Mutagenetix > Incidental Mutation

Incidental Mutation 'R2041:Bicd2'

224974

Institutional Source

Beutler Lab

Gene Symbol

Bicd2

Ensembl Gene

ENSMUSG00000037933

Gene Name

BICD cargo adaptor 2

Synonyms

1110005D12Rik, 0610027D24Rik

MMRRC Submission

040048-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R2041 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

49495061-49540502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49495252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 36 (T36A)

Ref Sequence

ENSEMBL: ENSMUSP00000105712 (fasta)

Gene Model

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

AlphaFold

Q921C5

Predicted Effect

probably benign
Transcript: ENSMUST00000048544
AA Change: T36A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: T36A

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 benign
Transcript: ENSMUST00000110084

SMART Domains

Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110085
AA Change: T36A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: T36A

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

0.0591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,211 (GRCm39)	D265E	probably damaging	Het
2610021A01Rik	A	G	7: 41,275,403 (GRCm39)	R369G	possibly damaging	Het
Actr3b	T	C	5: 25,965,128 (GRCm39)		probably null	Het
Adamts12	A	T	15: 11,215,821 (GRCm39)	M281L	probably damaging	Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Akap12	C	T	10: 4,306,489 (GRCm39)	P1100S	probably benign	Het
Alox8	T	A	11: 69,088,517 (GRCm39)	H40L	possibly damaging	Het
Anks1	T	A	17: 28,227,388 (GRCm39)	F659L	probably damaging	Het
Asxl3	G	T	18: 22,656,508 (GRCm39)	R1506L	probably benign	Het
Ccar1	A	T	10: 62,601,827 (GRCm39)	L448Q	probably damaging	Het
Ccdc17	T	G	4: 116,456,789 (GRCm39)	N497K	probably damaging	Het
Chek2	T	C	5: 110,996,530 (GRCm39)	I164T	probably damaging	Het
Cntnap5c	T	C	17: 58,411,765 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,505,984 (GRCm39)	D669E	probably benign	Het
Cpsf6	A	G	10: 117,195,033 (GRCm39)	I482T	probably damaging	Het
Csf3	C	T	11: 98,592,483 (GRCm39)	S65L	possibly damaging	Het
Dlc1	A	G	8: 37,049,922 (GRCm39)	Y1049H	probably damaging	Het
Dnah6	T	C	6: 73,050,422 (GRCm39)	D3048G	probably damaging	Het
Eif4g3	T	A	4: 137,832,617 (GRCm39)		probably benign	Het
Epb41l4b	T	C	4: 57,084,070 (GRCm39)	K195R	probably damaging	Het
Epn1	T	C	7: 5,086,874 (GRCm39)	S41P	probably damaging	Het
Fam120a	C	A	13: 49,051,243 (GRCm39)	V721L	probably benign	Het
Fchsd1	T	A	18: 38,100,729 (GRCm39)		probably null	Het
Fer1l6	G	A	15: 58,430,155 (GRCm39)	G194D	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fyb1	A	C	15: 6,674,268 (GRCm39)	T635P	possibly damaging	Het
Gpr153	A	G	4: 152,367,810 (GRCm39)	S554G	probably benign	Het
Grm1	A	G	10: 10,622,347 (GRCm39)	F459L	probably damaging	Het
H60c	C	T	10: 3,209,972 (GRCm39)	G105D	probably damaging	Het
Ifnlr1	T	A	4: 135,433,148 (GRCm39)	M528K	possibly damaging	Het
Lama4	A	T	10: 38,945,987 (GRCm39)	D790V	probably damaging	Het
Mfsd13b	T	C	7: 120,591,139 (GRCm39)		probably benign	Het
Mis12	T	A	11: 70,916,132 (GRCm39)	I55N	probably damaging	Het
Morn1	T	C	4: 155,175,399 (GRCm39)	Y103H	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Ndst3	C	A	3: 123,465,864 (GRCm39)	G36V	probably benign	Het
Nlrp4a	T	A	7: 26,149,611 (GRCm39)	M406K	probably damaging	Het
Or4p18	T	C	2: 88,232,568 (GRCm39)	T237A	probably damaging	Het
Or51t4	T	A	7: 102,598,170 (GRCm39)	V156E	probably damaging	Het
Or5b106	A	T	19: 13,124,041 (GRCm39)		probably benign	Het
Or7g32	A	T	9: 19,408,131 (GRCm39)	D29V	probably benign	Het
Or9m1	T	C	2: 87,733,141 (GRCm39)	N293S	probably damaging	Het
Pars2	A	G	4: 106,510,814 (GRCm39)	T199A	probably damaging	Het
Plcb4	C	T	2: 135,780,191 (GRCm39)	T172I	probably damaging	Het
Pomgnt2	A	T	9: 121,811,354 (GRCm39)	W476R	probably benign	Het
Psg23	T	A	7: 18,348,703 (GRCm39)	S35C	possibly damaging	Het
Pycr3	T	A	15: 75,791,144 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,727 (GRCm39)	V764A	possibly damaging	Het
Rgs2	A	G	1: 143,877,960 (GRCm39)	F80S	probably damaging	Het
Sall1	A	G	8: 89,759,429 (GRCm39)	L225P	probably benign	Het
Setd3	A	G	12: 108,079,651 (GRCm39)	I284T	possibly damaging	Het
Slc4a9	C	T	18: 36,663,846 (GRCm39)	T290I	possibly damaging	Het
Tmem87b	T	C	2: 128,673,509 (GRCm39)	V251A	probably damaging	Het
Ube3b	T	C	5: 114,525,294 (GRCm39)	L39P	probably damaging	Het
Ubr2	C	A	17: 47,296,973 (GRCm39)	R269L	probably damaging	Het
Vrk2	A	T	11: 26,497,914 (GRCm39)	I90K	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp984	A	T	4: 147,839,796 (GRCm39)	C352S	probably 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
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
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'- TAGTCCATGCTCAGTGGGAC -3'
(R):5'- GGCCTGCAAAGAAAACTAGC -3'

Sequencing Primer
(F):5'- ATGCTCAGTGGGACTGCAG -3'
(R):5'- GACCGCAACTCTAGGTCTCCTG -3'

Posted On

2014-08-25