Incidental Mutation 'IGL03395:Bicd2'
ID421225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bicd2
Ensembl Gene ENSMUSG00000037933
Gene NameBICD cargo adaptor 2
Synonyms0610027D24Rik, 1110005D12Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.694) question?
Stock #IGL03395
Quality Score
Status
Chromosome13
Chromosomal Location49341585-49387026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49375258 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 165 (D165E)
Ref Sequence ENSEMBL: ENSMUSP00000105712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048544] [ENSMUST00000110084] [ENSMUST00000110085]
Predicted Effect probably damaging
Transcript: ENSMUST00000048544
AA Change: D165E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: D165E

DomainStartEndE-ValueType
internal_repeat_1 22 50 2.25e-5 PROSPERO
Pfam:BicD 83 797 N/A PFAM
low complexity region 807 819 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110084
AA Change: D91E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933
AA Change: D91E

DomainStartEndE-ValueType
Pfam:BicD 9 723 N/A PFAM
low complexity region 733 745 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110085
AA Change: D165E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: D165E

DomainStartEndE-ValueType
internal_repeat_1 22 50 1.16e-5 PROSPERO
Pfam:BicD 83 797 N/A PFAM
low complexity region 807 819 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show postnatal and premature death associated with progressive hydrocephalus, enlarged lateral ventricles, aqueductal stenosis, abnormal gait, disrupted laminar organization of the cerebral cortex and cerebellum, and impaired cerebellar granule cell migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik G T 7: 139,976,676 probably benign Het
9330182L06Rik A T 5: 9,422,359 Q352L probably damaging Het
Adam11 A G 11: 102,772,920 D308G probably damaging Het
Adgrg3 A T 8: 95,035,073 I155F probably damaging Het
Ado T C 10: 67,548,538 Y79C probably benign Het
Aox1 T C 1: 58,068,725 Het
Ccdc124 A C 8: 70,868,607 M163R probably benign Het
Ceacam5 T C 7: 17,745,379 probably benign Het
Cenpq A G 17: 40,923,558 L247P probably damaging Het
Crat A G 2: 30,404,966 V479A probably benign Het
Egfr T C 11: 16,910,261 Het
Emc9 C T 14: 55,584,740 A72T probably benign Het
Fbxo5 G A 10: 5,801,935 S226F probably benign Het
Gm42688 A C 6: 83,108,371 E737D possibly damaging Het
Got1l1 G T 8: 27,200,857 H54Q probably benign Het
Grid2 G A 6: 63,909,069 V150I possibly damaging Het
Klc4 C T 17: 46,632,863 V506M probably damaging Het
Lrrc8c A G 5: 105,606,629 N90S probably benign Het
Lrrk2 T A 15: 91,797,414 probably null Het
Mbd6 G A 10: 127,283,417 R950C probably damaging Het
Nol11 A G 11: 107,175,722 V414A probably benign Het
Olfr18 A T 9: 20,314,551 M123K probably damaging Het
Pcnt T C 10: 76,436,491 E177G possibly damaging Het
Pcnx2 G T 8: 125,887,523 D396E probably benign Het
Pcyt2 A T 11: 120,613,050 probably null Het
Pds5a T C 5: 65,652,449 D390G possibly damaging Het
Pik3r2 T C 8: 70,772,355 T155A probably benign Het
Rab31 T A 17: 65,696,367 H95L probably benign Het
Rfx5 C T 3: 94,957,802 R259* probably null Het
Slc6a17 T C 3: 107,477,306 D285G probably damaging Het
Spats2l A T 1: 57,938,016 I318F probably damaging Het
Tcf12 A G 9: 71,876,022 S361P probably damaging Het
Other mutations in Bicd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Bicd2 APN 13 49378316 missense probably damaging 1.00
IGL02029:Bicd2 APN 13 49369499 missense probably damaging 1.00
IGL02052:Bicd2 APN 13 49379189 missense possibly damaging 0.91
IGL02955:Bicd2 APN 13 49378215 missense probably benign
IGL03033:Bicd2 APN 13 49379920 missense probably benign 0.09
IGL02802:Bicd2 UTSW 13 49378328 missense probably damaging 1.00
P0027:Bicd2 UTSW 13 49379651 missense probably benign 0.05
R0052:Bicd2 UTSW 13 49375314 missense probably damaging 1.00
R0052:Bicd2 UTSW 13 49375314 missense probably damaging 1.00
R0393:Bicd2 UTSW 13 49379870 missense probably damaging 1.00
R0718:Bicd2 UTSW 13 49377875 splice site probably null
R0730:Bicd2 UTSW 13 49378241 missense possibly damaging 0.77
R1716:Bicd2 UTSW 13 49378310 missense probably benign
R2004:Bicd2 UTSW 13 49379405 missense possibly damaging 0.50
R2041:Bicd2 UTSW 13 49341776 missense probably benign 0.02
R2151:Bicd2 UTSW 13 49379576 missense probably damaging 1.00
R2152:Bicd2 UTSW 13 49379576 missense probably damaging 1.00
R2444:Bicd2 UTSW 13 49379024 missense probably benign 0.00
R4085:Bicd2 UTSW 13 49384962 splice site probably null
R4477:Bicd2 UTSW 13 49377972 missense probably damaging 1.00
R4824:Bicd2 UTSW 13 49379012 missense probably damaging 1.00
R4979:Bicd2 UTSW 13 49379464 missense possibly damaging 0.89
R6348:Bicd2 UTSW 13 49379846 missense probably damaging 1.00
T0722:Bicd2 UTSW 13 49379651 missense probably benign 0.05
X0003:Bicd2 UTSW 13 49379651 missense probably benign 0.05
Posted On2016-08-02