Incidental Mutation 'R7145:Cdk5rap2'
ID 553697
Institutional Source Beutler Lab
Gene Symbol Cdk5rap2
Ensembl Gene ENSMUSG00000039298
Gene Name CDK5 regulatory subunit associated protein 2
Synonyms an, 2900018K03Rik
MMRRC Submission 045223-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R7145 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 70135092-70328672 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70156468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1681 (D1681E)
Ref Sequence ENSEMBL: ENSMUSP00000119891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076541] [ENSMUST00000138561] [ENSMUST00000144099]
AlphaFold Q8K389
Predicted Effect probably benign
Transcript: ENSMUST00000076541
Predicted Effect probably benign
Transcript: ENSMUST00000138561
SMART Domains Protein: ENSMUSP00000116928
Gene: ENSMUSG00000039298

DomainStartEndE-ValueType
Blast:BRLZ 228 284 1e-13 BLAST
low complexity region 297 314 N/A INTRINSIC
low complexity region 368 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144099
AA Change: D1681E

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: D1681E

DomainStartEndE-ValueType
Pfam:Cnn_1N 58 130 3.6e-26 PFAM
coiled coil region 210 345 N/A INTRINSIC
low complexity region 368 381 N/A INTRINSIC
coiled coil region 388 462 N/A INTRINSIC
coiled coil region 569 616 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
low complexity region 791 800 N/A INTRINSIC
coiled coil region 960 1001 N/A INTRINSIC
coiled coil region 1112 1140 N/A INTRINSIC
coiled coil region 1200 1237 N/A INTRINSIC
Blast:BRLZ 1479 1535 6e-13 BLAST
low complexity region 1548 1565 N/A INTRINSIC
low complexity region 1619 1637 N/A INTRINSIC
low complexity region 1700 1711 N/A INTRINSIC
low complexity region 1811 1822 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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 CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity. [provided by MGI curators]
Allele List at MGI

All alleles(22) : Targeted, other(1) Gene trapped(20) Radiation induced(1)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,820 (GRCm39) Y1670H probably damaging Het
Abca12 T C 1: 71,346,212 (GRCm39) K886R possibly damaging Het
Adcy3 G A 12: 4,250,992 (GRCm39) E584K probably benign Het
Ano3 A T 2: 110,693,205 (GRCm39) V131D probably benign Het
Arhgdig C T 17: 26,418,337 (GRCm39) W215* probably null Het
Cad G T 5: 31,224,956 (GRCm39) W953L possibly damaging Het
Calhm2 T C 19: 47,124,080 (GRCm39) Y88C probably benign Het
Cenpl T A 1: 160,910,482 (GRCm39) L143H possibly damaging Het
Cherp T C 8: 73,222,230 (GRCm39) K270E Het
Cmss1 A G 16: 57,131,718 (GRCm39) I136T probably benign Het
Col23a1 T C 11: 51,456,050 (GRCm39) probably null Het
Crnn C A 3: 93,055,689 (GRCm39) D158E probably damaging Het
Dnmt3a A T 12: 3,922,844 (GRCm39) Q149L probably benign Het
Dst T A 1: 34,228,963 (GRCm39) N2185K probably benign Het
Eif1ad18 G T 12: 88,050,597 (GRCm39) C44F probably benign Het
Elp2 T A 18: 24,737,126 (GRCm39) N25K probably benign Het
Ephb4 A T 5: 137,370,308 (GRCm39) D845V probably damaging Het
Esyt3 T C 9: 99,201,627 (GRCm39) T561A probably damaging Het
