Incidental Mutation 'R7382:Cdk5rap2'
ID 572784
Institutional Source Beutler Lab
Gene Symbol Cdk5rap2
Ensembl Gene ENSMUSG00000039298
Gene Name CDK5 regulatory subunit associated protein 2
Synonyms an, 2900018K03Rik
MMRRC Submission 045464-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R7382 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 70135092-70328672 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70208262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 728 (M728K)
Ref Sequence ENSEMBL: ENSMUSP00000119891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076541] [ENSMUST00000144099]
AlphaFold Q8K389
Predicted Effect probably benign
Transcript: ENSMUST00000076541
Predicted Effect probably benign
Transcript: ENSMUST00000144099
AA Change: M728K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: M728K

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 0.1224 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A T 10: 78,903,103 (GRCm39) H404Q probably damaging Het
Aadacl2fm2 T A 3: 59,651,037 (GRCm39) M53K probably benign Het
Adam8 T A 7: 139,570,020 (GRCm39) T82S possibly damaging Het
Adgrl2 T G 3: 148,522,919 (GRCm39) Q435P Het
Ahr A T 12: 35,554,514 (GRCm39) M535K probably damaging Het
Akap6 A G 12: 53,188,954 (GRCm39) I2123V probably benign Het
Ankrd2 G T 19: 42,033,411 (GRCm39) G318C Het
Ap4e1 T A 2: 126,850,822 (GRCm39) probably null Het
Atp8a2 G A 14: 59,892,043 (GRCm39) P1102S probably benign Het
Cacna2d4 C T 6: 119,216,048 (GRCm39) S105F probably damaging Het
Cad C A 5: 31,233,173 (GRCm39) P1872T probably benign Het
Catsperg1 A G 7: 28,904,269 (GRCm39) F251L probably benign Het
Ccdc18 C A 5: 108,286,873 (GRCm39) Q136K probably damaging Het
Cd163 A G 6: 124,288,271 (GRCm39) probably null Het
Cd209d A T 8: 3,927,965 (GRCm39) Y46* probably null Het
Cdon A G 9: 35,389,944 (GRCm39) D866G probably damaging Het
Cenpl A G 1: 160,906,031 (GRCm39) H135R probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Clstn2 A T 9: 97,681,451 (GRCm39) L63* probably null Het
Cpeb4 A G 11: 31,822,828 (GRCm39) T181A probably damaging Het
Dlgap1 A G 17: 71,094,169 (GRCm39) E830G probably damaging Het
Endou T A 15: 97,616,807 (GRCm39) K239* probably null Het
Ezh2 T C 6: 47,528,770 (GRCm39) N263S possibly damaging Het
Fbxw2 T C 2: 34,697,314 (GRCm39) D351G probably benign Het
Fer1l4 A T 2: 155,862,669 (GRCm39) Y1720* probably null Het
Fmo9 A T 1: 166,491,229 (GRCm39) probably null Het
Frmpd1 T A 4: 45,278,880 (GRCm39) V535E probably benign Het
Fxr2 T C 11: 69,532,382 (GRCm39) V139A probably benign Het
Gpr180 T G 14: 118,400,035 (GRCm39) V401G possibly damaging Het
Heatr5b G T 17: 79,110,936 (GRCm39) R971S possibly damaging Het
Igkv8-34 C A 6: 70,021,103 (GRCm39) A120S probably benign Het
Inpp5b T A 4: 124,645,370 (GRCm39) H219Q probably benign Het
Itprid1 G T 6: 55,955,404 (GRCm39) G1004V probably benign Het
Kremen2 T C 17: 23,962,526 (GRCm39) probably null Het
Mael G A 1: 166,029,167 (GRCm39) P419S probably benign Het
Map1a A G 2: 121,121,266 (GRCm39) T102A probably damaging Het
Mfsd2a A T 4: 122,845,916 (GRCm39) I119N possibly damaging Het
Muc5b T C 7: 141,412,685 (GRCm39) V1877A unknown Het
Myo5c A C 9: 75,211,332 (GRCm39) S1733R probably damaging Het
Nelfcd T C 2: 174,265,176 (GRCm39) V248A probably benign Het
Npc1 A T 18: 12,334,763 (GRCm39) I663N probably damaging Het
Olig3 T A 10: 19,232,413 (GRCm39) S13T unknown Het
Or1j17 G T 2: 36,578,046 (GRCm39) E11* probably null Het
Or8k39 T C 2: 86,563,129 (GRCm39) I276V probably benign Het
Piezo2 A C 18: 63,150,590 (GRCm39) probably null Het
Pkd1l2 G T 8: 117,781,610 (GRCm39) L812M possibly damaging Het
Plcd1 G A 9: 118,903,759 (GRCm39) T387I probably damaging Het
Ppara C T 15: 85,671,429 (GRCm39) S110L probably damaging Het
Ranbp9 C T 13: 43,578,590 (GRCm39) R161Q probably damaging Het
Rufy2 G T 10: 62,833,748 (GRCm39) R270L probably benign Het
Septin12 C T 16: 4,806,346 (GRCm39) E272K probably damaging Het
Sgms1 T C 19: 32,137,182 (GRCm39) E128G possibly damaging Het
Sh3bgr G A 16: 96,007,093 (GRCm39) S21N probably benign Het
Sil1 A T 18: 35,458,466 (GRCm39) D176E probably benign Het
Slc13a2 A T 11: 78,295,621 (GRCm39) Y82N probably damaging Het
Slc41a1 C T 1: 131,774,370 (GRCm39) P479L probably damaging Het
Smarca4 A G 9: 21,570,229 (GRCm39) K744R probably damaging Het
Stxbp1 T C 2: 32,688,180 (GRCm39) D495G probably damaging Het
Sugp2 T C 8: 70,695,494 (GRCm39) S156P probably benign Het
Syt3 A T 7: 44,042,170 (GRCm39) D343V probably damaging Het
Tbl3 G T 17: 24,924,265 (GRCm39) T164N probably benign Het
Tbpl2 A T 2: 23,977,326 (GRCm39) probably null Het
Tcf7l2 T A 19: 55,915,172 (GRCm39) W461R unknown Het
Tmprss11c A T 5: 86,379,723 (GRCm39) F395Y probably benign Het
Tnc A T 4: 63,932,280 (GRCm39) Y711* probably null Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Ttc41 A G 10: 86,612,374 (GRCm39) K1216E probably damaging Het
Ube2q2 A C 9: 55,070,298 (GRCm39) D80A probably damaging Het
Ube2u A T 4: 100,389,379 (GRCm39) K227* probably null Het
Uhrf2 T C 19: 30,048,788 (GRCm39) Y265H possibly damaging Het
Vmn1r208 T G 13: 22,956,756 (GRCm39) Y247S probably damaging Het
Vmn2r27 A G 6: 124,174,276 (GRCm39) C525R probably damaging Het
Vps13a T C 19: 16,596,849 (GRCm39) T3090A probably damaging Het
Whrn T C 4: 63,336,573 (GRCm39) K674R probably benign Het
Zfp202 G T 9: 40,122,801 (GRCm39) R521I probably damaging Het
Zfp433 T C 10: 81,556,659 (GRCm39) V387A probably benign Het
Zpld1 T C 16: 55,067,046 (GRCm39) 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
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
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
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'- AGTATGTTCGCTCCTCAAACGAG -3'
(R):5'- GCATCCTGCCTTACCATCAG -3'

Sequencing Primer
(F):5'- TAAAGAGGTGTCTGGGCCC -3'
(R):5'- CATCAGTGGACTTGCTGGC -3'
Posted On 2019-09-13