Incidental Mutation 'R0021:Plac8'
ID 8386
Institutional Source Beutler Lab
Gene Symbol Plac8
Ensembl Gene ENSMUSG00000029322
Gene Name placenta-specific 8
Synonyms C15, D5Wsu111e, onzin
MMRRC Submission 038316-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0021 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 100553725-100572245 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100556568 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 88 (T88S)
Ref Sequence ENSEMBL: ENSMUSP00000108531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031264] [ENSMUST00000097437] [ENSMUST00000112910]
AlphaFold Q9JI48
Predicted Effect probably benign
Transcript: ENSMUST00000031264
AA Change: T88S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031264
Gene: ENSMUSG00000029322
AA Change: T88S

DomainStartEndE-ValueType
Pfam:PLAC8 23 102 4.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097437
AA Change: T88S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108533
Gene: ENSMUSG00000029322
AA Change: T88S

DomainStartEndE-ValueType
Pfam:PLAC8 23 103 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112910
AA Change: T88S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108531
Gene: ENSMUSG00000029322
AA Change: T88S

DomainStartEndE-ValueType
Pfam:PLAC8 23 103 1.3e-19 PFAM
Meta Mutation Damage Score 0.2081 question?
Coding Region Coverage
  • 1x: 84.2%
  • 3x: 78.9%
  • 10x: 65.7%
  • 20x: 50.3%
Validation Efficiency 96% (92/96)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased neutrophil capacity for intracellular bacteria killing and impaired brown adipose tissue and thermoregulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,677,196 noncoding transcript Het
5830411N06Rik G A 7: 140,296,397 R594H probably benign Het
Abcc5 T A 16: 20,378,661 K647* probably null Het
Aplp1 A G 7: 30,435,816 probably benign Het
AU019823 A C 9: 50,610,425 D65E probably damaging Het
Baiap3 T C 17: 25,243,669 E1105G probably damaging Het
Brinp3 T G 1: 146,901,451 S545R probably benign Het
Btnl1 A G 17: 34,379,494 E28G probably benign Het
Ccr6 G A 17: 8,256,766 V268M possibly damaging Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Col1a2 G A 6: 4,518,822 probably benign Het
D630045J12Rik G A 6: 38,183,967 Q1081* probably null Het
Dhx15 T C 5: 52,157,488 T626A probably damaging Het
Dhx36 T C 3: 62,477,595 I699V possibly damaging Het
Dnah9 A G 11: 65,969,979 I2855T probably benign Het
Fsip2 T A 2: 82,999,857 probably benign Het
Galnt11 A T 5: 25,248,857 D27V probably damaging Het
Gm4981 C A 10: 58,235,563 E276D probably benign Het
Gm5134 T A 10: 75,993,884 C335S probably damaging Het
Hdhd2 A T 18: 76,970,615 K227N probably damaging Het
Itgb4 A T 11: 115,979,627 D94V possibly damaging Het
Krtcap3 A G 5: 31,252,959 H227R probably benign Het
Macf1 T C 4: 123,475,577 H232R probably damaging Het
Map2k4 A G 11: 65,712,284 I174T probably damaging Het
Mcc C G 18: 44,519,516 probably benign Het
Mcm9 G A 10: 53,537,901 T1099I possibly damaging Het
Nqo2 T C 13: 33,981,507 I129T probably benign Het
Pdgfrb T A 18: 61,064,926 probably benign Het
Phf7 C T 14: 31,238,486 probably benign Het
Prss52 T G 14: 64,104,408 V16G probably benign Het
Psmb9 G A 17: 34,184,303 A80V probably benign Het
Ptprk T A 10: 28,592,895 V1425E probably damaging Het
Scn2a T C 2: 65,670,515 V7A possibly damaging Het
Serpini1 T C 3: 75,619,313 Y291H probably damaging Het
Setd6 A G 8: 95,716,665 K19E probably damaging Het
Siah2 T C 3: 58,676,292 H191R probably benign Het
Slc27a2 T C 2: 126,567,886 probably benign Het
Tbc1d10a T C 11: 4,213,680 C277R probably damaging Het
Trim55 A C 3: 19,644,702 M32L probably benign Het
Unc5b T C 10: 60,778,919 T200A probably benign Het
Wrap53 A T 11: 69,563,886 M219K probably damaging Het
Zfp790 G A 7: 29,825,688 probably benign Het
Other mutations in Plac8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0021:Plac8 UTSW 5 100556568 missense probably benign 0.03
R1023:Plac8 UTSW 5 100556581 missense probably benign 0.07
R5213:Plac8 UTSW 5 100556505 missense probably benign
R5317:Plac8 UTSW 5 100556479 critical splice donor site probably null
R5522:Plac8 UTSW 5 100562718 missense probably benign 0.06
R6735:Plac8 UTSW 5 100562619 splice site probably null
X0024:Plac8 UTSW 5 100559840 missense probably damaging 1.00
Posted On 2012-11-27