Incidental Mutation 'R9466:Cdk5rap1'
| ID |
715149 |
| 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 # |
R9466 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154177300-154214930 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 154192756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 414
(V414F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028990]
[ENSMUST00000109731]
|
| AlphaFold |
Q8BTW8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028990
AA Change: V414F
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487
AA Change: V414F
| 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 |
possibly damaging
Transcript: ENSMUST00000109731
AA Change: V414F
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487
AA Change: V414F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,248,092 (GRCm38) |
S397P |
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,124,825 (GRCm39) |
S486C |
|
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,851,484 (GRCm39) |
Y928N |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,048,584 (GRCm39) |
T253A |
possibly damaging |
Het |
| Brsk2 |
A |
T |
7: 141,536,800 (GRCm39) |
Y91F |
probably benign |
Het |
| C7 |
C |
T |
15: 5,044,884 (GRCm39) |
V385I |
probably benign |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Cyp2d26 |
A |
T |
15: 82,674,424 (GRCm39) |
M486K |
probably benign |
Het |
| Dchs2 |
G |
T |
3: 83,176,564 (GRCm39) |
A841S |
probably damaging |
Het |
| Dnajb1 |
T |
G |
8: 84,337,384 (GRCm39) |
V320G |
probably damaging |
Het |
| Dusp10 |
T |
C |
1: 183,769,234 (GRCm39) |
S67P |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,414 (GRCm39) |
T548A |
probably benign |
Het |
| Grhl3 |
A |
T |
4: 135,283,412 (GRCm39) |
S276T |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,119,483 (GRCm39) |
N331K |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,193,445 (GRCm39) |
Q519L |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kdm4b |
A |
C |
17: 56,696,548 (GRCm39) |
E421D |
probably benign |
Het |
| Krt6b |
A |
T |
15: 101,586,027 (GRCm39) |
Y349N |
probably damaging |
Het |
| Larp1 |
T |
C |
11: 57,943,461 (GRCm39) |
S845P |
possibly damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nup98 |
G |
A |
7: 101,818,611 (GRCm39) |
S473L |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,631,796 (GRCm39) |
M1K |
probably null |
Het |
| Or14c45 |
C |
G |
7: 86,176,080 (GRCm39) |
F38L |
probably benign |
Het |
| Or8g28 |
T |
A |
9: 39,169,491 (GRCm39) |
H159L |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,887,484 (GRCm39) |
R265H |
|
Het |
| Pgap3 |
C |
T |
11: 98,289,796 (GRCm39) |
R65Q |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
C |
A |
2: 160,596,520 (GRCm39) |
H680N |
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,081 (GRCm39) |
D194V |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,123,799 (GRCm39) |
D158G |
probably benign |
Het |
| Prkd2 |
A |
T |
7: 16,589,696 (GRCm39) |
H466L |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,049 (GRCm39) |
I683V |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,503,258 (GRCm39) |
H2734Q |
possibly damaging |
Het |
| Scnn1b |
A |
T |
7: 121,502,013 (GRCm39) |
I224F |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,872,910 (GRCm39) |
|
probably null |
Het |
| Syt15 |
C |
T |
14: 33,942,991 (GRCm39) |
L17F |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,199,252 (GRCm39) |
F15S |
possibly damaging |
Het |
| Thsd7b |
A |
G |
1: 130,122,866 (GRCm39) |
K1495R |
probably benign |
Het |
| Ttc28 |
T |
C |
5: 111,330,895 (GRCm39) |
S372P |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,317 (GRCm39) |
Y260* |
probably null |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,417 (GRCm39) |
V227A |
probably 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 |
|
R9413:Cdk5rap1
|
UTSW |
2 |
154,207,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9453:Cdk5rap1
|
UTSW |
2 |
154,190,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGGCATGAGCAACAC -3'
(R):5'- CCTATGATGCTAGCAGTTGGGAG -3'
Sequencing Primer
(F):5'- GGCATGAGCAACACACACAG -3'
(R):5'- CTAGCAGTTGGGAGGTAGAGCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation