Incidental Mutation 'R5331:Pdilt'
ID 423238
Institutional Source Beutler Lab
Gene Symbol Pdilt
Ensembl Gene ENSMUSG00000030968
Gene Name protein disulfide isomerase-like, testis expressed
Synonyms PDILT, 1700007B13Rik
MMRRC Submission 042913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R5331 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119085810-119122712 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119114147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 117 (E117G)
Ref Sequence ENSEMBL: ENSMUSP00000033267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033267] [ENSMUST00000207796]
AlphaFold Q9DAN1
Predicted Effect possibly damaging
Transcript: ENSMUST00000033267
AA Change: E117G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: E117G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 86 97 N/A INTRINSIC
Pfam:Thioredoxin_6 177 362 6e-35 PFAM
Pfam:Thioredoxin 385 489 3.7e-16 PFAM
low complexity region 495 512 N/A INTRINSIC
low complexity region 551 579 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182878
Predicted Effect probably benign
Transcript: ENSMUST00000207796
Meta Mutation Damage Score 0.1463 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (99/99)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility and abnormal sperm physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,615,375 (GRCm39) D83G probably benign Het
Ablim1 T C 19: 57,143,681 (GRCm39) T80A probably damaging Het
Adam6b C A 12: 113,454,200 (GRCm39) P339H possibly damaging Het
Adgrb2 A T 4: 129,915,995 (GRCm39) H1505L possibly damaging Het
Ankrd46 G A 15: 36,486,175 (GRCm39) T26I probably benign Het
Bmpr1b T C 3: 141,562,176 (GRCm39) N337S probably damaging Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cct5 A G 15: 31,594,448 (GRCm39) probably benign Het
Cdca2 T C 14: 67,914,920 (GRCm39) K780E possibly damaging Het
Cds1 T C 5: 101,946,361 (GRCm39) S187P probably damaging Het
Ces3a G A 8: 105,784,188 (GRCm39) E416K probably damaging Het
Chd8 T A 14: 52,439,571 (GRCm39) probably benign Het
Chuk A T 19: 44,067,394 (GRCm39) V587E probably damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Commd10 T C 18: 47,093,497 (GRCm39) V19A probably damaging Het
Ctsa A G 2: 164,676,229 (GRCm39) probably benign Het
Dnah6 T A 6: 73,051,573 (GRCm39) I3074F probably damaging Het
Dydc1 T C 14: 40,804,320 (GRCm39) probably null Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Elp1 T C 4: 56,800,001 (GRCm39) T42A probably benign Het
Enpp3 T A 10: 24,684,058 (GRCm39) N227I probably damaging Het
Fam131c A T 4: 141,110,141 (GRCm39) T180S probably benign Het
Fam193a C A 5: 34,622,915 (GRCm39) probably null Het
Fbxo41 T C 6: 85,456,888 (GRCm39) E427G probably benign Het
Gabrr2 A G 4: 33,082,583 (GRCm39) K236E possibly damaging Het
Gm10152 A T 7: 144,317,283 (GRCm39) noncoding transcript Het
Gm18025 C T 12: 34,340,574 (GRCm39) C173Y probably benign Het
Gm5414 C A 15: 101,533,099 (GRCm39) V443F probably damaging Het
