Mutagenetix > Incidental Mutation

Incidental Mutation 'R4979:Bicd2'

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

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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