Incidental Mutation 'R5923:Cdr2'
| ID |
461677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdr2
|
| Ensembl Gene |
ENSMUSG00000030878 |
| Gene Name |
cerebellar degeneration-related 2 |
| Synonyms |
|
| MMRRC Submission |
043241-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5923 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120556259-120581535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120581224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 18
(Y18H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033166]
[ENSMUST00000033169]
[ENSMUST00000138177]
[ENSMUST00000140247]
[ENSMUST00000149535]
[ENSMUST00000216241]
|
| AlphaFold |
P97817 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033166
|
| SMART Domains |
Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
9 |
439 |
5.1e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033169
AA Change: Y18H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033169
Gene: ENSMUSG00000030878
AA Change: Y18H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
31 |
N/A |
INTRINSIC |
|
coiled coil region
|
37 |
141 |
N/A |
INTRINSIC |
|
coiled coil region
|
191 |
258 |
N/A |
INTRINSIC |
|
coiled coil region
|
345 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140247
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149535
|
| SMART Domains |
Protein: ENSMUSP00000115341
Gene: ENSMUSG00000030877
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207722
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216241
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile, and overtly normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
T |
G |
10: 120,614,675 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,051,378 (GRCm39) |
V106A |
probably benign |
Het |
| Arnt2 |
G |
T |
7: 83,911,741 (GRCm39) |
T577K |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,974,762 (GRCm39) |
T2184I |
probably damaging |
Het |
| Brpf3 |
G |
A |
17: 29,025,610 (GRCm39) |
V228I |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,833,105 (GRCm39) |
N890S |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,004,560 (GRCm39) |
M120K |
possibly damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,525 (GRCm39) |
F491S |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,490,889 (GRCm39) |
S185T |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,220,840 (GRCm39) |
S2215P |
probably benign |
Het |
| Echdc3 |
A |
G |
2: 6,194,383 (GRCm39) |
V224A |
possibly damaging |
Het |
| Hivep3 |
G |
T |
4: 119,953,490 (GRCm39) |
S602I |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 115,021,055 (GRCm39) |
S99G |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,429,495 (GRCm39) |
T1617A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,569,661 (GRCm39) |
E1020G |
unknown |
Het |
| Nbeal1 |
T |
C |
1: 60,287,554 (GRCm39) |
F933L |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 78,101,676 (GRCm39) |
I419N |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,194,102 (GRCm39) |
I136V |
probably benign |
Het |
| Or8b38 |
T |
A |
9: 37,973,154 (GRCm39) |
D179E |
probably benign |
Het |
| Plcb4 |
A |
T |
2: 135,803,734 (GRCm39) |
K536* |
probably null |
Het |
| Polk |
A |
T |
13: 96,631,923 (GRCm39) |
I270N |
probably damaging |
Het |
| Prl6a1 |
A |
T |
13: 27,500,346 (GRCm39) |
M106L |
probably benign |
Het |
| Scap |
G |
T |
9: 110,212,648 (GRCm39) |
D1027Y |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,923,959 (GRCm39) |
H787Q |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,781,507 (GRCm39) |
D215G |
probably damaging |
Het |
| Tbcd |
G |
A |
11: 121,470,978 (GRCm39) |
C665Y |
probably benign |
Het |
| Tmc8 |
C |
T |
11: 117,674,638 (GRCm39) |
R118C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,642,901 (GRCm39) |
H13245L |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,727 (GRCm39) |
S1631P |
probably damaging |
Het |
| Vmn1r12 |
G |
A |
6: 57,136,020 (GRCm39) |
G39D |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,751 (GRCm39) |
S693G |
probably damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,657,413 (GRCm39) |
R593S |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,523 (GRCm39) |
L200P |
probably damaging |
Het |
|
| Other mutations in Cdr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01659:Cdr2
|
APN |
7 |
120,557,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0394:Cdr2
|
UTSW |
7 |
120,557,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Cdr2
|
UTSW |
7 |
120,557,614 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1781:Cdr2
|
UTSW |
7 |
120,557,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1906:Cdr2
|
UTSW |
7 |
120,581,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Cdr2
|
UTSW |
7 |
120,581,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Cdr2
|
UTSW |
7 |
120,557,732 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2274:Cdr2
|
UTSW |
7 |
120,557,732 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2275:Cdr2
|
UTSW |
7 |
120,557,732 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2362:Cdr2
|
UTSW |
7 |
120,569,554 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4783:Cdr2
|
UTSW |
7 |
120,557,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5269:Cdr2
|
UTSW |
7 |
120,557,557 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5403:Cdr2
|
UTSW |
7 |
120,557,968 (GRCm39) |
nonsense |
probably null |
|
|
R5650:Cdr2
|
UTSW |
7 |
120,557,559 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6384:Cdr2
|
UTSW |
7 |
120,581,351 (GRCm39) |
splice site |
probably null |
|
|
R7073:Cdr2
|
UTSW |
7 |
120,581,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Cdr2
|
UTSW |
7 |
120,557,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9111:Cdr2
|
UTSW |
7 |
120,559,345 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGGTCCATCCGCTCATAC -3'
(R):5'- TCTGCCAAAGTGCCACGTTG -3'
Sequencing Primer
(F):5'- CGGCAAGCGCTTTCTTAAAG -3'
(R):5'- GAGAGCTGCTGCGGGAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation