Incidental Mutation 'IGL03033:Bicd2'
ID 408535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bicd2
Ensembl Gene ENSMUSG00000037933
Gene Name BICD cargo adaptor 2
Synonyms 1110005D12Rik, 0610027D24Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # IGL03033
Quality Score
Status
Chromosome 13
Chromosomal Location 49495061-49540502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 49533396 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q921C5
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
Aoc1l2 A T 6: 48,909,452 (GRCm39) T566S probably benign Het
Ap3b1 A G 13: 94,585,003 (GRCm39) T405A probably benign Het
Bsn A T 9: 107,993,192 (GRCm39) D853E probably damaging Het
Cacna1i C A 15: 80,246,440 (GRCm39) N611K probably damaging Het
Capn11 A G 17: 45,953,473 (GRCm39) L227P probably damaging Het
Copb2 A G 9: 98,452,426 (GRCm39) N70S probably benign Het
Ddb1 T C 19: 10,603,290 (GRCm39) V866A possibly damaging Het
Dst A G 1: 34,208,826 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,551 (GRCm39) Y117C probably damaging Het
Esyt1 T G 10: 128,352,252 (GRCm39) R758S probably benign Het
Gm20441 A G 10: 75,607,326 (GRCm39) F55S probably damaging Het
Gm20547 A T 17: 35,078,492 (GRCm39) M362K probably damaging Het
Gucy1b2 A G 14: 62,653,393 (GRCm39) V334A probably benign Het
Hnrnph3 A T 10: 62,853,958 (GRCm39) F53L probably benign Het
Kcnk18 C T 19: 59,223,616 (GRCm39) P254S probably benign Het
Lrfn5 T A 12: 61,886,833 (GRCm39) L207Q probably damaging Het
Lrp3 T C 7: 34,902,052 (GRCm39) M589V possibly damaging Het
Nlrp1b A G 11: 71,052,665 (GRCm39) V918A probably benign Het
Nsg2 A G 11: 31,951,836 (GRCm39) T29A probably damaging Het
Or51b4 T A 7: 103,530,724 (GRCm39) H242L probably damaging Het
Pank4 C T 4: 155,059,172 (GRCm39) T435I probably damaging Het
Prom1 C T 5: 44,163,502 (GRCm39) probably null Het
Prr14 G T 7: 127,071,135 (GRCm39) L3F probably damaging Het
Rfx7 A T 9: 72,440,271 (GRCm39) probably benign Het
Rhbdl3 A G 11: 80,237,653 (GRCm39) N295S probably damaging Het
Ripk3 A G 14: 56,024,622 (GRCm39) probably benign Het
Ror1 A T 4: 100,269,092 (GRCm39) N310I possibly damaging Het
Rpl23a T C 11: 78,072,408 (GRCm39) Y74C possibly damaging Het
Rtp3 A T 9: 110,815,162 (GRCm39) probably benign Het
Sbno1 A T 5: 124,514,213 (GRCm39) N1326K probably damaging Het
Sepsecs T C 5: 52,818,018 (GRCm39) N253S probably damaging Het
Setd2 A C 9: 110,380,343 (GRCm39) E1386A possibly damaging Het
Sf3b3 T C 8: 111,537,596 (GRCm39) I1211V possibly damaging Het
Sh3tc2 G A 18: 62,107,549 (GRCm39) V187M possibly damaging Het
Slc30a6 G T 17: 74,716,373 (GRCm39) E136* probably null Het
Sptan1 T A 2: 29,881,045 (GRCm39) V438E probably damaging Het
Stab2 A G 10: 86,832,667 (GRCm39) probably null Het
Sult2a1 T A 7: 13,566,635 (GRCm39) probably benign Het
Tmem198 A G 1: 75,459,612 (GRCm39) D189G possibly damaging Het
