Incidental Mutation 'IGL03061:Pdzrn3'
ID409443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzrn3
Ensembl Gene ENSMUSG00000035357
Gene NamePDZ domain containing RING finger 3
SynonymsLNX3, semaphorin cytoplasmic domain-associated protein 3A, Semcap3, 1110020C07Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.718) question?
Stock #IGL03061
Quality Score
Status
Chromosome6
Chromosomal Location101149609-101377897 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 101151855 bp
ZygosityHeterozygous
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]
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: 46,508,337 N106K probably damaging Het
Ak8 T C 2: 28,742,755 probably benign Het
BC016579 C T 16: 45,629,486 G190S probably damaging Het
C4bp A G 1: 130,636,717 V410A probably damaging Het
Cacna2d3 T C 14: 29,058,431 T658A probably damaging Het
Cadps2 T C 6: 23,287,660 probably null Het
Car10 G T 11: 93,490,525 V105F probably damaging Het
Car15 C T 16: 17,835,385 C306Y possibly damaging Het
Casr C T 16: 36,495,888 A530T probably benign Het
Col5a3 A G 9: 20,797,572 probably null Het
Creld1 A G 6: 113,488,097 E95G probably damaging Het
Dcstamp T A 15: 39,760,397 D366E possibly damaging Het
Dnah11 T C 12: 117,903,121 Y4095C probably damaging Het
Eps8l2 A G 7: 141,357,235 probably benign Het
Gsn T C 2: 35,282,459 probably benign Het
Ifi27 T C 12: 103,435,544 V30A possibly damaging Het
Ifit1bl2 C T 19: 34,619,724 R164Q probably benign Het
Impg2 T C 16: 56,268,416 S1102P probably damaging Het
Kif24 G T 4: 41,394,323 P984Q possibly damaging Het
Krtap29-1 T A 11: 99,978,629 Q142L possibly damaging Het
Lpar6 C T 14: 73,239,070 T157I probably benign Het
Lrrc32 A T 7: 98,499,422 T470S probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mroh9 A T 1: 163,026,502 H776Q probably damaging Het
Myh7 T C 14: 54,991,204 probably benign Het
Myh7b A G 2: 155,620,111 N309S possibly damaging Het
Myo5b A T 18: 74,634,559 T313S probably benign Het
Myo5b G A 18: 74,580,544 probably benign Het
Npas4 C T 19: 4,986,337 V600M probably damaging Het
Nrxn3 T A 12: 89,511,928 Y557* probably null Het
Olfr169 T C 16: 19,566,713 T57A possibly damaging Het
Olfr552 A G 7: 102,604,739 I128M probably damaging Het
Olfr968 T A 9: 39,772,162 T213S probably benign Het
Pcdh15 A G 10: 74,317,011 I383V probably damaging Het
Prodh2 A T 7: 30,512,833 K408* probably null Het
Ptprs T C 17: 56,418,830 I1052V probably damaging Het
Rpl14 T C 9: 120,572,127 V12A probably damaging Het
Sf3a1 C T 11: 4,175,493 R428C probably damaging Het
Sgsm2 G T 11: 74,851,136 N1009K probably damaging Het
Slc28a2 A T 2: 122,454,499 I323F probably damaging Het
Snx19 T A 9: 30,433,632 F676I probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tg A C 15: 66,671,405 D56A probably damaging Het
Tln1 G T 4: 43,545,694 A928E probably damaging Het
Tmem94 T C 11: 115,792,421 S677P possibly damaging Het
Ttc41 C A 10: 86,736,857 H698N possibly damaging Het
Vcan T C 13: 89,703,275 T1189A probably benign Het
Vmn1r215 G T 13: 23,075,918 V43F probably damaging Het
Vmn2r28 A T 7: 5,484,016 N549K probably damaging Het
Zfp598 T C 17: 24,679,592 V455A probably benign Het
