Incidental Mutation 'R0411:Pja2'
ID 36689
Institutional Source Beutler Lab
Gene Symbol Pja2
Ensembl Gene ENSMUSG00000024083
Gene Name praja ring finger ubiquitin ligase 2
Synonyms Neurodap1
MMRRC Submission 038613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0411 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 64588001-64638878 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 64594516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024888] [ENSMUST00000024889] [ENSMUST00000172733] [ENSMUST00000172818]
AlphaFold Q80U04
Predicted Effect probably benign
Transcript: ENSMUST00000024888
SMART Domains Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083

DomainStartEndE-ValueType
low complexity region 532 548 N/A INTRINSIC
RING 633 673 3.84e-6 SMART
low complexity region 678 703 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000024889
SMART Domains Protein: ENSMUSP00000024889
Gene: ENSMUSG00000024083

DomainStartEndE-ValueType
low complexity region 470 486 N/A INTRINSIC
RING 571 611 3.84e-6 SMART
low complexity region 616 641 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172733
SMART Domains Protein: ENSMUSP00000133730
Gene: ENSMUSG00000024083

DomainStartEndE-ValueType
low complexity region 470 486 N/A INTRINSIC
RING 571 611 3.84e-6 SMART
low complexity region 616 641 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172818
SMART Domains Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083

DomainStartEndE-ValueType
low complexity region 532 548 N/A INTRINSIC
RING 633 673 3.84e-6 SMART
low complexity region 678 703 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,053,834 (GRCm39) probably benign Het
6030469F06Rik A T 12: 31,234,730 (GRCm39) noncoding transcript Het
Acad11 T C 9: 103,993,495 (GRCm39) F541L probably damaging Het
Acin1 G T 14: 54,884,231 (GRCm39) R92S probably damaging Het
Appl1 A G 14: 26,662,213 (GRCm39) S490P probably benign Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Arih1 A T 9: 59,393,266 (GRCm39) I122N possibly damaging Het
Bmi1 T C 2: 18,687,983 (GRCm39) probably benign Het
Bmpr1a G A 14: 34,137,834 (GRCm39) T391I possibly damaging Het
Cacna1s A G 1: 136,041,041 (GRCm39) K1256E probably damaging Het
Cacng3 C T 7: 122,367,795 (GRCm39) P225L probably damaging Het
Cd101 A T 3: 100,925,843 (GRCm39) probably null Het
Cd55 A G 1: 130,390,294 (GRCm39) probably benign Het
Cenpe T C 3: 134,928,016 (GRCm39) I258T probably damaging Het
Cfap251 C T 5: 123,428,117 (GRCm39) T538M probably damaging Het
Cma2 A G 14: 56,211,135 (GRCm39) probably benign Het
Ddost T A 4: 138,036,964 (GRCm39) S176T probably benign Het
Ddx19b A T 8: 111,750,596 (GRCm39) probably null Het
Dmxl2 A G 9: 54,286,223 (GRCm39) I2681T probably damaging Het
Ern1 C T 11: 106,289,412 (GRCm39) E964K probably benign Het
Exoc1l G T 5: 76,648,334 (GRCm39) V47L possibly damaging Het
Galntl5 C T 5: 25,425,172 (GRCm39) R430C probably benign Het
Gga3 A G 11: 115,478,259 (GRCm39) L511P probably damaging Het
Gria2 C T 3: 80,618,165 (GRCm39) probably benign Het
Hmbs A T 9: 44,252,949 (GRCm39) L28* probably null Het
Iffo2 A G 4: 139,330,532 (GRCm39) E220G probably damaging Het
Ifi30 A G 8: 71,217,562 (GRCm39) probably benign Het
Irf2 T A 8: 47,299,096 (GRCm39) C297S probably benign Het
Izumo4 T C 10: 80,538,918 (GRCm39) Y94H probably damaging Het
Klhdc9 A G 1: 171,187,353 (GRCm39) V215A probably benign Het
Kmt2a T C 9: 44,731,261 (GRCm39) probably benign Het
Kmt2c A T 5: 25,580,955 (GRCm39) C513S probably damaging Het
Lyg1 A T 1: 37,988,977 (GRCm39) M81K possibly damaging Het
Maip1 T G 1: 57,454,852 (GRCm39) W279G probably damaging Het
Myo7a T C 7: 97,721,144 (GRCm39) T1263A probably benign Het
Naa15 T A 3: 51,373,060 (GRCm39) I701N possibly damaging Het
Ncoa3 A G 2: 165,910,463 (GRCm39) N1292S probably benign Het
Necab2 T A 8: 120,180,979 (GRCm39) probably benign Het
Nfatc1 T A 18: 80,741,257 (GRCm39) I234F possibly damaging Het
Olfm1 G A 2: 28,098,223 (GRCm39) R95K possibly damaging Het
Or10ag56 A G 2: 87,139,402 (GRCm39) T90A probably benign Het
Or10ak8 A T 4: 118,773,823 (GRCm39) N280K possibly damaging Het
Otoa T C 7: 120,755,750 (GRCm39) probably null Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pard6g A G 18: 80,160,337 (GRCm39) D150G probably damaging Het
Pax5 A G 4: 44,609,783 (GRCm39) L215S probably damaging Het
Plk4 T A 3: 40,765,654 (GRCm39) probably benign Het
Polr1a A T 6: 71,955,405 (GRCm39) H1687L possibly damaging Het
Ptcd2 G A 13: 99,479,899 (GRCm39) L41F probably damaging Het
Ropn1 T A 16: 34,490,334 (GRCm39) S62T probably benign Het
Setd1a T C 7: 127,395,223 (GRCm39) probably benign Het
Setdb1 T C 3: 95,234,997 (GRCm39) D902G probably damaging Het
Sik3 T A 9: 46,120,068 (GRCm39) L719Q probably damaging Het
Slc36a1 G T 11: 55,123,333 (GRCm39) V433F probably benign Het
Slc6a3 T C 13: 73,705,169 (GRCm39) V220A possibly damaging Het
Slc6a5 A T 7: 49,561,539 (GRCm39) R24W probably damaging Het
Smox G T 2: 131,362,564 (GRCm39) R281L probably benign Het
Sulf2 G T 2: 165,935,436 (GRCm39) H226N probably damaging Het
Syne2 C T 12: 76,106,358 (GRCm39) probably null Het
Tenm3 C T 8: 48,740,826 (GRCm39) S1210N possibly damaging Het
