Incidental Mutation 'R6888:Cdk5rap3'
ID 537066
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 044982-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6888 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 96798252-96807322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96807018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 4 (H4R)
Ref Sequence ENSEMBL: ENSMUSP00000116405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103152] [ENSMUST00000127048] [ENSMUST00000130774] [ENSMUST00000134732] [ENSMUST00000144731] [ENSMUST00000147573] [ENSMUST00000153305] [ENSMUST00000156315]
AlphaFold Q99LM2
Predicted Effect probably benign
Transcript: ENSMUST00000103152
AA Change: H4R

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099441
Gene: ENSMUSG00000018669
AA Change: H4R

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 probably benign
Transcript: ENSMUST00000130774
SMART Domains Protein: ENSMUSP00000114661
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 80 1.6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134732
AA Change: H4R

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120258
Gene: ENSMUSG00000018669
AA Change: H4R

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 unknown
Transcript: ENSMUST00000147573
AA Change: H4R
Predicted Effect probably benign
Transcript: ENSMUST00000153305
AA Change: H4R

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116405
Gene: ENSMUSG00000018669
AA Change: H4R

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: 99.4%
  • 20x: 98.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg1 T C 11: 120,238,141 (GRCm39) Y190C probably damaging Het
Adgrv1 A G 13: 81,656,788 (GRCm39) I2902T probably damaging Het
AI429214 G A 8: 37,460,987 (GRCm39) G45D possibly damaging Het
Ambra1 A G 2: 91,599,372 (GRCm39) D164G probably damaging Het
Ap3b1 A T 13: 94,545,299 (GRCm39) Q184L probably benign Het
Arhgef17 T C 7: 100,580,027 (GRCm39) D307G possibly damaging Het
AY761185 A T 8: 21,434,571 (GRCm39) Y52* probably null Het
Bfsp1 A G 2: 143,668,639 (GRCm39) S647P probably benign Het
C130073F10Rik A G 4: 101,747,453 (GRCm39) V192A probably benign Het
Cacna1g T A 11: 94,350,033 (GRCm39) D604V probably benign Het
Ccdc170 T C 10: 4,496,854 (GRCm39) V458A possibly damaging Het
Ccdc187 G A 2: 26,179,746 (GRCm39) R238W probably damaging Het
Cdh1 A G 8: 107,384,946 (GRCm39) S380G probably benign Het
Cftr G A 6: 18,313,729 (GRCm39) probably null Het
Cstpp1 A G 2: 91,252,239 (GRCm39) Y41H probably damaging Het
Dnajc16 A G 4: 141,504,303 (GRCm39) V219A probably benign Het
Drd3 A T 16: 43,637,502 (GRCm39) I266F probably benign Het
Dut A G 2: 125,099,044 (GRCm39) D177G probably benign Het
Esr1 A G 10: 4,807,076 (GRCm39) I331V probably benign Het
Gm11110 A G 17: 57,409,143 (GRCm39) probably benign Het
Grm7 G T 6: 111,335,314 (GRCm39) G575V possibly damaging Het
Heatr3 A G 8: 88,897,512 (GRCm39) Y531C probably damaging Het
Igfn1 A G 1: 135,910,218 (GRCm39) V122A probably benign Het
Igsf21 T C 4: 139,762,054 (GRCm39) D208G probably benign Het
Kntc1 T C 5: 123,949,373 (GRCm39) Y1915H probably damaging Het
Lamc1 A T 1: 153,138,238 (GRCm39) D205E probably damaging Het
Limch1 C T 5: 67,179,269 (GRCm39) T713I probably benign Het
Lrp1b A G 2: 41,361,138 (GRCm39) I555T probably benign Het
Lrp2 A T 2: 69,354,485 (GRCm39) F448I probably damaging Het
Marchf6 T C 15: 31,459,379 (GRCm39) K896E probably benign Het
Mroh4 T C 15: 74,485,098 (GRCm39) Y469C possibly damaging Het
Niban3 G T 8: 72,056,383 (GRCm39) R361L probably benign Het
Nos3 T C 5: 24,588,333 (GRCm39) V1060A possibly damaging Het
Nr1h4 A G 10: 89,292,404 (GRCm39) I406T probably damaging Het
Odf2l T C 3: 144,854,379 (GRCm39) probably null Het
Or2y15 A T 11: 49,351,087 (GRCm39) T194S probably damaging Het
Or5d14 A G 2: 87,880,608 (GRCm39) M120T probably damaging Het
Pals2 T G 6: 50,157,257 (GRCm39) probably null Het
Pbx2 A G 17: 34,813,081 (GRCm39) Y119C possibly damaging Het
Pdcd6ip C A 9: 113,500,905 (GRCm39) A526S probably benign Het
Prx G A 7: 27,219,059 (GRCm39) D1187N possibly damaging Het
Ptpro G A 6: 137,357,198 (GRCm39) V230I probably benign Het
Rtn3 C T 19: 7,434,614 (GRCm39) M440I probably benign Het
Sar1b T C 11: 51,679,019 (GRCm39) I96T probably damaging Het
Sds T C 5: 120,618,965 (GRCm39) probably null Het
Secisbp2 A G 13: 51,833,977 (GRCm39) T706A probably benign Het
Sorcs3 A T 19: 48,682,263 (GRCm39) M433L possibly damaging Het
Sppl2a A G 2: 126,746,912 (GRCm39) V472A probably damaging Het
Tbc1d9 A G 8: 83,998,217 (GRCm39) E1258G possibly damaging Het
Tbxas1 C A 6: 38,929,008 (GRCm39) probably benign Het
Tg T C 15: 66,568,095 (GRCm39) I1333T probably damaging Het
Tmem108 C T 9: 103,376,915 (GRCm39) G178D probably damaging Het
Tmem174 A G 13: 98,773,569 (GRCm39) L87P probably damaging Het
Tmppe T A 9: 114,233,769 (GRCm39) S23T probably damaging Het
Ttn G A 2: 76,591,447 (GRCm39) T21074I probably benign Het
Tub A G 7: 108,628,505 (GRCm39) M338V probably null Het
Vmn1r160 A T 7: 22,571,531 (GRCm39) R295* probably null Het
Vps52 T C 17: 34,182,180 (GRCm39) V518A probably benign Het
Wdr59 A G 8: 112,177,675 (GRCm39) V909A probably benign Het
Wnk1 T C 6: 119,925,742 (GRCm39) T1241A probably benign Het
Zfp882 G A 8: 72,668,130 (GRCm39) C319Y probably benign Het
Znfx1 A T 2: 166,880,860 (GRCm39) I308N possibly 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
R7526:Cdk5rap3 UTSW 11 96,800,771 (GRCm39) missense probably benign 0.05
R8197:Cdk5rap3 UTSW 11 96,806,975 (GRCm39) critical splice donor site probably null
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'- GAGAAACTGGGTCTTCTCTGGG -3'

Sequencing Primer
(F):5'- GGAGCCAGTACAGACTTTCCATG -3'
(R):5'- AAACTGGGTCTTCTCTGGGATTCC -3'
Posted On 2018-10-18