Incidental Mutation 'R5780:Cdk5rap1'
| ID |
446915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk5rap1
|
| Ensembl Gene |
ENSMUSG00000027487 |
| Gene Name |
CDK5 regulatory subunit associated protein 1 |
| Synonyms |
2310066P17Rik |
| MMRRC Submission |
043205-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R5780 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154177300-154214930 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CTT to CT
at 154187788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028990]
[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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152180
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
C |
T |
1: 85,646,039 (GRCm39) |
A189T |
probably benign |
Het |
| Acsm4 |
A |
G |
7: 119,293,068 (GRCm39) |
E66G |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,699,290 (GRCm39) |
E578G |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,397,310 (GRCm39) |
D291E |
probably benign |
Het |
| Apoa4 |
A |
G |
9: 46,153,890 (GRCm39) |
M164V |
possibly damaging |
Het |
| Atp6v1a |
A |
T |
16: 43,935,006 (GRCm39) |
M61K |
probably benign |
Het |
| Avp |
A |
G |
2: 130,422,629 (GRCm39) |
S159P |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,713,679 (GRCm39) |
L841Q |
possibly damaging |
Het |
| Clasp2 |
T |
G |
9: 113,679,220 (GRCm39) |
L246R |
probably damaging |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,477,040 (GRCm39) |
D227G |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,522,478 (GRCm39) |
A2920V |
probably benign |
Het |
| Epb41l1 |
C |
T |
2: 156,338,445 (GRCm39) |
R163W |
probably damaging |
Het |
| Etfbkmt |
T |
A |
6: 149,048,657 (GRCm39) |
Y99N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,035,104 (GRCm39) |
Y2919H |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,643 (GRCm39) |
D234E |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,868,652 (GRCm39) |
D1443G |
probably benign |
Het |
| Fscn2 |
A |
C |
11: 120,257,494 (GRCm39) |
E285A |
probably benign |
Het |
| Hmga2 |
T |
A |
10: 120,298,583 (GRCm39) |
R79* |
probably null |
Het |
| Hrh3 |
A |
T |
2: 179,742,608 (GRCm39) |
V308E |
probably damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,248,787 (GRCm39) |
G93D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,312,712 (GRCm39) |
F4151S |
probably damaging |
Het |
| Ica1l |
C |
A |
1: 60,067,374 (GRCm39) |
E5D |
probably benign |
Het |
| Kcnma1 |
C |
A |
14: 23,436,419 (GRCm39) |
E640* |
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,722,950 (GRCm39) |
H2422Y |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,299,269 (GRCm39) |
T47A |
probably damaging |
Het |
| Mmp13 |
T |
G |
9: 7,278,952 (GRCm39) |
F348V |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,181 (GRCm39) |
D675G |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,860,410 (GRCm39) |
C1610R |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,686,804 (GRCm39) |
Q68L |
probably damaging |
Het |
| Or4k41 |
A |
T |
2: 111,280,178 (GRCm39) |
D231V |
probably benign |
Het |
| Or6c208 |
T |
C |
10: 129,223,939 (GRCm39) |
S146P |
probably damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,793 (GRCm39) |
M127K |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,174,997 (GRCm39) |
I751N |
probably damaging |
Het |
| Pramel19 |
C |
T |
4: 101,798,724 (GRCm39) |
L232F |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,435,593 (GRCm39) |
T3A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,070,953 (GRCm39) |
C34S |
probably damaging |
Het |
| Sema3f |
A |
G |
9: 107,559,788 (GRCm39) |
L702P |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,774,695 (GRCm39) |
L116Q |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,533,877 (GRCm39) |
V3378A |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,282,976 (GRCm39) |
I158V |
possibly damaging |
Het |
| Tbc1d10b |
G |
A |
7: 126,797,925 (GRCm39) |
R739W |
possibly damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Ube4b |
C |
T |
4: 149,415,821 (GRCm39) |
R1091Q |
probably benign |
Het |
| Vwce |
C |
A |
19: 10,627,983 (GRCm39) |
P481Q |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,139 (GRCm39) |
M33K |
probably benign |
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 |
|
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'- AGTTTGCCAAGGTCATAAGACAC -3'
(R):5'- GGATTTGACAAGTCCTTAATGACC -3'
Sequencing Primer
(F):5'- ACCTGAGCATGATGGTGTAATCCC -3'
(R):5'- GACAAGTCCTTAATGACCTTTATCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation