Incidental Mutation 'R0645:Pdzd7'
ID 57108
Institutional Source Beutler Lab
Gene Symbol Pdzd7
Ensembl Gene ENSMUSG00000074818
Gene Name PDZ domain containing 7
Synonyms EG435601, Pdzk7
MMRRC Submission 038830-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R0645 (G1)
Quality Score 192
Status Validated
Chromosome 19
Chromosomal Location 45015345-45034156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45033914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 57 (G57R)
Ref Sequence ENSEMBL: ENSMUSP00000133273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062213] [ENSMUST00000084493] [ENSMUST00000111954] [ENSMUST00000145391] [ENSMUST00000169459]
AlphaFold E9Q9W7
Predicted Effect probably benign
Transcript: ENSMUST00000062213
SMART Domains Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212

DomainStartEndE-ValueType
Pfam:Mtc 15 321 1.8e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084493
SMART Domains Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212

DomainStartEndE-ValueType
Pfam:Mtc 15 230 2.5e-106 PFAM
Pfam:Mtc 225 280 2.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111954
SMART Domains Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212

DomainStartEndE-ValueType
Pfam:Mtc 15 114 1.4e-48 PFAM
Pfam:Mtc 110 288 2.3e-78 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145391
AA Change: G57R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: G57R

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 possibly damaging
Transcript: ENSMUST00000169459
AA Change: G57R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: G57R

