Mutagenetix > Incidental Mutation

Incidental Mutation 'R8082:Bicd2'

629433

Institutional Source

Beutler Lab

Gene Symbol

Bicd2

Ensembl Gene

ENSMUSG00000037933

Gene Name

BICD cargo adaptor 2

Synonyms

1110005D12Rik, 0610027D24Rik

MMRRC Submission

067515-MU

Accession Numbers

Essential gene?

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

Stock #

R8082 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49495061-49540502 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 49532529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 372 (Q372*)

Ref Sequence

ENSEMBL: ENSMUSP00000039394 (fasta)

Gene Model

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

AlphaFold

Q921C5

Predicted Effect

probably null
Transcript: ENSMUST00000048544
AA Change: Q372*

SMART Domains

Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: Q372*

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 null
Transcript: ENSMUST00000110084
AA Change: Q298*

SMART Domains

Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933
AA Change: Q298*

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

Predicted Effect

probably null
Transcript: ENSMUST00000110085
AA Change: Q372*

SMART Domains

Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: Q372*

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,188,895 (GRCm39)		probably null	Het
4921524J17Rik	G	A	8: 86,136,468 (GRCm39)	A133V	possibly damaging	Het
AAdacl4fm3	A	C	4: 144,441,897 (GRCm39)	F118C	probably damaging	Het
Amd1	A	G	10: 40,166,508 (GRCm39)	F123L	probably benign	Het
Ankrd34c	C	A	9: 89,610,768 (GRCm39)	K524N	probably damaging	Het
Cadps2	T	A	6: 23,323,313 (GRCm39)	M1002L	probably damaging	Het
Calcrl	T	C	2: 84,200,786 (GRCm39)	Y86C	possibly damaging	Het
Ccdc141	T	C	2: 76,954,588 (GRCm39)	I220V	probably damaging	Het
Cep152	T	C	2: 125,428,313 (GRCm39)	T773A	probably benign	Het
Cgn	A	G	3: 94,670,368 (GRCm39)	F1029L	probably benign	Het
Cntnap5b	T	A	1: 100,306,941 (GRCm39)	M515K	probably benign	Het
Col6a6	T	A	9: 105,661,129 (GRCm39)	K327*	probably null	Het
Cspg4	A	G	9: 56,793,177 (GRCm39)	Y304C	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dync2i1	T	A	12: 116,177,127 (GRCm39)		probably null	Het
Ecpas	G	A	4: 58,807,852 (GRCm39)	A1672V	probably benign	Het
Emilin3	A	C	2: 160,750,066 (GRCm39)	V561G	probably damaging	Het
Fam3c	T	A	6: 22,343,303 (GRCm39)	D12V	unknown	Het
Fam83f	T	C	15: 80,574,119 (GRCm39)	V158A	probably damaging	Het
Fgfbp1	T	C	5: 44,136,621 (GRCm39)	R224G	probably damaging	Het
Gid4	A	G	11: 60,327,273 (GRCm39)	K153E	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hic2	A	G	16: 17,076,563 (GRCm39)	H464R	probably damaging	Het
Ilvbl	C	T	10: 78,419,987 (GRCm39)	R602C	probably damaging	Het
Ints15	T	C	5: 143,297,607 (GRCm39)	R147G	probably benign	Het
Izumo1r	T	A	9: 14,805,373 (GRCm39)	D171V	unknown	Het
Kel	T	A	6: 41,680,424 (GRCm39)	E12V	possibly damaging	Het
Klf15	T	C	6: 90,443,466 (GRCm39)	S14P	possibly damaging	Het
Lars1	T	A	18: 42,377,975 (GRCm39)	S147C	probably damaging	Het
Lgals1	C	T	15: 78,814,301 (GRCm39)	A122V	probably benign	Het
Lgsn	C	T	1: 31,243,273 (GRCm39)	H452Y	probably benign	Het
Lrrc37a	T	A	11: 103,348,248 (GRCm39)	I2816F	unknown	Het
Mcoln1	T	A	8: 3,557,420 (GRCm39)	I142K	probably benign	Het
Met	G	A	6: 17,492,312 (GRCm39)	R358Q	probably damaging	Het
Mink1	T	A	11: 70,504,103 (GRCm39)	C1276S	possibly damaging	Het
Mrc1	T	C	2: 14,253,771 (GRCm39)	M264T	probably benign	Het
Mtfr2	C	T	10: 20,229,135 (GRCm39)	T81M	probably benign	Het
Myo5c	G	A	9: 75,182,793 (GRCm39)	A811T	possibly damaging	Het
Naip6	C	A	13: 100,436,909 (GRCm39)	S538I	probably benign	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Ndufs3	T	C	2: 90,725,208 (GRCm39)	D213G	probably damaging	Het
Or51k1	T	A	7: 103,661,897 (GRCm39)	E4V	probably benign	Het
Or5ac20	T	C	16: 59,104,750 (GRCm39)	T37A	possibly damaging	Het
Or5g9	T	C	2: 85,551,824 (GRCm39)	V25A	probably benign	Het
Or9g8	T	A	2: 85,607,044 (GRCm39)	L39I	probably benign	Het
Otog	C	T	7: 45,939,143 (GRCm39)	R2058C	probably damaging	Het
Pcdh10	A	T	3: 45,336,179 (GRCm39)	K831M	probably damaging	Het
Polr1b	A	G	2: 128,957,652 (GRCm39)	D569G	probably benign	Het
Polr3b	T	C	10: 84,491,927 (GRCm39)	L362P	probably damaging	Het
Rims2	G	T	15: 39,339,919 (GRCm39)	R871L	probably benign	Het
Shprh	T	A	10: 11,027,555 (GRCm39)	I54N	probably benign	Het
Sipa1l2	T	C	8: 126,218,548 (GRCm39)	D263G	possibly damaging	Het
Slc43a1	C	T	2: 84,687,244 (GRCm39)	R382C	probably benign	Het
Sorbs1	T	C	19: 40,353,527 (GRCm39)	R193G	probably benign	Het
Spata31e5	T	A	1: 28,816,579 (GRCm39)	K484N	probably benign	Het
Sry	T	A	Y: 2,662,589 (GRCm39)	Q357L	unknown	Het
Taar8b	T	A	10: 23,967,789 (GRCm39)	D135V	possibly damaging	Het
Tekt3	T	G	11: 62,961,056 (GRCm39)	V75G	probably benign	Het
Tm7sf2	A	G	19: 6,116,351 (GRCm39)	L198P	probably damaging	Het
Tuba1a	C	T	15: 98,848,742 (GRCm39)	V177I	probably benign	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
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
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'- GTGAATTCTGTCCAGTCTGCTG -3'
(R):5'- TACTTGCAGGCCAGGATCTC -3'

Sequencing Primer
(F):5'- GTCCAGTCTGCTGTCAACAAGTG -3'
(R):5'- AGGATCTCAGGCCCATTGATGTC -3'

Posted On

2020-06-30