Incidental Mutation 'R8823:Emx2'
ID 673300
Institutional Source Beutler Lab
Gene Symbol Emx2
Ensembl Gene ENSMUSG00000043969
Gene Name empty spiracles homeobox 2
Synonyms Pdo
MMRRC Submission 068656-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8823 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 59447122-59453789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59447880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 78 (H78R)
Ref Sequence ENSEMBL: ENSMUSP00000053361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062216] [ENSMUST00000174353]
AlphaFold Q04744
Predicted Effect probably damaging
Transcript: ENSMUST00000062216
AA Change: H78R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053361
Gene: ENSMUSG00000043969
AA Change: H78R

DomainStartEndE-ValueType
low complexity region 76 109 N/A INTRINSIC
HOX 155 217 1.32e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174353
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (46/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 T A 8: 41,133,228 (GRCm39) I232K probably benign Het
Ap5z1 T C 5: 142,460,191 (GRCm39) L506P probably benign Het
Atg5lrt A T 10: 95,972,633 (GRCm39) I57F possibly damaging Het
Ceacam20 A T 7: 19,705,429 (GRCm39) Y140F probably damaging Het
Chfr G A 5: 110,300,258 (GRCm39) R334H probably damaging Het
Etnppl G A 3: 130,420,195 (GRCm39) G204R probably damaging Het
Fah A G 7: 84,254,925 (GRCm39) F3L possibly damaging Het
Galnt12 G T 4: 47,091,928 (GRCm39) probably benign Het
Gbx1 A G 5: 24,710,051 (GRCm39) S265P probably damaging Het
Gm17087 A G 17: 8,785,233 (GRCm39) *157R probably null Het
Grin2a T A 16: 9,487,758 (GRCm39) N380I possibly damaging Het
Grip1 C T 10: 119,811,856 (GRCm39) T269I Het
Hace1 T C 10: 45,524,956 (GRCm39) Y241H probably damaging Het
Hrc A G 7: 44,985,722 (GRCm39) D291G possibly damaging Het
Ifi208 A G 1: 173,511,102 (GRCm39) Y419C probably damaging Het
Ighv8-5 A G 12: 115,031,267 (GRCm39) S91P probably damaging Het
Igkv15-103 T C 6: 68,414,855 (GRCm39) L98P probably damaging Het
Igsf5 C T 16: 96,222,939 (GRCm39) S61L possibly damaging Het
Ipo9 A G 1: 135,347,077 (GRCm39) W138R probably damaging Het
Kank4 A T 4: 98,668,240 (GRCm39) L69Q probably damaging Het
Kcnd3 T C 3: 105,574,330 (GRCm39) I505T probably benign Het
Lrtm2 T A 6: 119,294,193 (GRCm39) I313F probably damaging Het
Mug2 A T 6: 122,040,648 (GRCm39) I733F possibly damaging Het
Myh2 A T 11: 67,076,300 (GRCm39) R800S probably damaging Het
Myo1d A T 11: 80,492,571 (GRCm39) I728N possibly damaging Het
Or10a3n A G 7: 108,493,155 (GRCm39) I158T probably benign Het
Pdcd1 T C 1: 93,969,220 (GRCm39) R33G probably benign Het
Polr1b T C 2: 128,967,457 (GRCm39) F950S probably damaging Het
Prpf8 T A 11: 75,384,282 (GRCm39) M697K probably benign Het
Psmc2 T A 5: 22,005,574 (GRCm39) D218E probably damaging Het
Ptpn12 A G 5: 21,203,621 (GRCm39) Y386H probably damaging Het
Rilpl2 C T 5: 124,606,716 (GRCm39) R166K possibly damaging Het
Rtn4 T A 11: 29,656,609 (GRCm39) N254K probably benign Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sesn3 T A 9: 14,221,536 (GRCm39) probably benign Het
Slc35b2 T A 17: 45,877,894 (GRCm39) H291Q probably damaging Het
Slc38a3 A C 9: 107,533,150 (GRCm39) Y308D probably damaging Het
Snrpd2 T C 7: 18,886,535 (GRCm39) V106A probably benign Het
Sybu C A 15: 44,540,998 (GRCm39) A355S possibly damaging Het
Tes3-ps A T 13: 49,647,692 (GRCm39) R189S probably benign Het
Trmo T C 4: 46,382,604 (GRCm39) D164G probably damaging Het
Vmn1r225 A G 17: 20,722,823 (GRCm39) Q88R probably benign Het
Xkr9 T C 1: 13,742,832 (GRCm39) V39A probably benign Het
Xpo1 A T 11: 23,217,752 (GRCm39) M73L probably benign Het
Zbtb21 G A 16: 97,752,516 (GRCm39) T589I probably damaging Het
Zbtb41 A G 1: 139,350,892 (GRCm39) K2E probably damaging Het
Zfp105 A G 9: 122,759,568 (GRCm39) K413R 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
R0446:Emx2 UTSW 19 59,452,348 (GRCm39) nonsense probably null
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
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'- GCAAGATTCTCGGGATCTTCGG -3'
(R):5'- AGCGATGACCCAGATATCGG -3'

Sequencing Primer
(F):5'- TTCACCATCGAGTCGCTGG -3'
(R):5'- TGACCCAGATATCGGTAGCG -3'
Posted On 2021-07-15