|Institutional Source||Beutler Lab|
|Gene Name||paired-like homeobox 2b|
|Synonyms||Pmx2b, Phox2b, Dilp1, NBPhox, GENA 269|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7110 (G1)|
|Chromosomal Location||67094399-67099301 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 67096162 bp|
|Amino Acid Change||Serine to Leucine at position 297 (S297L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000012664 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000012664] [ENSMUST00000174251]|
AA Change: S297L
AA Change: S297L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1054|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
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||
|Other mutations in Phox2b||
(F):5'- CGAATCGCGATCATTTTAGGC -3'
(R):5'- AAGAGCACTGATCCCGACAG -3'
(F):5'- GAATCGCGATCATTTTAGGCCTTCG -3'
(R):5'- ACTGATCCCGACAGCACTGG -3'