Incidental Mutation 'R9583:Hoxb2'
ID 722673
Institutional Source Beutler Lab
Gene Symbol Hoxb2
Ensembl Gene ENSMUSG00000075588
Gene Name homeobox B2
Synonyms Hox-2.8, Hoxbes2
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.617) question?
Stock # R9583 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 96242458-96244846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96242725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 30 (E30G)
Ref Sequence ENSEMBL: ENSMUSP00000098092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093944] [ENSMUST00000100523]
AlphaFold P0C1T1
Predicted Effect probably benign
Transcript: ENSMUST00000093944
SMART Domains Protein: ENSMUSP00000091476
Gene: ENSMUSG00000048763

DomainStartEndE-ValueType
low complexity region 76 121 N/A INTRINSIC
low complexity region 154 181 N/A INTRINSIC
HOX 191 253 5.44e-28 SMART
low complexity region 256 274 N/A INTRINSIC
Pfam:DUF4074 368 431 1.9e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100523
AA Change: E30G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098092
Gene: ENSMUSG00000075588
AA Change: E30G

DomainStartEndE-ValueType
low complexity region 76 94 N/A INTRINSIC
low complexity region 99 118 N/A INTRINSIC
HOX 141 203 2.54e-28 SMART
low complexity region 204 213 N/A INTRINSIC
low complexity region 317 330 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele die neonatally with altered segmental identity and abnormal migration of motor neurons in the hindbrain. Mice homozygous for null alleles can exhibit partial postnatal lethality, narrow face, runting, absent facial motor nuclei, and facial nerve/muscle defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,862,092 (GRCm39) I66N probably damaging Het
Adgrg3 A T 8: 95,760,071 (GRCm39) I97F probably benign Het
AI987944 T A 7: 41,023,937 (GRCm39) R350S probably benign Het
Arap3 T C 18: 38,109,096 (GRCm39) T1214A probably damaging Het
Arid5a A G 1: 36,356,739 (GRCm39) E127G possibly damaging Het
Bbx T C 16: 50,044,920 (GRCm39) E547G possibly damaging Het
Ceacam16 T C 7: 19,587,803 (GRCm39) I322V probably damaging Het
Chd2 G T 7: 73,130,230 (GRCm39) N808K probably damaging Het
Copg2 A C 6: 30,787,399 (GRCm39) L615* probably null Het
Cyp21a1 A G 17: 35,022,017 (GRCm39) L221P probably damaging Het
Dnah9 C A 11: 65,856,507 (GRCm39) V2885L probably damaging Het
Dnajb13 A G 7: 100,152,446 (GRCm39) L290P probably damaging Het
Eif3e A G 15: 43,128,957 (GRCm39) V221A probably damaging Het
Evc G A 5: 37,473,701 (GRCm39) R511* probably null Het
Far2 C T 6: 148,059,434 (GRCm39) P250S probably damaging Het
Fmo1 T A 1: 162,686,996 (GRCm39) T44S Het
Grid1 A G 14: 35,302,492 (GRCm39) E919G possibly damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Il5ra G A 6: 106,689,331 (GRCm39) P75L unknown Het
Il5ra T A 6: 106,721,297 (GRCm39) M1L possibly damaging Het
Inpp4b T C 8: 82,497,555 (GRCm39) probably null Het
Itgb8 T A 12: 119,153,708 (GRCm39) H269L possibly damaging Het
Jrk G A 15: 74,578,403 (GRCm39) A294V probably damaging Het
Knl1 A T 2: 118,887,782 (GRCm39) D2V probably damaging Het
Lrrc71 T C 3: 87,650,258 (GRCm39) I272V possibly damaging Het
Mdn1 T C 4: 32,741,372 (GRCm39) S3825P probably damaging Het
Mex3d C A 10: 80,218,129 (GRCm39) V363L Het
Mfsd13b C A 7: 120,598,134 (GRCm39) H347N possibly damaging Het
Mllt1 G T 17: 57,209,572 (GRCm39) H179Q probably benign Het
Mmp14 A T 14: 54,678,069 (GRCm39) R563S probably benign Het
Ms4a18 T C 19: 10,974,714 (GRCm39) T326A probably benign Het
Muc16 T C 9: 18,549,973 (GRCm39) D5440G probably benign Het
Muc2 A T 7: 141,300,559 (GRCm39) E294V Het
Myh7b A G 2: 155,459,641 (GRCm39) N241S probably damaging Het
Myo1b T C 1: 51,796,404 (GRCm39) I1007V possibly damaging Het
Or10j5 T C 1: 172,784,893 (GRCm39) F177S probably damaging Het
Or4a77 A G 2: 89,487,005 (GRCm39) V260A possibly damaging Het
Or8g33 T A 9: 39,337,851 (GRCm39) D172V possibly damaging Het
Pan2 T C 10: 128,140,135 (GRCm39) S19P probably benign Het
Pkn3 A G 2: 29,976,723 (GRCm39) D588G probably null Het
Pkp4 A G 2: 59,178,104 (GRCm39) N988D possibly damaging Het
Plxdc1 T C 11: 97,824,844 (GRCm39) D344G probably damaging Het
Plxna4 C T 6: 32,192,169 (GRCm39) R807H possibly damaging Het
Potefam3b T A 8: 21,174,962 (GRCm39) F285I possibly damaging Het
Prdm15 A T 16: 97,623,142 (GRCm39) S237T probably benign Het
Sanbr A C 11: 23,531,642 (GRCm39) M661R possibly damaging Het
Slc9a2 G A 1: 40,721,061 (GRCm39) V10M probably benign Het
Sytl2 T C 7: 90,024,800 (GRCm39) S263P probably benign Het
Taf7l2 A T 10: 115,948,931 (GRCm39) D198E probably benign Het
Trrap G A 5: 144,777,330 (GRCm39) V3043M probably damaging Het
Tshz3 C T 7: 36,470,492 (GRCm39) T827I possibly damaging Het
Ttll1 T C 15: 83,384,226 (GRCm39) T134A possibly damaging Het
Vmn1r196 G T 13: 22,477,920 (GRCm39) M186I probably damaging Het
Vrk2 C T 11: 26,433,157 (GRCm39) probably null Het
Zfp59 T A 7: 27,554,483 (GRCm39) V645E probably benign Het
Other mutations in Hoxb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02992:Hoxb2 APN 11 96,243,910 (GRCm39) missense probably damaging 1.00
R3951:Hoxb2 UTSW 11 96,244,001 (GRCm39) missense probably damaging 0.98
R6950:Hoxb2 UTSW 11 96,242,727 (GRCm39) missense probably benign 0.34
R7103:Hoxb2 UTSW 11 96,244,447 (GRCm39) missense possibly damaging 0.85
R7673:Hoxb2 UTSW 11 96,244,283 (GRCm39) missense possibly damaging 0.83
R8784:Hoxb2 UTSW 11 96,242,736 (GRCm39) missense possibly damaging 0.62
R9166:Hoxb2 UTSW 11 96,244,339 (GRCm39) missense probably damaging 0.98
Z1177:Hoxb2 UTSW 11 96,242,815 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTGCTCCATTGCATAAACCTGG -3'
(R):5'- CTTCTCTTTCATCCAGGGGAAC -3'

Sequencing Primer
(F):5'- CCACCATTGAAAGCCATG -3'
(R):5'- TTTCATCCAGGGGAACTCGGG -3'
Posted On 2022-08-09