Incidental Mutation 'R7389:Pja2'
ID 573330
Institutional Source Beutler Lab
Gene Symbol Pja2
Ensembl Gene ENSMUSG00000024083
Gene Name praja ring finger ubiquitin ligase 2
Synonyms Neurodap1
MMRRC Submission 045471-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7389 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 64588001-64638878 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64604722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 487 (E487V)
Ref Sequence ENSEMBL: ENSMUSP00000134380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024888] [ENSMUST00000024889] [ENSMUST00000172733] [ENSMUST00000172818]
AlphaFold Q80U04
Predicted Effect probably damaging
Transcript: ENSMUST00000024888
AA Change: E487V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083
AA Change: E487V

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 damaging
Transcript: ENSMUST00000172818
AA Change: E487V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083
AA Change: E487V

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
Meta Mutation Damage Score 0.0671 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C A 14: 25,873,312 (GRCm39) P182Q probably damaging Het
Asns C A 6: 7,689,291 (GRCm39) L70F probably damaging Het
Cntrl A T 2: 35,017,529 (GRCm39) K445N probably benign Het
Cyp2c50 G T 19: 40,079,107 (GRCm39) R150L probably benign Het
Dqx1 G T 6: 83,041,775 (GRCm39) S539I probably null Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Epha3 T C 16: 63,593,347 (GRCm39) E247G probably damaging Het
Etl4 C T 2: 20,789,904 (GRCm39) Q801* probably null Het
Fabp2 G T 3: 122,689,014 (GRCm39) probably benign Het
Fsip2 G A 2: 82,819,140 (GRCm39) V4958I possibly damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Hdgfl2 T G 17: 56,406,389 (GRCm39) probably null Het
Igfn1 T C 1: 135,894,785 (GRCm39) D1927G probably benign Het
Ino80 A C 2: 119,273,010 (GRCm39) S489A probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lrriq3 A G 3: 154,893,741 (GRCm39) T481A probably benign Het
Map2k3 A T 11: 60,822,862 (GRCm39) probably benign Het
Matr3 A G 18: 35,717,638 (GRCm39) T617A probably benign Het
Mybpc2 T G 7: 44,155,028 (GRCm39) T960P probably benign Het
Ncoa2 T C 1: 13,257,049 (GRCm39) N150S possibly damaging Het
Nup153 A T 13: 46,854,463 (GRCm39) probably null Het
Obscn A G 11: 58,927,226 (GRCm39) L5498P probably benign Het
Or5b21 G T 19: 12,839,981 (GRCm39) V281L probably benign Het
Or5v1b A G 17: 37,841,548 (GRCm39) R227G possibly damaging Het
Paqr8 C A 1: 21,005,389 (GRCm39) P181Q probably damaging Het
Pcdhgb4 T C 18: 37,855,416 (GRCm39) Y604H probably damaging Het
Pnpla6 C T 8: 3,593,981 (GRCm39) R1331* probably null Het
Ppl T A 16: 4,924,577 (GRCm39) probably null Het
Rhbdl3 T A 11: 80,237,665 (GRCm39) M299K possibly damaging Het
Scart1 A G 7: 139,808,704 (GRCm39) K872E possibly damaging Het
Slc26a9 A G 1: 131,696,986 (GRCm39) *791W probably null Het
Slc7a2 A G 8: 41,365,552 (GRCm39) Y461C probably benign Het
Sptb G T 12: 76,671,003 (GRCm39) Q447K probably damaging Het
Ssh1 A T 5: 114,096,892 (GRCm39) I205N probably benign Het
Stab1 C T 14: 30,869,196 (GRCm39) V1511I probably benign Het
Tex19.1 T C 11: 121,037,986 (GRCm39) W115R possibly damaging Het
Tinf2 G T 14: 55,918,167 (GRCm39) probably null Het
Tmeff1 A G 4: 48,617,097 (GRCm39) probably null Het
Tnip2 G T 5: 34,671,145 (GRCm39) Q33K probably benign Het
Traf3 C A 12: 111,204,187 (GRCm39) L59M probably damaging Het
Trav14d-3-dv8 T C 14: 53,316,328 (GRCm39) Y63H possibly damaging Het
Trim11 C T 11: 58,881,481 (GRCm39) S458L probably damaging Het
Tspan18 A T 2: 93,040,272 (GRCm39) V161E probably benign Het
Usf3 T A 16: 44,038,304 (GRCm39) V928E probably benign Het
Usp29 G A 7: 6,966,457 (GRCm39) V767I possibly damaging Het
Usp34 T G 11: 23,295,200 (GRCm39) F287L Het
Vmn1r213 T C 13: 23,196,556 (GRCm39) C380R probably benign Het
Zfyve9 A G 4: 108,550,515 (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
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
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
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'- GAATTGCTAGCATGGAAGCG -3'
(R):5'- GCCCATAATGACTCCATCTGAC -3'

Sequencing Primer
(F):5'- TGGAAGCGTGTCCCCTACAAAG -3'
(R):5'- CAGTTCAGAGTGCAGTGATGG -3'
Posted On 2019-09-13