Gm7334 T C 17: 51,006,160 (GRCm39) S149P possibly damaging Het
Gpaa1 T A 15: 76,216,511 (GRCm39) probably benign Het
Grik2 G A 10: 49,008,867 (GRCm39) T740M probably damaging Het
Gvin3 T C 7: 106,197,958 (GRCm39) noncoding transcript Het
Hdac5 T C 11: 102,088,180 (GRCm39) Y930C probably damaging Het
Hepacam2 T C 6: 3,483,377 (GRCm39) T211A probably benign Het
Herc4 G T 10: 63,143,578 (GRCm39) E703* probably null Het
Hras T C 7: 140,772,853 (GRCm39) M1V probably null Het
Il23r T G 6: 67,400,479 (GRCm39) Q617P probably damaging Het
Insc T A 7: 114,444,273 (GRCm39) M420K probably damaging Het
Ints10 A T 8: 69,273,472 (GRCm39) probably null Het
Kank1 A G 19: 25,388,693 (GRCm39) T789A probably damaging Het
Kat6a T A 8: 23,430,000 (GRCm39) L1785Q unknown Het
Kcnj12 A G 11: 60,961,012 (GRCm39) K437E probably benign Het
Knl1 T A 2: 118,900,736 (GRCm39) D812E possibly damaging Het
Luc7l C A 17: 26,494,707 (GRCm39) C104* probably null Het
Lurap1 G A 4: 116,001,601 (GRCm39) L31F probably damaging Het
Mia2 A G 12: 59,142,598 (GRCm39) S5G probably benign Het
Mon1b C T 8: 114,362,899 (GRCm39) T49I probably null Het
Mrgprb3 T C 7: 48,292,682 (GRCm39) T290A possibly damaging Het
Ms4a20 A G 19: 11,069,222 (GRCm39) probably benign Het
Mxd3 T C 13: 55,477,071 (GRCm39) probably benign Het
Negr1 A T 3: 156,774,913 (GRCm39) K210* probably null Het
Nek7 A T 1: 138,426,312 (GRCm39) probably null Het
Nktr T C 9: 121,581,834 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,111 (GRCm39) T796A probably damaging Het
Nwd2 C A 5: 63,963,859 (GRCm39) L1148I probably benign Het
Or5d46 T C 2: 88,170,332 (GRCm39) L141P probably damaging Het
Osmr G C 15: 6,872,362 (GRCm39) T244S probably damaging Het
Ovol3 T C 7: 29,932,904 (GRCm39) D177G possibly damaging Het
Pcdha4 G A 18: 37,087,755 (GRCm39) R646H probably benign Het
Pecr A G 1: 72,314,005 (GRCm39) probably benign Het
Per3 G T 4: 151,125,759 (GRCm39) L187I probably damaging Het
Plcl2 G A 17: 50,816,876 (GRCm39) A81T probably benign Het
Polr2a T C 11: 69,638,101 (GRCm39) N123D probably benign Het
Prex2 T A 1: 11,210,235 (GRCm39) D558E possibly damaging Het
Psma5 T G 3: 108,175,386 (GRCm39) V146G possibly damaging Het
Rgs11 A T 17: 26,421,947 (GRCm39) M1L probably benign Het
Rgsl1 T C 1: 153,678,038 (GRCm39) N130S probably benign Het
Rhbg T A 3: 88,152,775 (GRCm39) T313S probably benign Het
Ripply2 T A 9: 86,897,691 (GRCm39) probably benign Het
Scap T C 9: 110,210,701 (GRCm39) V1011A probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scarf1 G A 11: 75,406,406 (GRCm39) G230D probably damaging Het
Slc17a8 A G 10: 89,425,356 (GRCm39) probably null Het
Slc22a14 A T 9: 119,059,662 (GRCm39) L153Q probably damaging Het
Slc22a27 A G 19: 7,856,820 (GRCm39) I406T probably benign Het
Slc30a6 A G 17: 74,730,190 (GRCm39) D355G probably benign Het
Socs7 A G 11: 97,268,852 (GRCm39) D382G possibly damaging Het
Sphkap A G 1: 83,254,503 (GRCm39) V1082A probably benign Het
Stox2 G A 8: 47,866,662 (GRCm39) probably benign Het
