Incidental Mutation 'IGL01347:Pja2'
ID 75094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pja2
Ensembl Gene ENSMUSG00000024083
Gene Name praja ring finger ubiquitin ligase 2
Synonyms Neurodap1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01347
Quality Score
Status
Chromosome 17
Chromosomal Location 64588001-64638878 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 64620023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 2 (S2A)
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
AA Change: S2A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083
AA Change: S2A

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
AA Change: S2A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024889
Gene: ENSMUSG00000024083
AA Change: S2A

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
AA Change: S2A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133730
Gene: ENSMUSG00000024083
AA Change: S2A

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
AA Change: S2A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083
AA Change: S2A

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null 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
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
R0411:Pja2 UTSW 17 64,594,516 (GRCm39) splice site probably benign
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
Posted On 2013-10-07