Incidental Mutation 'IGL03033:Bicd2'
ID408535
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 #IGL03033
Quality Score
Status
Chromosome13
Chromosomal Location49341585-49387026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 49379920 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 587 (V587L)
Ref Sequence ENSEMBL: ENSMUSP00000105711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048544] [ENSMUST00000110084] [ENSMUST00000110085] [ENSMUST00000220723]
Predicted Effect probably benign
Transcript: ENSMUST00000048544
AA Change: V661L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: V661L

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 benign
Transcript: ENSMUST00000110084
AA Change: V587L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933
AA Change: V587L

DomainStartEndE-ValueType
Pfam:BicD 9 723 N/A PFAM
low complexity region 733 745 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110085
AA Change: V661L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: V661L

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
Predicted Effect probably benign
Transcript: ENSMUST00000220723
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,518 T566S probably benign Het
Ap3b1 A G 13: 94,448,495 T405A probably benign Het
Bsn A T 9: 108,115,993 D853E probably damaging Het
Cacna1i C A 15: 80,362,239 N611K probably damaging Het
Capn11 A G 17: 45,642,547 L227P probably damaging Het
Copb2 A G 9: 98,570,373 N70S probably benign Het
Ddb1 T C 19: 10,625,926 V866A possibly damaging Het
Dst A G 1: 34,169,745 probably benign Het
Ero1lb A G 13: 12,581,670 Y117C probably damaging Het
Esyt1 T G 10: 128,516,383 R758S probably benign Het
Gm20441 A G 10: 75,771,492 F55S probably damaging Het
Gm20547 A T 17: 34,859,516 M362K probably damaging Het
Gucy1b2 A G 14: 62,415,944 V334A probably benign Het
Hnrnph3 A T 10: 63,018,179 F53L probably benign Het
Kcnk18 C T 19: 59,235,184 P254S probably benign Het
Lrfn5 T A 12: 61,840,047 L207Q probably damaging Het
Lrp3 T C 7: 35,202,627 M589V possibly damaging Het
Nlrp1b A G 11: 71,161,839 V918A probably benign Het
Nsg2 A G 11: 32,001,836 T29A probably damaging Het
Olfr66 T A 7: 103,881,517 H242L probably damaging Het
Pank4 C T 4: 154,974,715 T435I probably damaging Het
Prom1 C T 5: 44,006,160 probably null Het
Prr14 G T 7: 127,471,963 L3F probably damaging Het
Rfx7 A T 9: 72,532,989 probably benign Het
Rhbdl3 A G 11: 80,346,827 N295S probably damaging Het
Ripk3 A G 14: 55,787,165 probably benign Het
Ror1 A T 4: 100,411,895 N310I possibly damaging Het
Rpl23a T C 11: 78,181,582 Y74C possibly damaging Het
Rtp3 A T 9: 110,986,094 probably benign Het
Sbno1 A T 5: 124,376,150 N1326K probably damaging Het
Sepsecs T C 5: 52,660,676 N253S probably damaging Het
Setd2 A C 9: 110,551,275 E1386A possibly damaging Het
Sf3b3 T C 8: 110,810,964 I1211V possibly damaging Het
Sh3tc2 G A 18: 61,974,478 V187M possibly damaging Het
Slc30a6 G T 17: 74,409,378 E136* probably null Het
Sptan1 T A 2: 29,991,033 V438E probably damaging Het
Stab2 A G 10: 86,996,803 probably null Het
Sult2a1 T A 7: 13,832,710 probably benign Het
Tmem198 A G 1: 75,482,968 D189G possibly damaging Het
Tnfrsf8 C A 4: 145,292,649 L205F possibly damaging Het
Vmn1r68 T A 7: 10,528,147 E8V probably damaging Het
Wnk3 G A X: 151,276,928 D742N probably damaging Het
Xpc A T 6: 91,491,315 probably null Het
Zfp113 A T 5: 138,151,196 probably benign Het
Zfp120 A T 2: 150,119,874 D51E probably benign Het
Zfp473 C T 7: 44,733,098 V603M probably benign 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
IGL03395:Bicd2 APN 13 49375258 missense probably damaging 1.00
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