Incidental Mutation 'R9413:Cdk5rap1'
ID |
711889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdk5rap1
|
Ensembl Gene |
ENSMUSG00000027487 |
Gene Name |
CDK5 regulatory subunit associated protein 1 |
Synonyms |
2310066P17Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.348)
|
Stock # |
R9413 (G1)
|
Quality Score |
211.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
154177300-154214930 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 154207880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028990
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028990]
[ENSMUST00000109730]
[ENSMUST00000109731]
|
AlphaFold |
Q8BTW8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028990
|
SMART Domains |
Protein: ENSMUSP00000028990 Gene: ENSMUSG00000027487
Domain | Start | End | E-Value | Type |
Pfam:UPF0004
|
100 |
203 |
3.2e-31 |
PFAM |
Elp3
|
247 |
486 |
4.83e-52 |
SMART |
Pfam:TRAM
|
500 |
574 |
1.2e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109730
|
SMART Domains |
Protein: ENSMUSP00000105352 Gene: ENSMUSG00000027487
Domain | Start | End | E-Value | Type |
Pfam:UPF0004
|
100 |
181 |
1.3e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109731
|
SMART Domains |
Protein: ENSMUSP00000105353 Gene: ENSMUSG00000027487
Domain | Start | End | E-Value | Type |
Pfam:UPF0004
|
100 |
203 |
1.1e-31 |
PFAM |
Elp3
|
247 |
486 |
4.83e-52 |
SMART |
Pfam:TRAM
|
500 |
574 |
1e-12 |
PFAM |
|
Meta Mutation Damage Score |
0.9506 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (35/36) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] PHENOTYPE: Mice homozygous for a null allele show deficient mitochondrial tRNA modification, reduced mitochondrial protein synthesis, defects in oxidative phosphorylation, high susceptibility to stress-induced mitochondrial remodeling, and accelerated myopathy and cardiac dysfunction under stressed conditions. [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 |
Abca16 |
A |
T |
7: 120,126,422 (GRCm39) |
T1194S |
probably benign |
Het |
Akr7a5 |
A |
T |
4: 139,038,059 (GRCm39) |
|
probably benign |
Het |
Ap3b2 |
G |
T |
7: 81,127,757 (GRCm39) |
P140T |
possibly damaging |
Het |
Ap3s1 |
T |
C |
18: 46,887,531 (GRCm39) |
|
probably null |
Het |
Arrdc2 |
C |
T |
8: 71,288,892 (GRCm39) |
R381H |
probably damaging |
Het |
Atg13 |
T |
C |
2: 91,511,970 (GRCm39) |
D286G |
probably benign |
Het |
C1qtnf4 |
T |
C |
2: 90,720,648 (GRCm39) |
F307S |
probably damaging |
Het |
Chsy3 |
C |
T |
18: 59,309,170 (GRCm39) |
A141V |
possibly damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
D5Ertd579e |
A |
G |
5: 36,772,278 (GRCm39) |
S706P |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,917,705 (GRCm39) |
D545G |
|
Het |
Ephb6 |
T |
C |
6: 41,591,509 (GRCm39) |
L222P |
|
Het |
Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
Gm6619 |
A |
T |
6: 131,468,370 (GRCm39) |
D167V |
unknown |
Het |
Gucy2c |
T |
C |
6: 136,700,771 (GRCm39) |
D581G |
possibly damaging |
Het |
Hectd1 |
G |
A |
12: 51,792,880 (GRCm39) |
R2471* |
probably null |
Het |
Kif1a |
A |
T |
1: 92,949,019 (GRCm39) |
M1501K |
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,392,321 (GRCm39) |
V390A |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Pex3 |
A |
G |
10: 13,410,454 (GRCm39) |
Y236H |
probably damaging |
Het |
Pglyrp3 |
G |
T |
3: 91,930,106 (GRCm39) |
A91S |
probably damaging |
Het |
Ppp1ca |
T |
C |
19: 4,244,897 (GRCm39) |
S292P |
probably damaging |
Het |
Prkci |
T |
C |
3: 31,097,915 (GRCm39) |
V455A |
probably damaging |
Het |
Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
Psd4 |
C |
T |
2: 24,287,472 (GRCm39) |
