Incidental Mutation 'R1023:Plac8'
ID 94617
Institutional Source Beutler Lab
Gene Symbol Plac8
Ensembl Gene ENSMUSG00000029322
Gene Name placenta-specific 8
Synonyms D5Wsu111e, C15, onzin
MMRRC Submission 039125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1023 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 100701591-100720111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100704447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 83 (D83E)
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: D83E

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031264
Gene: ENSMUSG00000029322
AA Change: D83E

DomainStartEndE-ValueType
Pfam:PLAC8 23 102 4.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097437
AA Change: D83E

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108533
Gene: ENSMUSG00000029322
AA Change: D83E

DomainStartEndE-ValueType
Pfam:PLAC8 23 103 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112910
AA Change: D83E

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108531
Gene: ENSMUSG00000029322
AA Change: D83E

DomainStartEndE-ValueType
Pfam:PLAC8 23 103 1.3e-19 PFAM
Meta Mutation Damage Score 0.0880 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,772,632 (GRCm39) A607V probably damaging Het
4930523C07Rik A G 1: 159,905,057 (GRCm39) probably benign Het
Ap3d1 A T 10: 80,550,092 (GRCm39) L713Q probably damaging Het
Baz2a A G 10: 127,957,676 (GRCm39) T1010A possibly damaging Het
Cdh15 T C 8: 123,591,939 (GRCm39) I608T probably damaging Het
Cdkl2 A T 5: 92,187,145 (GRCm39) D40E possibly damaging Het
Col9a2 G A 4: 120,901,207 (GRCm39) G118R unknown Het
Cryge C A 1: 65,089,945 (GRCm39) C79F probably damaging Het
Dapk1 T C 13: 60,878,799 (GRCm39) L596P probably damaging Het
Dqx1 G A 6: 83,038,070 (GRCm39) C486Y probably damaging Het
Dync2i1 T C 12: 116,196,277 (GRCm39) E490G probably damaging Het
Enam A G 5: 88,649,826 (GRCm39) Q445R probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnpat A T 8: 125,597,519 (GRCm39) D27V probably benign Het
Htr5a A T 5: 28,047,996 (GRCm39) T184S possibly damaging Het
Lap3 C T 5: 45,652,553 (GRCm39) P50S probably benign Het
Mamdc2 A T 19: 23,288,271 (GRCm39) M589K probably damaging Het
Mast4 A G 13: 102,872,004 (GRCm39) S2263P probably benign Het
Mef2b C T 8: 70,618,247 (GRCm39) P109L possibly damaging Het
Meltf T A 16: 31,703,778 (GRCm39) F168L probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nup205 T A 6: 35,211,641 (GRCm39) F1661I probably damaging Het
Or11h4b A T 14: 50,918,473 (GRCm39) L206H probably damaging Het
Or5h19 A T 16: 58,856,178 (GRCm39) N307K probably benign Het
Pnpt1 T C 11: 29,091,328 (GRCm39) probably benign Het
Pold2 G T 11: 5,825,140 (GRCm39) Q86K probably benign Het
Ptprt A G 2: 161,400,863 (GRCm39) L1057P probably damaging Het
Rev3l A G 10: 39,708,635 (GRCm39) H2284R probably damaging Het
Scart1 T A 7: 139,804,376 (GRCm39) C484S possibly damaging Het
Skint6 A C 4: 113,095,300 (GRCm39) S120A probably benign Het
Slc1a7 G A 4: 107,864,770 (GRCm39) V270M probably damaging Het
Spata2 A G 2: 167,327,142 (GRCm39) M85T probably benign Het
Taf1b G T 12: 24,559,558 (GRCm39) probably benign Het
Tert A G 13: 73,790,178 (GRCm39) N844S probably benign Het
Thrap3 G A 4: 126,073,882 (GRCm39) S288L possibly damaging Het
Ubap2l A G 3: 89,955,180 (GRCm39) probably benign Het
Ubtf T C 11: 102,202,276 (GRCm39) E197G possibly damaging Het
Usp20 G T 2: 30,897,825 (GRCm39) G216W probably damaging Het
Yy1 T A 12: 108,759,457 (GRCm39) V40E unknown Het
Zfp335 G A 2: 164,734,505 (GRCm39) H1254Y possibly damaging Het
Other mutations in Plac8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0021:Plac8 UTSW 5 100,704,434 (GRCm39) missense probably benign 0.03
R0021:Plac8 UTSW 5 100,704,434 (GRCm39) missense probably benign 0.03
R5213:Plac8 UTSW 5 100,704,371 (GRCm39) missense probably benign
R5317:Plac8 UTSW 5 100,704,345 (GRCm39) critical splice donor site probably null
R5522:Plac8 UTSW 5 100,710,584 (GRCm39) missense probably benign 0.06
R6735:Plac8 UTSW 5 100,710,485 (GRCm39) splice site probably null
X0024:Plac8 UTSW 5 100,707,706 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATAACTTCCCCAGCCCCTAATTCTG -3'
(R):5'- TGTGAGATCTGACGTTCTAAGTCTCCG -3'

Sequencing Primer
(F):5'- AATTCTGTGGCCCAAGCCC -3'
(R):5'- cctcccccacccccatc -3'
Posted On 2014-01-05