Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Bicd2'

599760

Institutional Source

Beutler Lab

Gene Symbol

Bicd2

Ensembl Gene

ENSMUSG00000037933

Gene Name

BICD cargo adaptor 2

Synonyms

0610027D24Rik, 1110005D12Rik

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49341585-49387026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49379659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 574 (R574C)

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: R574C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: R574C

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: R500C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933
AA Change: R500C

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: R574C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: R574C

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: 98.5%

Validation Efficiency

99% (77/78)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,864,311 (GRCm38)	E163K	probably benign	Het
Adam34	T	A	8: 43,652,451 (GRCm38)	R52S	probably benign	Het
Adcy8	A	T	15: 64,871,774 (GRCm38)	C328*	probably null	Het
Ankrd26	G	T	6: 118,527,798 (GRCm38)	H717N	probably damaging	Het
Ankrd26	G	T	6: 118,527,799 (GRCm38)	S716R	possibly damaging	Het
Ankrd40	C	A	11: 94,334,709 (GRCm38)	P189T	probably damaging	Het
Anln	A	G	9: 22,352,037 (GRCm38)	S113P		Het
Arid5b	C	T	10: 68,098,587 (GRCm38)	G495E	probably benign	Het
Asxl1	C	T	2: 153,400,023 (GRCm38)	T832I	probably benign	Het
Boll	T	C	1: 55,360,667 (GRCm38)		probably null	Het
Casr	A	G	16: 36,495,291 (GRCm38)	F806L	probably damaging	Het
Casz1	C	A	4: 148,929,406 (GRCm38)	N142K	probably benign	Het
Cbl	C	T	9: 44,163,467 (GRCm38)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,814,171 (GRCm38)	V62D	probably damaging	Het
Chst10	T	C	1: 38,884,451 (GRCm38)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,545,716 (GRCm38)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,494,910 (GRCm38)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,205,677 (GRCm38)	M1K	probably null	Het
Dnajc6	A	T	4: 101,618,532 (GRCm38)	K534M	possibly damaging	Het
Dnase2a	T	C	8: 84,908,876 (GRCm38)		probably null	Het
Dock10	A	G	1: 80,559,213 (GRCm38)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,621,489 (GRCm38)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,654,083 (GRCm38)		probably null	Het
Erc1	T	A	6: 119,773,709 (GRCm38)	R353*	probably null	Het
Fam196b	T	A	11: 34,402,537 (GRCm38)	M193K	probably benign	Het
Fbn2	T	A	18: 58,039,313 (GRCm38)	D2140V	probably benign	Het
Fgfr1	T	A	8: 25,562,313 (GRCm38)	Y218*	probably null	Het
Fhod1	C	T	8: 105,330,108 (GRCm38)	R1045H	probably damaging	Het
Focad	G	T	4: 88,229,406 (GRCm38)	L427F	unknown	Het
Gbf1	T	A	19: 46,254,002 (GRCm38)	L144M	probably damaging	Het
Glmn	T	G	5: 107,549,075 (GRCm38)	N592T	probably benign	Het
Golgb1	C	G	16: 36,875,399 (GRCm38)	P87A	unknown	Het
H2bfm	G	A	X: 136,927,722 (GRCm38)	R120K	unknown	Het
Itga9	T	G	9: 118,658,496 (GRCm38)	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,439,008 (GRCm38)	D149G	unknown	Het
Lcat	C	T	8: 105,942,225 (GRCm38)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,607,200 (GRCm38)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,966,462 (GRCm38)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,490,279 (GRCm38)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,265 (GRCm38)	V345A	possibly damaging	Het
Mok	T	A	12: 110,811,827 (GRCm38)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,315,587 (GRCm38)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,753,930 (GRCm38)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,861,220 (GRCm38)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,117,436 (GRCm38)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,490,456 (GRCm38)	S143L	probably benign	Het
Olfr366	C	T	2: 37,219,660 (GRCm38)	T57I	probably benign	Het
Olfr531	A	T	7: 140,400,697 (GRCm38)	Y116*	probably null	Het
Olfr646	T	A	7: 104,106,988 (GRCm38)	S236R	probably damaging	Het
Olfr847	G	T	9: 19,375,065 (GRCm38)	T272K	probably benign	Het
Plbd2	T	C	5: 120,485,754 (GRCm38)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,206,233 (GRCm38)		probably null	Het
Plxnc1	T	A	10: 94,794,477 (GRCm38)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,434,379 (GRCm38)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,095,539 (GRCm38)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,774,335 (GRCm38)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,470,219 (GRCm38)		probably null	Het
Sema3f	T	A	9: 107,705,432 (GRCm38)	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,692,131 (GRCm38)		probably null	Het
Sh3rf3	A	G	10: 59,086,815 (GRCm38)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,377,725 (GRCm38)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,475,301 (GRCm38)		probably benign	Het
Snrnp70	A	T	7: 45,376,621 (GRCm38)	Y441*	probably null	Het
Ssrp1	C	T	2: 85,041,181 (GRCm38)	R316W	probably damaging	Het
Syt10	A	T	15: 89,826,898 (GRCm38)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,488,692 (GRCm38)	L562P		Het
Trim68	T	C	7: 102,684,469 (GRCm38)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,777,908 (GRCm38)	H240L	probably damaging	Het
Tssc4	A	G	7: 143,069,778 (GRCm38)		probably null	Het
Usp7	T	A	16: 8,698,811 (GRCm38)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,452,965 (GRCm38)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,393,817 (GRCm38)	V600F	possibly damaging	Het
Vps13d	C	T	4: 145,100,065 (GRCm38)	V2879M		Het
Vrtn	T	A	12: 84,650,306 (GRCm38)	M610K	probably benign	Het
Xpo4	T	C	14: 57,613,349 (GRCm38)	E366G	probably benign	Het
Zyg11a	G	A	4: 108,183,648 (GRCm38)	P703S	probably damaging	Het

