472,614 (GRCm39) splice site probably benign
R0112:Dner UTSW 1 84,560,774 (GRCm39) missense probably benign 0.06
R0196:Dner UTSW 1 84,348,553 (GRCm39) missense probably damaging 1.00
R0282:Dner UTSW 1 84,423,101 (GRCm39) splice site probably benign
R0282:Dner UTSW 1 84,383,686 (GRCm39) missense probably damaging 1.00
R0942:Dner UTSW 1 84,563,030 (GRCm39) splice site probably benign
R1143:Dner UTSW 1 84,423,185 (GRCm39) missense probably damaging 1.00
R1483:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R1585:Dner UTSW 1 84,563,177 (GRCm39) missense probably benign 0.05
R1636:Dner UTSW 1 84,563,051 (GRCm39) missense possibly damaging 0.89
R1739:Dner UTSW 1 84,348,505 (GRCm39) missense probably damaging 0.99
R1756:Dner UTSW 1 84,423,311 (GRCm39) missense probably damaging 0.98
R1960:Dner UTSW 1 84,423,177 (GRCm39) missense probably damaging 0.98
R2061:Dner UTSW 1 84,383,710 (GRCm39) missense probably damaging 1.00
R2157:Dner UTSW 1 84,361,659 (GRCm39) missense possibly damaging 0.88
R2265:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R2382:Dner UTSW 1 84,348,544 (GRCm39) missense probably damaging 1.00
R2507:Dner UTSW 1 84,560,801 (GRCm39) missense probably damaging 1.00
R3053:Dner UTSW 1 84,361,747 (GRCm39) missense probably damaging 1.00
R3917:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R4530:Dner UTSW 1 84,560,736 (GRCm39) missense probably damaging 1.00
R4552:Dner UTSW 1 84,361,578 (GRCm39) missense probably damaging 1.00
R4579:Dner UTSW 1 84,361,537 (GRCm39) missense probably damaging 0.97
R4593:Dner UTSW 1 84,673,449 (GRCm39) start codon destroyed probably null
R4711:Dner UTSW 1 84,361,618 (GRCm39) missense possibly damaging 0.75
R5102:Dner UTSW 1 84,383,691 (GRCm39) missense probably damaging 1.00
R5314:Dner UTSW 1 84,558,460 (GRCm39) missense probably damaging 1.00
R5370:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R6000:Dner UTSW 1 84,361,650 (GRCm39) missense possibly damaging 0.80
R6644:Dner UTSW 1 84,373,428 (GRCm39) missense probably damaging 1.00
R6764:Dner UTSW 1 84,472,502 (GRCm39) missense probably damaging 1.00
R6948:Dner UTSW 1 84,383,738 (GRCm39) missense probably damaging 1.00
R6991:Dner UTSW 1 84,454,123 (GRCm39) nonsense probably null
R7056:Dner UTSW 1 84,558,457 (GRCm39) missense possibly damaging 0.75
R7410:Dner UTSW 1 84,563,332 (GRCm39) missense probably damaging 1.00
R7490:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R7938:Dner UTSW 1 84,673,218 (GRCm39) missense possibly damaging 0.62
R8253:Dner UTSW 1 84,512,598 (GRCm39) missense probably damaging 1.00
R9016:Dner UTSW 1 84,673,226 (GRCm39) missense probably benign 0.05
R9170:Dner UTSW 1 84,512,647 (GRCm39) missense probably damaging 1.00
R9254:Dner UTSW 1 84,673,193 (GRCm39) missense probably benign 0.03
R9763:Dner UTSW 1 84,361,656 (GRCm39) missense possibly damaging 0.75
Z1176:Dner UTSW 1 84,361,701 (GRCm39) missense possibly damaging 0.88
Z1177:Dner UTSW 1 84,423,154 (GRCm39) missense probably damaging 0.99
Z1177:Dner UTSW 1 84,423,151 (GRCm39) missense probably damaging 1.00
Z1177:Dner UTSW 1 84,383,710 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTGTTTAAGACCCGCCCC -3'
(R):5'- GCATGCTAACCGCTACAATTC -3'

Sequencing Primer
(F):5'- TGAAGTCCTAGTGATAGCATCGCC -3'
(R):5'- ATGCTAACCGCTACAATTCCTTCTC -3'
Posted On 2019-12-20