Tnfrsf8 C A 4: 145,019,219 (GRCm39) L205F possibly damaging Het
Vmn1r68 T A 7: 10,262,074 (GRCm39) E8V probably damaging Het
Wnk3 G A X: 150,059,924 (GRCm39) D742N probably damaging Het
Xpc A T 6: 91,468,297 (GRCm39) probably null Het
Zfp113 A T 5: 138,149,458 (GRCm39) probably benign Het
Zfp120 A T 2: 149,961,794 (GRCm39) D51E probably benign Het
Zfp473 C T 7: 44,382,522 (GRCm39) V603M probably benign Het
Other mutations in Bicd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Bicd2 APN 13 49,531,792 (GRCm39) missense probably damaging 1.00
IGL02029:Bicd2 APN 13 49,522,975 (GRCm39) missense probably damaging 1.00
IGL02052:Bicd2 APN 13 49,532,665 (GRCm39) missense possibly damaging 0.91
IGL02955:Bicd2 APN 13 49,531,691 (GRCm39) missense probably benign
IGL03395:Bicd2 APN 13 49,528,734 (GRCm39) missense probably damaging 1.00
IGL02802:Bicd2 UTSW 13 49,531,804 (GRCm39) missense probably damaging 1.00
P0027:Bicd2 UTSW 13 49,533,127 (GRCm39) missense probably benign 0.05
R0052:Bicd2 UTSW 13 49,528,790 (GRCm39) missense probably damaging 1.00
R0052:Bicd2 UTSW 13 49,528,790 (GRCm39) missense probably damaging 1.00
R0393:Bicd2 UTSW 13 49,533,346 (GRCm39) missense probably damaging 1.00
R0718:Bicd2 UTSW 13 49,531,351 (GRCm39) splice site probably null
R0730:Bicd2 UTSW 13 49,531,717 (GRCm39) missense possibly damaging 0.77
R1716:Bicd2 UTSW 13 49,531,786 (GRCm39) missense probably benign
R2004:Bicd2 UTSW 13 49,532,881 (GRCm39) missense possibly damaging 0.50
R2041:Bicd2 UTSW 13 49,495,252 (GRCm39) missense probably benign 0.02
R2151:Bicd2 UTSW 13 49,533,052 (GRCm39) missense probably damaging 1.00
R2152:Bicd2 UTSW 13 49,533,052 (GRCm39) missense probably damaging 1.00
R2444:Bicd2 UTSW 13 49,532,500 (GRCm39) missense probably benign 0.00
R4085:Bicd2 UTSW 13 49,538,438 (GRCm39) splice site probably null
R4477:Bicd2 UTSW 13 49,531,448 (GRCm39) missense probably damaging 1.00
R4824:Bicd2 UTSW 13 49,532,488 (GRCm39) missense probably damaging 1.00
R4979:Bicd2 UTSW 13 49,532,940 (GRCm39) missense possibly damaging 0.89
R6348:Bicd2 UTSW 13 49,533,322 (GRCm39) missense probably damaging 1.00
R7317:Bicd2 UTSW 13 49,531,784 (GRCm39) missense probably damaging 1.00
R7326:Bicd2 UTSW 13 49,523,085 (GRCm39) missense probably benign 0.43
R7395:Bicd2 UTSW 13 49,531,706 (GRCm39) missense possibly damaging 0.79
R7448:Bicd2 UTSW 13 49,533,427 (GRCm39) missense probably damaging 1.00
R7789:Bicd2 UTSW 13 49,533,135 (GRCm39) missense probably damaging 1.00
R8082:Bicd2 UTSW 13 49,532,529 (GRCm39) nonsense probably null
R8247:Bicd2 UTSW 13 49,533,462 (GRCm39) missense probably damaging 1.00
R8726:Bicd2 UTSW 13 49,532,905 (GRCm39) missense probably damaging 0.99
T0722:Bicd2 UTSW 13 49,533,127 (GRCm39) missense probably benign 0.05
X0003:Bicd2 UTSW 13 49,533,127 (GRCm39) missense probably benign 0.05
Posted On 2016-08-02