Incidental Mutation 'R4569:Cdk2ap2'
ID 342043
Institutional Source Beutler Lab
Gene Symbol Cdk2ap2
Ensembl Gene ENSMUSG00000024856
Gene Name cyclin dependent kinase 2 associated protein 2
Synonyms 5830466O21Rik
MMRRC Submission 041793-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4569 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4147182-4149019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4147879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 49 (F49L)
Ref Sequence ENSEMBL: ENSMUSP00000025779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025779] [ENSMUST00000049658] [ENSMUST00000100022] [ENSMUST00000131265] [ENSMUST00000174799] [ENSMUST00000174514] [ENSMUST00000174149]
AlphaFold Q9CPY4
Predicted Effect possibly damaging
Transcript: ENSMUST00000025779
AA Change: F49L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025779
Gene: ENSMUSG00000024856
AA Change: F49L

DomainStartEndE-ValueType
low complexity region 7 44 N/A INTRINSIC
Pfam:CDK2AP 58 126 1.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049658
SMART Domains Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851

DomainStartEndE-ValueType
Pfam:IP_trans 1 252 2e-145 PFAM
low complexity region 284 304 N/A INTRINSIC
low complexity region 310 319 N/A INTRINSIC
low complexity region 342 349 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 557 571 N/A INTRINSIC
low complexity region 578 593 N/A INTRINSIC
DDHD 685 879 5.94e-86 SMART
Blast:DDHD 880 963 2e-42 BLAST
LNS2 1022 1153 1.35e-57 SMART
low complexity region 1184 1195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100022
SMART Domains Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851

DomainStartEndE-ValueType
Pfam:IP_trans 1 250 1.6e-113 PFAM
low complexity region 284 304 N/A INTRINSIC
low complexity region 310 319 N/A INTRINSIC
low complexity region 342 349 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 557 571 N/A INTRINSIC
low complexity region 578 593 N/A INTRINSIC
DDHD 685 879 5.94e-86 SMART
Blast:DDHD 880 963 2e-42 BLAST
LNS2 1022 1153 1.35e-57 SMART
low complexity region 1184 1195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131265
SMART Domains Protein: ENSMUSP00000120563
Gene: ENSMUSG00000024851

DomainStartEndE-ValueType
Pfam:IP_trans 1 252 5e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172914
Predicted Effect unknown
Transcript: ENSMUST00000174799
AA Change: F49L
SMART Domains Protein: ENSMUSP00000133593
Gene: ENSMUSG00000024856
AA Change: F49L

DomainStartEndE-ValueType
low complexity region 7 44 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174514
AA Change: F49L

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134093
Gene: ENSMUSG00000024856
AA Change: F49L

DomainStartEndE-ValueType
Pfam:CDK2AP 30 107 8.1e-26 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000174149
AA Change: F49L
SMART Domains Protein: ENSMUSP00000134613
Gene: ENSMUSG00000024856
AA Change: F49L