Tns1 A T 1: 73,964,920 (GRCm39) V1237E probably damaging Het
Trf C T 9: 103,094,700 (GRCm39) V92M probably damaging Het
Ttn A G 2: 76,539,717 (GRCm39) V34423A possibly damaging Het
Vmn2r118 A G 17: 55,918,021 (GRCm39) probably benign Het
Vmn2r19 A G 6: 123,286,703 (GRCm39) Y112C probably damaging Het
Zfp326 G T 5: 106,026,641 (GRCm39) A15S possibly damaging Het
Other mutations in Pja2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Pja2 APN 17 64,590,526 (GRCm39) missense probably damaging 1.00
IGL00945:Pja2 APN 17 64,616,391 (GRCm39) missense probably benign 0.00
IGL01347:Pja2 APN 17 64,620,023 (GRCm39) missense probably benign 0.34
IGL01831:Pja2 APN 17 64,616,402 (GRCm39) missense probably benign 0.02
IGL01977:Pja2 APN 17 64,604,821 (GRCm39) missense probably benign 0.02
IGL02812:Pja2 APN 17 64,604,789 (GRCm39) missense probably damaging 1.00
G1patch:Pja2 UTSW 17 64,596,962 (GRCm39) missense probably damaging 1.00
H8441:Pja2 UTSW 17 64,618,192 (GRCm39) missense probably damaging 1.00
R0062:Pja2 UTSW 17 64,615,966 (GRCm39) missense probably damaging 1.00
R0062:Pja2 UTSW 17 64,615,966 (GRCm39) missense probably damaging 1.00
R1240:Pja2 UTSW 17 64,616,613 (GRCm39) missense probably benign 0.00
R1528:Pja2 UTSW 17 64,616,217 (GRCm39) missense possibly damaging 0.75
R1996:Pja2 UTSW 17 64,594,639 (GRCm39) critical splice acceptor site probably null
R2111:Pja2 UTSW 17 64,597,031 (GRCm39) missense probably damaging 1.00
R2162:Pja2 UTSW 17 64,616,397 (GRCm39) missense probably benign 0.00
R2201:Pja2 UTSW 17 64,618,162 (GRCm39) splice site probably benign
R2276:Pja2 UTSW 17 64,599,865 (GRCm39) missense probably damaging 1.00
R2278:Pja2 UTSW 17 64,599,865 (GRCm39) missense probably damaging 1.00
R3831:Pja2 UTSW 17 64,616,397 (GRCm39) missense probably benign 0.00
R3833:Pja2 UTSW 17 64,616,397 (GRCm39) missense probably benign 0.00
R4598:Pja2 UTSW 17 64,620,025 (GRCm39) start codon destroyed probably null 0.69
R4801:Pja2 UTSW 17 64,599,857 (GRCm39) missense probably damaging 1.00
R4802:Pja2 UTSW 17 64,599,857 (GRCm39) missense probably damaging 1.00
R4983:Pja2 UTSW 17 64,616,053 (GRCm39) missense probably benign 0.00
R5634:Pja2 UTSW 17 64,599,862 (GRCm39) missense probably damaging 1.00
R5862:Pja2 UTSW 17 64,604,821 (GRCm39) missense probably benign 0.02
R5905:Pja2 UTSW 17 64,616,085 (GRCm39) missense probably benign 0.26
R6028:Pja2 UTSW 17 64,616,085 (GRCm39) missense probably benign 0.26
R6382:Pja2 UTSW 17 64,616,610 (GRCm39) missense probably benign 0.07
R6650:Pja2 UTSW 17 64,599,936 (GRCm39) missense probably damaging 1.00
R6725:Pja2 UTSW 17 64,596,962 (GRCm39) missense probably damaging 1.00
R6976:Pja2 UTSW 17 64,615,954 (GRCm39) missense probably damaging 1.00
R7250:Pja2 UTSW 17 64,616,451 (GRCm39) missense probably benign 0.01
R7389:Pja2 UTSW 17 64,604,722 (GRCm39) missense probably damaging 1.00
R7477:Pja2 UTSW 17 64,616,640 (GRCm39) missense possibly damaging 0.87
R7549:Pja2 UTSW 17 64,616,410 (GRCm39) missense probably damaging 0.98
R8405:Pja2 UTSW 17 64,616,505 (GRCm39) missense possibly damaging 0.87
R8458:Pja2 UTSW 17 64,599,843 (GRCm39) missense probably damaging 1.00
R8700:Pja2 UTSW 17 64,599,949 (GRCm39) missense probably damaging 1.00
R9128:Pja2 UTSW 17 64,616,470 (GRCm39) missense probably benign
R9336:Pja2 UTSW 17 64,590,432 (GRCm39) missense unknown
R9356:Pja2 UTSW 17 64,618,204 (GRCm39) missense probably damaging 1.00
R9658:Pja2 UTSW 17 64,599,868 (GRCm39) missense probably damaging 1.00
Z1176:Pja2 UTSW 17 64,599,864 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGGCCGATGGCTAAGAACAAC -3'
(R):5'- CCAAGCTTACGGGCTTTCTACAGAC -3'

Sequencing Primer
(F):5'- TTAACTGGCAAGTACGACTAGC -3'
(R):5'- GAGACATCTTAAAGATGGTTTCCC -3'
Posted On 2013-05-09