Incidental Mutation 'R4085:Bicd2'
ID 317103
Institutional Source Beutler Lab
Gene Symbol Bicd2
Ensembl Gene ENSMUSG00000037933
Gene Name BICD cargo adaptor 2
Synonyms 1110005D12Rik, 0610027D24Rik
MMRRC Submission 040979-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R4085 (G1)
Quality Score 139
Status Validated
Chromosome 13
Chromosomal Location 49495061-49540502 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 49538438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048544] [ENSMUST00000110084] [ENSMUST00000110084] [ENSMUST00000110084] [ENSMUST00000110084] [ENSMUST00000110085] [ENSMUST00000110085] [ENSMUST00000110085] [ENSMUST00000110085] [ENSMUST00000220723] [ENSMUST00000220723] [ENSMUST00000220723] [ENSMUST00000220723]
AlphaFold Q921C5
Predicted Effect probably benign
Transcript: ENSMUST00000048544
SMART Domains Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933

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 null
Transcript: ENSMUST00000110084
SMART Domains Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933

DomainStartEndE-ValueType
Pfam:BicD 9 723 N/A PFAM
low complexity region 733 745 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110084
SMART Domains Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933

DomainStartEndE-ValueType
Pfam:BicD 9 723 N/A PFAM
low complexity region 733 745 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110084
SMART Domains Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933

DomainStartEndE-ValueType
Pfam:BicD 9 723 N/A PFAM
low complexity region 733 745 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110084
SMART Domains Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933

DomainStartEndE-ValueType
Pfam:BicD 9 723 N/A PFAM
low complexity region 733 745 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110085
SMART Domains Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933

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 null
Transcript: ENSMUST00000110085
SMART Domains Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933

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 null
Transcript: ENSMUST00000110085
SMART Domains Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933

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 null
Transcript: ENSMUST00000110085
SMART Domains Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933

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 null
Transcript: ENSMUST00000220723
Predicted Effect probably null
Transcript: ENSMUST00000220723
Predicted Effect probably null
Transcript: ENSMUST00000220723
Predicted Effect probably null
Transcript: ENSMUST00000220723
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Abca15 T C 7: 119,981,949 (GRCm39) V1088A probably damaging Het
Adgrl3 A G 5: 81,660,391 (GRCm39) I319V probably benign Het
Atraid A T 5: 31,209,650 (GRCm39) probably benign Het
Aurkaip1 A T 4: 155,917,362 (GRCm39) K172N probably benign Het
Ccr1 C T 9: 123,763,987 (GRCm39) R181H probably benign Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 C A 1: 82,448,909 (GRCm39) probably null Het
Coro1b T C 19: 4,203,618 (GRCm39) V451A probably benign Het
Dcc T A 18: 71,959,240 (GRCm39) Q177H probably benign Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dynlrb1 G T 2: 155,091,896 (GRCm39) probably benign Het
Ehbp1 A T 11: 22,045,898 (GRCm39) L592Q possibly damaging Het
Fam20b T C 1: 156,533,445 (GRCm39) D57G probably benign Het
Fbxo33 A G 12: 59,247,591 (GRCm39) probably benign Het
Fndc4 A G 5: 31,451,121 (GRCm39) I190T probably damaging Het
Gad1 G T 2: 70,420,192 (GRCm39) A359S probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm43517 A G 12: 49,437,897 (GRCm39) probably benign Het
Hectd1 A T 12: 51,821,533 (GRCm39) V1052D possibly damaging Het
Herc6 G A 6: 57,624,054 (GRCm39) C608Y probably benign Het
Itpr2 T A 6: 146,045,746 (GRCm39) D2573V probably damaging Het
Kank2 A G 9: 21,706,415 (GRCm39) L201P probably damaging Het
Kdm1a A C 4: 136,279,273 (GRCm39) Y762* probably null Het
Mef2c C T 13: 83,723,821 (GRCm39) T9M probably damaging Het
Ndst4 A G 3: 125,403,131 (GRCm39) I413V probably benign Het
Nlrp1b T C 11: 71,052,588 (GRCm39) T947A probably damaging Het
Nlrp5 C A 7: 23,129,523 (GRCm39) N863K probably damaging Het
Opn1sw A G 6: 29,380,143 (GRCm39) I91T possibly damaging Het
Or2y13 T C 11: 49,414,955 (GRCm39) I135T probably benign Het
Pmfbp1 A G 8: 110,221,579 (GRCm39) K15E possibly damaging Het
Ppp3cb A G 14: 20,558,611 (GRCm39) C484R possibly damaging Het
Rassf2 C A 2: 131,846,299 (GRCm39) G153C probably damaging Het
Rbm15b T C 9: 106,762,936 (GRCm39) N411D possibly damaging Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Sall1 C T 8: 89,755,137 (GRCm39) V1281M probably benign Het
Sall3 A T 18: 81,015,348 (GRCm39) M860K probably damaging Het
Sik2 A T 9: 50,846,685 (GRCm39) probably benign Het
Sim2 A G 16: 93,910,213 (GRCm39) Y205C possibly damaging Het
Styxl1 G A 5: 135,788,019 (GRCm39) T92I unknown Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taok2 T C 7: 126,473,897 (GRCm39) E403G possibly damaging Het
Tedc2 A T 17: 24,438,813 (GRCm39) V168E probably benign Het
Tle6 A G 10: 81,430,349 (GRCm39) probably null Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Ucp1 T C 8: 84,020,580 (GRCm39) I130T probably benign Het
Urb2 A G 8: 124,757,680 (GRCm39) H1129R probably benign Het
Vmn2r111 C T 17: 22,778,096 (GRCm39) G528R probably benign Het
Wbp2nl A G 15: 82,192,762 (GRCm39) M149V probably benign Het
Xdh A T 17: 74,223,874 (GRCm39) M506K 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
IGL03033:Bicd2 APN 13 49,533,396 (GRCm39) missense probably benign 0.09
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
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
Predicted Primers PCR Primer
(F):5'- CCAGAACGCAGCTTCTCTTAC -3'
(R):5'- GCAGATTGCAGCATTCTCAATAG -3'

Sequencing Primer
(F):5'- GAACGCAGCTTCTCTTACACTGTATG -3'
(R):5'- CCCATTAAAAACTTGGGGAATGC -3'
Posted On 2015-05-15