Incidental Mutation 'R6735:Plac8'
ID 530176
Institutional Source Beutler Lab
Gene Symbol Plac8
Ensembl Gene ENSMUSG00000029322
Gene Name placenta-specific 8
Synonyms D5Wsu111e, C15, onzin
MMRRC Submission 044853-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6735 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 100701591-100720111 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 100710485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031264] [ENSMUST00000097437] [ENSMUST00000112910]
AlphaFold Q9JI48
Predicted Effect probably null
Transcript: ENSMUST00000031264
SMART Domains Protein: ENSMUSP00000031264
Gene: ENSMUSG00000029322

DomainStartEndE-ValueType
Pfam:PLAC8 23 102 4.3e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097437
SMART Domains Protein: ENSMUSP00000108533
Gene: ENSMUSG00000029322

DomainStartEndE-ValueType
Pfam:PLAC8 23 103 1.3e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112910
SMART Domains Protein: ENSMUSP00000108531
Gene: ENSMUSG00000029322

DomainStartEndE-ValueType
Pfam:PLAC8 23 103 1.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144595
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (47/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,026,274 (GRCm39) T265A probably benign Het
Adap1 A T 5: 139,278,900 (GRCm39) Y127N probably damaging Het
Alg8 T C 7: 97,032,189 (GRCm39) F246S probably benign Het
Alpk1 A G 3: 127,518,098 (GRCm39) Y68H probably damaging Het
Arhgef5 T C 6: 43,251,966 (GRCm39) S906P probably benign Het
C9 A T 15: 6,519,387 (GRCm39) D408V probably benign Het
Cnot2 G A 10: 116,334,058 (GRCm39) P371S possibly damaging Het
Cpeb4 T A 11: 31,874,700 (GRCm39) Y174N probably benign Het
Enpp3 A G 10: 24,683,351 (GRCm39) Y289H probably damaging Het
Erbin A T 13: 104,020,718 (GRCm39) D80E probably damaging Het
Fgd6 A T 10: 93,910,182 (GRCm39) E829V possibly damaging Het
Foxn2 T G 17: 88,794,223 (GRCm39) S387A probably benign Het
Hapstr1 T A 16: 8,673,764 (GRCm39) H230Q probably benign Het
Irag2 T C 6: 145,106,619 (GRCm39) L201S probably damaging Het
Kif13a A G 13: 46,906,222 (GRCm39) S574P possibly damaging Het
Lhx6 T G 2: 35,981,390 (GRCm39) D67A probably damaging Het
Lmbr1l A T 15: 98,807,121 (GRCm39) M220K probably damaging Het
Macroh2a2 A G 10: 61,577,046 (GRCm39) I274T probably damaging Het
Naa35 T C 13: 59,773,378 (GRCm39) L111P probably damaging Het
Notch2 T A 3: 98,041,902 (GRCm39) V1307E probably damaging Het
Nts T A 10: 102,320,859 (GRCm39) M77L probably benign Het
Or5m11b A C 2: 85,805,778 (GRCm39) S64R possibly damaging Het
Pigz A G 16: 31,764,361 (GRCm39) N473S probably benign Het
Pkd2 A G 5: 104,628,195 (GRCm39) D423G probably damaging Het
Ppp2r2b T C 18: 42,821,653 (GRCm39) probably null Het
Proc T C 18: 32,256,701 (GRCm39) N322S probably benign Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Psd3 A G 8: 68,573,398 (GRCm39) probably null Het
Safb A G 17: 56,892,169 (GRCm39) probably benign Het
Scnn1g A G 7: 121,341,486 (GRCm39) D216G probably benign Het
Septin7 A G 9: 25,215,048 (GRCm39) E345G possibly damaging Het
Sult2a5 A T 7: 13,398,983 (GRCm39) K197* probably null Het
Suv39h1 C A X: 7,929,138 (GRCm39) R397L probably damaging Homo
Thbs4 T A 13: 92,891,674 (GRCm39) M814L possibly damaging Het
Tmem14a T A 1: 21,299,805 (GRCm39) probably benign Het
Tmprss11d C A 5: 86,457,159 (GRCm39) A167S probably damaging Het
Ttn C A 2: 76,629,252 (GRCm39) C14362F probably damaging Het
Usp15 T C 10: 123,004,272 (GRCm39) I161V possibly damaging Het
Vmn1r67 T C 7: 10,181,138 (GRCm39) L134P probably damaging Het
Wdr74 A G 19: 8,713,586 (GRCm39) E73G possibly damaging Het
Zbtb49 A T 5: 38,358,402 (GRCm39) M617K possibly damaging Het
Zc3h3 G A 15: 75,628,483 (GRCm39) T937I probably benign Het
Zeb2 C T 2: 45,000,028 (GRCm39) V25M probably null Het
Zfp108 T C 7: 23,961,197 (GRCm39) F596S probably damaging Het
Zfyve1 T A 12: 83,641,618 (GRCm39) N13Y possibly damaging Het
Zswim2 T C 2: 83,754,105 (GRCm39) D185G probably benign 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
R1023:Plac8 UTSW 5 100,704,447 (GRCm39) missense probably benign 0.07
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
X0024:Plac8 UTSW 5 100,707,706 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGCCCATTCAGTTTTAGG -3'
(R):5'- AGGCTGAAACGCCAACATTTTC -3'

Sequencing Primer
(F):5'- AAGGCTTTCAATGCTACCTTAAC -3'
(R):5'- GGCTGAAACGCCAACATTTTCTTTTG -3'
Posted On 2018-08-01