Incidental Mutation 'R5782:Cdk5rap3'
ID447819
Institutional Source Beutler Lab
Gene Symbol Cdk5rap3
Ensembl Gene ENSMUSG00000018669
Gene NameCDK5 regulatory subunit associated protein 3
SynonymsHSF-27, IC53, OK/SW-cl.114, 1810007E24Rik, MST016, C53
MMRRC Submission 043379-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5782 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location96907426-96916496 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96911586 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 254 (L254P)
Ref Sequence ENSEMBL: ENSMUSP00000099441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103152] [ENSMUST00000127048] [ENSMUST00000130774] [ENSMUST00000134732] [ENSMUST00000144731] [ENSMUST00000147573] [ENSMUST00000153305] [ENSMUST00000156315]
Predicted Effect probably benign
Transcript: ENSMUST00000103152
AA Change: L254P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099441
Gene: ENSMUSG00000018669
AA Change: L254P

DomainStartEndE-ValueType
Pfam:DUF773 4 500 3.7e-195 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127048
SMART Domains Protein: ENSMUSP00000114849
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 145 1.4e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130767
Predicted Effect probably benign
Transcript: ENSMUST00000130774
SMART Domains Protein: ENSMUSP00000114661
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 80 1.6e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131501
Predicted Effect probably benign
Transcript: ENSMUST00000134732
SMART Domains Protein: ENSMUSP00000120258
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 107 4.7e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144731
SMART Domains Protein: ENSMUSP00000114724
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 124 9.8e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149033
Predicted Effect probably benign
Transcript: ENSMUST00000153305
SMART Domains Protein: ENSMUSP00000116405
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 115 4.2e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154289
Predicted Effect probably benign
Transcript: ENSMUST00000156315
SMART Domains Protein: ENSMUSP00000123113
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 140 2.2e-79 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F05Rik T C 10: 43,532,903 I81M probably benign Het
2810403A07Rik T G 3: 88,711,678 V563G probably damaging Het
9130011E15Rik A G 19: 45,886,027 V569A probably benign Het
Actl9 A T 17: 33,433,761 Q265L probably benign Het
Adamtsl3 T A 7: 82,540,286 probably null Het
Agt A T 8: 124,557,131 probably null Het
Ankrd11 A G 8: 122,900,017 L142P probably damaging Het
Arhgef19 C A 4: 141,256,312 Q719K probably damaging Het
Atrnl1 G T 19: 57,753,286 W1159L possibly damaging Het
Atxn2 T C 5: 121,797,310 Y325H probably damaging Het
Brwd1 A T 16: 96,043,043 Y770* probably null Het
Cdc20 T C 4: 118,433,042 E474G probably benign Het
Cep83 A T 10: 94,749,032 N333I probably damaging Het
Cox4i2 A C 2: 152,764,811 D150A probably damaging Het
Cse1l A G 2: 166,929,001 I314M probably damaging Het
Cuedc1 A G 11: 88,170,032 Y67C probably damaging Het
Cyp2j9 C T 4: 96,573,905 V380I probably benign Het
D3Ertd254e T C 3: 36,164,979 S384P possibly damaging Het
Fancd2 A G 6: 113,548,872 N302S probably benign Het
Foxa1 T A 12: 57,542,516 H306L probably benign Het
Gm21994 T C 2: 150,255,518 E25G probably benign Het
Gse1 T C 8: 120,566,521 S204P probably damaging Het
Hspa13 C A 16: 75,758,097 R367L probably damaging Het
