Incidental Mutation 'R4979:Bicd2'
ID 384699
Institutional Source Beutler Lab
Gene Symbol Bicd2
Ensembl Gene ENSMUSG00000037933
Gene Name BICD cargo adaptor 2
Synonyms 0610027D24Rik, 1110005D12Rik
MMRRC Submission 042574-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.539) question?
Stock # R4979 (G1)
Quality Score 194
Status Validated
Chromosome 13
Chromosomal Location 49341585-49387026 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49379464 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 509 (K509E)
Ref Sequence ENSEMBL: ENSMUSP00000105712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048544] [ENSMUST00000110084] [ENSMUST00000110085] [ENSMUST00000220723]
AlphaFold Q921C5
Predicted Effect possibly damaging
Transcript: ENSMUST00000048544
AA Change: K509E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: K509E

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 possibly damaging
Transcript: ENSMUST00000110084
AA Change: K435E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933
AA Change: K435E

DomainStartEndE-ValueType
Pfam:BicD 9 723 N/A PFAM
low complexity region 733 745 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110085
AA Change: K509E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: K509E

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
Meta Mutation Damage Score 0.0862 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 99% (79/80)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,001,811 (GRCm38) E381K probably damaging Het
Abca1 T C 4: 53,085,092 (GRCm38) probably null Het
Abca7 C T 10: 80,004,783 (GRCm38) Q870* probably null Het
Ambp C T 4: 63,152,651 (GRCm38) V64M probably benign Het
Ank1 T C 8: 23,132,196 (GRCm38) V1542A probably damaging Het
Anln T C 9: 22,376,501 (GRCm38) Y168C probably benign Het
Apoa4 T A 9: 46,241,505 (GRCm38) N29K probably benign Het
Arfgef1 T C 1: 10,213,109 (GRCm38) T192A probably damaging Het
Atad2b G T 12: 5,034,513 (GRCm38) D1420Y probably damaging Het
Baiap3 A G 17: 25,246,362 (GRCm38) W648R possibly damaging Het
Bank1 A G 3: 136,254,901 (GRCm38) L198P probably damaging Het
Cacna1e T C 1: 154,413,993 (GRCm38) D1821G probably damaging Het
Ccdc80 G A 16: 45,116,287 (GRCm38) V692M possibly damaging Het
Ccdc88a C T 11: 29,482,133 (GRCm38) Q308* probably null Het
Ccl8 T C 11: 82,116,147 (GRCm38) V62A probably damaging Het
Clspn C A 4: 126,578,386 (GRCm38) P951Q probably damaging Het
Cngb1 T A 8: 95,259,157 (GRCm38) I858F probably damaging Het
Cspp1 T A 1: 10,126,463 (GRCm38) N900K probably damaging Het
Ctc1 C T 11: 69,033,502 (GRCm38) A960V probably damaging Het
Ctnnd2 A G 15: 31,009,075 (GRCm38) E1106G probably damaging Het
Dido1 C T 2: 180,660,813 (GRCm38) R1766H probably damaging Het
Dipk1a A T 5: 107,909,534 (GRCm38) L386* probably null Het
Dnajc13 G T 9: 104,186,723 (GRCm38) N1341K probably damaging Het
Dnase1l1 C T X: 74,277,038 (GRCm38) probably null Homo
E2f8 G A 7: 48,875,170 (GRCm38) probably benign Het
Entpd8 A G 2: 25,082,955 (GRCm38) D91G possibly damaging Het
Fars2 A G 13: 36,204,581 (GRCm38) R18G possibly damaging Het
Fcgbp A G 7: 28,117,570 (GRCm38) S2486G probably benign Het
Fibin C T 2: 110,362,618 (GRCm38) D60N possibly damaging Het
Fpgs A G 2: 32,687,367 (GRCm38) probably benign Het
Galnt15 A G 14: 32,043,290 (GRCm38) D303G probably damaging Het
Gli3 C A 13: 15,724,464 (GRCm38) T812K possibly damaging Het
Gpbar1 G C 1: 74,279,245 (GRCm38) A216P probably benign Het
Grin2d A G 7: 45,857,933 (GRCm38) I448T probably benign Het
Il21 C A 3: 37,232,504 (GRCm38) S21I probably damaging Het
Iqce G T 5: 140,691,621 (GRCm38) D148E probably damaging Het
Iqcg T A 16: 33,019,514 (GRCm38) E354V probably damaging Het
Iws1 T C 18: 32,093,267 (GRCm38) probably benign Het
Ly75 C T 2: 60,375,894 (GRCm38) G144S probably damaging Het
Marco C A 1: 120,494,225 (GRCm38) M83I probably benign Het
Mettl6 A T 14: 31,479,795 (GRCm38) L185H probably damaging Het
Mppe1 C T 18: 67,229,702 (GRCm38) G154D probably damaging Het
Mrpl42 T C 10: 95,490,375 (GRCm38) E85G probably benign Het
Neb A G 2: 52,189,909 (GRCm38) V5518A probably damaging Het
Or12d13 A T 17: 37,336,868 (GRCm38) F121L probably benign Het
Or52p1 T A 7: 104,618,605 (GRCm38) F317I probably null Het
Or5b105 A T 19: 13,102,689 (GRCm38) I199N probably damaging Het
