Incidental Mutation 'R6107:Prl8a8'
ID 485568
Institutional Source Beutler Lab
Gene Symbol Prl8a8
Ensembl Gene ENSMUSG00000021346
Gene Name prolactin family 8, subfamily a, member 81
Synonyms 1600032B14Rik, Prlpc3, PLP-Cgamma
MMRRC Submission 044257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6107 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 27690951-27697200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27695447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 100 (V100A)
Ref Sequence ENSEMBL: ENSMUSP00000153520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018389] [ENSMUST00000110350] [ENSMUST00000223621] [ENSMUST00000224072]
AlphaFold Q9DAS4
Predicted Effect probably benign
Transcript: ENSMUST00000018389
AA Change: V61A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000018389
Gene: ENSMUSG00000021346
AA Change: V61A

DomainStartEndE-ValueType
Pfam:Hormone_1 16 240 2.8e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110350
AA Change: V62A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105979
Gene: ENSMUSG00000021346
AA Change: V62A

DomainStartEndE-ValueType
Pfam:Hormone_1 17 241 3.1e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000223621
AA Change: V100A

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224072
AA Change: V99A

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adgrl3 A G 5: 81,836,410 (GRCm39) R723G probably damaging Het
Ankrd52 C A 10: 128,222,881 (GRCm39) N610K probably benign Het
Atp2a3 A G 11: 72,879,287 (GRCm39) probably null Het
Bahcc1 G A 11: 120,163,714 (GRCm39) A671T probably benign Het
Col6a5 A T 9: 105,769,471 (GRCm39) Y1764* probably null Het
E2f8 A G 7: 48,517,424 (GRCm39) V793A probably benign Het
Erbin A G 13: 103,970,400 (GRCm39) I1072T probably benign Het
Exoc2 T C 13: 31,060,780 (GRCm39) I575V probably benign Het
Fbxw19 C T 9: 109,324,834 (GRCm39) V28M probably damaging Het
Flt1 G A 5: 147,540,403 (GRCm39) T762M probably benign Het
Ghitm C A 14: 36,847,166 (GRCm39) A303S probably damaging Het
Gm18856 T A 13: 14,140,319 (GRCm39) probably benign Het
Gm5493 T A 17: 22,967,069 (GRCm39) H68Q possibly damaging Het
Hells T G 19: 38,942,093 (GRCm39) I461S probably benign Het
Inpp4a T A 1: 37,416,829 (GRCm39) I450N probably damaging Het
Kbtbd6 T A 14: 79,690,553 (GRCm39) V353D probably damaging Het
Kifap3 A T 1: 163,696,338 (GRCm39) T656S possibly damaging Het
Med23 A T 10: 24,781,932 (GRCm39) K713* probably null Het
Miga1 A T 3: 152,041,036 (GRCm39) F44I probably benign Het
Ngrn A G 7: 79,911,625 (GRCm39) E74G probably damaging Het
Or4k40 T C 2: 111,251,000 (GRCm39) S99G probably benign Het
Patl2 A T 2: 121,957,967 (GRCm39) L97Q probably damaging Het
Pcdha1 A G 18: 37,065,354 (GRCm39) I673V probably benign Het
Pcsk1 A G 13: 75,275,967 (GRCm39) T543A probably benign Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Rnase10 T A 14: 51,246,751 (GRCm39) V43E possibly damaging Het
Robo1 A G 16: 72,780,717 (GRCm39) S816G probably benign Het
Slc25a34 C T 4: 141,350,806 (GRCm39) V68M probably benign Het
Slc25a48 A T 13: 56,612,891 (GRCm39) E263V probably damaging Het
Slc7a14 A G 3: 31,311,759 (GRCm39) V87A probably damaging Het
Slc8b1 A G 5: 120,667,665 (GRCm39) I433V probably damaging Het
Smurf1 A G 5: 144,831,314 (GRCm39) V259A possibly damaging Het
Spag6l T A 16: 16,599,652 (GRCm39) N270I possibly damaging Het
Tas2r113 G A 6: 132,869,977 (GRCm39) V2M probably damaging Het
Tnpo2 T C 8: 85,780,104 (GRCm39) V680A probably damaging Het
Ttyh3 A C 5: 140,619,317 (GRCm39) probably null Het
Ufl1 A G 4: 25,251,999 (GRCm39) S639P possibly damaging Het
Znfx1 A T 2: 166,879,001 (GRCm39) F928I possibly damaging Het
Other mutations in Prl8a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Prl8a8 APN 13 27,693,593 (GRCm39) missense probably damaging 0.96
R0117:Prl8a8 UTSW 13 27,692,473 (GRCm39) missense probably damaging 1.00
R0515:Prl8a8 UTSW 13 27,692,350 (GRCm39) missense probably damaging 0.99
R0602:Prl8a8 UTSW 13 27,692,533 (GRCm39) splice site probably benign
R0708:Prl8a8 UTSW 13 27,695,528 (GRCm39) missense possibly damaging 0.64
R1824:Prl8a8 UTSW 13 27,692,433 (GRCm39) missense probably damaging 1.00
R3416:Prl8a8 UTSW 13 27,695,532 (GRCm39) missense probably damaging 1.00
R4432:Prl8a8 UTSW 13 27,694,463 (GRCm39) missense probably benign 0.41
R6146:Prl8a8 UTSW 13 27,694,463 (GRCm39) missense probably damaging 1.00
R6398:Prl8a8 UTSW 13 27,692,412 (GRCm39) missense probably damaging 1.00
R6493:Prl8a8 UTSW 13 27,691,335 (GRCm39) nonsense probably null
R7069:Prl8a8 UTSW 13 27,695,450 (GRCm39) missense probably benign 0.30
R7104:Prl8a8 UTSW 13 27,695,479 (GRCm39) missense probably damaging 1.00
R7493:Prl8a8 UTSW 13 27,695,418 (GRCm39) splice site probably null
R8147:Prl8a8 UTSW 13 27,695,564 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATACACATTTATGCATACCCTG -3'
(R):5'- AATGCACCATCTCTAAGTGGG -3'

Sequencing Primer
(F):5'- GGATTCTTGAAATGCTAGTCTCTC -3'
(R):5'- AATGCACCATCTCTAAGTGGGTTTTG -3'
Posted On 2017-08-16