DomainStartEndE-ValueType
low complexity region 7 44 N/A INTRINSIC
Meta Mutation Damage Score 0.0634 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 99% (87/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,275,262 (GRCm39) T322A probably benign Het
Abhd13 C T 8: 10,038,071 (GRCm39) P223S possibly damaging Het
Adgra3 T A 5: 50,117,905 (GRCm39) L1214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd13a C A 5: 114,927,373 (GRCm39) P120Q probably damaging Het
Apbb1ip A G 2: 22,739,556 (GRCm39) Y277C probably damaging Het
Arfgap1 T C 2: 180,618,166 (GRCm39) probably benign Het
Arid2 T A 15: 96,290,343 (GRCm39) V1746D probably damaging Het
C1qtnf7 T A 5: 43,766,549 (GRCm39) N49K possibly damaging Het
Cacnb2 A T 2: 14,990,811 (GRCm39) D587V possibly damaging Het
Ccar2 A T 14: 70,389,359 (GRCm39) probably null Het
Cdon A T 9: 35,388,265 (GRCm39) I747F probably damaging Het
Cyp19a1 G A 9: 54,100,607 (GRCm39) P27S probably benign Het
Cyp4v3 T A 8: 45,760,029 (GRCm39) R508W probably damaging Het
Dclk1 T C 3: 55,154,831 (GRCm39) L87P probably damaging Het
Ddx41 G A 13: 55,683,834 (GRCm39) R66C possibly damaging Het
Dmxl1 T C 18: 49,985,427 (GRCm39) Y225H probably damaging Het
Dnah7a G A 1: 53,450,818 (GRCm39) P3871S probably benign Het
Dnhd1 A G 7: 105,306,373 (GRCm39) probably null Het
Dph1 A T 11: 75,069,721 (GRCm39) probably benign Het
Egln2 A G 7: 26,859,008 (GRCm39) I382T probably damaging Het
Enpp3 A G 10: 24,652,780 (GRCm39) Y726H probably damaging Het
Fbxo32 A G 15: 58,044,873 (GRCm39) F353L probably damaging Het
Fchsd2 G A 7: 100,926,809 (GRCm39) G657D possibly damaging Het
Fer1l4 T A 2: 155,878,559 (GRCm39) E44V possibly damaging Het
Gjb2 C T 14: 57,337,762 (GRCm39) V149I probably benign Het
Glipr1l1 A G 10: 111,898,317 (GRCm39) M141V probably benign Het
Gnaq T C 19: 16,312,370 (GRCm39) S211P probably damaging Het
Gnl1 A G 17: 36,299,142 (GRCm39) R527G probably benign Het
Gns A G 10: 121,217,083 (GRCm39) Q286R probably benign Het
Gon4l T C 3: 88,817,397 (GRCm39) probably benign Het
Gpr107 T C 2: 31,097,677 (GRCm39) probably benign Het
Gprasp1 C T X: 134,703,592 (GRCm39) R1262C probably damaging Het
Gtf2ird1 A T 5: 134,439,857 (GRCm39) D124E probably damaging Het
Hbp1 T A 12: 32,000,231 (GRCm39) probably benign Het
Hrnr C T 3: 93,230,875 (GRCm39) T371I unknown Het
Ints2 A G 11: 86,147,024 (GRCm39) C41R probably damaging Het
Jhy A G 9: 40,822,389 (GRCm39) I583T probably benign Het
Jph4 G T 14: 55,352,503 (GRCm39) R77S probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl12 A T 1: 134,413,507 (GRCm39) I331F probably benign Het
Map4k4 G A 1: 40,039,698 (GRCm39) R30Q probably damaging Het
Mgst1 C A 6: 138,133,213 (GRCm39) T176K probably damaging Het
Negr1 C A 3: 156,914,013 (GRCm39) probably benign Het
Nrg1 C T 8: 32,407,802 (GRCm39) V144I probably benign Het
Ntmt2 T A 1: 163,530,586 (GRCm39) *284C probably null Het
Or1ad8 T C 11: 50,898,381 (GRCm39) I194T possibly damaging Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
Pex11b A T 3: 96,551,330 (GRCm39) probably benign Het
Phtf2 T C 5: 20,994,593 (GRCm39) probably benign Het
Ppip5k1 C T 2: 121,174,044 (GRCm39) R359Q possibly damaging Het
Prickle2 T C 6: 92,399,323 (GRCm39) I185V probably benign Het
Prrc2a G A 17: 35,377,473 (GRCm39) P562S unknown Het
Rdx A G 9: 51,980,141 (GRCm39) I245V probably benign Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rhob T G 12: 8,549,373 (GRCm39) D87A probably damaging Het
Ros1 T A 10: 52,040,090 (GRCm39) E300D probably damaging Het
Sbf2 A G 7: 109,948,060 (GRCm39) probably null Het
Sipa1l3 G T 7: 29,025,287 (GRCm39) P619Q probably damaging Het
Snupn A G 9: 56,885,346 (GRCm39) E217G probably benign Het
Ston2 T A 12: 91,606,496 (GRCm39) *896C probably null Het
Stradb C T 1: 59,019,117 (GRCm39) R13* probably null Het
Tbx21 G A 11: 97,005,581 (GRCm39) A128V probably benign Het
Tep1 A T 14: 51,062,197 (GRCm39) C2552S probably benign Het
Tgif1 A T 17: 71,151,912 (GRCm39) V233E possibly damaging Het
Trim31 A T 17: 37,209,633 (GRCm39) I130L probably benign Het
Trrap C T 5: 144,728,928 (GRCm39) T614I probably benign Het
Ttn C A 2: 76,766,758 (GRCm39) V3107F probably damaging Het
Txnrd2 T G 16: 18,274,956 (GRCm39) D322E probably benign Het
Unc45b T A 11: 82,827,315 (GRCm39) probably null Het
Usp43 C T 11: 67,789,788 (GRCm39) C252Y probably damaging Het
Usp43 A T 11: 67,766,178 (GRCm39) L744* probably null Het
Vmn2r71 A C 7: 85,273,402 (GRCm39) K739Q possibly damaging Het
Vps16 C T 2: 130,284,124 (GRCm39) T653M probably benign Het
Wdr83os T A 8: 85,808,495 (GRCm39) S82R probably damaging Het
Xpo6 T A 7: 125,727,427 (GRCm39) L526F probably damaging Het
Zfhx4 G A 3: 5,466,894 (GRCm39) V2351I probably benign Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Other mutations in Cdk2ap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4402001:Cdk2ap2 UTSW 19 4,148,557 (GRCm39) missense probably damaging 0.98
R2001:Cdk2ap2 UTSW 19 4,147,903 (GRCm39) missense possibly damaging 0.88
R2002:Cdk2ap2 UTSW 19 4,147,903 (GRCm39) missense possibly damaging 0.88
R4942:Cdk2ap2 UTSW 19 4,147,508 (GRCm39) critical splice donor site probably null
R5472:Cdk2ap2 UTSW 19 4,148,048 (GRCm39) missense probably benign 0.01
R8843:Cdk2ap2 UTSW 19 4,147,429 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CACGTAGAGCTTGTAGGTGG -3'
(R):5'- CCTCTATGACAGACAGCAGG -3'

Sequencing Primer
(F):5'- CTCCGAAGTTGTTCAGAGTGGAATG -3'
(R):5'- ACAGCAGGTCCGTGTAGGTG -3'
Posted On 2015-09-24