Incidental Mutation 'R4131:Pdzd9'
ID 314676
Institutional Source Beutler Lab
Gene Symbol Pdzd9
Ensembl Gene ENSMUSG00000030887
Gene Name PDZ domain containing 9
Synonyms 4930408O21Rik
MMRRC Submission 040994-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R4131 (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: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Abca12 A G 1: 71,359,030 (GRCm39) probably null Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Art3 A T 5: 92,540,421 (GRCm39) M55L probably benign Het
C1d C T 11: 17,214,054 (GRCm39) probably benign Het
Ces1c A G 8: 93,827,312 (GRCm39) M484T probably damaging Het
Cisd3 T C 11: 97,579,257 (GRCm39) V133A possibly damaging Het
Clpx A G 9: 65,223,937 (GRCm39) I230V possibly damaging Het
Cmklr1 C A 5: 113,752,545 (GRCm39) R152L probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Heca A G 10: 17,777,987 (GRCm39) S537P probably damaging Het
Igha C A 12: 113,222,449 (GRCm39) probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Klk1b3 T A 7: 43,851,111 (GRCm39) N181K probably damaging Het
Klra2 T A 6: 131,205,180 (GRCm39) R220S probably benign Het
Lama2 C T 10: 26,917,170 (GRCm39) V2252I probably benign Het
Megf10 G A 18: 57,313,607 (GRCm39) C17Y probably damaging Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or52n4b C G 7: 108,143,744 (GRCm39) S2* probably null Het
Or8b37 T A 9: 37,959,170 (GRCm39) Y217* probably null Het
Phactr1 A T 13: 43,190,953 (GRCm39) Q141L probably damaging Het
Prelid2 T G 18: 42,084,224 (GRCm39) D6A possibly damaging Het
Psmd1 T C 1: 86,006,422 (GRCm39) S263P probably damaging Het
Rassf6 C T 5: 90,757,646 (GRCm39) D105N probably damaging Het
Ryr3 C T 2: 112,757,328 (GRCm39) probably null Het
Sema4g T A 19: 44,987,358 (GRCm39) F501L probably benign Het
Ssrp1 A G 2: 84,874,791 (GRCm39) E537G probably null Het
Try4 T A 6: 41,282,335 (GRCm39) Y218* probably null Het
Zbtb40 G T 4: 136,722,707 (GRCm39) S790R 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
R4130: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'- TCCTGCAGAATGTCCTTTGTAG -3'
(R):5'- TCAGTACAGCTCTTTTCAAGCC -3'

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