Incidental Mutation 'R6959:Cdk5rap2'
ID 568357
Institutional Source Beutler Lab
Gene Symbol Cdk5rap2
Ensembl Gene ENSMUSG00000039298
Gene Name CDK5 regulatory subunit associated protein 2
Synonyms an, 2900018K03Rik
MMRRC Submission 045069-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R6959 (G1)
Quality Score 112.008
Status Validated
Chromosome 4
Chromosomal Location 70135092-70328672 bp(-) (GRCm39)
Type of Mutation splice site (142 bp from exon)
DNA Base Change (assembly) G to A at 70278906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000144099
SMART Domains Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298

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: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik G A 11: 70,507,485 (GRCm39) G177R probably damaging Het
Arhgef12 T C 9: 42,927,249 (GRCm39) T292A probably benign Het
Atp11a T A 8: 12,870,467 (GRCm39) D173E probably damaging Het
Bltp1 T G 3: 37,021,338 (GRCm39) V2154G probably damaging Het
Btnl2 G A 17: 34,582,333 (GRCm39) V300M possibly damaging Het
Calcrl A T 2: 84,200,428 (GRCm39) N117K possibly damaging Het
Castor2 T C 5: 134,164,052 (GRCm39) S83P probably damaging Het
Ccdc196 A G 12: 78,249,070 (GRCm39) K139E probably damaging Het
Ccl22 A T 8: 95,473,528 (GRCm39) probably null Het
Cd200r1 T A 16: 44,610,539 (GRCm39) S216T probably damaging Het
Cfap157 A G 2: 32,674,260 (GRCm39) I47T probably damaging Het
Chodl G A 16: 78,743,572 (GRCm39) V220I probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Cstf3 A G 2: 104,479,807 (GRCm39) T225A probably benign Het
Duoxa1 T C 2: 122,134,318 (GRCm39) S267G probably damaging Het
Epb41l1 G A 2: 156,341,507 (GRCm39) S164N probably benign Het
Fat3 T C 9: 15,908,181 (GRCm39) D2607G possibly damaging Het
Galnt5 A G 2: 57,889,231 (GRCm39) D277G probably benign Het
Galnt6 A G 15: 100,612,006 (GRCm39) I212T probably damaging Het
Gm45861 T C 8: 28,038,213 (GRCm39) probably null Het
Gm5478 T C 15: 101,553,883 (GRCm39) D243G probably damaging Het
Gse1 A G 8: 121,297,710 (GRCm39) probably benign Het
Hspg2 A T 4: 137,246,600 (GRCm39) Q1096L probably benign Het
Hycc1 T C 5: 24,196,754 (GRCm39) I45V possibly damaging Het
Idh3b A G 2: 130,123,447 (GRCm39) V181A probably damaging Het
Igf2bp3 T C 6: 49,094,082 (GRCm39) probably null Het
Ikzf2 A G 1: 69,577,929 (GRCm39) *382Q probably null Het
Impg2 A C 16: 56,088,693 (GRCm39) H1073P probably benign Het
Incenp T C 19: 9,854,134 (GRCm39) E639G unknown Het
Kcne4 A G 1: 78,795,603 (GRCm39) M84V probably benign Het
Ktn1 T A 14: 47,957,713 (GRCm39) F1004I probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Malrd1 A G 2: 16,222,820 (GRCm39) I2040V probably damaging Het
Mau2 T C 8: 70,485,878 (GRCm39) D110G probably damaging Het
Mei1 T C 15: 82,009,076 (GRCm39) V1237A probably benign Het
Mfsd11 T G 11: 116,752,495 (GRCm39) probably null Het
Ncapd2 A G 6: 125,145,883 (GRCm39) F1293L probably benign Het
Nf1 A G 11: 79,440,294 (GRCm39) T280A probably damaging Het
Obscn G T 11: 58,928,411 (GRCm39) A6085E probably damaging Het
Or51b6b T A 7: 103,310,050 (GRCm39) I136F probably damaging Het
Pdzd2 C T 15: 12,375,993 (GRCm39) A1381T probably benign Het
Pramel41 T A 5: 94,594,891 (GRCm39) N250K possibly damaging Het
Ralgapa2 A G 2: 146,184,621 (GRCm39) V1462A probably damaging Het
Rbx1 T A 15: 81,355,163 (GRCm39) C56* probably null Het
Reln A G 5: 22,181,562 (GRCm39) S1774P probably damaging Het
Ros1 T A 10: 52,040,090 (GRCm39) E300D probably damaging Het
Sarnp T C 10: 128,684,137 (GRCm39) V111A possibly damaging Het
Scube1 G T 15: 83,513,636 (GRCm39) Q345K probably benign Het
Slc18b1 A G 10: 23,701,942 (GRCm39) probably null Het
Slc37a2 T A 9: 37,152,630 (GRCm39) T64S probably benign Het
Slit2 A G 5: 48,395,727 (GRCm39) D710G possibly damaging Het
Srp72 T A 5: 77,142,070 (GRCm39) Y375N possibly damaging Het
Tmco4 T A 4: 138,737,810 (GRCm39) V135D probably damaging Het
Trim62 A G 4: 128,802,955 (GRCm39) D335G probably damaging Het
Tsfm T C 10: 126,858,778 (GRCm39) M196V probably benign Het
Tspan10 T A 11: 120,335,522 (GRCm39) C211S probably damaging Het
Ttc21b A T 2: 66,061,656 (GRCm39) M498K probably benign Het
Ttc6 A T 12: 57,704,928 (GRCm39) probably null Het
Ttll1 G T 15: 83,386,397 (GRCm39) Y69* probably null Het
Usp28 T A 9: 48,912,842 (GRCm39) L31H probably damaging Het
Vmn2r86 A G 10: 130,282,400 (GRCm39) S739P probably damaging Het
Wdr64 T A 1: 175,533,555 (GRCm39) F64I probably damaging Het
Ywhaq A G 12: 21,446,281 (GRCm39) probably null Het
Zfr T C 15: 12,150,409 (GRCm39) S459P probably damaging 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
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'- GGACCAACCACTTACTGTTCC -3'
(R):5'- AGATGACTCTGGCTCTGGAAG -3'

Sequencing Primer
(F):5'- GAGGAATTTCCCTCCAATAGTGC -3'
(R):5'- TCTGGAAGAGAAGGACAGGTCTG -3'
Posted On 2019-07-10