T468I |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,357,059 (GRCm39) |
E4203G |
|
Het |
Snrnp27 |
T |
C |
6: 86,653,255 (GRCm39) |
D121G |
possibly damaging |
Het |
Spag6 |
A |
T |
2: 18,739,029 (GRCm39) |
M320L |
probably benign |
Het |
Spata16 |
T |
A |
3: 26,978,486 (GRCm39) |
M484K |
possibly damaging |
Het |
Trim69 |
G |
A |
2: 122,009,083 (GRCm39) |
W381* |
probably null |
Het |
Tubgcp3 |
A |
C |
8: 12,674,885 (GRCm39) |
I745S |
probably damaging |
Het |
Ubxn2b |
A |
G |
4: 6,204,607 (GRCm39) |
D156G |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,158 (GRCm39) |
N644S |
possibly damaging |
Het |
|
Other mutations in Cdk5rap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01778:Cdk5rap1
|
APN |
2 |
154,207,956 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02162:Cdk5rap1
|
APN |
2 |
154,177,489 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02626:Cdk5rap1
|
APN |
2 |
154,207,880 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03278:Cdk5rap1
|
APN |
2 |
154,212,622 (GRCm39) |
missense |
probably benign |
0.00 |
R1052:Cdk5rap1
|
UTSW |
2 |
154,202,519 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1333:Cdk5rap1
|
UTSW |
2 |
154,202,574 (GRCm39) |
missense |
probably damaging |
0.97 |
R1552:Cdk5rap1
|
UTSW |
2 |
154,212,615 (GRCm39) |
missense |
probably benign |
0.00 |
R1553:Cdk5rap1
|
UTSW |
2 |
154,194,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R2107:Cdk5rap1
|
UTSW |
2 |
154,195,166 (GRCm39) |
missense |
probably benign |
0.22 |
R3946:Cdk5rap1
|
UTSW |
2 |
154,190,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4126:Cdk5rap1
|
UTSW |
2 |
154,210,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R4715:Cdk5rap1
|
UTSW |
2 |
154,203,755 (GRCm39) |
makesense |
probably null |
|
R4865:Cdk5rap1
|
UTSW |
2 |
154,212,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4866:Cdk5rap1
|
UTSW |
2 |
154,212,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4867:Cdk5rap1
|
UTSW |
2 |
154,212,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4946:Cdk5rap1
|
UTSW |
2 |
154,210,794 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5087:Cdk5rap1
|
UTSW |
2 |
154,184,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R5319:Cdk5rap1
|
UTSW |
2 |
154,177,489 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5383:Cdk5rap1
|
UTSW |
2 |
154,192,755 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5582:Cdk5rap1
|
UTSW |
2 |
154,187,894 (GRCm39) |
missense |
probably benign |
0.01 |
R5780:Cdk5rap1
|
UTSW |
2 |
154,187,788 (GRCm39) |
frame shift |
probably null |
|
R6262:Cdk5rap1
|
UTSW |
2 |
154,212,606 (GRCm39) |
missense |
probably benign |
0.04 |
R6274:Cdk5rap1
|
UTSW |
2 |
154,210,161 (GRCm39) |
missense |
probably damaging |
0.99 |
R7263:Cdk5rap1
|
UTSW |
2 |
154,202,652 (GRCm39) |
missense |
probably benign |
0.12 |
R7388:Cdk5rap1
|
UTSW |
2 |
154,202,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R7650:Cdk5rap1
|
UTSW |
2 |
154,196,036 (GRCm39) |
missense |
probably benign |
0.01 |
R8424:Cdk5rap1
|
UTSW |
2 |
154,187,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R8694:Cdk5rap1
|
UTSW |
2 |
154,195,148 (GRCm39) |
nonsense |
probably null |
|
R9295:Cdk5rap1
|
UTSW |
2 |
154,194,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R9453:Cdk5rap1
|
UTSW |
2 |
154,190,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R9466:Cdk5rap1
|
UTSW |
2 |
154,192,756 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAATCCTGGGACGAAGTC -3'
(R):5'- CTGAGTTAAAGGGAGATACCTGTG -3'
Sequencing Primer
(F):5'- CTCTACGGACCCTACATTTTTAGAG -3'
(R):5'- AAAGGGTTCACGTGGCTTTC -3'
|
Posted On |
2022-05-16 |