Incidental Mutation 'R6568:Doc2b'
| ID |
526340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Doc2b
|
| Ensembl Gene |
ENSMUSG00000020848 |
| Gene Name |
double C2, beta |
| Synonyms |
|
| MMRRC Submission |
044692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6568 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75659792-75686875 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 75667820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021209]
|
| AlphaFold |
P70169 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021209
|
| SMART Domains |
Protein: ENSMUSP00000021209
Gene: ENSMUSG00000020848
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
9 |
38 |
8e-8 |
BLAST |
|
low complexity region
|
41 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
C2
|
142 |
247 |
4.69e-21 |
SMART |
|
C2
|
282 |
396 |
4.69e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a calcium sensor involved in glucose-stimulated insulin secretion, spontaneous neurotransmitter release, and enhanced SNARE-dependent vesicle fusion. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduced frequency of spontaneous neurotransmitter release events with cerebellar Purkinje cells showing continuous spiking without interruption. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
C |
1: 138,779,872 (GRCm39) |
K127E |
possibly damaging |
Het |
| Ash1l |
G |
A |
3: 88,959,344 (GRCm39) |
M2240I |
probably benign |
Het |
| Bhmt1b |
A |
T |
18: 87,775,566 (GRCm39) |
Y363F |
probably benign |
Het |
| Ccr5 |
G |
A |
9: 123,925,236 (GRCm39) |
A280T |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,479,416 (GRCm39) |
L178F |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,875,157 (GRCm39) |
N1259S |
unknown |
Het |
| Fryl |
T |
C |
5: 73,216,859 (GRCm39) |
N2144D |
probably damaging |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,017 (GRCm39) |
Y336C |
probably damaging |
Het |
| Ighv1-34 |
A |
T |
12: 114,815,231 (GRCm39) |
W5R |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,122,434 (GRCm39) |
V497A |
probably benign |
Het |
| Miip |
T |
A |
4: 147,950,372 (GRCm39) |
M75L |
probably benign |
Het |
| Mplkip |
T |
C |
13: 17,870,262 (GRCm39) |
S65P |
probably damaging |
Het |
| Ms4a13 |
A |
G |
19: 11,168,923 (GRCm39) |
L34P |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,855 (GRCm39) |
S896P |
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,641 (GRCm39) |
C112S |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,470,767 (GRCm39) |
M136K |
probably damaging |
Het |
| Rgsl1 |
A |
C |
1: 153,697,292 (GRCm39) |
W508G |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,038,908 (GRCm39) |
M354K |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,226,476 (GRCm39) |
L533P |
probably damaging |
Het |
| Taf2 |
G |
A |
15: 54,928,026 (GRCm39) |
L126F |
probably damaging |
Het |
| Tlr12 |
T |
C |
4: 128,511,785 (GRCm39) |
D155G |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Zfp942 |
T |
G |
17: 22,148,043 (GRCm39) |
K195N |
probably benign |
Het |
|
| Other mutations in Doc2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0241:Doc2b
|
UTSW |
11 |
75,663,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Doc2b
|
UTSW |
11 |
75,663,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0567:Doc2b
|
UTSW |
11 |
75,670,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Doc2b
|
UTSW |
11 |
75,670,981 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1539:Doc2b
|
UTSW |
11 |
75,662,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Doc2b
|
UTSW |
11 |
75,667,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5260:Doc2b
|
UTSW |
11 |
75,676,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Doc2b
|
UTSW |
11 |
75,670,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Doc2b
|
UTSW |
11 |
75,662,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5789:Doc2b
|
UTSW |
11 |
75,676,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5805:Doc2b
|
UTSW |
11 |
75,663,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Doc2b
|
UTSW |
11 |
75,663,412 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6146:Doc2b
|
UTSW |
11 |
75,664,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6295:Doc2b
|
UTSW |
11 |
75,686,451 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6295:Doc2b
|
UTSW |
11 |
75,671,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Doc2b
|
UTSW |
11 |
75,667,898 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGATAACTATTCCCTCTCCCACTG -3'
(R):5'- AGCCTCACTGTCTGCTTAGC -3'
Sequencing Primer
(F):5'- GAAATGAGACGGCTTTGCTTAACCC -3'
(R):5'- CTCACTGTCTGCTTAGCTAGGAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation