Incidental Mutation 'R5851:Pdzph1'
ID 454701
Institutional Source Beutler Lab
Gene Symbol Pdzph1
Ensembl Gene ENSMUSG00000024227
Gene Name PDZ and pleckstrin homology domains 1
Synonyms 2610034M16Rik
MMRRC Submission 044067-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5851 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 58878808-58991375 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 58973746 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 514 (T514P)
Ref Sequence ENSEMBL: ENSMUSP00000025064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025064]
AlphaFold Q8BGR1
Predicted Effect probably benign
Transcript: ENSMUST00000025064
AA Change: T514P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T514P

DomainStartEndE-ValueType
Blast:PDZ 780 844 6e-20 BLAST
PDZ 915 984 3.31e-15 SMART
PH 993 1096 9.4e-19 SMART
PH 1120 1218 2.83e-13 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930404N11Rik A T 10: 81,364,877 (GRCm38) probably null Het
Abca2 A G 2: 25,442,310 (GRCm38) N1452D possibly damaging Het
Abhd15 T C 11: 77,518,447 (GRCm38) L329P probably benign Het
Add3 T C 19: 53,236,774 (GRCm38) S442P probably damaging Het
Arhgef18 T C 8: 3,434,980 (GRCm38) F228L probably damaging Het
Bptf A T 11: 107,110,862 (GRCm38) Y475N probably damaging Het
C3 T C 17: 57,211,612 (GRCm38) N1257S probably null Het
Ccdc94 C T 17: 55,967,582 (GRCm38) S298F probably damaging Het
Cd163l1 C T 7: 140,228,027 (GRCm38) P704S possibly damaging Het
Cdkl1 A T 12: 69,756,564 (GRCm38) Y179* probably null Het
Ceacam1 T C 7: 25,474,600 (GRCm38) N210S possibly damaging Het
Celf3 T A 3: 94,479,126 (GRCm38) I7N probably damaging Het
Cmpk1 A G 4: 114,986,970 (GRCm38) V55A possibly damaging Het
Csrnp1 C T 9: 119,973,078 (GRCm38) G305D possibly damaging Het
Dnah3 A G 7: 120,039,362 (GRCm38) S1266P possibly damaging Het
Edc4 T C 8: 105,890,867 (GRCm38) L1077P probably damaging Het
Efcab1 T A 16: 14,920,436 (GRCm38) L155H probably damaging Het
Fam174a G A 1: 95,325,143 (GRCm38) G157S probably damaging Het
Fubp3 T A 2: 31,598,610 (GRCm38) D159E probably benign Het
Garem2 C T 5: 30,114,290 (GRCm38) T250M probably damaging Het
H2-Eb1 C T 17: 34,309,771 (GRCm38) P92L probably benign Het
Ifnl3 G T 7: 28,523,511 (GRCm38) C69F probably damaging Het
Itga2b C A 11: 102,457,601 (GRCm38) probably benign Het
Klhl33 A T 14: 50,892,878 (GRCm38) D386E probably damaging Het
Lin9 T A 1: 180,669,198 (GRCm38) L351I probably benign Het
Lor G A 3: 92,080,539 (GRCm38) A480V unknown Het
Msh3 G T 13: 92,215,522 (GRCm38) Q1041K probably benign Het
Myo1e G A 9: 70,383,804 (GRCm38) G959E probably benign Het
Nfat5 G T 8: 107,347,727 (GRCm38) V338L probably damaging Het
Nrf1 A G 6: 30,089,976 (GRCm38) H18R possibly damaging Het
Nup160 A G 2: 90,707,038 (GRCm38) D752G probably benign Het
Obscn A T 11: 58,994,700 (GRCm38) L2489* probably null Het
Olfr1184 A G 2: 88,486,860 (GRCm38) I43V possibly damaging Het
Olfr638 A G 7: 104,003,452 (GRCm38) E59G probably benign Het
Paip1 T C 13: 119,440,765 (GRCm38) S215P possibly damaging Het
