Mutagenetix > Incidental Mutation

Incidental Mutation 'R7317:Bicd2'

563487

Institutional Source

Beutler Lab

Gene Symbol

Bicd2

Ensembl Gene

ENSMUSG00000037933

Gene Name

BICD cargo adaptor 2

Synonyms

1110005D12Rik, 0610027D24Rik

MMRRC Submission

045369-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R7317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49495061-49540502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49531784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 342 (L342P)

Ref Sequence

ENSEMBL: ENSMUSP00000039394 (fasta)

Gene Model

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

AlphaFold

Q921C5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048544
AA Change: L342P

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

SMART Domains

Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: L342P

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: L268P

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

SMART Domains

Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933
AA Change: L268P

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: L342P

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

SMART Domains

Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: L342P

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,140,202 (GRCm39)	P832L	probably benign	Het
Adamts17	C	T	7: 66,490,304 (GRCm39)	R129*	probably null	Het
Alg5	G	T	3: 54,656,752 (GRCm39)	R321L	probably benign	Het
Amotl1	T	A	9: 14,486,515 (GRCm39)	T460S	probably benign	Het
Ankrd50	T	C	3: 38,537,332 (GRCm39)	E7G	possibly damaging	Het
Ap3b2	T	C	7: 81,110,776 (GRCm39)	T1000A	unknown	Het
Arap2	G	A	5: 62,807,067 (GRCm39)	T1200M	probably damaging	Het
Asb2	A	T	12: 103,299,616 (GRCm39)	I272N	probably damaging	Het
C1qtnf6	T	A	15: 78,409,206 (GRCm39)	I214F	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,534 (GRCm39)	H587Q	probably benign	Het
Cfap70	T	A	14: 20,450,502 (GRCm39)	I1010F	possibly damaging	Het
Chd1	A	T	17: 15,962,536 (GRCm39)	K764N	possibly damaging	Het
Cluh	A	G	11: 74,556,530 (GRCm39)	D956G	possibly damaging	Het
Ehbp1l1	T	C	19: 5,770,730 (GRCm39)	D243G	probably benign	Het
Ercc4	T	C	16: 12,939,977 (GRCm39)	V169A	probably benign	Het
Erich6	T	C	3: 58,544,305 (GRCm39)	E94G	probably benign	Het
Fubp3	A	G	2: 31,494,624 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,380,305 (GRCm39)	T736I	probably damaging	Het
Garre1	A	G	7: 33,963,072 (GRCm39)	V200A	probably benign	Het
Gm14496	T	A	2: 181,637,613 (GRCm39)	M229K	possibly damaging	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,040,521 (GRCm39)	T596A	probably benign	Het
H1f4	A	G	13: 23,806,350 (GRCm39)	I44T	probably damaging	Het
Htr5b	T	A	1: 121,438,157 (GRCm39)	Y358F	probably damaging	Het
Il18r1	A	T	1: 40,513,992 (GRCm39)	Y66F	possibly damaging	Het
Il18rap	A	G	1: 40,564,536 (GRCm39)	T189A	probably damaging	Het
Irag2	G	A	6: 145,104,424 (GRCm39)	G164R	possibly damaging	Het
Itgav	G	T	2: 83,625,327 (GRCm39)	A771S	probably benign	Het
Klf11	T	C	12: 24,705,518 (GRCm39)	V324A	possibly damaging	Het
Krtap15-1	T	C	16: 88,626,193 (GRCm39)	C87R	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Mbd5	A	G	2: 49,169,755 (GRCm39)	D1642G	probably benign	Het
Med15	G	T	16: 17,489,507 (GRCm39)	Q356K	unknown	Het
Mmp3	A	G	9: 7,446,937 (GRCm39)	Y39C	probably damaging	Het
Mon2	A	G	10: 122,849,851 (GRCm39)	S1149P	probably damaging	Het
Msh3	A	G	13: 92,422,512 (GRCm39)	I548T	probably damaging	Het
Noc2l	T	A	4: 156,323,673 (GRCm39)	V179E	possibly damaging	Het
Or4b1b	A	T	2: 90,112,748 (GRCm39)	M57K	probably damaging	Het
Or5k3	T	G	16: 58,969,684 (GRCm39)	M157R	possibly damaging	Het
Or5p64	G	T	7: 107,854,425 (GRCm39)	Q307K	probably benign	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Pcdhb10	A	T	18: 37,546,079 (GRCm39)	Q385L	possibly damaging	Het
Pdzd2	T	C	15: 12,592,329 (GRCm39)	K105R	probably damaging	Het
Pex1	A	T	5: 3,668,875 (GRCm39)	D582V	probably damaging	Het
Pheta1	A	T	5: 121,991,336 (GRCm39)	T233S	possibly damaging	Het
Pi4ka	A	G	16: 17,223,496 (GRCm39)		probably null	Het
Pigw	T	C	11: 84,768,066 (GRCm39)	N421S	probably benign	Het
Plek	T	C	11: 16,944,739 (GRCm39)	K97R	probably benign	Het
R3hcc1l	C	T	19: 42,571,979 (GRCm39)	R753*	probably null	Het
R3hdml	G	A	2: 163,344,367 (GRCm39)	W252*	probably null	Het
Septin12	T	C	16: 4,809,599 (GRCm39)	K238E	probably damaging	Het
Sgce	G	A	6: 4,691,615 (GRCm39)	T320I	probably benign	Het
Sidt2	A	T	9: 45,854,988 (GRCm39)	C562*	probably null	Het
Skint8	T	C	4: 111,796,717 (GRCm39)	C274R	possibly damaging	Het
Slc13a5	A	T	11: 72,135,953 (GRCm39)	M529K	probably damaging	Het
Smg8	T	G	11: 86,976,391 (GRCm39)	S397R	possibly damaging	Het
Spock3	G	T	8: 63,566,590 (GRCm39)	R68L	possibly damaging	Het
Stau2	T	A	1: 16,530,553 (GRCm39)	H122L	unknown	Het
Tent5a	G	C	9: 85,206,670 (GRCm39)	A376G	possibly damaging	Het
Tert	G	A	13: 73,790,495 (GRCm39)	R858H	probably damaging	Het
Tgm3	G	A	2: 129,890,211 (GRCm39)	R658Q	probably benign	Het
Tmc4	A	G	7: 3,672,918 (GRCm39)	I455T	probably benign	Het
Tmtc4	G	A	14: 123,215,593 (GRCm39)	P18S	probably benign	Het
Tnc	A	G	4: 63,890,959 (GRCm39)	I1641T	probably damaging	Het
Trav14-3	A	T	14: 54,000,951 (GRCm39)	N54I	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc5c	T	A	3: 141,495,703 (GRCm39)	M524K	probably benign	Het
Unc93a	A	G	17: 13,335,171 (GRCm39)	F292L	probably benign	Het
Uso1	A	G	5: 92,321,851 (GRCm39)	N248S	possibly damaging	Het
Usp5	A	G	6: 124,803,281 (GRCm39)	L73P	probably damaging	Het
Utp20	T	A	10: 88,598,797 (GRCm39)	I60F	possibly damaging	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	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
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'- GGTCTCCTTAGATGGCCTCAAG -3'
(R):5'- AATCAGGAACCTACTCCTCTGG -3'

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

Posted On

2019-06-26