Incidental Mutation 'R7110:Phox2b'
ID 551439
Institutional Source Beutler Lab
Gene Symbol Phox2b
Ensembl Gene ENSMUSG00000012520
Gene Name paired-like homeobox 2b
Synonyms GENA 269, Pmx2b, NBPhox, Dilp1, Phox2b, Px2b
MMRRC Submission 045202-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7110 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 67251740-67256469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67253505 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O35690
Predicted Effect unknown
Transcript: ENSMUST00000012664
AA Change: S297L
SMART Domains Protein: ENSMUSP00000012664
Gene: ENSMUSG00000012520
AA Change: S297L

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
Meta Mutation Damage Score 0.1054 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A G 11: 58,316,571 (GRCm39) T184A possibly damaging Het
Abca4 T A 3: 121,926,292 (GRCm39) Y1243N probably damaging Het
Adamts7 A G 9: 90,076,017 (GRCm39) T1250A possibly damaging Het
Adgrg3 T C 8: 95,761,591 (GRCm39) V118A possibly damaging Het
Agrn A G 4: 156,263,332 (GRCm39) V364A possibly damaging Het
Cacna2d1 C A 5: 16,562,782 (GRCm39) L853I probably damaging Het
Ccdc25 A G 14: 66,094,165 (GRCm39) K124R probably benign Het
Ccdc73 A G 2: 104,803,569 (GRCm39) M236V probably benign Het
Cdh1 G A 8: 107,395,176 (GRCm39) D862N possibly damaging Het
Cdh5 A G 8: 104,867,400 (GRCm39) D559G probably damaging Het
Celsr2 C A 3: 108,305,181 (GRCm39) G2133C probably damaging Het
Chd5 A G 4: 152,469,896 (GRCm39) N1823S probably damaging Het
Cog7 T C 7: 121,534,999 (GRCm39) N562S probably damaging Het
Dcaf6 A T 1: 165,179,537 (GRCm39) S534R probably benign Het
Donson G A 16: 91,479,009 (GRCm39) R436* probably null Het
Fam53c T A 18: 34,895,523 (GRCm39) probably null Het
Foxi3 A G 6: 70,937,730 (GRCm39) T321A probably benign Het
Frmd4b A T 6: 97,273,192 (GRCm39) Y733* probably null Het
Fscn2 A T 11: 120,257,580 (GRCm39) T314S probably benign Het
Gfral A G 9: 76,072,112 (GRCm39) I386T possibly damaging Het
Gm21698 T C 5: 26,190,175 (GRCm39) E174G probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gprin1 T C 13: 54,887,056 (GRCm39) D406G probably benign Het
Habp2 A T 19: 56,299,596 (GRCm39) R128* probably null Het
Hoxc10 A T 15: 102,879,356 (GRCm39) Y292F probably damaging Het
Hydin A T 8: 111,081,583 (GRCm39) probably null Het
Igkv12-89 T C 6: 68,812,115 (GRCm39) D18G probably damaging Het
Jhy T C 9: 40,828,556 (GRCm39) N450S probably damaging Het
Klhl18 T A 9: 110,279,833 (GRCm39) Q119L probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lsmem1 A T 12: 40,235,272 (GRCm39) probably null Het
Ly75 A G 2: 60,206,528 (GRCm39) I47T probably benign Het
Med12l C A 3: 59,169,645 (GRCm39) T1603K possibly damaging Het
Mgat5 A G 1: 127,310,716 (GRCm39) D210G possibly damaging Het
Mgmt G T 7: 136,687,715 (GRCm39) G55W probably damaging Het
Mrpl57 G A 14: 58,063,754 (GRCm39) probably benign Het
Mtg1 G A 7: 139,726,779 (GRCm39) R209Q probably benign Het
Muc21 CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT 17: 35,933,510 (GRCm39) probably benign Het
Muc5ac T G 7: 141,353,559 (GRCm39) C826W possibly damaging Het
Myot A G 18: 44,474,453 (GRCm39) D146G probably damaging Het
Nlrp4f T A 13: 65,347,160 (GRCm39) I11F probably damaging Het
Nsun5 T A 5: 135,400,104 (GRCm39) Y76N probably damaging Het
Or7a42 A T 10: 78,791,284 (GRCm39) M82L possibly damaging Het
Pcdhb3 A G 18: 37,435,975 (GRCm39) N647S possibly damaging Het
Pdgfra T A 5: 75,349,895 (GRCm39) Y926* probably null Het
Pdzd2 A T 15: 12,368,099 (GRCm39) L2630H probably damaging Het
Polr3e T A 7: 120,539,510 (GRCm39) probably null Het
Ppp4r2 T A 6: 100,842,823 (GRCm39) V238E probably damaging Het
Proc A T 18: 32,266,441 (GRCm39) F129I probably benign Het
Sgca T A 11: 94,854,227 (GRCm39) probably null Het
Slc7a10 A G 7: 34,899,009 (GRCm39) H360R probably benign Het
Slurp2 G A 15: 74,614,964 (GRCm39) T59I probably benign Het
Son A G 16: 91,453,406 (GRCm39) T718A probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spink7 T C 18: 62,727,338 (GRCm39) N62S probably damaging Het
Stxbp3 C A 3: 108,723,649 (GRCm39) R195S probably damaging Het
Sulf1 G A 1: 12,908,825 (GRCm39) V613M probably damaging Het
Tbc1d9b A T 11: 50,054,657 (GRCm39) I934F probably benign Het
Tecpr2 T G 12: 110,885,406 (GRCm39) L195R probably damaging Het
Tns2 G C 15: 102,013,801 (GRCm39) C71S probably damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Usp40 G T 1: 87,913,884 (GRCm39) T403K probably benign Het
Vat1 G T 11: 101,356,539 (GRCm39) R141S possibly damaging Het
Vmn2r28 T G 7: 5,493,733 (GRCm39) N71T probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CGAATCGCGATCATTTTAGGC -3'
(R):5'- AAGAGCACTGATCCCGACAG -3'

Sequencing Primer
(F):5'- GAATCGCGATCATTTTAGGCCTTCG -3'
(R):5'- ACTGATCCCGACAGCACTGG -3'
Posted On 2019-05-15