F3 G T 3: 121,525,235 (GRCm39) V159L probably damaging Het
Fam81a A T 9: 70,017,560 (GRCm39) D128E probably damaging Het
Flot1 T G 17: 36,135,835 (GRCm39) H155Q probably benign Het
Fut9 T A 4: 25,620,507 (GRCm39) K102N probably damaging Het
Gm6309 T C 5: 146,107,100 (GRCm39) Q82R possibly damaging Het
H13 A G 2: 152,522,992 (GRCm39) N102D probably damaging Het
Lamc2 C G 1: 153,006,518 (GRCm39) A878P possibly damaging Het
Lepr C T 4: 101,609,394 (GRCm39) T327I probably benign Het
Lrp2 A G 2: 69,285,152 (GRCm39) probably null Het
Ly86 A G 13: 37,560,986 (GRCm39) K116E probably damaging Het
Mapk8ip2 T A 15: 89,343,201 (GRCm39) F648I possibly damaging Het
Muc16 G A 9: 18,566,876 (GRCm39) T1881I unknown Het
Myh13 T G 11: 67,245,566 (GRCm39) S1069A probably benign Het
Myh4 T A 11: 67,151,054 (GRCm39) I1903N possibly damaging Het
Myo18b A T 5: 112,965,545 (GRCm39) L1341* probably null Het
Naa25 G T 5: 121,555,552 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ncapg C T 5: 45,827,372 (GRCm39) A3V possibly damaging Het
Ncln T C 10: 81,324,086 (GRCm39) H481R probably benign Het
Nek4 C A 14: 30,704,305 (GRCm39) Q607K probably damaging Het
Neo1 T C 9: 58,796,462 (GRCm39) Y1182C probably damaging Het
Npnt T C 3: 132,615,692 (GRCm39) N165S probably benign Het
Or2l5 C G 16: 19,333,649 (GRCm39) V246L probably damaging Het
Or4p22 C T 2: 88,317,721 (GRCm39) S215L probably damaging Het
Or8b8 A G 9: 37,808,859 (GRCm39) H53R probably benign Het
Or8k30 T C 2: 86,338,872 (GRCm39) L23P probably damaging Het
Otulin T C 15: 27,608,856 (GRCm39) Y229C probably damaging Het
Palld A T 8: 61,985,051 (GRCm39) D1071E unknown Het
Pcdhb20 T C 18: 37,638,142 (GRCm39) S223P probably damaging Het
Pcdhga6 T A 18: 37,840,781 (GRCm39) I167N probably damaging Het
Pcdhgb4 A G 18: 37,854,843 (GRCm39) N413D probably benign Het
Pcdhgb8 T A 18: 37,896,050 (GRCm39) Y373* probably null Het
Plxna2 G T 1: 194,331,830 (GRCm39) V419L probably benign Het
Rpgrip1l A T 8: 91,959,434 (GRCm39) probably null Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Scaper C T 9: 55,819,395 (GRCm39) D107N unknown Het
Scgb2b3 T A 7: 31,059,573 (GRCm39) Y67F probably benign Het
Scn5a G A 9: 119,315,437 (GRCm39) T1757I probably damaging Het
Sgo2b G A 8: 64,381,218 (GRCm39) P538L probably damaging Het
Slc9a3 A G 13: 74,298,797 (GRCm39) K72R probably damaging Het
Smchd1 T A 17: 71,685,202 (GRCm39) T1409S probably benign Het
Stab1 A T 14: 30,867,030 (GRCm39) probably null Het
Sult2b1 T C 7: 45,383,056 (GRCm39) E242G probably damaging Het
Tcaf1 A T 6: 42,663,687 (GRCm39) H64Q probably damaging Het
Tle6 T C 10: 81,435,910 (GRCm39) T2A possibly damaging Het
Tmem115 T C 9: 107,412,285 (GRCm39) V203A probably benign Het
Tmem45b G A 9: 31,340,337 (GRCm39) T108I probably damaging Het
Tmf1 A T 6: 97,153,079 (GRCm39) D331E probably damaging Het
Txndc9 T C 1: 38,029,377 (GRCm39) Y157C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r27 C A 6: 124,168,711 (GRCm39) R806S probably benign Het
Vmn2r59 G A 7: 41,695,188 (GRCm39) A408V probably damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A probably benign Het
Other mutations in Cdk5rap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Cdk5rap2 APN 4 70,321,709 (GRCm39) critical splice donor site probably null
