Incidental Mutation 'R3706:Phox2b'
ID 271764
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 040699-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3706 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 67251740-67256469 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 67253872 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: K175E
SMART Domains Protein: ENSMUSP00000012664
Gene: ENSMUSG00000012520
AA Change: K175E

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 0.1129 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 G A 12: 112,740,085 (GRCm39) P523L possibly damaging Het
Ampd1 A G 3: 102,995,627 (GRCm39) probably benign Het
Anxa10 T A 8: 62,517,321 (GRCm39) K167M probably damaging Het
Atp8b2 A T 3: 89,852,459 (GRCm39) F866I probably damaging Het
Atxn2 T C 5: 121,923,931 (GRCm39) probably null Het
Card11 G A 5: 140,872,890 (GRCm39) R608C probably damaging Het
Cd4 T C 6: 124,856,351 (GRCm39) K47E probably benign Het
Cenpl G A 1: 160,905,985 (GRCm39) V120M probably damaging Het
Cfap69 G T 5: 5,663,843 (GRCm39) Y461* probably null Het
Cplane1 T C 15: 8,289,300 (GRCm39) S2917P unknown Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ddx24 A T 12: 103,383,675 (GRCm39) V592E probably damaging Het
Dmc1 G C 15: 79,446,782 (GRCm39) P264A probably damaging Het
Donson A G 16: 91,483,049 (GRCm39) probably benign Het
Elovl5 C A 9: 77,887,119 (GRCm39) A170E probably null Het
Emilin1 A G 5: 31,075,166 (GRCm39) E469G possibly damaging Het
Fam178b A G 1: 36,647,529 (GRCm39) Y235H probably damaging Het
Fgfr2 T C 7: 129,800,161 (GRCm39) T358A probably benign Het
Fpgs A T 2: 32,578,008 (GRCm39) I138N probably damaging Het
Glb1l2 A G 9: 26,682,316 (GRCm39) probably benign Het
Hspa4l A T 3: 40,736,125 (GRCm39) N582I possibly damaging Het
Immt T C 6: 71,839,346 (GRCm39) M226T probably benign Het
Kif21b A G 1: 136,087,148 (GRCm39) N875S probably benign Het
Lama2 T C 10: 27,014,992 (GRCm39) D1572G probably damaging Het
Lelp1 A C 3: 92,042,714 (GRCm39) C112G unknown Het
Mctp2 A G 7: 71,863,859 (GRCm39) probably benign Het
Mettl2 T A 11: 105,030,552 (GRCm39) I376N probably benign Het
Mycbp2 A T 14: 103,393,850 (GRCm39) S2904T probably benign Het
Nwd1 A G 8: 73,393,744 (GRCm39) T377A possibly damaging Het
Or10q1 T A 19: 13,726,476 (GRCm39) L2Q probably benign Het
Or5b12b C T 19: 12,861,260 (GRCm39) T5I probably damaging Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Phip T C 9: 82,782,796 (GRCm39) E883G probably benign Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Rab11b G C 17: 33,966,740 (GRCm39) H162D probably benign Het
Reln T C 5: 22,200,587 (GRCm39) probably benign Het
Sgo2b T C 8: 64,381,179 (GRCm39) E551G probably damaging Het
Sucla2 A G 14: 73,828,492 (GRCm39) K336R probably damaging Het
Zfx A G X: 93,142,413 (GRCm39) V36A possibly damaging Het
Zim1 T C 7: 6,680,290 (GRCm39) I458V 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCACTAAGGCGGCTTTGGC -3'
(R):5'- AAACAGAGTGGGTCTCGAGC -3'

Sequencing Primer
(F):5'- TCTTTGGAGCGAAGATAAGACG -3'
(R):5'- TCTCGAGCGCCACTTTGG -3'
Posted On 2015-03-25