Other mutations in Bicd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Bicd2	APN	13	49,378,316 (GRCm38)	missense	probably damaging	1.00
IGL02029:Bicd2	APN	13	49,369,499 (GRCm38)	missense	probably damaging	1.00
IGL02052:Bicd2	APN	13	49,379,189 (GRCm38)	missense	possibly damaging	0.91
IGL02955:Bicd2	APN	13	49,378,215 (GRCm38)	missense	probably benign
IGL03033:Bicd2	APN	13	49,379,920 (GRCm38)	missense	probably benign	0.09
IGL03395:Bicd2	APN	13	49,375,258 (GRCm38)	missense	probably damaging	1.00
IGL02802:Bicd2	UTSW	13	49,378,328 (GRCm38)	missense	probably damaging	1.00
P0027:Bicd2	UTSW	13	49,379,651 (GRCm38)	missense	probably benign	0.05
R0052:Bicd2	UTSW	13	49,375,314 (GRCm38)	missense	probably damaging	1.00
R0052:Bicd2	UTSW	13	49,375,314 (GRCm38)	missense	probably damaging	1.00
R0393:Bicd2	UTSW	13	49,379,870 (GRCm38)	missense	probably damaging	1.00
R0718:Bicd2	UTSW	13	49,377,875 (GRCm38)	splice site	probably null
R0730:Bicd2	UTSW	13	49,378,241 (GRCm38)	missense	possibly damaging	0.77
R1716:Bicd2	UTSW	13	49,378,310 (GRCm38)	missense	probably benign
R2004:Bicd2	UTSW	13	49,379,405 (GRCm38)	missense	possibly damaging	0.50
R2041:Bicd2	UTSW	13	49,341,776 (GRCm38)	missense	probably benign	0.02
R2151:Bicd2	UTSW	13	49,379,576 (GRCm38)	missense	probably damaging	1.00
R2152:Bicd2	UTSW	13	49,379,576 (GRCm38)	missense	probably damaging	1.00
R2444:Bicd2	UTSW	13	49,379,024 (GRCm38)	missense	probably benign	0.00
R4085:Bicd2	UTSW	13	49,384,962 (GRCm38)	splice site	probably null
R4477:Bicd2	UTSW	13	49,377,972 (GRCm38)	missense	probably damaging	1.00
R4824:Bicd2	UTSW	13	49,379,012 (GRCm38)	missense	probably damaging	1.00
R4979:Bicd2	UTSW	13	49,379,464 (GRCm38)	missense	possibly damaging	0.89
R6348:Bicd2	UTSW	13	49,379,846 (GRCm38)	missense	probably damaging	1.00
R7317:Bicd2	UTSW	13	49,378,308 (GRCm38)	missense	probably damaging	1.00
R7326:Bicd2	UTSW	13	49,369,609 (GRCm38)	missense	probably benign	0.43
R7395:Bicd2	UTSW	13	49,378,230 (GRCm38)	missense	possibly damaging	0.79
R7448:Bicd2	UTSW	13	49,379,951 (GRCm38)	missense	probably damaging	1.00
R8082:Bicd2	UTSW	13	49,379,053 (GRCm38)	nonsense	probably null
R8247:Bicd2	UTSW	13	49,379,986 (GRCm38)	missense	probably damaging	1.00
R8726:Bicd2	UTSW	13	49,379,429 (GRCm38)	missense	probably damaging	0.99
T0722:Bicd2	UTSW	13	49,379,651 (GRCm38)	missense	probably benign	0.05
X0003:Bicd2	UTSW	13	49,379,651 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCTCTGCTGGAGAAGGCTAG -3'
(R):5'- ATCTGGTCTCGGATGATGGC -3'

Sequencing Primer
(F):5'- TGCTGGCCCATCTGGAAAAG -3'
(R):5'- CTCGGATGATGGCGATCAG -3'

Posted On

2019-11-26