Incidental Mutation 'R5873:Pdzd7'
ID 455352
Institutional Source Beutler Lab
Gene Symbol Pdzd7
Ensembl Gene ENSMUSG00000074818
Gene Name PDZ domain containing 7
Synonyms EG435601, Pdzk7
MMRRC Submission 044080-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R5873 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 45015345-45034156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45016388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 911 (D911V)
Ref Sequence ENSEMBL: ENSMUSP00000133273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039016] [ENSMUST00000145391] [ENSMUST00000169459] [ENSMUST00000178087] [ENSMUST00000179108]
AlphaFold E9Q9W7
Predicted Effect noncoding transcript
Transcript: ENSMUST00000038901
Predicted Effect probably benign
Transcript: ENSMUST00000039016
SMART Domains Protein: ENSMUSP00000045478
Gene: ENSMUSG00000035342

DomainStartEndE-ValueType
low complexity region 99 105 N/A INTRINSIC
low complexity region 187 199 N/A INTRINSIC
low complexity region 242 265 N/A INTRINSIC
low complexity region 267 321 N/A INTRINSIC
low complexity region 375 407 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
Pfam:Fez1 441 639 4.2e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145391
AA Change: D911V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: D911V

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: D911V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: D911V

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 benign
Transcript: ENSMUST00000178087
SMART Domains Protein: ENSMUSP00000136405
Gene: ENSMUSG00000035342

DomainStartEndE-ValueType
low complexity region 99 105 N/A INTRINSIC
low complexity region 187 199 N/A INTRINSIC
low complexity region 242 265 N/A INTRINSIC
low complexity region 267 321 N/A INTRINSIC
low complexity region 375 407 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
Pfam:Fez1 441 638 2.2e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179108
SMART Domains Protein: ENSMUSP00000137571
Gene: ENSMUSG00000035342

DomainStartEndE-ValueType
low complexity region 99 105 N/A INTRINSIC
low complexity region 187 199 N/A INTRINSIC
low complexity region 242 265 N/A INTRINSIC
low complexity region 267 321 N/A INTRINSIC
low complexity region 375 407 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
Pfam:Fez1 441 639 4.2e-82 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,630,167 (GRCm39) probably null Het
4930505A04Rik T A 11: 30,376,220 (GRCm39) K216* probably null Het
5330417H12Rik T C 7: 107,223,975 (GRCm39) probably benign Het
Abcc4 G T 14: 118,763,702 (GRCm39) D1044E probably benign Het
Adgre4 A G 17: 56,159,282 (GRCm39) T656A probably benign Het
Ankk1 T C 9: 49,327,196 (GRCm39) N661S probably benign Het
Asah2 A G 19: 31,981,082 (GRCm39) probably null Het
Asxl3 A G 18: 22,649,142 (GRCm39) D377G probably benign Het
C3ar1 A G 6: 122,827,381 (GRCm39) S279P probably benign Het
C7 A G 15: 5,034,717 (GRCm39) V610A probably damaging Het
Cacna2d3 C A 14: 29,442,891 (GRCm39) A48S probably benign Het
Card11 T A 5: 140,894,393 (GRCm39) I79F probably damaging Het
Casc3 A G 11: 98,712,270 (GRCm39) Y103C unknown Het
Cass4 G T 2: 172,268,688 (GRCm39) V259L probably benign Het
Col14a1 A G 15: 55,309,182 (GRCm39) probably benign Het
Cox10 A G 11: 63,962,512 (GRCm39) S110P probably benign Het
Cpt1b T C 15: 89,304,931 (GRCm39) Y439C probably damaging Het
Crybb2 C T 5: 113,213,759 (GRCm39) probably null Het
Cyp2b23 C T 7: 26,374,431 (GRCm39) R271H probably benign Het
Dnah17 T C 11: 117,947,723 (GRCm39) I3039V probably benign Het
Dnpep T C 1: 75,291,787 (GRCm39) D242G probably damaging Het
Dock10 T A 1: 80,551,855 (GRCm39) N660I probably damaging Het
Esco2 T C 14: 66,061,640 (GRCm39) D471G probably benign Het
Evpl A T 11: 116,125,258 (GRCm39) L97H probably damaging Het
Exoc3l4 A T 12: 111,389,850 (GRCm39) I142F probably damaging Het
Fry C A 5: 150,302,350 (GRCm39) P519Q probably damaging Het
Gal3st2 T A 1: 93,801,472 (GRCm39) F92I probably benign Het
Galm A G 17: 80,445,532 (GRCm39) E94G probably benign Het
Gfy T G 7: 44,827,004 (GRCm39) H364P probably damaging Het
Helz2 A G 2: 180,875,821 (GRCm39) S1558P possibly damaging Het
Hmmr T A 11: 40,598,527 (GRCm39) Q600L probably damaging Het
Hnrnph3 A G 10: 62,855,170 (GRCm39) probably null Het
Igkv4-90 T A 6: 68,784,453 (GRCm39) N21I probably benign Het
Kpna1 A G 16: 35,834,598 (GRCm39) probably benign Het
Krt28 A C 11: 99,257,716 (GRCm39) L375R probably damaging Het
Lrrn1 T C 6: 107,545,936 (GRCm39) V578A probably damaging Het
Lta4h T C 10: 93,305,052 (GRCm39) probably null Het
Matk T A 10: 81,095,963 (GRCm39) V166E probably benign Het
Muc4 C A 16: 32,570,113 (GRCm39) T391K possibly damaging Het
Mybl1 T A 1: 9,755,890 (GRCm39) T220S possibly damaging Het
Nrp1 T C 8: 129,194,858 (GRCm39) V438A probably damaging Het
Or2y6 A T 11: 52,104,180 (GRCm39) L212Q probably damaging Het
Or6p1 T A 1: 174,258,348 (GRCm39) M118K possibly damaging Het
Pdia4 A T 6: 47,785,110 (GRCm39) W86R probably damaging Het
Pkd1 A G 17: 24,788,804 (GRCm39) Q854R probably benign Het
Ppl A G 16: 4,923,913 (GRCm39) probably null Het
Ppp1r26 A G 2: 28,341,617 (GRCm39) T416A probably benign Het
Prdm15 T C 16: 97,609,889 (GRCm39) D585G probably damaging Het
Rbak A G 5: 143,159,466 (GRCm39) V529A probably benign Het
Rc3h1 C T 1: 160,787,071 (GRCm39) T822I probably damaging Het
Slc25a18 A T 6: 120,763,242 (GRCm39) probably null Het
Taf2 T C 15: 54,901,818 (GRCm39) N792S probably benign Het
Tat T C 8: 110,718,581 (GRCm39) probably null Het
Tbx21 A T 11: 97,005,474 (GRCm39) probably null Het
Txndc11 A G 16: 10,893,069 (GRCm39) L887P probably damaging Het
Usp10 A G 8: 120,673,831 (GRCm39) T399A possibly damaging Het
Vmn2r26 A T 6: 124,038,633 (GRCm39) H736L probably benign Het
Vstm2a T A 11: 16,208,044 (GRCm39) F13I probably damaging Het
Zkscan5 A G 5: 145,157,204 (GRCm39) R496G possibly damaging Het
Zranb2 C T 3: 157,242,020 (GRCm39) R36* probably null 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
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
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'- CATCATCAACAGGTCCAAGGGC -3'
(R):5'- AAAGGGCCATTGTCTGTGCC -3'

Sequencing Primer
(F):5'- TCCAAGGGCGGAGGGAC -3'
(R):5'- TGCCCCCAACAGCTGCAG -3'
Posted On 2017-02-10