Incidental Mutation 'R4130:Pdzd9'
ID 315506
Institutional Source Beutler Lab
Gene Symbol Pdzd9
Ensembl Gene ENSMUSG00000030887
Gene Name PDZ domain containing 9
Synonyms 4930408O21Rik
MMRRC Submission 041636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R4130 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 120257954-120269566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120262092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 123 (D123E)
Ref Sequence ENSEMBL: ENSMUSP00000033178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033176] [ENSMUST00000033178] [ENSMUST00000127845] [ENSMUST00000208635]
AlphaFold Q9D9M4
PDB Structure The solution structure of RSGI RUH-020, a PDZ domain of hypothetical protein from mouse [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000033176
SMART Domains Protein: ENSMUSP00000033176
Gene: ENSMUSG00000030884

DomainStartEndE-ValueType
Pfam:Peptidase_M16 48 194 3.2e-33 PFAM
Pfam:Peptidase_M16_C 199 378 2.2e-26 PFAM
low complexity region 417 430 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000033178
AA Change: D123E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033178
Gene: ENSMUSG00000030887
AA Change: D123E

DomainStartEndE-ValueType
PDZ 38 111 2.97e-8 SMART
low complexity region 231 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127845
Predicted Effect probably benign
Transcript: ENSMUST00000208635
Meta Mutation Damage Score 0.1210 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik T C 10: 21,301,441 (GRCm39) noncoding transcript Het
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Bbx T C 16: 50,045,221 (GRCm39) K447E probably damaging Het
Bcar1 A G 8: 112,440,797 (GRCm39) L399P possibly damaging Het
Cytl1 T C 5: 37,892,985 (GRCm39) S32P probably damaging Het
Eif4e1b C T 13: 54,935,130 (GRCm39) T219M probably benign Het
F10 A G 8: 13,105,584 (GRCm39) D383G possibly damaging Het
Gm37267 T G 1: 180,336,643 (GRCm39) noncoding transcript Het
Golga2 G A 2: 32,178,178 (GRCm39) R29H probably benign Het
Gpd1 A T 15: 99,617,158 (GRCm39) probably null Het
Lrrk2 G A 15: 91,639,997 (GRCm39) R1514Q probably benign Het
Map1b T C 13: 99,568,188 (GRCm39) E1511G unknown Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or13n4 C T 7: 106,422,792 (GRCm39) G314S probably benign Het
Pramel29 T A 4: 143,935,379 (GRCm39) I121F probably damaging Het
Rab3gap2 A G 1: 184,936,494 (GRCm39) D19G possibly damaging Het
Rnf213 T C 11: 119,373,832 (GRCm39) S4972P probably damaging Het
Skap1 A G 11: 96,416,871 (GRCm39) Y52C probably damaging Het
Sphkap T C 1: 83,255,619 (GRCm39) N710S probably damaging Het
Tedc1 T A 12: 113,126,828 (GRCm39) D363E probably benign Het
Vmn2r44 T A 7: 8,370,918 (GRCm39) Q709H probably damaging Het
Wdr5 G T 2: 27,410,441 (GRCm39) probably benign Het
Other mutations in Pdzd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Pdzd9 APN 7 120,259,494 (GRCm39) missense possibly damaging 0.92
IGL01295:Pdzd9 APN 7 120,267,618 (GRCm39) missense probably damaging 1.00
IGL02252:Pdzd9 APN 7 120,262,238 (GRCm39) missense probably benign 0.00
IGL02393:Pdzd9 APN 7 120,262,206 (GRCm39) nonsense probably null
R0826:Pdzd9 UTSW 7 120,267,624 (GRCm39) missense probably damaging 0.99
R4131:Pdzd9 UTSW 7 120,262,092 (GRCm39) missense possibly damaging 0.81
R4820:Pdzd9 UTSW 7 120,267,619 (GRCm39) missense probably damaging 1.00
R4915:Pdzd9 UTSW 7 120,269,391 (GRCm39) missense possibly damaging 0.82
R5883:Pdzd9 UTSW 7 120,267,776 (GRCm39) missense possibly damaging 0.60
R6283:Pdzd9 UTSW 7 120,259,449 (GRCm39) missense possibly damaging 0.66
R6896:Pdzd9 UTSW 7 120,262,095 (GRCm39) makesense probably null
R7017:Pdzd9 UTSW 7 120,262,225 (GRCm39) missense probably benign 0.23
R9054:Pdzd9 UTSW 7 120,269,498 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CGTCCTGCAGAATGTCCTTTG -3'
(R):5'- GATCAGTACAGCTCTTTTCAAGCC -3'

Sequencing Primer
(F):5'- CCTGCAGAATGTCCTTTGTAGAAG -3'
(R):5'- ACAGCTCTTTTCAAGCCATTATTTC -3'
Posted On 2015-05-14