IGL01305:Cdk5rap2 APN 4 70,298,472 (GRCm39) missense possibly damaging 0.52
IGL01987:Cdk5rap2 APN 4 70,220,319 (GRCm39) critical splice donor site probably null
IGL02213:Cdk5rap2 APN 4 70,235,839 (GRCm39) splice site probably benign
IGL02732:Cdk5rap2 APN 4 70,184,902 (GRCm39) nonsense probably null
IGL03063:Cdk5rap2 APN 4 70,273,114 (GRCm39) critical splice acceptor site probably null
IGL03244:Cdk5rap2 APN 4 70,199,672 (GRCm39) missense probably benign 0.19
ANU22:Cdk5rap2 UTSW 4 70,298,472 (GRCm39) missense possibly damaging 0.52
F5426:Cdk5rap2 UTSW 4 70,173,040 (GRCm39) missense probably benign
R0010:Cdk5rap2 UTSW 4 70,161,696 (GRCm39) missense probably benign 0.01
R0010:Cdk5rap2 UTSW 4 70,161,696 (GRCm39) missense probably benign 0.01
R0044:Cdk5rap2 UTSW 4 70,279,138 (GRCm39) missense probably damaging 1.00
R0044:Cdk5rap2 UTSW 4 70,279,138 (GRCm39) missense probably damaging 1.00
R0482:Cdk5rap2 UTSW 4 70,328,506 (GRCm39) start gained probably benign
R0548:Cdk5rap2 UTSW 4 70,267,379 (GRCm39) critical splice donor site probably null
R0594:Cdk5rap2 UTSW 4 70,273,050 (GRCm39) missense probably damaging 0.98
R0737:Cdk5rap2 UTSW 4 70,255,612 (GRCm39) missense probably benign 0.01
R0788:Cdk5rap2 UTSW 4 70,225,468 (GRCm39) missense possibly damaging 0.90
R0960:Cdk5rap2 UTSW 4 70,161,745 (GRCm39) missense probably benign 0.03
R1682:Cdk5rap2 UTSW 4 70,220,387 (GRCm39) missense possibly damaging 0.92
R1727:Cdk5rap2 UTSW 4 70,208,209 (GRCm39) missense possibly damaging 0.70
R1727:Cdk5rap2 UTSW 4 70,190,916 (GRCm39) missense probably benign
R1768:Cdk5rap2 UTSW 4 70,225,470 (GRCm39) missense probably benign 0.09
R1903:Cdk5rap2 UTSW 4 70,321,791 (GRCm39) splice site probably null
R2270:Cdk5rap2 UTSW 4 70,184,915 (GRCm39) missense probably benign 0.01
R2271:Cdk5rap2 UTSW 4 70,184,915 (GRCm39) missense probably benign 0.01
R2272:Cdk5rap2 UTSW 4 70,184,915 (GRCm39) missense probably benign 0.01
R2364:Cdk5rap2 UTSW 4 70,279,046 (GRCm39) critical splice donor site probably null
R2763:Cdk5rap2 UTSW 4 70,199,508 (GRCm39) missense probably benign
R2893:Cdk5rap2 UTSW 4 70,208,110 (GRCm39) missense probably benign
R2894:Cdk5rap2 UTSW 4 70,208,110 (GRCm39) missense probably benign
R2958:Cdk5rap2 UTSW 4 70,208,214 (GRCm39) frame shift probably null
R2959:Cdk5rap2 UTSW 4 70,208,214 (GRCm39) frame shift probably null
R2961:Cdk5rap2 UTSW 4 70,208,214 (GRCm39) frame shift probably null
R2962:Cdk5rap2 UTSW 4 70,208,214 (GRCm39) frame shift probably null
R2963:Cdk5rap2 UTSW 4 70,208,214 (GRCm39) frame shift probably null
R3522:Cdk5rap2 UTSW 4 70,168,647 (GRCm39) missense probably damaging 1.00
R3725:Cdk5rap2 UTSW 4 70,153,674 (GRCm39) missense possibly damaging 0.89
R3726:Cdk5rap2 UTSW 4 70,153,674 (GRCm39) missense possibly damaging 0.89
R3876:Cdk5rap2 UTSW 4 70,208,214 (GRCm39) frame shift probably null
R3919:Cdk5rap2 UTSW 4 70,298,460 (GRCm39) missense possibly damaging 0.50
R4025:Cdk5rap2 UTSW 4 70,168,624 (GRCm39) missense probably damaging 0.98
R4324:Cdk5rap2 UTSW 4 70,271,851 (GRCm39) missense probably damaging 1.00
R4485:Cdk5rap2 UTSW 4 70,157,520 (GRCm39) critical splice donor site probably null
