Incidental Mutation 'R5179:B9d2'
ID 399387
Institutional Source Beutler Lab
Gene Symbol B9d2
Ensembl Gene ENSMUSG00000063439
Gene Name B9 protein domain 2
Synonyms stumpy
MMRRC Submission 042759-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5179 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 25380205-25385983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25380826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 5 (H5Q)
Ref Sequence ENSEMBL: ENSMUSP00000145950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108403] [ENSMUST00000205325] [ENSMUST00000205658] [ENSMUST00000206913]
AlphaFold Q3UK10
Predicted Effect probably damaging
Transcript: ENSMUST00000108403
AA Change: H5Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104040
Gene: ENSMUSG00000063439
AA Change: H5Q

DomainStartEndE-ValueType
Pfam:B9-C2 4 164 5.1e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205325
AA Change: H5Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000205658
AA Change: H5Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206913
AA Change: H5Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8613 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bhlhe40 T C 6: 108,642,169 (GRCm39) I371T possibly damaging Het
Bmp8a C T 4: 123,207,094 (GRCm39) R389H probably damaging Het
Cc2d2a T A 5: 43,845,563 (GRCm39) N326K possibly damaging Het
Ccdc154 A G 17: 25,390,137 (GRCm39) N545S probably benign Het
Ccser2 A T 14: 36,601,308 (GRCm39) S359T possibly damaging Het
Cd22 T A 7: 30,575,299 (GRCm39) T248S possibly damaging Het
Cylc2 T C 4: 51,228,587 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,759 (GRCm39) I4107T probably damaging Het
Egf T A 3: 129,479,936 (GRCm39) H488L probably damaging Het
Epb41l4b A G 4: 57,063,181 (GRCm39) V503A probably benign Het
Exd2 G T 12: 80,531,118 (GRCm39) W105L probably damaging Het
Flrt2 A T 12: 95,747,121 (GRCm39) R486S probably benign Het
Gadl1 C A 9: 115,789,448 (GRCm39) C251* probably null Het
Ifit2 C A 19: 34,550,976 (GRCm39) P172Q probably damaging Het
Incenp G C 19: 9,872,273 (GRCm39) Q62E unknown Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lrg1 A G 17: 56,427,795 (GRCm39) L59P possibly damaging Het
Luc7l3 T C 11: 94,190,879 (GRCm39) E145G possibly damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Ndst3 A G 3: 123,346,181 (GRCm39) S698P probably damaging Het
Nploc4 T C 11: 120,299,682 (GRCm39) D346G probably benign Het
Or4m1 G A 14: 50,557,993 (GRCm39) Q100* probably null Het
Or56b1b T C 7: 108,164,433 (GRCm39) I190V probably benign Het
Osbpl8 T G 10: 111,108,025 (GRCm39) D298E probably benign Het
Pcna-ps2 T C 19: 9,260,891 (GRCm39) L50P probably damaging Het
Ptgir C T 7: 16,641,253 (GRCm39) P182S probably damaging Het
Rictor A G 15: 6,825,421 (GRCm39) Y1653C probably damaging Het
Sgcd T A 11: 46,871,711 (GRCm39) E208V probably benign Het
Slc7a8 A T 14: 54,962,289 (GRCm39) C448* probably null Het
Sos2 G A 12: 69,697,502 (GRCm39) R73* probably null Het
Tecpr2 A G 12: 110,911,127 (GRCm39) T1055A possibly damaging Het
Usp47 T C 7: 111,692,639 (GRCm39) Y1014H probably damaging Het
Vmn2r6 A T 3: 64,445,411 (GRCm39) F682L probably benign Het
Other mutations in B9d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03118:B9d2 APN 7 25,380,901 (GRCm39) critical splice donor site probably null
R0607:B9d2 UTSW 7 25,382,757 (GRCm39) missense probably damaging 1.00
R4281:B9d2 UTSW 7 25,380,851 (GRCm39) missense possibly damaging 0.69
R5575:B9d2 UTSW 7 25,382,757 (GRCm39) missense probably damaging 1.00
R5908:B9d2 UTSW 7 25,382,724 (GRCm39) missense probably damaging 1.00
R6921:B9d2 UTSW 7 25,385,442 (GRCm39) missense probably damaging 1.00
R7560:B9d2 UTSW 7 25,380,784 (GRCm39) intron probably benign
R9051:B9d2 UTSW 7 25,385,462 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TGTGATGAAGGCCACATTGTC -3'
(R):5'- CCCCATATGCTTAGGGGCTATG -3'

Sequencing Primer
(F):5'- AGGCCACATTGTCAGTGG -3'
(R):5'- CTATGTTTTCCGATGGTGAGATAAC -3'
Posted On 2016-07-06