Incidental Mutation 'R0446:Emx2'
ID 39418
Institutional Source Beutler Lab
Gene Symbol Emx2
Ensembl Gene ENSMUSG00000043969
Gene Name empty spiracles homeobox 2
Synonyms Pdo
MMRRC Submission 038647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0446 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 59447122-59453789 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 59452348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 211 (K211*)
Ref Sequence ENSEMBL: ENSMUSP00000053361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062216] [ENSMUST00000174353]
AlphaFold Q04744
Predicted Effect probably null
Transcript: ENSMUST00000062216
AA Change: K211*
SMART Domains Protein: ENSMUSP00000053361
Gene: ENSMUSG00000043969
AA Change: K211*

DomainStartEndE-ValueType
low complexity region 76 109 N/A INTRINSIC
HOX 155 217 1.32e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000174353
AA Change: Q48L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174573
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous disruption of this gene causes neonatal death, impaired urogenital development and malformation of several forebrain regions. Heterozygotes for a null allele show middle and inner ear defects. Homozygotes for an ENU-induced allele die neonatally with middle ear defects and small kidneys. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,971,766 (GRCm39) T42A probably benign Het
Actr3b T A 5: 26,036,730 (GRCm39) I181K probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
B3galt4 T C 17: 34,169,992 (GRCm39) E82G probably benign Het
Bag1 G A 4: 40,936,609 (GRCm39) T349I probably benign Het
Brip1 A T 11: 86,048,427 (GRCm39) L305Q probably damaging Het
Cdipt A G 7: 126,577,436 (GRCm39) T61A probably damaging Het
Cmya5 T A 13: 93,230,164 (GRCm39) R1641S probably benign Het
Cog7 T C 7: 121,536,295 (GRCm39) D515G probably benign Het
Cpsf4 T A 5: 145,114,054 (GRCm39) L171Q probably damaging Het
Cstpp1 G A 2: 91,135,109 (GRCm39) T20I possibly damaging Het
Cuzd1 A T 7: 130,918,009 (GRCm39) probably null Het
Dapk1 T A 13: 60,873,101 (GRCm39) probably null Het
Diaph1 A G 18: 37,986,643 (GRCm39) V1114A possibly damaging Het
Fam170a T A 18: 50,413,699 (GRCm39) C55S possibly damaging Het
Fbxw26 A G 9: 109,572,788 (GRCm39) S119P probably benign Het
Fhip2a G A 19: 57,369,839 (GRCm39) D461N probably benign Het
Fryl G A 5: 73,254,760 (GRCm39) T894M possibly damaging Het
Gad1-ps C A 10: 99,281,383 (GRCm39) noncoding transcript Het
Gss T C 2: 155,409,665 (GRCm39) E257G probably benign Het
Klhdc1 A C 12: 69,330,082 (GRCm39) S404R probably benign Het
Kmt2e T A 5: 23,702,532 (GRCm39) probably null Het
Krt20 G A 11: 99,328,602 (GRCm39) Q108* probably null Het
Lmnb1 T A 18: 56,876,331 (GRCm39) S480T probably benign Het
Lyst T A 13: 13,812,633 (GRCm39) M1015K probably benign Het
Mdm1 T G 10: 117,987,961 (GRCm39) S290A probably benign Het
Mkln1 T A 6: 31,426,439 (GRCm39) F238I probably damaging Het
Mrgprb3 A G 7: 48,292,984 (GRCm39) V189A probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Neurod6 C T 6: 55,656,614 (GRCm39) E8K probably benign Het