Or7a42 T A 10: 78,955,932 (GRCm38) C242* probably null Het
Or7d10 G T 9: 19,920,359 (GRCm38) S50I probably benign Het
Perm1 A G 4: 156,217,577 (GRCm38) T193A probably benign Het
Prkd2 T A 7: 16,848,727 (GRCm38) C172S probably damaging Het
Prr23a3 T A 9: 98,865,378 (GRCm38) D128E possibly damaging Het
Prss28 A G 17: 25,309,737 (GRCm38) Y51C probably damaging Het
Psmb1 A T 17: 15,476,189 (GRCm38) M85K probably benign Het
Rae1 T A 2: 173,012,608 (GRCm38) probably benign Het
Rasal1 A G 5: 120,678,676 (GRCm38) D759G probably benign Het
Rcvrn G A 11: 67,695,420 (GRCm38) G2R probably damaging Het
Robo3 C T 9: 37,423,344 (GRCm38) A597T probably damaging Het
Rsf1 GCG GCGACGGCGCCG 7: 97,579,907 (GRCm38) probably benign Homo
Sdcbp T A 4: 6,378,980 (GRCm38) Y22* probably null Het
Sin3a T C 9: 57,118,076 (GRCm38) F1069L probably damaging Het
Slitrk3 C T 3: 73,049,796 (GRCm38) V548I possibly damaging Het
Tbc1d22a A G 15: 86,391,086 (GRCm38) H403R probably damaging Het
Tbr1 G T 2: 61,805,249 (GRCm38) probably null Het
Tiam2 T A 17: 3,505,710 (GRCm38) D65E probably damaging Het
Tpcn2 A G 7: 145,260,096 (GRCm38) S488P probably benign Het
Trav9-2 T C 14: 53,591,238 (GRCm38) S22P probably damaging Het
Trim34a T A 7: 104,247,862 (GRCm38) N44K probably benign Het
Unc79 C G 12: 103,112,432 (GRCm38) P1619A probably benign Het
Usp22 A T 11: 61,157,216 (GRCm38) V426E probably damaging Het
Vhl A T 6: 113,624,198 (GRCm38) M20L unknown Het
Vmn1r215 G A 13: 23,075,894 (GRCm38) A35T probably benign Het
Vmn1r222 G A 13: 23,232,432 (GRCm38) L204F possibly damaging Het
Zfp871 A T 17: 32,775,855 (GRCm38) H115Q probably damaging Het
Zpr1 T A 9: 46,278,342 (GRCm38) F340L probably benign Het
Other mutations in Bicd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Bicd2 APN 13 49,378,316 (GRCm38) missense probably damaging 1.00
IGL02029:Bicd2 APN 13 49,369,499 (GRCm38) missense probably damaging 1.00
IGL02052:Bicd2 APN 13 49,379,189 (GRCm38) missense possibly damaging 0.91
IGL02955:Bicd2 APN 13 49,378,215 (GRCm38) missense probably benign
IGL03033:Bicd2 APN 13 49,379,920 (GRCm38) missense probably benign 0.09
IGL03395:Bicd2 APN 13 49,375,258 (GRCm38) missense probably damaging 1.00
IGL02802:Bicd2 UTSW 13 49,378,328 (GRCm38) missense probably damaging 1.00
P0027:Bicd2 UTSW 13 49,379,651 (GRCm38) missense probably benign 0.05
R0052:Bicd2 UTSW 13 49,375,314 (GRCm38) missense probably damaging 1.00
R0052:Bicd2 UTSW 13 49,375,314 (GRCm38) missense probably damaging 1.00
R0393:Bicd2 UTSW 13 49,379,870 (GRCm38) missense probably damaging 1.00
R0718:Bicd2 UTSW 13 49,377,875 (GRCm38) splice site probably null
R0730:Bicd2 UTSW 13 49,378,241 (GRCm38) missense possibly damaging 0.77
R1716:Bicd2 UTSW 13 49,378,310 (GRCm38) missense probably benign
R2004:Bicd2 UTSW 13 49,379,405 (GRCm38) missense possibly damaging 0.50
R2041:Bicd2 UTSW 13 49,341,776 (GRCm38) missense probably benign 0.02
R2151:Bicd2 UTSW 13 49,379,576 (GRCm38) missense probably damaging 1.00
R2152:Bicd2 UTSW 13 49,379,576 (GRCm38) missense probably damaging 1.00
R2444:Bicd2 UTSW 13 49,379,024 (GRCm38) missense probably benign 0.00
R4085:Bicd2 UTSW 13 49,384,962 (GRCm38) splice site probably null
R4477:Bicd2 UTSW 13 49,377,972 (GRCm38) missense probably damaging 1.00
R4824:Bicd2 UTSW 13 49,379,012 (GRCm38) missense probably damaging 1.00
R6348:Bicd2 UTSW 13 49,379,846 (GRCm38) missense probably damaging 1.00
R7317:Bicd2 UTSW 13 49,378,308 (GRCm38) missense probably damaging 1.00
R7326:Bicd2 UTSW 13 49,369,609 (GRCm38) missense probably benign 0.43
R7395:Bicd2 UTSW 13 49,378,230 (GRCm38) missense possibly damaging 0.79
R7448:Bicd2 UTSW 13 49,379,951 (GRCm38) missense probably damaging 1.00
R7789:Bicd2 UTSW 13 49,379,659 (GRCm38) missense probably damaging 1.00
R8082:Bicd2 UTSW 13 49,379,053 (GRCm38) nonsense probably null
R8247:Bicd2 UTSW 13 49,379,986 (GRCm38) missense probably damaging 1.00
R8726:Bicd2 UTSW 13 49,379,429 (GRCm38) missense probably damaging 0.99
T0722:Bicd2 UTSW 13 49,379,651 (GRCm38) missense probably benign 0.05
X0003:Bicd2 UTSW 13 49,379,651 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATCAATGGGCCTGAGATCCTG -3'
(R):5'- AACTGGGTGAAGGACTGTTG -3'

Sequencing Primer
(F):5'- TGAGATCCTGGCCTGCAAGTAC -3'
(R):5'- CCCTTGGGCAAGAGGACAG -3'
Posted On 2016-05-10