Incidental Mutation 'R6690:Plbd1'
ID 530379
Institutional Source Beutler Lab
Gene Symbol Plbd1
Ensembl Gene ENSMUSG00000030214
Gene Name phospholipase B domain containing 1
Synonyms 1100001H23Rik
MMRRC Submission 044808-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6690 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 136589068-136638926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 136612598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 198 (N198K)
Ref Sequence ENSEMBL: ENSMUSP00000032336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032336]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032336
AA Change: N198K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: N198K

DomainStartEndE-ValueType
Pfam:Phospholip_B 16 545 3.7e-198 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137139
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,115,062 (GRCm39) G628D probably damaging Het
Ahnak G T 19: 8,986,945 (GRCm39) G2743V probably benign Het
Akr1c14 A T 13: 4,113,713 (GRCm39) T82S possibly damaging Het
Ccdc7b A G 8: 129,904,700 (GRCm39) T113A probably benign Het
Cep152 A T 2: 125,406,290 (GRCm39) L1414Q probably damaging Het
Chd8 T C 14: 52,464,694 (GRCm39) E658G possibly damaging Het
Clca3a1 G C 3: 144,719,644 (GRCm39) A442G probably damaging Het
Coro6 A G 11: 77,356,606 (GRCm39) T105A probably benign Het
Cux1 A G 5: 136,368,971 (GRCm39) I232T probably damaging Het
Dmrt1 A G 19: 25,523,449 (GRCm39) T267A probably benign Het
Fam149a G T 8: 45,802,071 (GRCm39) A387E probably damaging Het
Fat4 G A 3: 39,037,688 (GRCm39) G3780D probably damaging Het
Igf2r A T 17: 12,910,824 (GRCm39) L1998* probably null Het
Iqcf6 C T 9: 106,504,501 (GRCm39) T55I possibly damaging Het
Mterf3 G A 13: 67,065,110 (GRCm39) L264F probably damaging Het
Or10k2 G T 8: 84,267,904 (GRCm39) V44L probably benign Het
Or8g32 A G 9: 39,305,845 (GRCm39) I253V probably benign Het
Pcdhgb7 A T 18: 37,886,050 (GRCm39) I407F probably benign Het
Pip4k2b T C 11: 97,620,393 (GRCm39) D114G probably damaging Het
Prkcb T C 7: 121,888,737 (GRCm39) I57T probably damaging Het
Ralgapa1 C T 12: 55,769,558 (GRCm39) probably null Het
Slc26a8 A G 17: 28,863,629 (GRCm39) I710T possibly damaging Het
Smc2 A T 4: 52,449,375 (GRCm39) I179L probably benign Het
Tmub2 C T 11: 102,178,345 (GRCm39) H83Y probably damaging Het
Trip11 C A 12: 101,851,710 (GRCm39) D785Y possibly damaging Het
Vill A G 9: 118,890,975 (GRCm39) T194A probably benign Het
Vmn2r59 T C 7: 41,695,890 (GRCm39) D174G probably damaging Het
Other mutations in Plbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Plbd1 APN 6 136,611,468 (GRCm39) missense probably benign
IGL02131:Plbd1 APN 6 136,638,681 (GRCm39) utr 5 prime probably benign
R0355:Plbd1 UTSW 6 136,618,165 (GRCm39) missense possibly damaging 0.71
R0762:Plbd1 UTSW 6 136,618,145 (GRCm39) missense probably damaging 1.00
R1019:Plbd1 UTSW 6 136,628,903 (GRCm39) missense probably benign 0.03
R1456:Plbd1 UTSW 6 136,590,814 (GRCm39) missense probably benign 0.12
R1607:Plbd1 UTSW 6 136,589,304 (GRCm39) missense probably benign 0.04
R1640:Plbd1 UTSW 6 136,617,123 (GRCm39) missense probably benign 0.00
R2166:Plbd1 UTSW 6 136,590,788 (GRCm39) critical splice donor site probably null
R2909:Plbd1 UTSW 6 136,611,572 (GRCm39) missense probably damaging 1.00
R4494:Plbd1 UTSW 6 136,590,856 (GRCm39) missense probably damaging 1.00
R4529:Plbd1 UTSW 6 136,628,823 (GRCm39) missense probably benign 0.04
R4530:Plbd1 UTSW 6 136,628,823 (GRCm39) missense probably benign 0.04
R5206:Plbd1 UTSW 6 136,618,154 (GRCm39) missense probably benign 0.17
R5272:Plbd1 UTSW 6 136,617,156 (GRCm39) missense probably damaging 1.00
R5522:Plbd1 UTSW 6 136,594,298 (GRCm39) missense probably benign 0.31
R5649:Plbd1 UTSW 6 136,593,987 (GRCm39) missense probably benign 0.01
R5879:Plbd1 UTSW 6 136,611,503 (GRCm39) missense probably damaging 1.00
R5940:Plbd1 UTSW 6 136,590,719 (GRCm39) intron probably benign
R6311:Plbd1 UTSW 6 136,590,945 (GRCm39) missense probably benign 0.09
R6590:Plbd1 UTSW 6 136,612,598 (GRCm39) missense probably damaging 1.00
R6657:Plbd1 UTSW 6 136,594,250 (GRCm39) missense probably damaging 0.99
R6842:Plbd1 UTSW 6 136,612,612 (GRCm39) missense probably benign 0.05
R6938:Plbd1 UTSW 6 136,593,985 (GRCm39) missense probably benign 0.00
R7000:Plbd1 UTSW 6 136,589,836 (GRCm39) missense probably benign 0.21
R7214:Plbd1 UTSW 6 136,589,829 (GRCm39) missense probably damaging 1.00
R7654:Plbd1 UTSW 6 136,628,864 (GRCm39) missense possibly damaging 0.47
R7744:Plbd1 UTSW 6 136,594,244 (GRCm39) missense probably benign 0.00
R7870:Plbd1 UTSW 6 136,594,326 (GRCm39) missense possibly damaging 0.81
R9275:Plbd1 UTSW 6 136,594,286 (GRCm39) missense probably damaging 0.99
R9443:Plbd1 UTSW 6 136,611,555 (GRCm39) missense probably damaging 1.00
R9498:Plbd1 UTSW 6 136,589,244 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- TGTACCATAACATCCAGCCAGG -3'
(R):5'- TAGAAATTCTGTCCCCACACAAATG -3'

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