Tacc2 T C 7: 130,335,258 (GRCm39) S524P probably damaging Het
Tbc1d9b C T 11: 50,037,140 (GRCm39) A263V probably benign Het
Tekt5 C T 16: 10,179,193 (GRCm39) M391I probably benign Het
Tfap2b A T 1: 19,296,722 (GRCm39) M222L probably benign Het
Themis2 T C 4: 132,510,244 (GRCm39) D652G possibly damaging Het
Tmem185b A G 1: 119,455,322 (GRCm39) probably benign Het
Trpv4 A G 5: 114,773,604 (GRCm39) Y253H probably damaging Het
Trpv5 G A 6: 41,637,266 (GRCm39) R358C probably benign Het
Ush2a G A 1: 188,460,578 (GRCm39) G2613E probably benign Het
Usp25 C A 16: 76,847,446 (GRCm39) Q185K probably damaging Het
Xkr5 G A 8: 18,983,484 (GRCm39) probably benign Het
Zfp541 C T 7: 15,829,683 (GRCm39) P1331S probably damaging Het
Other mutations in Pdilt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Pdilt APN 7 119,099,667 (GRCm39) missense probably damaging 1.00
IGL02102:Pdilt APN 7 119,086,173 (GRCm39) missense probably benign 0.28
IGL02312:Pdilt APN 7 119,118,890 (GRCm39) missense probably benign 0.03
IGL02887:Pdilt APN 7 119,097,272 (GRCm39) missense possibly damaging 0.86
R0670:Pdilt UTSW 7 119,099,651 (GRCm39) missense probably benign 0.03
R0759:Pdilt UTSW 7 119,088,707 (GRCm39) nonsense probably null
R1525:Pdilt UTSW 7 119,087,217 (GRCm39) missense probably damaging 0.99
R1612:Pdilt UTSW 7 119,086,198 (GRCm39) missense possibly damaging 0.95
R1633:Pdilt UTSW 7 119,087,217 (GRCm39) missense probably damaging 1.00
R1848:Pdilt UTSW 7 119,088,607 (GRCm39) missense probably benign 0.02
R3026:Pdilt UTSW 7 119,114,177 (GRCm39) missense probably benign 0.01
R3546:Pdilt UTSW 7 119,099,711 (GRCm39) nonsense probably null
R4406:Pdilt UTSW 7 119,094,232 (GRCm39) missense probably damaging 1.00
R5459:Pdilt UTSW 7 119,086,158 (GRCm39) missense probably benign 0.01
R5771:Pdilt UTSW 7 119,094,217 (GRCm39) missense probably damaging 0.98
R5807:Pdilt UTSW 7 119,099,766 (GRCm39) unclassified probably benign
R6143:Pdilt UTSW 7 119,094,265 (GRCm39) missense probably damaging 1.00
R6456:Pdilt UTSW 7 119,099,706 (GRCm39) missense probably damaging 0.99
R6850:Pdilt UTSW 7 119,086,182 (GRCm39) missense probably damaging 0.98
R7159:Pdilt UTSW 7 119,087,174 (GRCm39) missense probably benign 0.01
R7676:Pdilt UTSW 7 119,094,220 (GRCm39) missense probably damaging 1.00
R8266:Pdilt UTSW 7 119,088,604 (GRCm39) missense probably benign 0.01
R8282:Pdilt UTSW 7 119,097,293 (GRCm39) missense probably damaging 1.00
R8437:Pdilt UTSW 7 119,114,109 (GRCm39) missense possibly damaging 0.95
R8951:Pdilt UTSW 7 119,099,611 (GRCm39) missense possibly damaging 0.82
R9581:Pdilt UTSW 7 119,099,633 (GRCm39) missense probably damaging 0.96
R9588:Pdilt UTSW 7 119,100,870 (GRCm39) missense probably benign
R9672:Pdilt UTSW 7 119,100,824 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GATGGCTCCAGGACTCAAATTG -3'
(R):5'- CTCTCAGGACAAACAGGACG -3'

Sequencing Primer
(F):5'- TCAAATTGAGATGGAGCAACAAATG -3'
(R):5'- GGGAGAGAGAAGCCTAGTCTATC -3'
Posted On 2016-08-04