Kcnk2 T G 1: 189,256,579 D267A probably damaging Het
Kctd18 A G 1: 57,959,237 Y68H probably damaging Het
Klf7 C T 1: 64,042,411 E253K possibly damaging Het
Lcn12 A T 2: 25,493,757 F34I probably damaging Het
Lrrk2 A T 15: 91,702,183 R401W probably damaging Het
Lzts1 A T 8: 69,140,698 S86T probably benign Het
Mtus1 T A 8: 41,082,727 I651F probably damaging Het
Myl2 T A 5: 122,104,870 F106L probably damaging Het
Neb T A 2: 52,264,047 K2351* probably null Het
Olfr297 T A 7: 86,527,213 I152N probably damaging Het
Olfr678 T C 7: 105,069,749 I94T probably damaging Het
Otogl G A 10: 107,777,117 silent Het
Parg A T 14: 32,274,905 R318* probably null Het
Pcdhga3 C T 18: 37,676,300 S602F possibly damaging Het
Pcnx2 A G 8: 125,753,484 V2028A probably damaging Het
Pkhd1 T C 1: 20,058,600 T3960A probably benign Het
Psen1 T A 12: 83,712,459 H81Q possibly damaging Het
Psma6 A G 12: 55,410,256 N109S possibly damaging Het
Ptpro A T 6: 137,399,498 I659F possibly damaging Het
Rap1gds1 C G 3: 138,959,079 E288D possibly damaging Het
Reln C T 5: 22,018,056 R993K probably benign Het
Saxo1 T A 4: 86,445,807 L146F probably damaging Het
Six4 A G 12: 73,104,058 V571A probably benign Het
Slc2a10 C A 2: 165,514,838 Y139* probably null Het
Slc34a1 A G 13: 55,402,688 I66V possibly damaging Het
Slfn8 G T 11: 83,017,041 N46K probably damaging Het
Smc6 G C 12: 11,290,834 A496P probably damaging Het
Stk31 T G 6: 49,469,136 N902K probably benign Het
Stk36 T A 1: 74,605,425 Y114N possibly damaging Het
Sult2b1 C T 7: 45,731,346 V271M probably damaging Het
Tenm4 A G 7: 96,893,039 I1920V probably benign Het
Trbc2 A G 6: 41,546,937 probably benign Het
Trpc2 A G 7: 102,083,979 D419G possibly damaging Het
Trpm7 T C 2: 126,797,714 N1654S probably benign Het
Tsku A T 7: 98,352,850 D91E probably damaging Het
Ttn T A 2: 76,776,011 R18151S probably damaging Het
Tyr C T 7: 87,493,016 C112Y probably damaging Het
Ubash3a G A 17: 31,235,503 G435S probably benign Het
Vav1 T C 17: 57,296,001 I51T probably damaging Het
Vmn2r61 T A 7: 42,299,829 C558S probably damaging Het
Zan C T 5: 137,420,007 C2943Y unknown Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,412,514 probably benign Het
Zfp575 C A 7: 24,585,602 G205C possibly damaging Het
Zfp740 G T 15: 102,208,366 probably benign Het
Zzz3 A G 3: 152,428,100 E265G possibly damaging Het
Other mutations in Cdk5rap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Cdk5rap3 APN 11 96913399 missense probably damaging 1.00
IGL00958:Cdk5rap3 APN 11 96909967 missense probably benign 0.04
IGL00964:Cdk5rap3 APN 11 96909939 critical splice donor site probably null
IGL01767:Cdk5rap3 APN 11 96913465 missense probably damaging 1.00
IGL02321:Cdk5rap3 APN 11 96913465 missense probably damaging 1.00
IGL02352:Cdk5rap3 APN 11 96916177 missense probably damaging 1.00
R0032:Cdk5rap3 UTSW 11 96908753 missense possibly damaging 0.61
R0894:Cdk5rap3 UTSW 11 96908828 missense probably damaging 1.00
R1795:Cdk5rap3 UTSW 11 96908828 missense probably damaging 1.00
R5035:Cdk5rap3 UTSW 11 96916085 utr 5 prime probably benign
R5530:Cdk5rap3 UTSW 11 96911633 nonsense probably null
R6278:Cdk5rap3 UTSW 11 96911903 missense probably damaging 1.00
R6888:Cdk5rap3 UTSW 11 96916192 missense probably benign 0.33
R7526:Cdk5rap3 UTSW 11 96909945 missense probably benign 0.05
Z1177:Cdk5rap3 UTSW 11 96912216 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGCACTCTGGTCTCAGGAAAG -3'
(R):5'- CTGTGTTGGTAACTCGTGGACC -3'

Sequencing Primer
(F):5'- TCTGGTCTCAGGAAAGCCAGG -3'
(R):5'- TAACTCGTGGACCAGTGATTAG -3'
Posted On2016-12-15