Incidental Mutation 'R4432:Prl8a8'
ID 381242
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 041701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4432 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 27690951-27697200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27694463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 109 (Y109F)
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: Y70F

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000018389
Gene: ENSMUSG00000021346
AA Change: Y70F

DomainStartEndE-ValueType
Pfam:Hormone_1 16 240 2.8e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110350
AA Change: Y71F

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105979
Gene: ENSMUSG00000021346
AA Change: Y71F

DomainStartEndE-ValueType
Pfam:Hormone_1 17 241 3.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223621
AA Change: Y109F

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000224072
AA Change: Y108F

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,132,414 (GRCm39) M294V probably benign Het
Abcc5 A T 16: 20,186,937 (GRCm39) probably null Het
Acsm4 A C 7: 119,310,610 (GRCm39) E499A probably damaging Het
Adamtsl4 T C 3: 95,589,069 (GRCm39) probably null Het
Ank2 A T 3: 126,741,455 (GRCm39) probably benign Het
Anks6 G A 4: 47,044,905 (GRCm39) Q334* probably null Het
Cadps2 T A 6: 23,626,737 (GRCm39) I155L probably damaging Het
Casp4 G A 9: 5,323,653 (GRCm39) R74H probably damaging Het
Cdk14 A G 5: 5,086,427 (GRCm39) W298R probably damaging Het
Chia1 A G 3: 106,022,641 (GRCm39) N12D probably benign Het
Cibar2 C A 8: 120,901,594 (GRCm39) R37L probably damaging Het
Cyp3a59 A G 5: 146,041,596 (GRCm39) D380G probably benign Het
Dnm2 T C 9: 21,402,600 (GRCm39) probably benign Het
Dnm3 T C 1: 161,819,566 (GRCm39) probably benign Het
Dpp4 A G 2: 62,175,456 (GRCm39) Y660H probably damaging Het
H6pd T G 4: 150,080,215 (GRCm39) Y202S probably damaging Het
Hnrnpa0 T C 13: 58,275,751 (GRCm39) K126R probably benign Het
Insc C T 7: 114,368,290 (GRCm39) probably benign Het
Lrrc45 G A 11: 120,606,047 (GRCm39) probably null Het
Mapkap1 T C 2: 34,509,875 (GRCm39) L263P probably damaging Het
Nmur1 A G 1: 86,315,287 (GRCm39) S160P probably damaging Het
Or4a81 A T 2: 89,619,078 (GRCm39) M206K possibly damaging Het
Or4g7 T A 2: 111,309,757 (GRCm39) C209* probably null Het
Pcdhb15 A G 18: 37,608,565 (GRCm39) N599S probably damaging Het
Pcid2 T C 8: 13,135,421 (GRCm39) D196G probably damaging Het
Pcolce2 T C 9: 95,563,610 (GRCm39) F199L probably damaging Het
Phf11c A T 14: 59,628,384 (GRCm39) N88K possibly damaging Het
Rasa2 A G 9: 96,424,460 (GRCm39) probably benign Het
Samhd1 T C 2: 156,946,813 (GRCm39) D558G probably damaging Het
Slc1a1 T C 19: 28,880,109 (GRCm39) F263S probably benign Het
Slc27a3 G A 3: 90,294,647 (GRCm39) T408M probably damaging Het
Slc4a7 T A 14: 14,757,323 (GRCm38) N520K probably damaging Het
Szt2 A G 4: 118,241,428 (GRCm39) S1679P probably damaging Het
Trmt9b A T 8: 36,965,632 (GRCm39) I51F probably damaging Het
Vmn1r218 T C 13: 23,321,412 (GRCm39) F173S possibly damaging Het
Vmn2r32 T A 7: 7,482,918 (GRCm39) N19Y probably 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
R6107:Prl8a8 UTSW 13 27,695,447 (GRCm39) missense possibly damaging 0.70
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'- TTGTGAAGGTTAAGAAGTTGAAAAGC -3'
(R):5'- GTGTATCCATTACCCCTGTGG -3'

Sequencing Primer
(F):5'- GCTGTCAATTAAGAACAGGGAATAC -3'
(R):5'- GTTCACAGTCAGCTAATGGATGGATC -3'
Posted On 2016-04-21