Incidental Mutation 'R2183:Trp53rkb'
ID 237275
Institutional Source Beutler Lab
Gene Symbol Trp53rkb
Ensembl Gene ENSMUSG00000042854
Gene Name transformation related protein 53 regulating kinase B
Synonyms mNori-2p, Nori-2, 5630401H01Rik, PRPK, 4933401B08Rik, Trp53rk
MMRRC Submission 040185-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.803) question?
Stock # R2183 (G1)
Quality Score 206
Status Not validated
Chromosome 2
Chromosomal Location 166634451-166641425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 166635877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 73 (V73L)
Ref Sequence ENSEMBL: ENSMUSP00000066907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065753] [ENSMUST00000151826]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051923
Predicted Effect possibly damaging
Transcript: ENSMUST00000065753
AA Change: V73L

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066907
Gene: ENSMUSG00000042854
AA Change: V73L

DomainStartEndE-ValueType
low complexity region 29 49 N/A INTRINSIC
low complexity region 107 137 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151826
AA Change: V49L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115353
Gene: ENSMUSG00000042854
AA Change: V49L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 24 189 1.1e-6 PFAM
Pfam:Pkinase 25 201 5.8e-9 PFAM
Pfam:Kdo 31 216 1.4e-13 PFAM
Pfam:RIO1 36 185 3.8e-10 PFAM
low complexity region 219 230 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 T C 15: 102,454,908 (GRCm39) T287A possibly damaging Het
Atg9b C T 5: 24,595,491 (GRCm39) A263T probably benign Het
Cc2d1a A T 8: 84,867,028 (GRCm39) H371Q probably damaging Het
Ccdc39 T C 3: 33,875,581 (GRCm39) N537S possibly damaging Het
Cdc6 A T 11: 98,799,524 (GRCm39) K17* probably null Het
Cemip2 G A 19: 21,801,157 (GRCm39) R758Q possibly damaging Het
Cenpk T C 13: 104,370,671 (GRCm39) M64T probably damaging Het
Dhx57 T A 17: 80,582,760 (GRCm39) T282S probably benign Het
Frem1 G A 4: 82,909,732 (GRCm39) T757I probably benign Het
Gcsh A T 8: 117,715,885 (GRCm39) V66E probably damaging Het
Gdpd1 T C 11: 86,926,102 (GRCm39) N281S probably damaging Het
Hs1bp3 T C 12: 8,371,610 (GRCm39) V97A possibly damaging Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Irag1 A T 7: 110,498,189 (GRCm39) L402Q probably damaging Het
Lama1 A G 17: 68,098,004 (GRCm39) N1795D probably damaging Het
Larp4 T C 15: 99,909,778 (GRCm39) V627A probably benign Het
Lrp8 T C 4: 107,660,462 (GRCm39) C41R probably damaging Het
Mroh2b T A 15: 4,947,707 (GRCm39) probably null Het
Nebl T C 2: 17,409,027 (GRCm39) D357G probably damaging Het
Nrg2 T C 18: 36,329,804 (GRCm39) K137R probably benign Het
Or14c43 T A 7: 86,115,594 (GRCm39) V325E probably benign Het
Or1j14 C T 2: 36,417,723 (GRCm39) Q100* probably null Het
Or5t7 A T 2: 86,507,380 (GRCm39) M99K probably benign Het
Phc1 C A 6: 122,300,284 (GRCm39) V487L probably damaging Het
Piezo2 A G 18: 63,239,345 (GRCm39) V745A probably damaging Het
Proca1 A T 11: 78,094,975 (GRCm39) H83L possibly damaging Het
Prpf4 G A 4: 62,330,046 (GRCm39) V107I probably damaging Het
Ptprz1 G A 6: 23,002,284 (GRCm39) R1458Q probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbsn C A 6: 92,166,618 (GRCm39) L675F probably benign Het
Recql5 T C 11: 115,787,613 (GRCm39) S514G probably benign Het
Scai G A 2: 38,970,138 (GRCm39) T542I probably benign Het
Sftpa1 G T 14: 40,854,823 (GRCm39) D73Y probably damaging Het
Sgms2 A C 3: 131,129,934 (GRCm39) probably null Het
Spart A G 3: 55,024,554 (GRCm39) I50V probably benign Het
Spata7 A T 12: 98,603,871 (GRCm39) K47N probably damaging Het
Tbx18 T A 9: 87,587,789 (GRCm39) T443S probably damaging Het
Tmem130 T C 5: 144,692,242 (GRCm39) D54G possibly damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Wwc2 A T 8: 48,295,961 (GRCm39) L1103H unknown Het
Yes1 T A 5: 32,802,370 (GRCm39) V95E probably damaging Het
Zfp971 T A 2: 177,675,533 (GRCm39) H377Q probably damaging Het
Zzef1 C T 11: 72,777,544 (GRCm39) R1792* probably null Het
Other mutations in Trp53rkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02029:Trp53rkb APN 2 166,637,314 (GRCm39) missense probably damaging 1.00
R0200:Trp53rkb UTSW 2 166,637,603 (GRCm39) missense probably damaging 1.00
R0841:Trp53rkb UTSW 2 166,637,430 (GRCm39) missense probably benign 0.02
R1921:Trp53rkb UTSW 2 166,637,743 (GRCm39) missense probably damaging 1.00
R3116:Trp53rkb UTSW 2 166,636,009 (GRCm39) intron probably benign
R3925:Trp53rkb UTSW 2 166,637,392 (GRCm39) missense probably damaging 1.00
R3977:Trp53rkb UTSW 2 166,637,446 (GRCm39) missense possibly damaging 0.65
R4191:Trp53rkb UTSW 2 166,637,395 (GRCm39) missense probably damaging 1.00
R8494:Trp53rkb UTSW 2 166,637,779 (GRCm39) makesense probably null
R9366:Trp53rkb UTSW 2 166,637,700 (GRCm39) missense possibly damaging 0.78
R9425:Trp53rkb UTSW 2 166,637,542 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CACTAGCAGGGTGAAGTGTG -3'
(R):5'- AAAACTACCCAGGGCGTTG -3'

Sequencing Primer
(F):5'- GGATTTCCGAAGCGAGCG -3'
(R):5'- AAACTACCCAGGGCGTTGTTATTTG -3'
Posted On 2014-10-02