R4516:Cdk5rap2 UTSW 4 70,194,952 (GRCm39) splice site probably null
R4556:Cdk5rap2 UTSW 4 70,157,549 (GRCm39) missense probably damaging 0.97
R4560:Cdk5rap2 UTSW 4 70,233,568 (GRCm39) missense probably benign 0.03
R4584:Cdk5rap2 UTSW 4 70,184,997 (GRCm39) missense probably damaging 1.00
R4620:Cdk5rap2 UTSW 4 70,184,943 (GRCm39) missense probably benign 0.00
R4639:Cdk5rap2 UTSW 4 70,220,413 (GRCm39) missense probably damaging 0.97
R4755:Cdk5rap2 UTSW 4 70,156,662 (GRCm39) missense probably damaging 1.00
R4947:Cdk5rap2 UTSW 4 70,146,829 (GRCm39) splice site probably null
R5116:Cdk5rap2 UTSW 4 70,225,475 (GRCm39) missense possibly damaging 0.67
R5449:Cdk5rap2 UTSW 4 70,194,888 (GRCm39) missense probably benign 0.00
R5643:Cdk5rap2 UTSW 4 70,184,970 (GRCm39) missense probably damaging 0.99
R5899:Cdk5rap2 UTSW 4 70,161,830 (GRCm39) splice site probably benign
R6177:Cdk5rap2 UTSW 4 70,199,719 (GRCm39) missense probably damaging 0.99
R6254:Cdk5rap2 UTSW 4 70,282,269 (GRCm39) missense probably damaging 1.00
R6326:Cdk5rap2 UTSW 4 70,153,691 (GRCm39) missense probably damaging 1.00
R6335:Cdk5rap2 UTSW 4 70,184,849 (GRCm39) missense possibly damaging 0.79
R6534:Cdk5rap2 UTSW 4 70,273,050 (GRCm39) missense probably damaging 0.98
R6857:Cdk5rap2 UTSW 4 70,163,633 (GRCm39) nonsense probably null
R6959:Cdk5rap2 UTSW 4 70,278,906 (GRCm39) splice site probably null
R7104:Cdk5rap2 UTSW 4 70,267,393 (GRCm39) missense probably benign 0.00
R7223:Cdk5rap2 UTSW 4 70,153,684 (GRCm39) missense probably benign 0.02
R7234:Cdk5rap2 UTSW 4 70,295,024 (GRCm39) splice site probably null
R7240:Cdk5rap2 UTSW 4 70,210,145 (GRCm39) missense probably damaging 1.00
R7247:Cdk5rap2 UTSW 4 70,255,666 (GRCm39) missense probably damaging 1.00
R7382:Cdk5rap2 UTSW 4 70,208,262 (GRCm39) missense probably benign 0.19
R7413:Cdk5rap2 UTSW 4 70,172,972 (GRCm39) missense probably damaging 1.00
R7576:Cdk5rap2 UTSW 4 70,185,109 (GRCm39) missense probably benign 0.01
R8236:Cdk5rap2 UTSW 4 70,160,722 (GRCm39) missense probably benign
R8434:Cdk5rap2 UTSW 4 70,282,257 (GRCm39) missense probably benign 0.00
R8688:Cdk5rap2 UTSW 4 70,298,510 (GRCm39) missense probably damaging 1.00
R8706:Cdk5rap2 UTSW 4 70,157,562 (GRCm39) missense probably benign 0.08
R8731:Cdk5rap2 UTSW 4 70,163,747 (GRCm39) splice site probably benign
R8782:Cdk5rap2 UTSW 4 70,161,712 (GRCm39) missense possibly damaging 0.57
R8855:Cdk5rap2 UTSW 4 70,218,887 (GRCm39) missense probably damaging 1.00
R8965:Cdk5rap2 UTSW 4 70,185,042 (GRCm39) missense probably benign 0.30
R9242:Cdk5rap2 UTSW 4 70,255,583 (GRCm39) missense possibly damaging 0.46
R9308:Cdk5rap2 UTSW 4 70,328,504 (GRCm39) start codon destroyed probably null 0.99
R9396:Cdk5rap2 UTSW 4 70,182,895 (GRCm39) missense probably damaging 0.97
R9396:Cdk5rap2 UTSW 4 70,172,903 (GRCm39) missense possibly damaging 0.75
R9507:Cdk5rap2 UTSW 4 70,210,110 (GRCm39) missense probably benign
Z1176:Cdk5rap2 UTSW 4 70,184,980 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCACCTTCAGGCTTTCCTATG -3'
(R):5'- AGGAACTGATGTTGACTCGC -3'

Sequencing Primer
(F):5'- CAGGCTTTCCTATGCAACAC -3'
(R):5'- GCTCTCCTGTGACAGTACCAG -3'
Posted On 2019-05-15