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
Meta Mutation Damage Score 0.0874 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 G T 8: 25,162,136 (GRCm39) Y46* probably null Het
Adam26b A C 8: 43,973,524 (GRCm39) C493G probably damaging Het
Ak5 A T 3: 152,359,252 (GRCm39) L182Q probably damaging Het
Akt1s1 T C 7: 44,498,645 (GRCm39) probably benign Het
Amhr2 G T 15: 102,354,863 (GRCm39) G133C probably damaging Het
Btbd9 A T 17: 30,743,941 (GRCm39) L187Q probably damaging Het
Ccdc117 A T 11: 5,484,385 (GRCm39) probably benign Het
Ccdc138 A T 10: 58,411,542 (GRCm39) I637F probably damaging Het
Ccdc162 A G 10: 41,462,407 (GRCm39) probably benign Het
Cdc25b C A 2: 131,033,533 (GRCm39) H157Q probably benign Het
Cdon A G 9: 35,388,379 (GRCm39) probably null Het
Cdt1 G A 8: 123,298,884 (GRCm39) probably benign Het
Cep350 C T 1: 155,816,458 (GRCm39) probably null Het
Cfb T C 17: 35,078,992 (GRCm39) K831R probably benign Het
Cldn4 C A 5: 134,975,645 (GRCm39) probably benign Het
Cntnap5b T C 1: 99,999,767 (GRCm39) probably benign Het
Cyp27b1 T G 10: 126,884,967 (GRCm39) S77A probably benign Het
Dlc1 T C 8: 37,041,203 (GRCm39) D1342G possibly damaging Het
Dlgap4 A G 2: 156,603,799 (GRCm39) H887R probably damaging Het
Duox2 A G 2: 122,123,139 (GRCm39) I503T probably damaging Het
Eml4 T C 17: 83,770,922 (GRCm39) probably benign Het
Ermap A G 4: 119,042,888 (GRCm39) S212P probably benign Het
Esrrg T A 1: 187,775,538 (GRCm39) C22S probably benign Het
Evx2 T A 2: 74,488,238 (GRCm39) Y194F possibly damaging Het
Fbn2 T G 18: 58,191,461 (GRCm39) D1554A probably damaging Het
Flrt1 G A 19: 7,074,508 (GRCm39) probably benign Het
Fndc5 A G 4: 129,033,630 (GRCm39) probably benign Het
Frem1 A T 4: 82,907,403 (GRCm39) I837N probably damaging Het
Fzd10 G T 5: 128,679,662 (GRCm39) A461S possibly damaging Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gbp7 A G 3: 142,243,926 (GRCm39) probably null Het
Gm5919 T A 9: 83,765,436 (GRCm39) C91S unknown Het
Gpr31b A T 17: 13,271,093 (GRCm39) C25* probably null Het
Grb10 A G 11: 11,886,755 (GRCm39) S505P probably damaging Het
Grm4 A T 17: 27,654,183 (GRCm39) V542E probably damaging Het
Gsta5 T C 9: 78,206,303 (GRCm39) I75T possibly damaging Het
Hivep3 G A 4: 119,954,531 (GRCm39) R949H possibly damaging Het
Hycc1 C T 5: 24,184,506 (GRCm39) G242D probably damaging Het
Invs A T 4: 48,407,653 (GRCm39) M543L probably benign Het
Kcnk2 T C 1: 188,988,927 (GRCm39) probably null Het
Kdm6b A T 11: 69,295,844 (GRCm39) S808T unknown Het
Klhl30 C T 1: 91,283,228 (GRCm39) R277W probably damaging Het
Lama1 A G 17: 68,080,707 (GRCm39) Q1245R probably benign Het
Lingo3 G T 10: 80,671,169 (GRCm39) H254N probably benign Het
Lzts1 A T 8: 69,588,392 (GRCm39) H521Q possibly damaging Het
Map3k19 A C 1: 127,749,919 (GRCm39) I1144S possibly damaging Het
Mast2 A G 4: 116,165,184 (GRCm39) S1411P probably damaging Het
Mast2 T C 4: 116,170,043 (GRCm39) probably benign Het
Mesp1 G T 7: 79,442,328 (GRCm39) S225R possibly damaging Het
Micu1 A G 10: 59,675,503 (GRCm39) T366A possibly damaging Het
Mideas G T 12: 84,205,077 (GRCm39) N834K possibly damaging Het
Mknk2 T C 10: 80,507,742 (GRCm39) probably null Het
Msh5 A G 17: 35,258,199 (GRCm39) L309P probably damaging Het
Myo7b T C 18: 32,127,962 (GRCm39) I577V probably benign Het
Myom2 T A 8: 15,167,698 (GRCm39) D1094E probably damaging Het
Nedd1 T C 10: 92,527,693 (GRCm39) probably null Het
Neu4 T C 1: 93,950,191 (GRCm39) L50S probably damaging Het
Noa1 T C 5: 77,457,722 (GRCm39) Y61C probably benign Het
Nr1h4 A T 10: 89,342,390 (GRCm39) M30K probably benign Het
Nsd3 A G 8: 26,199,096 (GRCm39) I1219V probably benign Het
Nup188 T A 2: 30,233,478 (GRCm39) probably null Het
Or10ag2 T A 2: 87,248,612 (GRCm39) Y71* probably null Het
Or5al5 A G 2: 85,961,378 (GRCm39) S210P probably damaging Het
Or6c208 T A 10: 129,224,162 (GRCm39) I220N possibly damaging Het
Or6k2 A T 1: 173,986,920 (GRCm39) T194S probably benign Het
Pbk G A 14: 66,051,245 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,487,459 (GRCm39) T1848M possibly damaging Het
Pik3r4 C A 9: 105,546,386 (GRCm39) probably benign Het
Plce1 A G 19: 38,766,433 (GRCm39) S2153G probably damaging Het
Potefam1 C T 2: 111,044,928 (GRCm39) probably null Het
Pphln1 G A 15: 93,318,192 (GRCm39) V34M possibly damaging Het
Prrc2a T C 17: 35,375,308 (GRCm39) D1114G probably damaging Het
Prss16 T C 13: 22,193,546 (GRCm39) probably benign Het
Rtp3 T C 9: 110,816,168 (GRCm39) K128E probably damaging Het
Scn3a T A 2: 65,355,194 (GRCm39) I241F possibly damaging Het
Setd1a G A 7: 127,386,382 (GRCm39) V336I probably damaging Het
Sfpq A G 4: 126,916,762 (GRCm39) I320V possibly damaging Het
Skint5 A T 4: 113,620,679 (GRCm39) D678E unknown Het
Slc12a9 G A 5: 137,313,638 (GRCm39) P774S probably benign Het
Slc25a54 C G 3: 109,019,481 (GRCm39) L362V possibly damaging Het
Smarcd1 A G 15: 99,605,267 (GRCm39) probably null Het
Spata31e5 T A 1: 28,816,011 (GRCm39) N674Y probably damaging Het
Suco A T 1: 161,661,683 (GRCm39) M916K probably damaging Het
Tiam2 T C 17: 3,564,973 (GRCm39) S1404P possibly damaging Het
Topors T C 4: 40,260,333 (GRCm39) T984A unknown Het
Trabd2b A T 4: 114,443,767 (GRCm39) K308M probably damaging Het
Trmo A T 4: 46,377,083 (GRCm39) probably benign Het
Trpc3 A T 3: 36,725,654 (GRCm39) D107E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uggt2 A C 14: 119,295,010 (GRCm39) Y539D probably benign Het
Wwc2 T G 8: 48,353,674 (GRCm39) probably benign Het
Zdbf2 T A 1: 63,344,109 (GRCm39) D829E possibly damaging Het
Other mutations in Pdzd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Pdzd7 APN 19 45,028,697 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCCACATTCTGAAGCCTGGACAC -3'
(R):5'- TGCCCTAGTCTCACTACTATGGCAC -3'

Sequencing Primer
(F):5'- CACGTATAAGGGCTTTCCTTAGAC -3'
(R):5'- ACGTGGTTTCACGGTAGGC -3'
Posted On 2013-07-11