Mutagenetix > Incidental Mutation

Incidental Mutation 'R0052:Bicd2'

33065

Institutional Source

Beutler Lab

Gene Symbol

Bicd2

Ensembl Gene

ENSMUSG00000037933

Gene Name

BICD cargo adaptor 2

Synonyms

1110005D12Rik, 0610027D24Rik

MMRRC Submission

038346-MU

Accession Numbers

Essential gene?

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

Stock #

R0052 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49495061-49540502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49528790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 184 (L184Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105712 (fasta)

Gene Model

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

AlphaFold

Q921C5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048544
AA Change: L184Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: L184Q

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: L110Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933
AA Change: L110Q

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: L184Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: L184Q

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

Meta Mutation Damage Score

0.9510

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.2%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,893,315 (GRCm39)	S438P	possibly damaging	Het
Atosa	A	G	9: 74,926,265 (GRCm39)		probably benign	Het
Atp2a1	A	G	7: 126,057,069 (GRCm39)		probably benign	Het
Axin2	T	C	11: 108,840,096 (GRCm39)	Y735H	probably damaging	Het
Bub1	G	A	2: 127,650,959 (GRCm39)	T618I	probably benign	Het
Catsperg2	A	G	7: 29,424,445 (GRCm39)		probably benign	Het
Ccdc73	T	A	2: 104,759,915 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,386,019 (GRCm39)		probably benign	Het
Dsp	A	G	13: 38,381,340 (GRCm39)	D2096G	possibly damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Elp3	A	G	14: 65,768,975 (GRCm39)	*548Q	probably null	Het
Eno4	A	G	19: 58,956,985 (GRCm39)	D357G	probably damaging	Het
Fcrl2	A	T	3: 87,164,085 (GRCm39)	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,580,347 (GRCm39)	S230C	probably damaging	Het
Ginm1	T	A	10: 7,655,070 (GRCm39)	E57D	possibly damaging	Het
Gtf3c1	A	T	7: 125,267,143 (GRCm39)		probably null	Het
Herc1	G	T	9: 66,307,438 (GRCm39)	G1044V	probably damaging	Het
Hmcn1	G	A	1: 150,553,157 (GRCm39)	T2511M	probably damaging	Het
Iba57	C	T	11: 59,049,727 (GRCm39)	A207T	probably benign	Het
Itga9	T	A	9: 118,465,617 (GRCm39)	I157N	probably damaging	Het
Kalrn	A	G	16: 34,177,541 (GRCm39)	L208P	probably damaging	Het
Kcnj10	A	G	1: 172,196,491 (GRCm39)	T2A	probably benign	Het
Kdm1b	T	A	13: 47,217,593 (GRCm39)	C351S	probably damaging	Het
Kif21a	T	C	15: 90,855,060 (GRCm39)	E700G	probably damaging	Het
Mmd	C	T	11: 90,150,824 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Morn3	T	C	5: 123,184,726 (GRCm39)	Y38C	probably damaging	Het
Nacc1	A	T	8: 85,402,854 (GRCm39)	V313D	probably benign	Het
Nbeal1	T	A	1: 60,267,771 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,163,992 (GRCm39)	K1989E	possibly damaging	Het
Nlrp3	C	T	11: 59,455,954 (GRCm39)	R917*	probably null	Het
Nlrp4b	T	A	7: 10,459,889 (GRCm39)	Y463*	probably null	Het
Perm1	A	T	4: 156,302,572 (GRCm39)	D372V	probably damaging	Het
Phf3	T	C	1: 30,847,848 (GRCm39)	T1232A	probably damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Pld4	T	A	12: 112,734,291 (GRCm39)	F386I	probably benign	Het
Prex2	T	A	1: 11,230,380 (GRCm39)	L802Q	probably damaging	Het
Psd3	A	G	8: 68,335,631 (GRCm39)		probably null	Het
Ralgds	T	A	2: 28,434,400 (GRCm39)		probably null	Het
Rmdn2	A	G	17: 79,957,760 (GRCm39)	E16G	probably damaging	Het
Rnf111	A	T	9: 70,383,671 (GRCm39)	S87R	probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc9c1	A	G	16: 45,427,219 (GRCm39)		probably benign	Het
Slco3a1	A	T	7: 74,154,074 (GRCm39)	I166N	probably benign	Het
Snx5	A	T	2: 144,101,112 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,636,732 (GRCm39)	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,593,038 (GRCm39)	Y339*	probably null	Het
St8sia2	A	T	7: 73,621,700 (GRCm39)	W86R	probably damaging	Het
Stk33	A	G	7: 108,878,876 (GRCm39)	L491P	possibly damaging	Het
Sult2a7	T	C	7: 14,199,133 (GRCm39)	Y298C	probably damaging	Het
Tdo2	T	A	3: 81,874,332 (GRCm39)	N210I	probably benign	Het
Thada	A	T	17: 84,762,586 (GRCm39)	N104K	probably damaging	Het
Timm8b	A	T	9: 50,516,330 (GRCm39)	D61V	possibly damaging	Het
Tshz1	G	A	18: 84,033,070 (GRCm39)	T446I	possibly damaging	Het
Ubap2l	T	C	3: 89,946,235 (GRCm39)	N123S	possibly damaging	Het
Vmn1r48	T	C	6: 90,013,246 (GRCm39)	E193G	possibly damaging	Het
Vmn1r69	C	T	7: 10,314,327 (GRCm39)	V135I	probably benign	Het
Vmn2r103	G	T	17: 20,031,903 (GRCm39)	G559V	probably benign	Het
Vmn2r26	T	A	6: 124,038,992 (GRCm39)	*856R	probably null	Het
Vmn2r88	A	G	14: 51,656,157 (GRCm39)	I798V	possibly damaging	Het
Vsir	C	T	10: 60,193,861 (GRCm39)	A108V	probably benign	Het
Zfp14	G	T	7: 29,737,753 (GRCm39)	Q411K	probably damaging	Het
Zfp236	A	T	18: 82,657,457 (GRCm39)	M762K	probably damaging	Het
Zfp462	G	A	4: 55,011,762 (GRCm39)	G1243S	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
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'- TCCAGACAGCCATATTGTTGCCC -3'
(R):5'- AGATGCTGTGAGCTTTGATTCCCC -3'

Sequencing Primer
(F):5'- GCCATATTGTTGCCCAAAGG -3'
(R):5'- GATTCCCCTGTCTCCACTGTG -3'

Posted On

2013-05-09