Nlrp12 T C 7: 3,282,659 (GRCm39) I747V probably benign Het
Notch4 C T 17: 34,784,337 (GRCm39) R43W possibly damaging Het
Obscn A T 11: 58,886,238 (GRCm39) probably benign Het
Or10d3 A T 9: 39,461,747 (GRCm39) I140N probably damaging Het
Or5p57 A T 7: 107,665,932 (GRCm39) Y24* probably null Het
Or5w20 T C 2: 87,727,199 (GRCm39) Y219H possibly damaging Het
Or6ae1 A T 7: 139,742,384 (GRCm39) S160T probably damaging Het
Or6z5 T C 7: 6,478,024 (GRCm39) V305A probably benign Het
Or8b53 G T 9: 38,667,114 (GRCm39) L43F probably damaging Het
Orc5 C T 5: 22,751,455 (GRCm39) V85I probably benign Het
Pccb T C 9: 100,864,850 (GRCm39) D468G probably damaging Het
Pdzd2 A T 15: 12,375,110 (GRCm39) V1675E probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pltp A T 2: 164,696,320 (GRCm39) N97K probably damaging Het
Polr1a T C 6: 71,927,648 (GRCm39) probably null Het
Prss42 G A 9: 110,628,341 (GRCm39) V162I possibly damaging Het
Rbfox2 A T 15: 76,983,455 (GRCm39) Y269N probably damaging Het
Rftn2 A T 1: 55,253,354 (GRCm39) I83K probably damaging Het
S1pr4 A T 10: 81,334,823 (GRCm39) I217N probably damaging Het
Slc23a2 T C 2: 131,920,353 (GRCm39) K184R probably benign Het
Slc6a19 T C 13: 73,839,814 (GRCm39) N156S probably benign Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tbc1d32 T A 10: 56,068,994 (GRCm39) H358L possibly damaging Het
Tex55 G A 16: 38,649,064 (GRCm39) T15I probably benign Het
Tigit G T 16: 43,482,634 (GRCm39) N33K probably damaging Het
Tmem25 T C 9: 44,707,878 (GRCm39) Y139C probably damaging Het
Trmt13 G A 3: 116,376,275 (GRCm39) T372M probably damaging Het
Ubr2 A T 17: 47,294,224 (GRCm39) M303K probably damaging Het
Usp34 A G 11: 23,417,207 (GRCm39) E2952G probably damaging Het
Zan T A 5: 137,389,920 (GRCm39) I4851F unknown Het
Zfand4 C T 6: 116,265,015 (GRCm39) T160I probably benign Het
Zfp1005 A G 2: 150,109,993 (GRCm39) T228A possibly damaging Het
Other mutations in Emx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Emx2 APN 19 59,448,021 (GRCm39) missense possibly damaging 0.83
IGL02103:Emx2 APN 19 59,450,130 (GRCm39) missense probably benign 0.22
R0631:Emx2 UTSW 19 59,452,460 (GRCm39) missense probably damaging 1.00
R1194:Emx2 UTSW 19 59,447,984 (GRCm39) nonsense probably null
R1512:Emx2 UTSW 19 59,448,035 (GRCm39) missense possibly damaging 0.95
R1526:Emx2 UTSW 19 59,452,442 (GRCm39) missense probably benign 0.05
R2019:Emx2 UTSW 19 59,447,771 (GRCm39) missense probably benign
R2066:Emx2 UTSW 19 59,450,130 (GRCm39) missense probably benign 0.01
R2133:Emx2 UTSW 19 59,452,465 (GRCm39) missense probably damaging 0.99
R4977:Emx2 UTSW 19 59,447,678 (GRCm39) missense probably damaging 1.00
R5884:Emx2 UTSW 19 59,452,461 (GRCm39) missense probably damaging 1.00
R8823:Emx2 UTSW 19 59,447,880 (GRCm39) missense probably damaging 1.00
R9644:Emx2 UTSW 19 59,452,427 (GRCm39) missense probably benign 0.20
R9799:Emx2 UTSW 19 59,448,036 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGAAACGGCCATACTTTGGGCAC -3'
(R):5'- TTGCATGTTGATGATCGGGCCTCC -3'

Sequencing Primer
(F):5'- CTTGCTCTCAGAGGGAAGG -3'
(R):5'- TGTCCAAAGTCTGCTGCGAG -3'
Posted On 2013-05-23