Pate2 T A 9: 35,670,501 (GRCm38) Y26* probably null Het
Pcdhb10 A G 18: 37,412,758 (GRCm38) I296V probably benign Het
Pnlip G A 19: 58,673,792 (GRCm38) W123* probably null Het
Prmt2 C A 10: 76,236,740 (GRCm38) C9F possibly damaging Het
Rbl1 T A 2: 157,167,325 (GRCm38) K763N probably benign Het
Rfk C T 19: 17,395,198 (GRCm38) A28V probably damaging Het
Sdk1 G A 5: 141,962,669 (GRCm38) V590I probably benign Het
Sele A G 1: 164,049,574 (GRCm38) K140E probably benign Het
Skiv2l2 G A 13: 112,908,952 (GRCm38) R349W probably damaging Het
Sla G A 15: 66,783,723 (GRCm38) T189I probably damaging Het
Slc46a2 A G 4: 59,913,906 (GRCm38) V339A probably damaging Het
Slc5a9 A G 4: 111,885,600 (GRCm38) F432L probably benign Het
Slc6a19 A G 13: 73,691,740 (GRCm38) F141S possibly damaging Het
Tas2r123 T C 6: 132,847,308 (GRCm38) L56S probably damaging Het
Tmem245 T C 4: 56,916,770 (GRCm38) I53V probably benign Het
Tor2a A T 2: 32,761,607 (GRCm38) Q278L probably benign Het
Trav6-3 A G 14: 53,430,115 (GRCm38) M15V probably benign Het
Ttc28 G A 5: 111,235,469 (GRCm38) probably benign Het
Ubap2 G A 4: 41,206,268 (GRCm38) Q534* probably null Het
Zfp954 C A 7: 7,115,625 (GRCm38) E307* probably null Het
Zscan21 A G 5: 138,126,478 (GRCm38) K219E probably benign Het
Other mutations in Pdzph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Pdzph1 APN 17 58,974,796 (GRCm38) missense possibly damaging 0.46
IGL00644:Pdzph1 APN 17 58,888,110 (GRCm38) missense probably benign
IGL01413:Pdzph1 APN 17 58,879,152 (GRCm38) missense possibly damaging 0.82
IGL01530:Pdzph1 APN 17 58,922,715 (GRCm38) missense probably damaging 1.00
IGL02089:Pdzph1 APN 17 58,967,339 (GRCm38) missense possibly damaging 0.92
IGL02201:Pdzph1 APN 17 58,967,511 (GRCm38) splice site probably benign
IGL02548:Pdzph1 APN 17 58,973,391 (GRCm38) missense probably benign 0.10
IGL02618:Pdzph1 APN 17 58,879,073 (GRCm38) utr 3 prime probably benign
IGL02660:Pdzph1 APN 17 58,880,647 (GRCm38) missense probably damaging 0.97
IGL02749:Pdzph1 APN 17 58,932,483 (GRCm38) missense possibly damaging 0.95
IGL02876:Pdzph1 APN 17 58,974,069 (GRCm38) missense probably benign
IGL03304:Pdzph1 APN 17 58,880,646 (GRCm38) missense probably damaging 1.00
IGL03336:Pdzph1 APN 17 58,974,234 (GRCm38) missense probably benign 0.00
R0008:Pdzph1 UTSW 17 58,922,761 (GRCm38) splice site probably benign
R0008:Pdzph1 UTSW 17 58,922,761 (GRCm38) splice site probably benign
R0498:Pdzph1 UTSW 17 58,973,830 (GRCm38) missense probably benign 0.00
R0553:Pdzph1 UTSW 17 58,922,727 (GRCm38) missense probably damaging 1.00
R0594:Pdzph1 UTSW 17 58,954,479 (GRCm38) missense possibly damaging 0.76
R1306:Pdzph1 UTSW 17 58,932,432 (GRCm38) missense possibly damaging 0.90
R1370:Pdzph1 UTSW 17 58,974,087 (GRCm38) missense possibly damaging 0.73
R1382:Pdzph1 UTSW 17 58,974,747 (GRCm38) missense probably benign 0.10
R1463:Pdzph1 UTSW 17 58,932,445 (GRCm38) missense probably damaging 1.00
R1766:Pdzph1 UTSW 17 58,973,752 (GRCm38) missense probably benign 0.16
R1773:Pdzph1 UTSW 17 58,974,813 (GRCm38) missense probably damaging 0.98
R1862:Pdzph1 UTSW 17 58,922,583 (GRCm38) missense probably damaging 1.00
R2070:Pdzph1 UTSW 17 58,974,097 (GRCm38) missense probably benign 0.04
R2071:Pdzph1 UTSW 17 58,974,097 (GRCm38) missense probably benign 0.04
R2229:Pdzph1 UTSW 17 58,932,412 (GRCm38) splice site probably benign
R2264:Pdzph1 UTSW 17 58,888,167 (GRCm38) critical splice acceptor site probably null
R2334:Pdzph1 UTSW 17 58,922,649 (GRCm38) missense probably damaging 1.00
R3750:Pdzph1 UTSW 17 58,973,336 (GRCm38) nonsense probably null
R4700:Pdzph1 UTSW 17 58,974,546 (GRCm38) missense probably damaging 0.98
R4847:Pdzph1 UTSW 17 58,973,530 (GRCm38) missense possibly damaging 0.95
R4868:Pdzph1 UTSW 17 58,974,756 (GRCm38) missense probably benign 0.00
R5130:Pdzph1 UTSW 17 58,922,609 (GRCm38) missense probably damaging 1.00
R5329:Pdzph1 UTSW 17 58,974,880 (GRCm38) missense probably damaging 1.00
R5574:Pdzph1 UTSW 17 58,973,947 (GRCm38) missense probably benign 0.00
R5770:Pdzph1 UTSW 17 58,879,151 (GRCm38) missense probably damaging 1.00
R5795:Pdzph1 UTSW 17 58,885,867 (GRCm38) missense possibly damaging 0.47
R5842:Pdzph1 UTSW 17 58,974,412 (GRCm38) missense possibly damaging 0.64
R6158:Pdzph1 UTSW 17 58,973,627 (GRCm38) missense probably damaging 0.96
R6813:Pdzph1 UTSW 17 58,974,436 (GRCm38) missense probably benign 0.08
R7022:Pdzph1 UTSW 17 58,974,126 (GRCm38) missense probably benign 0.02
R7395:Pdzph1 UTSW 17 58,879,159 (GRCm38) missense possibly damaging 0.85
R7525:Pdzph1 UTSW 17 58,967,341 (GRCm38) missense possibly damaging 0.73
R7944:Pdzph1 UTSW 17 58,932,460 (GRCm38) missense probably damaging 1.00
R7945:Pdzph1 UTSW 17 58,932,460 (GRCm38) missense probably damaging 1.00
R7992:Pdzph1 UTSW 17 58,879,110 (GRCm38) missense possibly damaging 0.71
R8016:Pdzph1 UTSW 17 58,932,481 (GRCm38) missense probably damaging 0.98
R8116:Pdzph1 UTSW 17 58,975,143 (GRCm38) missense probably benign 0.01
R8273:Pdzph1 UTSW 17 58,973,014 (GRCm38) missense probably benign 0.00
R8523:Pdzph1 UTSW 17 58,884,013 (GRCm38) missense probably damaging 1.00
R8819:Pdzph1 UTSW 17 58,880,720 (GRCm38) nonsense probably null
R8820:Pdzph1 UTSW 17 58,880,720 (GRCm38) nonsense probably null
R8839:Pdzph1 UTSW 17 58,950,242 (GRCm38) missense probably benign 0.02
R8871:Pdzph1 UTSW 17 58,888,038 (GRCm38) missense probably damaging 1.00
R8898:Pdzph1 UTSW 17 58,974,339 (GRCm38) missense probably benign 0.00
R8959:Pdzph1 UTSW 17 58,974,604 (GRCm38) missense probably damaging 0.97
R9043:Pdzph1 UTSW 17 58,973,540 (GRCm38) missense probably benign 0.05
R9083:Pdzph1 UTSW 17 58,954,400 (GRCm38) missense possibly damaging 0.94
R9092:Pdzph1 UTSW 17 58,973,130 (GRCm38) missense probably damaging 1.00
R9682:Pdzph1 UTSW 17 58,950,267 (GRCm38) missense probably damaging 1.00
R9757:Pdzph1 UTSW 17 58,974,903 (GRCm38) nonsense probably null
R9774:Pdzph1 UTSW 17 58,974,756 (GRCm38) missense probably benign 0.00
X0028:Pdzph1 UTSW 17 58,879,121 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCTGTGAATATTGCCATGAAG -3'
(R):5'- AACCTTGCAGCTCTTGGGAG -3'

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