Incidental Mutation 'R4947:Cdk5rap2'
ID 383482
Institutional Source Beutler Lab
Gene Symbol Cdk5rap2
Ensembl Gene ENSMUSG00000039298
Gene Name CDK5 regulatory subunit associated protein 2
Synonyms an, 2900018K03Rik
MMRRC Submission 042544-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R4947 (G1)
Quality Score 151
Status Validated
Chromosome 4
Chromosomal Location 70135092-70328672 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 70146829 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.4%
Validation Efficiency 100% (88/88)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 130,959,343 (GRCm39) H119L probably damaging Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Adamtsl1 A T 4: 85,683,037 (GRCm39) Q36L possibly damaging Het
Bcl2a1a G A 9: 88,839,335 (GRCm39) E78K probably damaging Het
Copg1 C A 6: 87,880,455 (GRCm39) probably benign Het
Crb2 C T 2: 37,685,343 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,142,127 (GRCm39) Y83C probably damaging Het
Ctbp2 C A 7: 132,601,012 (GRCm39) G584C probably damaging Het
Cyp11b2 T C 15: 74,723,419 (GRCm39) N415S possibly damaging Het
D630003M21Rik T A 2: 158,028,116 (GRCm39) T1095S unknown Het
D630045J12Rik C T 6: 38,125,478 (GRCm39) R1512H probably damaging Het
Dnah5 T A 15: 28,272,518 (GRCm39) V1078E probably benign Het
Donson A T 16: 91,479,439 (GRCm39) D366E probably damaging Het
Evpl T C 11: 116,114,201 (GRCm39) E1163G possibly damaging Het
Fcgbp A G 7: 27,789,237 (GRCm39) K601R probably benign Het
Fez1 A C 9: 36,780,171 (GRCm39) I323L probably damaging Het
Flacc1 T A 1: 58,715,698 (GRCm39) T173S probably benign Het
Fmnl2 T G 2: 52,963,722 (GRCm39) S285A probably benign Het
Frem1 A G 4: 82,884,371 (GRCm39) S1194P probably damaging Het
Gm10754 A T 10: 97,518,010 (GRCm39) probably benign Het
Gm14226 A T 2: 154,866,879 (GRCm39) T279S probably benign Het
Gm16332 G A 1: 139,793,730 (GRCm39) noncoding transcript Het
Gm21718 T A 14: 51,553,416 (GRCm39) noncoding transcript Het
Gm9871 A G 6: 101,773,734 (GRCm39) noncoding transcript Het
Grm1 A G 10: 10,658,377 (GRCm39) F371S probably damaging Het
Gtdc1 T C 2: 44,481,968 (GRCm39) I128V probably null Het
H2-Q3 T A 17: 35,578,708 (GRCm39) noncoding transcript Het
Ibtk T C 9: 85,592,465 (GRCm39) T998A probably benign Het
Ifi204 A G 1: 173,583,316 (GRCm39) S301P probably damaging Het
Kcnn1 C A 8: 71,297,073 (GRCm39) A545S probably benign Het
Keap1 T G 9: 21,148,849 (GRCm39) S53R probably benign Het
Lat A G 7: 125,967,110 (GRCm39) V138A probably benign Het
Lrpprc A T 17: 85,078,966 (GRCm39) N249K probably benign Het
Lrrc40 A G 3: 157,769,472 (GRCm39) I557V probably benign Het
Maml3 A G 3: 51,763,960 (GRCm39) F335L probably benign Het
Mcmbp A T 7: 128,314,420 (GRCm39) D265E probably damaging Het
Me3 A G 7: 89,282,222 (GRCm39) H35R probably benign Het
Mif4gd C A 11: 115,500,463 (GRCm39) V32L probably benign Het
Mlana T C 19: 29,677,551 (GRCm39) S18P probably damaging Het
Mpnd T A 17: 56,317,268 (GRCm39) probably benign Het
Ms4a4b T C 19: 11,432,101 (GRCm39) V74A probably benign Het
Mta2 T C 19: 8,923,655 (GRCm39) F133L possibly damaging Het
Myo5a A G 9: 75,030,330 (GRCm39) M150V probably damaging Het
Nbr1 T C 11: 101,465,903 (GRCm39) V487A probably benign Het
Nos3 G A 5: 24,582,853 (GRCm39) C660Y probably damaging Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Or12d17 T C 17: 37,777,634 (GRCm39) V179A probably damaging Het
Or1e1c C T 11: 73,266,243 (GRCm39) R223* probably null Het
Or52n5 A G 7: 104,587,949 (GRCm39) D72G possibly damaging Het
Or5h18 A G 16: 58,847,808 (GRCm39) L154P probably damaging Het
Pcdh7 A G 5: 57,879,258 (GRCm39) K938E probably damaging Het
Pcgf3 T C 5: 108,635,827 (GRCm39) F166L probably benign Het
Pid1 A T 1: 84,015,981 (GRCm39) V128E possibly damaging Het
Polr3a A C 14: 24,532,532 (GRCm39) D187E probably benign Het
Prokr2 T C 2: 132,215,573 (GRCm39) D135G probably damaging Het
Rnf141 T C 7: 110,424,527 (GRCm39) T14A possibly damaging Het
Serinc1 T C 10: 57,399,141 (GRCm39) E254G probably damaging Het
Silc1 A T 12: 27,210,227 (GRCm39) noncoding transcript Het
Skint11 T C 4: 114,048,707 (GRCm39) F11L possibly damaging Het
Slc22a28 T C 19: 8,108,816 (GRCm39) T109A probably benign Het
Sntg1 C A 1: 8,853,022 (GRCm39) V43L probably damaging Het
Sp140l2 G A 1: 85,090,203 (GRCm39) A124V probably damaging Het
Strn T C 17: 78,969,208 (GRCm39) D398G probably damaging Het
Tacc2 A T 7: 130,227,629 (GRCm39) E1438V probably damaging Het
Tas2r139 A G 6: 42,118,500 (GRCm39) T211A possibly damaging Het
Tbkbp1 T C 11: 97,029,770 (GRCm39) probably benign Het
Thbs3 T C 3: 89,133,738 (GRCm39) Y897H probably damaging Het
Timm50 G T 7: 28,009,469 (GRCm39) probably benign Het
Tmem132a T C 19: 10,844,298 (GRCm39) Q100R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Unc93b1 C A 19: 3,985,871 (GRCm39) T90K probably benign Het
Upk3bl T C 5: 136,086,099 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,821,860 (GRCm39) H179Q probably benign Het
Vmn2r57 A T 7: 41,049,919 (GRCm39) F610Y probably damaging Het
Vmn2r80 T G 10: 79,030,532 (GRCm39) L786R probably damaging Het
Zc3h14 A G 12: 98,726,083 (GRCm39) T323A probably benign Het
Zfp532 T C 18: 65,758,137 (GRCm39) I690T possibly damaging Het
Zfp729b T C 13: 67,744,791 (GRCm39) N47S 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
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'- AGTCCTGCCAGAATTGACTGTG -3'
(R):5'- GCTAGTGAGGTTGAGTTGAACATC -3'

Sequencing Primer
(F):5'- CCAGAATTGACTGTGTGTTGAAAAG -3'
(R):5'- AGTGAGGTTGAGTTGAACATCTTTTG -3'
Posted On 2016-04-27