Incidental Mutation 'R1052:Cdk5rap1'
| ID |
94022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk5rap1
|
| Ensembl Gene |
ENSMUSG00000027487 |
| Gene Name |
CDK5 regulatory subunit associated protein 1 |
| Synonyms |
2310066P17Rik |
| MMRRC Submission |
039142-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R1052 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154177300-154214930 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154202519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 237
(I237N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028990]
[ENSMUST00000109730]
[ENSMUST00000109731]
|
| AlphaFold |
Q8BTW8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028990
AA Change: I237N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487
AA Change: I237N
| 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 |
possibly damaging
Transcript: ENSMUST00000109731
AA Change: I237N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487
AA Change: I237N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148289
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,535,417 (GRCm39) |
Y528F |
possibly damaging |
Het |
| Acad10 |
G |
A |
5: 121,787,604 (GRCm39) |
T115I |
possibly damaging |
Het |
| Adam19 |
T |
C |
11: 46,018,092 (GRCm39) |
F385L |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,318,357 (GRCm39) |
N162D |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,757,570 (GRCm39) |
P521T |
probably damaging |
Het |
| Arsa |
A |
T |
15: 89,359,380 (GRCm39) |
L134Q |
probably damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,925,921 (GRCm39) |
Y508C |
probably damaging |
Het |
| AW554918 |
G |
A |
18: 25,553,067 (GRCm39) |
M287I |
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,621,360 (GRCm39) |
K395E |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,277,294 (GRCm39) |
Y669C |
probably damaging |
Het |
| Casq2 |
T |
C |
3: 102,051,550 (GRCm39) |
|
probably null |
Het |
| Cerk |
G |
C |
15: 86,033,565 (GRCm39) |
S286C |
possibly damaging |
Het |
| Cir1 |
A |
C |
2: 73,117,987 (GRCm39) |
L186R |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,936,781 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
A |
T |
5: 145,642,621 (GRCm39) |
I246K |
possibly damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,348 (GRCm39) |
F328S |
possibly damaging |
Het |
| Dzank1 |
A |
T |
2: 144,355,365 (GRCm39) |
V110D |
probably benign |
Het |
| Gm6729 |
T |
A |
10: 86,376,799 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,604,246 (GRCm39) |
F246L |
probably benign |
Het |
| Gnpat |
T |
A |
8: 125,605,255 (GRCm39) |
L248H |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,266 (GRCm39) |
T163A |
probably benign |
Het |
| Hspa5 |
A |
G |
2: 34,665,110 (GRCm39) |
T424A |
probably damaging |
Het |
| Itgb1 |
T |
G |
8: 129,439,786 (GRCm39) |
D158E |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,819,853 (GRCm39) |
V1637A |
probably benign |
Het |
| Kl |
G |
T |
5: 150,905,985 (GRCm39) |
V452F |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,369,045 (GRCm39) |
N416S |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,968,241 (GRCm39) |
H1461L |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,818,814 (GRCm39) |
T1180A |
probably benign |
Het |
| Mboat2 |
T |
C |
12: 24,996,527 (GRCm39) |
Y145H |
probably damaging |
Het |
| Mlxipl |
T |
A |
5: 135,142,564 (GRCm39) |
I126N |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,620,181 (GRCm39) |
N1577K |
possibly damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,332,897 (GRCm39) |
V87A |
possibly damaging |
Het |
| Or5al5 |
A |
G |
2: 85,961,915 (GRCm39) |
F31L |
probably benign |
Het |
| Or6p1 |
A |
T |
1: 174,258,701 (GRCm39) |
K236* |
probably null |
Het |
| Pask |
A |
T |
1: 93,258,549 (GRCm39) |
D266E |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,899 (GRCm39) |
Y563C |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,349,837 (GRCm39) |
I49N |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,334 (GRCm39) |
V292E |
possibly damaging |
Het |
| Pramel23 |
T |
C |
4: 143,423,477 (GRCm39) |
I437M |
possibly damaging |
Het |
| Prrt4 |
G |
T |
6: 29,169,813 (GRCm39) |
Q880K |
possibly damaging |
Het |
| Pygb |
A |
G |
2: 150,628,858 (GRCm39) |
D24G |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,552,093 (GRCm39) |
D363E |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,001,574 (GRCm39) |
Q1676P |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,795,683 (GRCm39) |
R1069L |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc2a13 |
A |
G |
15: 91,296,363 (GRCm39) |
V317A |
probably damaging |
Het |
| Slc35b4 |
A |
T |
6: 34,138,619 (GRCm39) |
F197I |
probably damaging |
Het |
| Tchhl1 |
G |
A |
3: 93,377,520 (GRCm39) |
V75I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,771 (GRCm39) |
S3521P |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp335 |
GTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTC |
2: 164,749,388 (GRCm39) |
|
probably benign |
Het |
| Zfp874a |
T |
G |
13: 67,590,539 (GRCm39) |
I382L |
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 |
|
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 |
|
R9466:Cdk5rap1
|
UTSW |
2 |
154,192,756 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGGCCTCAGATTGCAAGCATATAC -3'
(R):5'- TATCAGGCACTGAGTTCCATCTCCAGC -3'
Sequencing Primer
(F):5'- cgagaggcagaggcagg -3'
(R):5'- ATTTGAAAATAGGGGTTCAGTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation