Incidental Mutation 'R4620:Cdk5rap2'
ID 345224
Institutional Source Beutler Lab
Gene Symbol Cdk5rap2
Ensembl Gene ENSMUSG00000039298
Gene Name CDK5 regulatory subunit associated protein 2
Synonyms an, 2900018K03Rik
MMRRC Submission 042008-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R4620 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 70135092-70328672 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70184943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1169 (I1169T)
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: I1169T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: I1169T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 99% (80/81)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,945,335 (GRCm39) Y433* probably null Het
Apba2 C T 7: 64,364,215 (GRCm39) R331C probably damaging Het
Apod T C 16: 31,116,211 (GRCm39) D173G probably benign Het
B3gnt5 A T 16: 19,588,632 (GRCm39) M284L probably benign Het
Birc6 A C 17: 74,947,145 (GRCm39) T2955P probably benign Het
Blvra T C 2: 126,938,885 (GRCm39) I287T probably damaging Het
Capn5 T C 7: 97,778,578 (GRCm39) Y347C probably damaging Het
Cdcp2 A G 4: 106,963,927 (GRCm39) E259G probably damaging Het
Cdh2 A G 18: 16,781,665 (GRCm39) V85A probably benign Het
Cenpj A G 14: 56,772,911 (GRCm39) V1043A probably damaging Het
Cfap54 T A 10: 92,805,619 (GRCm39) H1497L probably benign Het
Chat A G 14: 32,175,775 (GRCm39) M95T probably damaging Het
Csmd1 T C 8: 16,052,694 (GRCm39) probably null Het
Csmd3 T C 15: 47,449,149 (GRCm39) E3615G probably benign Het
Cyp2c68 A T 19: 39,701,006 (GRCm39) probably null Het
Dll1 C T 17: 15,590,828 (GRCm39) A332T probably benign Het
Dmrta1 A T 4: 89,577,021 (GRCm39) Q159L probably benign Het
Dnai3 A T 3: 145,748,564 (GRCm39) L850Q probably damaging Het
Eci3 A T 13: 35,132,741 (GRCm39) M212K probably damaging Het
Eml4 T C 17: 83,768,962 (GRCm39) F557L probably benign Het
Fat3 A T 9: 15,908,190 (GRCm39) V2604D probably damaging Het
Frem3 T C 8: 81,395,586 (GRCm39) V1871A possibly damaging Het
Gart T C 16: 91,422,321 (GRCm39) N732S probably damaging Het
Gas2l2 T C 11: 83,313,924 (GRCm39) I463V probably benign Het
H2-M3 C A 17: 37,583,310 (GRCm39) T257K probably damaging Het
Hdgf A G 3: 87,821,883 (GRCm39) N166S possibly damaging Het
Hoxb3 A T 11: 96,236,599 (GRCm39) N226Y probably damaging Het
Itgav T C 2: 83,586,246 (GRCm39) Y169H probably benign Het
Kalrn T G 16: 33,849,075 (GRCm39) I426L probably damaging Het
Kcnh3 G A 15: 99,131,982 (GRCm39) V646M probably damaging Het
Kif6 T C 17: 50,208,324 (GRCm39) V735A probably benign Het
Krt1c T A 15: 101,726,026 (GRCm39) I171F probably damaging Het
Megf8 G A 7: 25,054,523 (GRCm39) A1880T possibly damaging Het
Miox A T 15: 89,220,324 (GRCm39) Y172F probably benign Het
Myo18a G A 11: 77,708,773 (GRCm39) R48H possibly damaging Het
Ndufb7 T C 8: 84,293,487 (GRCm39) S14P probably damaging Het
Npepps A T 11: 97,129,070 (GRCm39) H371Q probably damaging Het
Or10d5j C T 9: 39,868,205 (GRCm39) V9M probably damaging Het
Or52e15 T A 7: 104,645,830 (GRCm39) I94F probably damaging Het
Or52e19 C T 7: 102,959,165 (GRCm39) T79I probably benign Het
Or8b12c A G 9: 37,716,115 (GRCm39) T303A probably benign Het
Orc5 A T 5: 22,734,174 (GRCm39) D203E probably damaging Het
Pappa A G 4: 65,245,265 (GRCm39) T1518A probably benign Het
Pde6a A G 18: 61,395,563 (GRCm39) D602G probably damaging Het
Pnliprp2 G A 19: 58,750,718 (GRCm39) V136I possibly damaging Het
Postn A C 3: 54,284,414 (GRCm39) D627A probably damaging Het
Prpf39 T C 12: 65,089,337 (GRCm39) V25A probably benign Het
Pxdc1 A G 13: 34,836,297 (GRCm39) I41T probably damaging Het
Rab11fip1 T A 8: 27,644,243 (GRCm39) E514V probably damaging Het
Rag1 A T 2: 101,474,025 (GRCm39) H372Q probably damaging Het
Ranbp1 A G 16: 18,057,968 (GRCm39) probably benign Het
Rexo5 A G 7: 119,426,526 (GRCm39) I317V probably benign Het
Rragc A G 4: 123,818,622 (GRCm39) Q279R probably damaging Het
Sbf1 A G 15: 89,191,129 (GRCm39) S187P probably damaging Het
Senp3 T A 11: 69,567,944 (GRCm39) Y432F probably benign Het
Slfn5 G A 11: 82,852,478 (GRCm39) C868Y probably damaging Het
Sorcs2 C T 5: 36,194,838 (GRCm39) A722T probably benign Het
Sptb A T 12: 76,630,581 (GRCm39) C2244* probably null Het
Srbd1 A T 17: 86,416,693 (GRCm39) F488L probably benign Het
Sucnr1 A G 3: 59,994,190 (GRCm39) I239M possibly damaging Het
Themis2 A G 4: 132,513,333 (GRCm39) W298R probably damaging Het
Tmem168 T G 6: 13,594,952 (GRCm39) N37T probably benign Het
Tmem62 A G 2: 120,826,845 (GRCm39) probably benign Het
Tmprss15 T C 16: 78,818,358 (GRCm39) D524G probably damaging Het
Trav5-4 G T 14: 53,941,853 (GRCm39) M75I probably benign Het
Trio T A 15: 27,871,257 (GRCm39) H620L probably damaging Het
Ubap2 C T 4: 41,233,698 (GRCm39) G64E probably damaging Het
Usp32 C A 11: 84,949,953 (GRCm39) probably null Het
Wdfy3 A T 5: 102,054,011 (GRCm39) F1603Y probably damaging Het
Xpo4 A T 14: 57,867,782 (GRCm39) L155Q probably damaging Het
Zbtb21 T C 16: 97,751,092 (GRCm39) T1092A possibly damaging Het
Zfp780b A T 7: 27,662,178 (GRCm39) Y792* probably null 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
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
R7145:Cdk5rap2 UTSW 4 70,156,468 (GRCm39) missense probably benign 0.13
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'- ACCGAAAAGTTCCAAGTTCAAG -3'
(R):5'- CAGCGTGAATGGAACTGACC -3'

Sequencing Primer
(F):5'- AAGTTCCAAGTTCAAGTCCTGC -3'
(R):5'- TGGAACTGACCAGTCTGAGAATATC -3'
Posted On 2015-09-25