Incidental Mutation 'R2885:Dlx2'
ID 260996
Institutional Source Beutler Lab
Gene Symbol Dlx2
Ensembl Gene ENSMUSG00000023391
Gene Name distal-less homeobox 2
Synonyms DII A, Tes-1, Dlx-2
MMRRC Submission 040473-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R2885 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 71373752-71377095 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 71375808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 172 (R172*)
Ref Sequence ENSEMBL: ENSMUSP00000024159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024159]
AlphaFold P40764
Predicted Effect probably null
Transcript: ENSMUST00000024159
AA Change: R172*
SMART Domains Protein: ENSMUSP00000024159
Gene: ENSMUSG00000023391
AA Change: R172*

DomainStartEndE-ValueType
low complexity region 29 49 N/A INTRINSIC
Pfam:DLL_N 54 135 6.1e-21 PFAM
HOX 155 217 7.35e-25 SMART
low complexity region 227 243 N/A INTRINSIC
low complexity region 253 277 N/A INTRINSIC
low complexity region 310 324 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134249
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show morphogenetic abnormalities in first and second branchial arch-derived proximal skeletal and soft tissue structures; in double mutants with a Dlx1 null allele, maxillary molar teeth are missing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 A G 7: 80,749,940 (GRCm39) S1453G probably damaging Het
Arhgap27 T C 11: 103,251,669 (GRCm39) probably null Het
Casp1 A T 9: 5,299,851 (GRCm39) H108L probably benign Het
Cerk A G 15: 86,027,084 (GRCm39) F142S probably damaging Het
Cmip A G 8: 118,111,704 (GRCm39) N145S probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyp4b1 C T 4: 115,492,849 (GRCm39) D287N probably damaging Het
Dnah11 G A 12: 117,951,162 (GRCm39) Q1145* probably null Het
Dock2 A T 11: 34,580,593 (GRCm39) I659N probably damaging Het
Dync2h1 G C 9: 7,102,329 (GRCm39) F2690L probably damaging Het
Fcrl5 A G 3: 87,364,698 (GRCm39) Y566C probably damaging Het
Ift57 T C 16: 49,584,114 (GRCm39) V289A probably damaging Het
Lrrc46 G A 11: 96,925,806 (GRCm39) R219C probably damaging Het
Mapk1 A G 16: 16,844,309 (GRCm39) N269S probably benign Het
Mrgprb1 A T 7: 48,097,469 (GRCm39) Y148N probably damaging Het
Mzt2 G T 16: 15,680,780 (GRCm39) A3E unknown Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Obscn A T 11: 58,977,574 (GRCm39) V1959E probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Phf12 T C 11: 77,914,595 (GRCm39) I130T possibly damaging Het
Plekhg3 T C 12: 76,611,735 (GRCm39) V338A probably benign Het
Prl3b1 A T 13: 27,433,505 (GRCm39) N220I probably damaging Het
Rusc2 A G 4: 43,415,456 (GRCm39) Q254R probably benign Het
Ryr1 G T 7: 28,774,223 (GRCm39) R2404S probably damaging Het
Setdb1 A G 3: 95,247,506 (GRCm39) I463T probably benign Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Siglec1 A G 2: 130,914,667 (GRCm39) F1483S possibly damaging Het
Sis G A 3: 72,816,506 (GRCm39) P1515S probably benign Het
Sit1 C T 4: 43,483,314 (GRCm39) R50H possibly damaging Het
Smc6 T C 12: 11,326,294 (GRCm39) V97A probably damaging Het
Ttc39d A G 17: 80,524,144 (GRCm39) S268G probably benign Het
Ube2frt A G 12: 36,140,574 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r60 T A 7: 41,790,403 (GRCm39) D463E possibly damaging Het
Vmn2r91 A T 17: 18,325,628 (GRCm39) Y82F probably benign Het
Zfp709 A T 8: 72,643,549 (GRCm39) D325V probably benign Het
Znrf3 A T 11: 5,239,693 (GRCm39) D58E probably damaging Het
Other mutations in Dlx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0834:Dlx2 UTSW 2 71,375,859 (GRCm39) missense probably damaging 0.97
R0938:Dlx2 UTSW 2 71,375,012 (GRCm39) missense possibly damaging 0.93
R1925:Dlx2 UTSW 2 71,376,522 (GRCm39) missense probably benign 0.07
R2443:Dlx2 UTSW 2 71,376,349 (GRCm39) missense probably benign 0.01
R5059:Dlx2 UTSW 2 71,376,585 (GRCm39) missense probably damaging 0.99
R5554:Dlx2 UTSW 2 71,375,805 (GRCm39) missense possibly damaging 0.95
R6702:Dlx2 UTSW 2 71,376,571 (GRCm39) missense probably damaging 1.00
R6738:Dlx2 UTSW 2 71,376,406 (GRCm39) missense probably benign 0.04
R7261:Dlx2 UTSW 2 71,375,019 (GRCm39) missense probably damaging 0.99
R8439:Dlx2 UTSW 2 71,375,882 (GRCm39) missense possibly damaging 0.83
R8971:Dlx2 UTSW 2 71,376,716 (GRCm39) missense possibly damaging 0.92
R9674:Dlx2 UTSW 2 71,376,496 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- TTGTTTTAAGCATTGGGCCTAGAAG -3'
(R):5'- CTCAAGTCTCTAAAGGCCTCCG -3'

Sequencing Primer
(F):5'- AGCATTGGGCCTAGAAGTTTAC -3'
(R):5'- CCGCTCCGAACTTTAGGAC -3'
Posted On 2015-01-23