Incidental Mutation 'IGL02626:Cdk5rap1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk5rap1
Ensembl Gene ENSMUSG00000027487
Gene NameCDK5 regulatory subunit associated protein 1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.679) question?
Stock #IGL02626
Quality Score
Chromosomal Location154335380-154373010 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 154365960 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028990] [ENSMUST00000109730] [ENSMUST00000109731]
Predicted Effect probably null
Transcript: ENSMUST00000028990
SMART Domains Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487

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: ENSMUST00000109730
SMART Domains Protein: ENSMUSP00000105352
Gene: ENSMUSG00000027487

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

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: ENSMUST00000137918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150308
Coding Region Coverage
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,065,609 K1236E probably damaging Het
Actl7a A T 4: 56,744,353 E293D possibly damaging Het
Adamts2 T C 11: 50,776,255 Y460H probably damaging Het
Aoc1 G A 6: 48,906,110 V307I probably benign Het
Ar C T X: 98,314,886 H756Y probably damaging Het
Atg3 C T 16: 45,183,685 R224W probably benign Het
Atp5o G A 16: 91,686,313 P47S probably damaging Het
Bicd1 A G 6: 149,409,556 E43G probably damaging Het
Ccdc129 T A 6: 55,968,646 V784D probably benign Het
Ccdc88c A G 12: 100,967,800 probably benign Het
Cd33 A G 7: 43,530,312 probably benign Het
Cd36 T A 5: 17,797,128 R292* probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh23 T C 10: 60,391,801 D1167G probably damaging Het
Chd6 A G 2: 161,039,350 probably benign Het
Chd7 A T 4: 8,826,519 Y961F probably damaging Het
Cpe T C 8: 64,692,795 E52G probably benign Het
Cpne5 C T 17: 29,160,337 G491S probably damaging Het
Csmd3 A T 15: 47,704,107 probably benign Het
Ctbp2 T A 7: 132,999,211 T608S probably benign Het
Cybb A G X: 9,469,200 probably null Het
Daam2 T C 17: 49,490,254 T168A possibly damaging Het
Dnah5 G T 15: 28,307,276 V1717F possibly damaging Het
Dse G A 10: 34,153,162 T644I probably damaging Het
Dtd2 A C 12: 52,004,925 Y45* probably null Het
Fgfr1op2 T A 6: 146,590,011 M124K probably benign Het
Flii T C 11: 60,719,859 D537G probably benign Het
Fntb T A 12: 76,897,371 I217N probably benign Het
Foxi1 A G 11: 34,205,860 S257P probably benign Het
Fyn G A 10: 39,526,802 R190H probably damaging Het
Gm28557 T A 13: 67,074,944 T8S probably benign Het
Gramd1b T C 9: 40,298,010 K873E probably damaging Het
Grb10 T C 11: 11,945,503 T329A probably benign Het
Haus5 A G 7: 30,657,250 L477P probably damaging Het
Hectd4 A T 5: 121,353,881 E3761V possibly damaging Het
Ift172 T C 5: 31,264,496 I930V probably benign Het
Izumo2 A G 7: 44,709,136 probably benign Het
Map4k4 A G 1: 40,014,097 probably benign Het
Morc1 A G 16: 48,615,760 S753G probably damaging Het
Mpzl2 C T 9: 45,044,292 T167I probably damaging Het
Mta2 T A 19: 8,949,168 I491N probably damaging Het
Myo18b A T 5: 112,878,085 I33N unknown Het
Nub1 C T 5: 24,703,464 H404Y possibly damaging Het
Olfr1311 A T 2: 112,021,113 V247E probably damaging Het
Olfr1337 T C 4: 118,782,334 M84V probably damaging Het
Olfr74 T C 2: 87,973,724 N314D probably benign Het
Olfr926 T C 9: 38,877,488 L104S probably benign Het
Ralyl A T 3: 13,777,034 M77L probably benign Het
Rap1gap T A 4: 137,727,053 V649E probably benign Het
Rnf40 C A 7: 127,596,572 Q663K probably damaging Het
Slc22a18 T C 7: 143,499,100 L354P probably damaging Het
Slc9a8 T C 2: 167,467,677 probably benign Het
Surf4 C T 2: 26,925,607 probably null Het
T A T 17: 8,435,237 N85Y probably damaging Het
Tanc1 A G 2: 59,799,872 E732G probably damaging Het
Tas2r138 A G 6: 40,612,715 V199A possibly damaging Het
Trim43b T C 9: 89,085,488 Y365C possibly damaging Het
Ubd T C 17: 37,195,682 L153P probably damaging Het
Xpnpep2 A C X: 48,126,909 M513L probably benign Het
Zar1l C T 5: 150,517,745 G139R probably damaging Het
Zc3hav1 T G 6: 38,332,991 T299P probably damaging Het
Zfp236 C A 18: 82,657,995 probably benign Het
Other mutations in Cdk5rap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Cdk5rap1 APN 2 154366036 missense probably damaging 1.00
IGL02162:Cdk5rap1 APN 2 154335569 missense probably damaging 0.98
IGL03278:Cdk5rap1 APN 2 154370702 missense probably benign 0.00
R1052:Cdk5rap1 UTSW 2 154360599 missense possibly damaging 0.96
R1333:Cdk5rap1 UTSW 2 154360654 missense probably damaging 0.97
R1552:Cdk5rap1 UTSW 2 154370695 missense probably benign 0.00
R1553:Cdk5rap1 UTSW 2 154352251 missense probably damaging 1.00
R2107:Cdk5rap1 UTSW 2 154353246 missense probably benign 0.22
R3946:Cdk5rap1 UTSW 2 154348716 missense probably damaging 1.00
R4126:Cdk5rap1 UTSW 2 154368895 missense probably damaging 1.00
R4715:Cdk5rap1 UTSW 2 154361835 makesense probably null
R4865:Cdk5rap1 UTSW 2 154370956 critical splice acceptor site probably null
R4866:Cdk5rap1 UTSW 2 154370956 critical splice acceptor site probably null
R4867:Cdk5rap1 UTSW 2 154370956 critical splice acceptor site probably null
R4946:Cdk5rap1 UTSW 2 154368874 missense possibly damaging 0.91
R5087:Cdk5rap1 UTSW 2 154342395 missense probably damaging 1.00
R5319:Cdk5rap1 UTSW 2 154335569 missense possibly damaging 0.62
R5383:Cdk5rap1 UTSW 2 154350835 missense possibly damaging 0.78
R5582:Cdk5rap1 UTSW 2 154345974 missense probably benign 0.01
R5780:Cdk5rap1 UTSW 2 154345868 frame shift probably null
R6262:Cdk5rap1 UTSW 2 154370686 missense probably benign 0.04
R6274:Cdk5rap1 UTSW 2 154368241 missense probably damaging 0.99
R7263:Cdk5rap1 UTSW 2 154360732 missense probably benign 0.12
R7388:Cdk5rap1 UTSW 2 154360675 missense probably damaging 1.00
R7650:Cdk5rap1 UTSW 2 154354116 missense probably benign 0.01
R8424:Cdk5rap1 UTSW 2 154346012 missense probably damaging 1.00
R8694:Cdk5rap1 UTSW 2 154353228 nonsense probably null
Posted On2015-04-16