Incidental Mutation 'R8197:Cdk5rap3'
ID 635505
Institutional Source Beutler Lab
Gene Symbol Cdk5rap3
Ensembl Gene ENSMUSG00000018669
Gene Name CDK5 regulatory subunit associated protein 3
Synonyms HSF-27, MST016, OK/SW-cl.114, 1810007E24Rik, C53, IC53
MMRRC Submission 067620-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8197 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 96798252-96807322 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 96806975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103152] [ENSMUST00000127048] [ENSMUST00000130774] [ENSMUST00000134732] [ENSMUST00000144731] [ENSMUST00000147573] [ENSMUST00000153305] [ENSMUST00000156315]
AlphaFold Q99LM2
Predicted Effect probably null
Transcript: ENSMUST00000103152
SMART Domains Protein: ENSMUSP00000099441
Gene: ENSMUSG00000018669

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

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

DomainStartEndE-ValueType
Pfam:DUF773 1 80 1.6e-49 PFAM
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 null
Transcript: ENSMUST00000144731
SMART Domains Protein: ENSMUSP00000114724
Gene: ENSMUSG00000018669

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

DomainStartEndE-ValueType
Pfam:DUF773 1 115 4.2e-71 PFAM
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 96% (46/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,780,628 (GRCm39) D836E probably benign Het
Abca6 A C 11: 110,102,641 (GRCm39) L861R probably damaging Het
Adamts18 G T 8: 114,481,227 (GRCm39) A560E probably damaging Het
Adra2b A T 2: 127,206,578 (GRCm39) Q365L possibly damaging Het
Anxa3 A G 5: 96,982,651 (GRCm39) T250A probably benign Het
B4galt5 T A 2: 167,144,023 (GRCm39) N309I probably benign Het
Bub1 G T 2: 127,643,177 (GRCm39) R1056S probably damaging Het
Ccdc185 G T 1: 182,576,324 (GRCm39) P122T possibly damaging Het
Cntnap4 T A 8: 113,296,857 (GRCm39) Y31N probably benign Het
Crygc T C 1: 65,112,365 (GRCm39) M70V probably benign Het
Dnah14 A G 1: 181,517,666 (GRCm39) E2000G possibly damaging Het
Dpp4 T C 2: 62,203,171 (GRCm39) N266S probably benign Het
Edrf1 T A 7: 133,249,088 (GRCm39) D304E probably benign Het
Fabp9 T G 3: 10,259,887 (GRCm39) K42T probably benign Het
Fhl4 T A 10: 84,934,101 (GRCm39) I227F probably damaging Het
Gm13941 T C 2: 110,926,921 (GRCm39) probably null Het
Gsdmd T C 15: 75,736,186 (GRCm39) I105T possibly damaging Het
Gys1 A G 7: 45,092,348 (GRCm39) D317G possibly damaging Het
Hrh4 A G 18: 13,154,986 (GRCm39) Y175C probably damaging Het
Igfals A G 17: 25,099,278 (GRCm39) N123S probably benign Het
Igkv5-37 A G 6: 69,940,841 (GRCm39) V2A possibly damaging Het
Iqsec3 A G 6: 121,389,971 (GRCm39) L500P unknown Het
Itgae G A 11: 73,011,210 (GRCm39) R660Q probably benign Het
Kcnip2 T C 19: 45,782,730 (GRCm39) I204V possibly damaging Het
Kndc1 A G 7: 139,493,447 (GRCm39) E471G probably damaging Het
Lrrtm3 T A 10: 63,924,295 (GRCm39) T291S possibly damaging Het
Mast1 T A 8: 85,639,450 (GRCm39) H1293L possibly damaging Het
Mrnip A G 11: 50,090,607 (GRCm39) E257G probably benign Het
Myo9b T C 8: 71,743,607 (GRCm39) Y223H probably damaging Het
Nab1 G A 1: 52,529,127 (GRCm39) R257* probably null Het
Ncapd3 C A 9: 26,997,329 (GRCm39) L1217I probably damaging Het
Or5h18 T A 16: 58,847,448 (GRCm39) D274V probably benign Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pde4d T A 13: 110,084,870 (GRCm39) I489N probably damaging Het
Pdyn C T 2: 129,530,277 (GRCm39) G131R probably benign Het
Qrich2 CACCTGCTTGCAACACACCAGGCTGAACTGGACCT CACCT 11: 116,347,861 (GRCm39) probably benign Het
Rps6ka1 T C 4: 133,592,673 (GRCm39) K276E possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Scube2 T A 7: 109,407,684 (GRCm39) N752I possibly damaging Het
Scyl2 T C 10: 89,498,228 (GRCm39) I194V probably benign Het
Sec31b T G 19: 44,512,955 (GRCm39) R511S probably benign Het
Serpinb6d T C 13: 33,851,588 (GRCm39) F115S probably damaging Het
Skint6 T G 4: 112,752,040 (GRCm39) probably null Het
Supt16 G A 14: 52,411,542 (GRCm39) P614S possibly damaging Het
Tmem114 T C 16: 8,227,516 (GRCm39) I182M probably damaging Het
Vmn1r125 G A 7: 21,006,851 (GRCm39) V250I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp1005 A T 2: 150,109,577 (GRCm39) H89L possibly damaging Het
Zfp959 A T 17: 56,204,677 (GRCm39) D238V probably damaging Het
Other mutations in Cdk5rap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Cdk5rap3 APN 11 96,804,225 (GRCm39) missense probably damaging 1.00
IGL00958:Cdk5rap3 APN 11 96,800,793 (GRCm39) missense probably benign 0.04
IGL00964:Cdk5rap3 APN 11 96,800,765 (GRCm39) critical splice donor site probably null
IGL01767:Cdk5rap3 APN 11 96,804,291 (GRCm39) missense probably damaging 1.00
IGL02321:Cdk5rap3 APN 11 96,804,291 (GRCm39) missense probably damaging 1.00
IGL02352:Cdk5rap3 APN 11 96,807,003 (GRCm39) missense probably damaging 1.00
R0032:Cdk5rap3 UTSW 11 96,799,579 (GRCm39) missense possibly damaging 0.61
R0894:Cdk5rap3 UTSW 11 96,799,654 (GRCm39) missense probably damaging 1.00
R1795:Cdk5rap3 UTSW 11 96,799,654 (GRCm39) missense probably damaging 1.00
R5035:Cdk5rap3 UTSW 11 96,806,911 (GRCm39) utr 5 prime probably benign
R5530:Cdk5rap3 UTSW 11 96,802,459 (GRCm39) nonsense probably null
R5782:Cdk5rap3 UTSW 11 96,802,412 (GRCm39) missense probably benign 0.01
R6278:Cdk5rap3 UTSW 11 96,802,729 (GRCm39) missense probably damaging 1.00
R6888:Cdk5rap3 UTSW 11 96,807,018 (GRCm39) missense probably benign 0.33
R7526:Cdk5rap3 UTSW 11 96,800,771 (GRCm39) missense probably benign 0.05
R8784:Cdk5rap3 UTSW 11 96,803,212 (GRCm39) missense probably benign 0.35
Z1177:Cdk5rap3 UTSW 11 96,803,042 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTCCTGTGTGCCTGAATACG -3'
(R):5'- AAACTGGGTCTTCTCTGGGATTC -3'

Sequencing Primer
(F):5'- GCCTGAATACGATTTGATACTACGTG -3'
(R):5'- TGGGATTCCTGTCCTGCC -3'
Posted On 2020-07-13