Incidental Mutation 'IGL02713:Phox2b'
ID 304665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phox2b
Ensembl Gene ENSMUSG00000012520
Gene Name paired-like homeobox 2b
Synonyms GENA 269, Pmx2b, NBPhox, Dilp1, Phox2b, Px2b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02713
Quality Score
Chromosome 5
Chromosomal Location 67251740-67256469 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 67253938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012664] [ENSMUST00000174251]
AlphaFold O35690
Predicted Effect unknown
Transcript: ENSMUST00000012664
AA Change: F153L
SMART Domains Protein: ENSMUSP00000012664
Gene: ENSMUSG00000012520
AA Change: F153L

HOX 98 160 5.75e-27 SMART
low complexity region 209 279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174251
SMART Domains Protein: ENSMUSP00000134216
Gene: ENSMUSG00000012520

HOX 98 156 1.49e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]
PHENOTYPE: Heterozygotes for an ethylnitrosourea-induced mutation exhibit dilated pupils and reduced preweaning viability. Other mice heterozygous for mutations in this gene exhibit respiratory failure and specific loss of parafacial interneurons. Homozygotes are inviable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,749,992 (GRCm39) T1588A possibly damaging Het
Apeh A T 9: 107,962,871 (GRCm39) L700Q probably damaging Het
Arid1b T C 17: 5,393,286 (GRCm39) I2272T probably damaging Het
Best3 T G 10: 116,860,434 (GRCm39) F565V probably benign Het
Birc6 A G 17: 74,886,319 (GRCm39) N521S probably benign Het
Cd209f T A 8: 4,153,732 (GRCm39) R191S probably benign Het
Clec4e A T 6: 123,263,263 (GRCm39) Y63* probably null Het
Cracdl C A 1: 37,663,218 (GRCm39) K893N possibly damaging Het
Cyp26c1 C T 19: 37,681,667 (GRCm39) T490M probably damaging Het
Cyp2b9 T A 7: 25,872,945 (GRCm39) H29Q probably benign Het
Cyp2d10 A C 15: 82,290,283 (GRCm39) probably benign Het
Dgat1 C A 15: 76,387,734 (GRCm39) R291L probably damaging Het
Dyrk1a C A 16: 94,486,204 (GRCm39) probably benign Het
Esp4 T C 17: 40,913,297 (GRCm39) F55L probably benign Het
Fam227a G A 15: 79,520,997 (GRCm39) probably benign Het
Ggt1 T C 10: 75,410,178 (GRCm39) Y37H probably damaging Het
Grsf1 A T 5: 88,820,589 (GRCm39) I64K probably damaging Het
Itga6 C T 2: 71,647,057 (GRCm39) T89I possibly damaging Het
Jph2 T C 2: 163,217,837 (GRCm39) T280A probably damaging Het
Lipm A G 19: 34,078,570 (GRCm39) M1V probably null Het
Nbeal1 C T 1: 60,274,396 (GRCm39) A513V possibly damaging Het
Or10a3 G A 7: 108,480,060 (GRCm39) T251I probably damaging Het
Or10a48 A T 7: 108,424,801 (GRCm39) M135K probably damaging Het
Or10q1b A T 19: 13,682,553 (GRCm39) I121F possibly damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or5ak25 T A 2: 85,268,981 (GRCm39) I174F probably damaging Het
Or8b101 C T 9: 38,020,623 (GRCm39) P214S probably damaging Het
Orc6 A G 8: 86,034,215 (GRCm39) E146G probably benign Het
Patl2 A G 2: 121,956,328 (GRCm39) S179P probably benign Het
Pdzd8 C A 19: 59,333,890 (GRCm39) G44C probably damaging Het
Ppp4r3b T G 11: 29,138,445 (GRCm39) H264Q probably damaging Het
Ptprk T C 10: 28,468,807 (GRCm39) I1409T possibly damaging Het
Pum1 T A 4: 130,493,323 (GRCm39) I842N probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sgca T A 11: 94,862,131 (GRCm39) N174Y probably damaging Het
Slc7a14 A T 3: 31,311,912 (GRCm39) L36Q probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stard13 G A 5: 150,965,651 (GRCm39) Q935* probably null Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Sv2b A T 7: 74,773,911 (GRCm39) L520Q possibly damaging Het
Tmem26 T C 10: 68,587,125 (GRCm39) F191S probably damaging Het
Other mutations in Phox2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Phox2b APN 5 67,256,262 (GRCm39) missense probably damaging 1.00
IGL02197:Phox2b APN 5 67,253,869 (GRCm39) unclassified probably benign
R0266:Phox2b UTSW 5 67,253,968 (GRCm39) splice site probably null
R0632:Phox2b UTSW 5 67,253,557 (GRCm39) unclassified probably benign
R3552:Phox2b UTSW 5 67,254,999 (GRCm39) missense probably damaging 0.98
R3706:Phox2b UTSW 5 67,253,872 (GRCm39) unclassified probably benign
R4757:Phox2b UTSW 5 67,256,197 (GRCm39) missense probably damaging 1.00
R6484:Phox2b UTSW 5 67,255,044 (GRCm39) missense possibly damaging 0.52
R7110:Phox2b UTSW 5 67,253,505 (GRCm39) missense unknown
R7159:Phox2b UTSW 5 67,254,928 (GRCm39) missense probably benign 0.00
R7976:Phox2b UTSW 5 67,253,514 (GRCm39) missense unknown
R9269:Phox2b UTSW 5 67,256,064 (GRCm39) missense probably benign 0.33
Posted On 2015-04-16