Incidental Mutation 'IGL03061:Pdzrn3'
ID 409443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzrn3
Ensembl Gene ENSMUSG00000035357
Gene Name PDZ domain containing RING finger 3
Synonyms 1110020C07Rik, semaphorin cytoplasmic domain-associated protein 3A, LNX3, Semcap3
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # IGL03061
Quality Score
Status
Chromosome 6
Chromosomal Location 101126570-101354858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101128816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 617 (D617Y)
Ref Sequence ENSEMBL: ENSMUSP00000075376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075994]
AlphaFold Q69ZS0
Predicted Effect probably damaging
Transcript: ENSMUST00000075994
AA Change: D617Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: D617Y

DomainStartEndE-ValueType
RING 18 55 3.93e-3 SMART
low complexity region 198 214 N/A INTRINSIC
PDZ 257 339 3.38e-21 SMART
PDZ 429 504 3.86e-16 SMART
low complexity region 512 526 N/A INTRINSIC
low complexity region 660 671 N/A INTRINSIC
low complexity region 1020 1029 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204522
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in Pdzrn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Pdzrn3 APN 6 101,331,447 (GRCm39) missense probably benign 0.01
IGL01511:Pdzrn3 APN 6 101,130,217 (GRCm39) missense possibly damaging 0.66
IGL01554:Pdzrn3 APN 6 101,127,502 (GRCm39) missense probably damaging 1.00
IGL02450:Pdzrn3 APN 6 101,331,461 (GRCm39) missense probably damaging 1.00
IGL02505:Pdzrn3 APN 6 101,128,899 (GRCm39) missense possibly damaging 0.94
IGL03210:Pdzrn3 APN 6 101,133,913 (GRCm39) missense possibly damaging 0.95
gefilte UTSW 6 101,131,153 (GRCm39) critical splice donor site probably null
implevit_bonis UTSW 6 101,127,983 (GRCm39) missense probably benign 0.15
predisposition UTSW 6 101,128,014 (GRCm39) missense probably damaging 1.00
tendency UTSW 6 101,128,389 (GRCm39) missense probably damaging 1.00
PIT4581001:Pdzrn3 UTSW 6 101,128,464 (GRCm39) missense probably benign 0.00
R0110:Pdzrn3 UTSW 6 101,128,014 (GRCm39) missense probably damaging 1.00
R0469:Pdzrn3 UTSW 6 101,128,014 (GRCm39) missense probably damaging 1.00
R0496:Pdzrn3 UTSW 6 101,127,531 (GRCm39) missense possibly damaging 0.94
R0510:Pdzrn3 UTSW 6 101,128,014 (GRCm39) missense probably damaging 1.00
R0883:Pdzrn3 UTSW 6 101,132,903 (GRCm39) splice site probably null
R1171:Pdzrn3 UTSW 6 101,127,838 (GRCm39) missense probably damaging 1.00
R1471:Pdzrn3 UTSW 6 101,128,473 (GRCm39) missense possibly damaging 0.77
R1496:Pdzrn3 UTSW 6 101,127,930 (GRCm39) missense probably benign 0.00
R1596:Pdzrn3 UTSW 6 101,127,966 (GRCm39) missense probably benign 0.03
R2033:Pdzrn3 UTSW 6 101,127,915 (GRCm39) missense probably damaging 1.00
R2068:Pdzrn3 UTSW 6 101,127,660 (GRCm39) missense probably damaging 1.00
R2084:Pdzrn3 UTSW 6 101,131,256 (GRCm39) missense probably benign 0.35
R2432:Pdzrn3 UTSW 6 101,127,752 (GRCm39) missense probably damaging 1.00
R3727:Pdzrn3 UTSW 6 101,133,906 (GRCm39) missense probably damaging 0.98
R3861:Pdzrn3 UTSW 6 101,149,332 (GRCm39) missense possibly damaging 0.95
R4616:Pdzrn3 UTSW 6 101,128,970 (GRCm39) missense probably damaging 0.99
R4967:Pdzrn3 UTSW 6 101,128,551 (GRCm39) missense probably damaging 1.00
R5224:Pdzrn3 UTSW 6 101,130,272 (GRCm39) missense probably damaging 1.00
R5226:Pdzrn3 UTSW 6 101,130,272 (GRCm39) missense probably damaging 1.00
R5227:Pdzrn3 UTSW 6 101,130,272 (GRCm39) missense probably damaging 1.00
R5230:Pdzrn3 UTSW 6 101,130,272 (GRCm39) missense probably damaging 1.00
R5320:Pdzrn3 UTSW 6 101,128,064 (GRCm39) missense probably damaging 1.00
R5414:Pdzrn3 UTSW 6 101,130,272 (GRCm39) missense probably damaging 1.00
R5686:Pdzrn3 UTSW 6 101,128,389 (GRCm39) missense probably damaging 1.00
R5772:Pdzrn3 UTSW 6 101,149,275 (GRCm39) missense probably benign 0.00
R6026:Pdzrn3 UTSW 6 101,339,105 (GRCm39) missense probably benign 0.40
R6213:Pdzrn3 UTSW 6 101,354,805 (GRCm39) missense probably damaging 1.00
R6518:Pdzrn3 UTSW 6 101,127,475 (GRCm39) makesense probably null
R6657:Pdzrn3 UTSW 6 101,127,983 (GRCm39) missense probably benign 0.15
R6951:Pdzrn3 UTSW 6 101,131,153 (GRCm39) critical splice donor site probably null
R7055:Pdzrn3 UTSW 6 101,128,735 (GRCm39) nonsense probably null
R7290:Pdzrn3 UTSW 6 101,128,206 (GRCm39) missense probably benign
R7608:Pdzrn3 UTSW 6 101,128,713 (GRCm39) missense probably damaging 1.00
R7834:Pdzrn3 UTSW 6 101,128,156 (GRCm39) missense probably damaging 0.97
R8199:Pdzrn3 UTSW 6 101,128,918 (GRCm39) missense probably damaging 1.00
R8338:Pdzrn3 UTSW 6 101,127,783 (GRCm39) missense probably benign 0.00
R8734:Pdzrn3 UTSW 6 101,128,567 (GRCm39) missense probably damaging 0.98
R8783:Pdzrn3 UTSW 6 101,132,841 (GRCm39) missense probably damaging 1.00
R9082:Pdzrn3 UTSW 6 101,146,094 (GRCm39) critical splice donor site probably null
R9378:Pdzrn3 UTSW 6 101,127,772 (GRCm39) missense probably damaging 1.00
R9499:Pdzrn3 UTSW 6 101,127,855 (GRCm39) missense probably damaging 1.00
R9542:Pdzrn3 UTSW 6 101,149,235 (GRCm39) missense probably benign 0.00
R9551:Pdzrn3 UTSW 6 101,127,855 (GRCm39) missense probably damaging 1.00
R9639:Pdzrn3 UTSW 6 101,146,172 (GRCm39) missense probably benign 0.00
R9743:Pdzrn3 UTSW 6 101,354,678 (GRCm39) missense probably damaging 1.00
Z1176:Pdzrn3 UTSW 6 101,128,960 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02