Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Bicd2'

392109

Institutional Source

Beutler Lab

Gene Symbol

Bicd2

Ensembl Gene

ENSMUSG00000037933

Gene Name

BICD cargo adaptor 2

Synonyms

1110005D12Rik, 0610027D24Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.486) question?

Stock #

IGL02802 (G1)

Quality Score

110

Status

Validated

Chromosome

Chromosomal Location

49495061-49540502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49531804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 349 (K349E)

Ref Sequence

ENSEMBL: ENSMUSP00000105712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048544] [ENSMUST00000110084] [ENSMUST00000110085] [ENSMUST00000220723]

AlphaFold

Q921C5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048544
AA Change: K349E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: K349E

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

probably damaging
Transcript: ENSMUST00000110084
AA Change: K275E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933
AA Change: K275E

Domain	Start	End	E-Value	Type
Pfam:BicD	9	723	N/A	PFAM
low complexity region	733	745	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110085
AA Change: K349E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: K349E

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

0.3933

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	Het

Other mutations in Bicd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGGTCTCCTTAGATGGCCTCAAG -3'
(R):5'- ATCAGGAACCTACTCCTCTGGG -3'

Sequencing Primer
(F):5'- TGATGATACTGTCACCGCAG -3'
(R):5'- CTGGGACACTACTCTTTACCAGTAAG -3'

Posted On

2016-06-09