Incidental Mutation 'R7056:Dner'
ID 547894
Institutional Source Beutler Lab
Gene Symbol Dner
Ensembl Gene ENSMUSG00000036766
Gene Name delta/notch-like EGF repeat containing
Synonyms BET, A930026D19Rik
MMRRC Submission 045153-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7056 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 84347560-84673942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84558457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 169 (R169L)
Ref Sequence ENSEMBL: ENSMUSP00000140986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049126] [ENSMUST00000185606] [ENSMUST00000191546]
AlphaFold Q8JZM4
Predicted Effect probably benign
Transcript: ENSMUST00000049126
AA Change: R256L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766
AA Change: R256L

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000185606
AA Change: R169L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140986
Gene: ENSMUSG00000036766
AA Change: R169L

DomainStartEndE-ValueType
EGF 10 46 1.1e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191546
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr T A 9: 95,744,916 (GRCm39) S78T probably damaging Het
B2m T C 2: 121,981,465 (GRCm39) L60P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cep350 A C 1: 155,724,373 (GRCm39) I3075S probably damaging Het
Cep97 A G 16: 55,725,935 (GRCm39) S651P probably damaging Het
Chrna5 C T 9: 54,888,985 (GRCm39) probably benign Het
Cog5 T C 12: 31,715,468 (GRCm39) V80A possibly damaging Het
Col9a2 G A 4: 120,906,913 (GRCm39) probably null Het
Cop1 C T 1: 159,077,647 (GRCm39) L161F probably damaging Het
Cyp4f17 A T 17: 32,746,846 (GRCm39) M383L possibly damaging Het
Dennd4a A G 9: 64,814,205 (GRCm39) D1474G possibly damaging Het
Dgkb A C 12: 38,150,492 (GRCm39) S100R probably benign Het
Dnah17 A G 11: 118,016,212 (GRCm39) V309A probably benign Het
Dus1l T C 11: 120,682,120 (GRCm39) E362G probably benign Het
Eed A T 7: 89,619,564 (GRCm39) S168T possibly damaging Het
Eif3a T A 19: 60,751,500 (GRCm39) probably null Het
Fam234b A G 6: 135,205,450 (GRCm39) S472G probably benign Het
Fbn2 T A 18: 58,209,798 (GRCm39) T1028S probably benign Het
Fbxw16 A G 9: 109,265,352 (GRCm39) V393A possibly damaging Het
Fig4 A T 10: 41,096,928 (GRCm39) L838Q probably benign Het
Gm13941 T G 2: 110,927,147 (GRCm39) S137R unknown Het
Gm9938 T G 19: 23,701,981 (GRCm39) probably benign Het
Igsf10 T G 3: 59,238,501 (GRCm39) D560A probably damaging Het
Lrrk2 T A 15: 91,659,198 (GRCm39) L1870* probably null Het
Mep1b T A 18: 21,224,247 (GRCm39) Y347N probably damaging Het
Mepce T C 5: 137,780,968 (GRCm39) N613D probably damaging Het
Mgat3 T G 15: 80,096,097 (GRCm39) L308R probably damaging Het
Morc2a A G 11: 3,625,925 (GRCm39) Y175C probably damaging Het
Necab2 A G 8: 120,178,878 (GRCm39) N98S probably benign Het
Net1 T C 13: 3,934,845 (GRCm39) M394V probably benign Het
Nfat5 G A 8: 108,094,738 (GRCm39) G993D probably damaging Het
Obscn C A 11: 58,887,122 (GRCm39) probably benign Het
Olr1 T C 6: 129,465,904 (GRCm39) H34R probably damaging Het
Or2ab1 A G 11: 58,489,044 (GRCm39) Y274C probably damaging Het
Or4f60 T C 2: 111,902,662 (GRCm39) N89D probably benign Het
Pmm2 T A 16: 8,460,628 (GRCm39) F27L probably damaging Het
Ptpdc1 C A 13: 48,740,466 (GRCm39) V261F possibly damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Radil A T 5: 142,480,109 (GRCm39) C670* probably null Het
Rasgrf2 C T 13: 92,167,203 (GRCm39) S290N probably damaging Het
Rbm33 T C 5: 28,599,001 (GRCm39) probably benign Het
Rnf111 A T 9: 70,360,957 (GRCm39) S501R possibly damaging Het
Sel1l2 T A 2: 140,087,334 (GRCm39) I446F probably benign Het
Sh3pxd2b T C 11: 32,372,737 (GRCm39) S635P probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Smg1 T C 7: 117,745,623 (GRCm39) probably benign Het
Sorcs2 C A 5: 36,225,474 (GRCm39) D132Y probably damaging Het
Sox18 T C 2: 181,313,280 (GRCm39) D12G probably damaging Het
Srsf4 G T 4: 131,628,004 (GRCm39) probably benign Het
Susd4 C A 1: 182,660,721 (GRCm39) T81N probably benign Het
Tmem256 G T 11: 69,729,416 (GRCm39) probably benign Het
Tor4a T C 2: 25,084,853 (GRCm39) H350R probably benign Het
Ugt2a3 T A 5: 87,484,953 (GRCm39) S24C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r77 C T 7: 86,451,023 (GRCm39) T303I probably benign Het
Wdr70 T A 15: 7,913,877 (GRCm39) I591F possibly damaging Het
Wdr93 T C 7: 79,399,088 (GRCm39) I74T probably damaging Het
Zfp292 A T 4: 34,809,784 (GRCm39) C1087S probably damaging Het
Zfp592 T A 7: 80,673,067 (GRCm39) D10E probably damaging Het
Zfp69 A G 4: 120,788,295 (GRCm39) V340A probably benign Het
Zswim2 C T 2: 83,751,092 (GRCm39) probably null 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
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
R7869:Dner UTSW 1 84,361,602 (GRCm39) missense probably benign 0.10
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'- TACAGTCGCACCGGAAATGC -3'
(R):5'- TCATCTCGAATCTGGTGAATTGG -3'

Sequencing Primer
(F):5'- TCGCACCGGAAATGCTAGTG -3'
(R):5'- CTCGAATCTGGTGAATTGGTTCTAC -3'
Posted On 2019-05-13