Other mutations in Pdzrn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Pdzrn3 APN 6 101354486 missense probably benign 0.01
IGL01511:Pdzrn3 APN 6 101153256 missense possibly damaging 0.66
IGL01554:Pdzrn3 APN 6 101150541 missense probably damaging 1.00
IGL02450:Pdzrn3 APN 6 101354500 missense probably damaging 1.00
IGL02505:Pdzrn3 APN 6 101151938 missense possibly damaging 0.94
IGL03210:Pdzrn3 APN 6 101156952 missense possibly damaging 0.95
gefilte UTSW 6 101154192 critical splice donor site probably null
implevit_bonis UTSW 6 101151022 missense probably benign 0.15
predisposition UTSW 6 101151053 missense probably damaging 1.00
tendency UTSW 6 101151428 missense probably damaging 1.00
PIT4581001:Pdzrn3 UTSW 6 101151503 missense probably benign 0.00
R0110:Pdzrn3 UTSW 6 101151053 missense probably damaging 1.00
R0469:Pdzrn3 UTSW 6 101151053 missense probably damaging 1.00
R0496:Pdzrn3 UTSW 6 101150570 missense possibly damaging 0.94
R0510:Pdzrn3 UTSW 6 101151053 missense probably damaging 1.00
R0883:Pdzrn3 UTSW 6 101155942 splice site probably null
R1171:Pdzrn3 UTSW 6 101150877 missense probably damaging 1.00
R1471:Pdzrn3 UTSW 6 101151512 missense possibly damaging 0.77
R1496:Pdzrn3 UTSW 6 101150969 missense probably benign 0.00
R1596:Pdzrn3 UTSW 6 101151005 missense probably benign 0.03
R2033:Pdzrn3 UTSW 6 101150954 missense probably damaging 1.00
R2068:Pdzrn3 UTSW 6 101150699 missense probably damaging 1.00
R2084:Pdzrn3 UTSW 6 101154295 missense probably benign 0.35
R2432:Pdzrn3 UTSW 6 101150791 missense probably damaging 1.00
R3727:Pdzrn3 UTSW 6 101156945 missense probably damaging 0.98
R3861:Pdzrn3 UTSW 6 101172371 missense possibly damaging 0.95
R4616:Pdzrn3 UTSW 6 101152009 missense probably damaging 0.99
R4967:Pdzrn3 UTSW 6 101151590 missense probably damaging 1.00
R5224:Pdzrn3 UTSW 6 101153311 missense probably damaging 1.00
R5226:Pdzrn3 UTSW 6 101153311 missense probably damaging 1.00
R5227:Pdzrn3 UTSW 6 101153311 missense probably damaging 1.00
R5230:Pdzrn3 UTSW 6 101153311 missense probably damaging 1.00
R5320:Pdzrn3 UTSW 6 101151103 missense probably damaging 1.00
R5414:Pdzrn3 UTSW 6 101153311 missense probably damaging 1.00
R5686:Pdzrn3 UTSW 6 101151428 missense probably damaging 1.00
R5772:Pdzrn3 UTSW 6 101172314 missense probably benign 0.00
R6026:Pdzrn3 UTSW 6 101362144 missense probably benign 0.40
R6213:Pdzrn3 UTSW 6 101377844 missense probably damaging 1.00
R6518:Pdzrn3 UTSW 6 101150514 makesense probably null
R6657:Pdzrn3 UTSW 6 101151022 missense probably benign 0.15
R6951:Pdzrn3 UTSW 6 101154192 critical splice donor site probably null
R7055:Pdzrn3 UTSW 6 101151774 nonsense probably null
R7290:Pdzrn3 UTSW 6 101151245 missense probably benign
R7608:Pdzrn3 UTSW 6 101151752 missense probably damaging 1.00
R7834:Pdzrn3 UTSW 6 101151195 missense probably damaging 0.97
R8199:Pdzrn3 UTSW 6 101151957 missense probably damaging 1.00
R8338:Pdzrn3 UTSW 6 101150822 missense probably benign 0.00
R8734:Pdzrn3 UTSW 6 101151606 missense probably damaging 0.98
Z1176:Pdzrn3 UTSW 6 101151999 missense probably damaging 1.00
Posted On2016-08-02