Incidental Mutation 'R6348:Bicd2'
| ID |
514457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicd2
|
| Ensembl Gene |
ENSMUSG00000037933 |
| Gene Name |
BICD cargo adaptor 2 |
| Synonyms |
1110005D12Rik, 0610027D24Rik |
| MMRRC Submission |
044502-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.486)
|
| Stock # |
R6348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49495061-49540502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49533322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 636
(H636R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048544]
[ENSMUST00000110084]
[ENSMUST00000110085]
[ENSMUST00000220723]
|
| AlphaFold |
Q921C5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048544
AA Change: H636R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039394
Gene: ENSMUSG00000037933
AA Change: H636R
| 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: H562R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105711
Gene: ENSMUSG00000037933
AA Change: H562R
| 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: H636R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105712
Gene: ENSMUSG00000037933
AA Change: H636R
| 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
|
| Meta Mutation Damage Score |
0.8769 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
| Arhgef16 |
G |
T |
4: 154,371,540 (GRCm39) |
Q218K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
| Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,357,271 (GRCm39) |
V52D |
probably benign |
Het |
| Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
| Crlf1 |
T |
C |
8: 70,945,990 (GRCm39) |
S22P |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
| Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
G |
A |
1: 173,417,848 (GRCm39) |
T188I |
possibly damaging |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
T |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
| Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8k24 |
T |
A |
2: 86,216,513 (GRCm39) |
Q83L |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
| P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
| Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
| Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
| Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
| Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
| Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
| Speer2 |
T |
C |
16: 69,654,895 (GRCm39) |
D190G |
possibly damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
| Tmem210 |
T |
C |
2: 25,178,796 (GRCm39) |
S82P |
probably benign |
Het |
| Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
Het |
| Zbtb26 |
C |
T |
2: 37,325,687 (GRCm39) |
V450M |
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 |
|
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'- GACTATTATCGTGAGGGCCAG -3'
(R):5'- TGCTTGTTGGCCTTGAGCAC -3'
Sequencing Primer
(F):5'- CGCCGGTCACCTGTCCTC -3'
(R):5'- GGCCTTGAGCACGGTGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation