Incidental Mutation 'H8930:Prl3c1'
ID 539
Institutional Source Beutler Lab
Gene Symbol Prl3c1
Ensembl Gene ENSMUSG00000017922
Gene Name prolactin family 3, subfamily c, member 1
Synonyms Prlpj, PLP I, PLP-J
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # H8930 (G3) of strain frazz
Quality Score
Status Validated
Chromosome 13
Chromosomal Location 27380643-27387732 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 27384689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 46 (L46*)
Ref Sequence ENSEMBL: ENSMUSP00000136890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018066] [ENSMUST00000110364] [ENSMUST00000178072]
AlphaFold Q9QUN5
Predicted Effect probably null
Transcript: ENSMUST00000018066
AA Change: L66*
SMART Domains Protein: ENSMUSP00000018066
Gene: ENSMUSG00000017922
AA Change: L66*

DomainStartEndE-ValueType
Pfam:Hormone_1 16 212 1.5e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110364
AA Change: L46*
SMART Domains Protein: ENSMUSP00000105993
Gene: ENSMUSG00000017922
AA Change: L46*

DomainStartEndE-ValueType
Pfam:Hormone_1 2 192 2.9e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000178072
AA Change: L46*
SMART Domains Protein: ENSMUSP00000136890
Gene: ENSMUSG00000017922
AA Change: L46*

DomainStartEndE-ValueType
Pfam:Hormone_1 2 192 2.9e-31 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 77.1%
  • 3x: 50.6%
Het Detection Efficiency 25.5%
Validation Efficiency 74% (89/120)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female fertility and a male reproductive tract phenotype that includes enlarged testes and seminal vesicles, increased sperm count, increased serum testosterone and luteinizing hormone levels, and abnormal adult Leydig cell differentiation. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc20b A T 13: 113,220,500 (GRCm39) I460F probably damaging Homo
Cilk1 T A 9: 78,057,901 (GRCm39) I150N possibly damaging Het
Ddx4 A C 13: 112,750,367 (GRCm39) probably null Homo
Malt1 T G 18: 65,595,886 (GRCm39) Y442* probably null Het
Mtr A G 13: 12,250,346 (GRCm39) S346P probably damaging Het
Nup155 T C 15: 8,187,142 (GRCm39) V1357A possibly damaging Het
Spata1 A T 3: 146,193,026 (GRCm39) L155* probably null Homo
Other mutations in Prl3c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Prl3c1 APN 13 27,384,746 (GRCm39) missense probably damaging 0.97
IGL00567:Prl3c1 APN 13 27,384,695 (GRCm39) missense possibly damaging 0.82
IGL01105:Prl3c1 APN 13 27,386,408 (GRCm39) missense probably benign 0.04
IGL02985:Prl3c1 APN 13 27,383,370 (GRCm39) missense probably damaging 0.99
IGL03013:Prl3c1 APN 13 27,383,349 (GRCm39) missense probably benign 0.01
G1Funyon:Prl3c1 UTSW 13 27,383,168 (GRCm39) unclassified probably benign
R0437:Prl3c1 UTSW 13 27,383,447 (GRCm39) missense probably benign 0.09
R0630:Prl3c1 UTSW 13 27,384,674 (GRCm39) splice site probably benign
R1277:Prl3c1 UTSW 13 27,387,555 (GRCm39) missense probably damaging 1.00
R2064:Prl3c1 UTSW 13 27,380,720 (GRCm39) critical splice donor site probably null
R2121:Prl3c1 UTSW 13 27,383,325 (GRCm39) splice site probably null
R4752:Prl3c1 UTSW 13 27,387,508 (GRCm39) missense probably benign 0.11
R4959:Prl3c1 UTSW 13 27,386,471 (GRCm39) splice site probably null
R5863:Prl3c1 UTSW 13 27,387,593 (GRCm39) makesense probably null
R7912:Prl3c1 UTSW 13 27,383,367 (GRCm39) missense probably benign 0.02
R7913:Prl3c1 UTSW 13 27,383,393 (GRCm39) missense probably benign 0.00
R8157:Prl3c1 UTSW 13 27,383,330 (GRCm39) missense probably damaging 1.00
R8301:Prl3c1 UTSW 13 27,383,168 (GRCm39) unclassified probably benign
R8352:Prl3c1 UTSW 13 27,386,385 (GRCm39) missense probably benign 0.01
R8452:Prl3c1 UTSW 13 27,386,385 (GRCm39) missense probably benign 0.01
R8898:Prl3c1 UTSW 13 27,387,578 (GRCm39) missense possibly damaging 0.93
Z1177:Prl3c1 UTSW 13 27,387,484 (GRCm39) missense possibly damaging 0.86
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 243 of the Prl3c1 transcript using Genbank record NM_013766 in exon 4 of 6 total exons. Two transcripts of the Prl3c1 gene are displayed on Ensembl and Vega. The mutated nucleotide introduces a premature stop codon at leucine 66 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction

The Prl3c1 gene encodes a 212 amino acid protein that belongs to the somatotropin/prolactin family. The protein is expressed specifically in maternal decidua (Uniprot Q9QUN5). Isoform 2 contains 192 amino acids and has a shorter N-terminus.

The premature stop introduced by the Frazz mutation in the Prl3c1 gene truncates 147 amino acids from the C-terminus of the protein. This allele is likely null.

Posted On 2010-11-11