Incidental Mutation 'IGL02237:Pdzd7'
ID 285922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzd7
Ensembl Gene ENSMUSG00000074818
Gene Name PDZ domain containing 7
Synonyms EG435601, Pdzk7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # IGL02237
Quality Score
Status
Chromosome 19
Chromosomal Location 45015345-45034156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45028697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 149 (A149T)
Ref Sequence ENSEMBL: ENSMUSP00000133273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000145391] [ENSMUST00000169459]
AlphaFold E9Q9W7
Predicted Effect probably damaging
Transcript: ENSMUST00000145391
AA Change: A149T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: A149T

DomainStartEndE-ValueType
low complexity region 12 35 N/A INTRINSIC
PDZ 95 167 3.51e-19 SMART
PDZ 220 292 2.47e-14 SMART
low complexity region 319 344 N/A INTRINSIC
low complexity region 442 459 N/A INTRINSIC
low complexity region 521 533 N/A INTRINSIC
low complexity region 724 744 N/A INTRINSIC
low complexity region 768 809 N/A INTRINSIC
low complexity region 812 824 N/A INTRINSIC
PDZ 866 947 1.96e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169459
AA Change: A149T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: A149T

DomainStartEndE-ValueType
low complexity region 12 35 N/A INTRINSIC
PDZ 95 167 3.51e-19 SMART
PDZ 220 292 2.47e-14 SMART
low complexity region 319 344 N/A INTRINSIC
low complexity region 442 459 N/A INTRINSIC
low complexity region 521 533 N/A INTRINSIC
low complexity region 724 744 N/A INTRINSIC
low complexity region 768 809 N/A INTRINSIC
low complexity region 812 824 N/A INTRINSIC
PDZ 866 947 1.96e-8 SMART
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 ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T A 2: 181,135,350 (GRCm39) V84E probably benign Het
Adam39 A T 8: 41,278,482 (GRCm39) E291V probably benign Het
Ak5 T A 3: 152,204,980 (GRCm39) D372V probably benign Het
Brpf1 C T 6: 113,287,336 (GRCm39) P188L probably damaging Het
Cacna2d3 C T 14: 29,068,954 (GRCm39) V258I probably benign Het
Cd14 A G 18: 36,858,912 (GRCm39) F181S probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cts6 A T 13: 61,345,313 (GRCm39) D261E probably benign Het
Daam1 A G 12: 72,029,495 (GRCm39) T897A probably benign Het
Ddx25 T A 9: 35,453,365 (GRCm39) probably benign Het
Ddx55 A G 5: 124,705,958 (GRCm39) E461G probably damaging Het
Degs1 T C 1: 182,107,253 (GRCm39) K2R probably damaging Het
Drc7 C T 8: 95,799,507 (GRCm39) L561F probably damaging Het
Eif4enif1 A T 11: 3,177,876 (GRCm39) K423* probably null Het
Epha7 A G 4: 28,949,325 (GRCm39) probably null Het
Erich5 A C 15: 34,471,482 (GRCm39) E237A probably benign Het
Ficd A G 5: 113,876,373 (GRCm39) T183A probably damaging Het
Foxb2 T C 19: 16,850,908 (GRCm39) M33V unknown Het
Gja8 T G 3: 96,827,249 (GRCm39) S138R probably benign Het
Gm28042 T G 2: 119,870,380 (GRCm39) L743V possibly damaging Het
Gtf3c2 A T 5: 31,316,397 (GRCm39) probably benign Het
Itga11 T C 9: 62,663,057 (GRCm39) probably null Het
Kazn A T 4: 141,874,410 (GRCm39) D315E probably benign Het
Kbtbd2 A T 6: 56,756,033 (GRCm39) S568T possibly damaging Het
Man1c1 A C 4: 134,311,609 (GRCm39) probably null Het
Myh9 A G 15: 77,670,854 (GRCm39) S463P probably benign Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Oog2 T A 4: 143,923,016 (GRCm39) F427Y possibly damaging Het
Pcmtd1 T C 1: 7,233,601 (GRCm39) probably null Het
Pcnt C A 10: 76,188,818 (GRCm39) D2861Y probably damaging Het
Pebp4 A T 14: 70,297,105 (GRCm39) T215S possibly damaging Het
Pgm1 T C 4: 99,820,707 (GRCm39) probably benign Het
Plekhh2 T A 17: 84,883,213 (GRCm39) D760E probably benign Het
Pomt1 T C 2: 32,135,689 (GRCm39) I351T probably benign Het
Ptpn21 C T 12: 98,671,351 (GRCm39) probably null Het
Rsad2 T G 12: 26,506,186 (GRCm39) Y78S probably damaging Het
Rsbn1l A T 5: 21,124,604 (GRCm39) N399K probably benign Het
Sec31a A G 5: 100,509,914 (GRCm39) V1191A probably damaging Het
Sema6c C T 3: 95,077,430 (GRCm39) P414L probably damaging Het
Serpinb5 T C 1: 106,808,056 (GRCm39) S69P probably benign Het
