Incidental Mutation 'PIT4581001:Pdzrn3'
ID 556501
Institutional Source Beutler Lab
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 # PIT4581001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 101126570-101354858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101128464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 734 (V734A)
Ref Sequence ENSEMBL: ENSMUSP00000075376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075994]
AlphaFold Q69ZS0
Predicted Effect probably benign
Transcript: ENSMUST00000075994
AA Change: V734A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: V734A

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
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.6%
  • 10x: 84.5%
  • 20x: 71.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,251,139 (GRCm39) H522R probably benign Het
Adcy8 A T 15: 64,626,666 (GRCm39) I724N probably damaging Het
Cdk2ap1rt A G 11: 48,716,971 (GRCm39) I69T possibly damaging Het
Cstdc6 T C 16: 36,143,294 (GRCm39) I52V probably benign Het
Ctsj A T 13: 61,150,370 (GRCm39) C210S probably damaging Het
Cyp2d12 A G 15: 82,442,652 (GRCm39) E365G probably damaging Het
Dbi A T 1: 120,047,642 (GRCm39) V85E probably damaging Het
Dhrs7b A G 11: 60,742,723 (GRCm39) I153M possibly damaging Het
Dock10 C A 1: 80,483,163 (GRCm39) C2096F probably damaging Het
Eid3 T A 10: 82,703,589 (GRCm39) I350K probably damaging Het
Fam83b A T 9: 76,398,434 (GRCm39) F890I probably damaging Het
Fras1 G A 5: 96,703,160 (GRCm39) D308N probably benign Het
Ftsj3 T C 11: 106,140,302 (GRCm39) D822G unknown Het
Gabra5 T C 7: 57,138,605 (GRCm39) T148A probably damaging Het
Gad1 A G 2: 70,430,011 (GRCm39) D526G probably benign Het
Gm21698 T A 5: 26,192,350 (GRCm39) T79S probably benign Het
Gon4l T G 3: 88,802,821 (GRCm39) V1144G probably damaging Het
Ighv1-24 A T 12: 114,736,803 (GRCm39) N32K probably benign Het
Islr T C 9: 58,064,484 (GRCm39) N341S possibly damaging Het
Mybph A G 1: 134,122,479 (GRCm39) T175A probably benign Het
Mycn T C 12: 12,990,244 (GRCm39) K51E possibly damaging Het
Myh14 T C 7: 44,262,906 (GRCm39) N1763D probably benign Het
Myrip T C 9: 120,296,583 (GRCm39) S831P probably damaging Het
Neb G T 2: 52,178,814 (GRCm39) A1314E probably damaging Het
Notch2 T C 3: 98,011,778 (GRCm39) Y599H probably damaging Het
Npr1 C A 3: 90,369,564 (GRCm39) G387V probably damaging Het
Or6e1 T A 14: 54,519,995 (GRCm39) D119V probably damaging Het
Orai2 G A 5: 136,179,364 (GRCm39) T223M probably damaging Het
Pcdhga5 A G 18: 37,829,910 (GRCm39) E786G probably benign Het
Pde6b A G 5: 108,576,374 (GRCm39) T749A probably benign Het
Pkd1l1 GCC GCCC 11: 8,866,298 (GRCm39) probably null Het
Recql5 C A 11: 115,823,682 (GRCm39) K21N possibly damaging Het
Rimbp3 G A 16: 17,028,580 (GRCm39) S668N possibly damaging Het
Sdr42e1 A T 8: 118,390,257 (GRCm39) I128N probably damaging Het
Shprh TAAAA T 10: 11,068,238 (GRCm39) probably null Het
Slc15a2 A T 16: 36,592,405 (GRCm39) C251S probably benign Het
Slc17a4 A T 13: 24,086,001 (GRCm39) S329T probably damaging Het
Slc35a1 A G 4: 34,669,501 (GRCm39) V246A possibly damaging Het
Slc37a2 A T 9: 37,148,701 (GRCm39) S260R probably benign Het
Slco6d1 A T 1: 98,351,050 (GRCm39) I177L possibly damaging Het
Tmcc1 A G 6: 116,020,417 (GRCm39) V345A Het
Tmod2 T C 9: 75,504,583 (GRCm39) Y12C probably damaging Het
Top2a A T 11: 98,893,790 (GRCm39) W1035R probably damaging Het
Trpc1 A G 9: 95,618,974 (GRCm39) S126P probably benign Het
Ttn A G 2: 76,564,305 (GRCm39) S28576P probably damaging Het
Vmn1r16 A T 6: 57,299,858 (GRCm39) W255R probably benign Het
Vmn2r5 T A 3: 64,411,348 (GRCm39) K407* probably null Het
Vps13b G T 15: 35,534,409 (GRCm39) W908C probably damaging Het
Ykt6 A G 11: 5,912,747 (GRCm39) K150E possibly damaging Het
Zbtb2 A G 10: 4,319,265 (GRCm39) Y254H possibly damaging Het
Zfp217 A G 2: 169,956,503 (GRCm39) S832P probably benign Het
Zfp595 A G 13: 67,465,949 (GRCm39) S108P probably benign Het
Zfp786 A T 6: 47,796,756 (GRCm39) F727L probably damaging Het
Zzef1 G A 11: 72,790,498 (GRCm39) V2151I 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
IGL03061:Pdzrn3 APN 6 101,128,816 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATGTTAGCTGTGGCCCCTTC -3'
(R):5'- ACAGCCTGTACTACCCTAGCAG -3'

Sequencing Primer
(F):5'- AGCTGTGGCCCCTTCACTAC -3'
(R):5'- TGCTGGCAAGAGTGACCC -3'
Posted On 2019-06-07