Incidental Mutation 'IGL02197:Phox2b'
ID 284094
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 # IGL02197
Quality Score
Status
Chromosome 5
Chromosomal Location 67251740-67256469 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 67253869 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: S176P
SMART Domains Protein: ENSMUSP00000012664
Gene: ENSMUSG00000012520
AA Change: S176P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 T C 2: 20,885,117 (GRCm39) S526G probably benign Het
Atad2b A T 12: 5,068,056 (GRCm39) N1018I possibly damaging Het
Baz1b A G 5: 135,237,951 (GRCm39) E209G probably benign Het
Bltp1 A G 3: 36,960,884 (GRCm39) T445A probably damaging Het
Capn11 T A 17: 45,950,782 (GRCm39) T264S probably benign Het
Cdh1 A G 8: 107,380,418 (GRCm39) E187G probably benign Het
Cps1 A G 1: 67,196,923 (GRCm39) I325V probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dmbt1 A G 7: 130,687,152 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,530,496 (GRCm39) D203G probably damaging Het
Eif2ak3 A G 6: 70,878,441 (GRCm39) Y1045C probably benign Het
Fam13a T A 6: 58,912,586 (GRCm39) D689V possibly damaging Het
Fnip1 T A 11: 54,384,200 (GRCm39) L342I probably damaging Het
Frk T A 10: 34,360,330 (GRCm39) N110K probably damaging Het
Gm5134 T C 10: 75,790,536 (GRCm39) probably null Het
Gm53 T C 11: 96,142,549 (GRCm39) noncoding transcript Het
Gm9312 A T 12: 24,302,163 (GRCm39) noncoding transcript Het
Gm9936 A G 5: 114,995,152 (GRCm39) probably benign Het
Hk3 A G 13: 55,162,281 (GRCm39) F108L probably damaging Het
Homer2 A T 7: 81,260,147 (GRCm39) S296T probably benign Het
Itga2b T A 11: 102,357,145 (GRCm39) H245L probably benign Het
Ky T C 9: 102,414,985 (GRCm39) F299S possibly damaging Het
Lama5 A G 2: 179,849,012 (GRCm39) Y224H possibly damaging Het
Leng9 G T 7: 4,151,723 (GRCm39) L318I probably damaging Het
Lpin1 A G 12: 16,608,408 (GRCm39) probably null Het
Lrp2 T C 2: 69,297,224 (GRCm39) I3246V probably benign Het
Map2k3 A G 11: 60,837,590 (GRCm39) Y230C probably damaging Het
Myef2 T C 2: 124,955,959 (GRCm39) probably null Het
Myh3 A T 11: 66,989,409 (GRCm39) I1510L probably benign Het
Mypn T C 10: 62,959,057 (GRCm39) D1088G possibly damaging Het
Nek9 C A 12: 85,354,704 (GRCm39) V745L probably null Het
Neu1 T A 17: 35,153,641 (GRCm39) V355D possibly damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or4c107 A G 2: 88,789,028 (GRCm39) T73A probably benign Het
Or6e1 T C 14: 54,519,409 (GRCm39) *314W probably null Het
Papola A T 12: 105,795,442 (GRCm39) N631I possibly damaging Het
Pcnx1 T C 12: 81,965,878 (GRCm39) S682P probably benign Het
Pcnx1 T C 12: 82,039,925 (GRCm39) S2071P possibly damaging Het
Pga5 A G 19: 10,649,277 (GRCm39) probably benign Het
Phlda1 T A 10: 111,343,014 (GRCm39) M250K probably damaging Het
Pkdrej A G 15: 85,699,994 (GRCm39) Y1981H possibly damaging Het
Pold1 G A 7: 44,191,663 (GRCm39) P108S probably benign Het
Ptprg T G 14: 12,220,613 (GRCm38) F442V probably damaging Het
Rab36 A G 10: 74,887,874 (GRCm39) I248M probably damaging Het
Scnn1b G A 7: 121,502,113 (GRCm39) R257Q probably null Het
Sdc1 A G 12: 8,840,835 (GRCm39) Q200R possibly damaging Het
Slc10a7 A G 8: 79,242,292 (GRCm39) T60A probably damaging Het
Snx13 A G 12: 35,156,800 (GRCm39) D484G probably damaging Het
Tlr1 G A 5: 65,083,797 (GRCm39) T260M probably damaging Het
Tpcn1 A G 5: 120,691,596 (GRCm39) V286A probably damaging Het
Traip T G 9: 107,845,936 (GRCm39) L343R possibly damaging Het
Unc13b A G 4: 43,165,828 (GRCm39) H204R probably damaging Het
Unc80 A G 1: 66,569,224 (GRCm39) S960G probably benign Het
V1ra8 C T 6: 90,180,184 (GRCm39) P129L probably benign Het
Vps13b T A 15: 35,930,202 (GRCm39) F3980I probably benign Het
Vps13d T C 4: 144,854,879 (GRCm39) N2248S probably benign Het
Vps26c G T 16: 94,302,549 (GRCm39) probably benign Het
Wnk4 T C 11: 101,154,783 (GRCm39) L324P probably damaging Het
Other mutations in Phox2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Phox2b APN 5 67,256,262 (GRCm39) missense probably damaging 1.00
IGL02713:Phox2b APN 5 67,253,938 (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