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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:UPF0004 100 181 1.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109731
SMART Domains Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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