Slc25a13 C T 6: 6,042,646 (GRCm39) R586H probably damaging Het
Spink5 T A 18: 44,145,934 (GRCm39) M776K probably benign Het
Srcap A G 7: 127,133,864 (GRCm39) probably benign Het
Stt3a G A 9: 36,660,933 (GRCm39) Q293* probably null Het
Syne4 T A 7: 30,015,988 (GRCm39) probably null Het
Tomm40l C T 1: 171,048,463 (GRCm39) V97M possibly damaging Het
Trpc4 C T 3: 54,129,783 (GRCm39) S183F probably damaging Het
Ttn C T 2: 76,716,478 (GRCm39) probably benign Het
Ufl1 A C 4: 25,269,082 (GRCm39) S170A probably benign Het
Vmn2r66 G A 7: 84,643,908 (GRCm39) T834I probably benign Het
Vmn2r75 A G 7: 85,814,786 (GRCm39) S236P possibly damaging Het
Zfp345 A T 2: 150,316,805 (GRCm39) probably benign Het
Zfp955b T C 17: 33,520,893 (GRCm39) S121P probably damaging Het
Other mutations in Pdzd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02729:Pdzd7 APN 19 45,034,082 (GRCm39) start codon destroyed probably null 0.89
F6893:Pdzd7 UTSW 19 45,025,173 (GRCm39) missense probably damaging 0.98
R0211:Pdzd7 UTSW 19 45,022,106 (GRCm39) missense possibly damaging 0.72
R0211:Pdzd7 UTSW 19 45,022,106 (GRCm39) missense possibly damaging 0.72
R0295:Pdzd7 UTSW 19 45,025,511 (GRCm39) missense probably benign 0.01
R0523:Pdzd7 UTSW 19 45,024,529 (GRCm39) missense probably benign 0.01
R0645:Pdzd7 UTSW 19 45,033,914 (GRCm39) missense possibly damaging 0.95
R0731:Pdzd7 UTSW 19 45,017,744 (GRCm39) missense probably damaging 1.00
R1265:Pdzd7 UTSW 19 45,029,124 (GRCm39) missense possibly damaging 0.64
R1711:Pdzd7 UTSW 19 45,033,950 (GRCm39) missense possibly damaging 0.68
R1789:Pdzd7 UTSW 19 45,027,667 (GRCm39) missense probably damaging 1.00
R1817:Pdzd7 UTSW 19 45,024,615 (GRCm39) missense probably damaging 0.98
R2162:Pdzd7 UTSW 19 45,024,494 (GRCm39) critical splice donor site probably null
R2851:Pdzd7 UTSW 19 45,016,113 (GRCm39) missense probably benign
R2852:Pdzd7 UTSW 19 45,016,113 (GRCm39) missense probably benign
R2939:Pdzd7 UTSW 19 45,033,862 (GRCm39) missense possibly damaging 0.89
R3832:Pdzd7 UTSW 19 45,028,693 (GRCm39) missense probably damaging 1.00
R3874:Pdzd7 UTSW 19 45,034,067 (GRCm39) missense probably benign
R4416:Pdzd7 UTSW 19 45,029,019 (GRCm39) missense probably damaging 1.00
R4668:Pdzd7 UTSW 19 45,034,126 (GRCm39) start gained probably benign
R5133:Pdzd7 UTSW 19 45,016,868 (GRCm39) missense possibly damaging 0.51
R5327:Pdzd7 UTSW 19 45,017,216 (GRCm39) missense probably benign
R5458:Pdzd7 UTSW 19 45,016,230 (GRCm39) missense probably benign
R5480:Pdzd7 UTSW 19 45,027,724 (GRCm39) missense possibly damaging 0.65
R5644:Pdzd7 UTSW 19 45,028,619 (GRCm39) missense probably benign 0.16
R5799:Pdzd7 UTSW 19 45,025,428 (GRCm39) missense probably benign 0.06
R5812:Pdzd7 UTSW 19 45,025,310 (GRCm39) missense probably damaging 1.00
R5873:Pdzd7 UTSW 19 45,016,388 (GRCm39) missense probably damaging 1.00
R6669:Pdzd7 UTSW 19 45,025,190 (GRCm39) missense possibly damaging 0.94
R6750:Pdzd7 UTSW 19 45,016,187 (GRCm39) missense probably benign
R7128:Pdzd7 UTSW 19 45,016,388 (GRCm39) missense probably damaging 0.99
R7183:Pdzd7 UTSW 19 45,025,553 (GRCm39) missense probably benign
R7378:Pdzd7 UTSW 19 45,034,045 (GRCm39) missense probably damaging 0.99
R7395:Pdzd7 UTSW 19 45,025,450 (GRCm39) missense probably damaging 1.00
R7426:Pdzd7 UTSW 19 45,022,086 (GRCm39) missense possibly damaging 0.68
R7790:Pdzd7 UTSW 19 45,033,962 (GRCm39) nonsense probably null
R7792:Pdzd7 UTSW 19 45,028,657 (GRCm39) missense possibly damaging 0.54
R7829:Pdzd7 UTSW 19 45,027,678 (GRCm39) missense probably benign 0.00
R7883:Pdzd7 UTSW 19 45,018,679 (GRCm39) missense probably damaging 1.00
R7969:Pdzd7 UTSW 19 45,024,664 (GRCm39) missense probably benign 0.01
R8387:Pdzd7 UTSW 19 45,018,490 (GRCm39) missense probably damaging 1.00
R8720:Pdzd7 UTSW 19 45,024,667 (GRCm39) missense probably benign 0.27
R8830:Pdzd7 UTSW 19 45,021,512 (GRCm39) missense probably damaging 1.00
R9282:Pdzd7 UTSW 19 45,028,622 (GRCm39) missense probably damaging 0.96
R9417:Pdzd7 UTSW 19 45,034,022 (GRCm39) missense probably damaging 1.00
R9453:Pdzd7 UTSW 19 45,016,056 (GRCm39) makesense probably null
Posted On 2015-04-16