Incidental Mutation 'IGL02985:Prl3c1'
ID406685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl3c1
Ensembl Gene ENSMUSG00000017922
Gene Nameprolactin family 3, subfamily c, member 1
SynonymsPrlpj, PLP-J, PLP I
Accession Numbers

Genbank: NM_013766, NM_001163218

Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02985
Quality Score
Status
Chromosome13
Chromosomal Location27196659-27203749 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 27199387 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 12 (Y12F)
Ref Sequence ENSEMBL: ENSMUSP00000136890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018066] [ENSMUST00000110364] [ENSMUST00000178072]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018066
AA Change: Y32F

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018066
Gene: ENSMUSG00000017922
AA Change: Y32F

DomainStartEndE-ValueType
Pfam:Hormone_1 16 212 1.5e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110364
AA Change: Y12F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105993
Gene: ENSMUSG00000017922
AA Change: Y12F

DomainStartEndE-ValueType
Pfam:Hormone_1 2 192 2.9e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178072
AA Change: Y12F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136890
Gene: ENSMUSG00000017922
AA Change: Y12F

DomainStartEndE-ValueType
Pfam:Hormone_1 2 192 2.9e-31 PFAM
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,958,757 L1862S probably damaging Het
Actc1 T C 2: 114,048,160 E318G probably damaging Het
Birc6 T C 17: 74,640,190 V2968A probably benign Het
Csgalnact1 A G 8: 68,461,043 V170A probably benign Het
Dph1 A G 11: 75,183,593 V131A possibly damaging Het
Galr1 A T 18: 82,393,730 M337K probably benign Het
Gm14214 G T 2: 154,769,454 T160N probably benign Het
Gpatch8 G T 11: 102,481,510 H401N unknown Het
Higd1a A G 9: 121,852,530 F20L probably benign Het
Hmcn1 A T 1: 150,671,917 I2761K probably damaging Het
Hspg2 T A 4: 137,507,803 Y83N probably damaging Het
Ilvbl C T 10: 78,579,067 P255S probably benign Het
Kpna2 T C 11: 106,989,337 Y495C probably benign Het
Krt36 G T 11: 100,103,179 Q327K probably benign Het
Lrrc34 T C 3: 30,636,295 M153V probably benign Het
Maats1 T A 16: 38,298,272 I722F probably damaging Het
Map9 A T 3: 82,359,902 R30* probably null Het
Mcf2l A G 8: 12,963,239 Y48C probably damaging Het
Mfsd13b T A 7: 121,000,172 I397K probably damaging Het
Mpp7 C A 18: 7,461,637 probably null Het
Mrgprx2 C T 7: 48,482,497 C191Y probably damaging Het
Olfr48 A T 2: 89,844,340 I211N possibly damaging Het
Pabpc4l A G 3: 46,446,582 V209A possibly damaging Het
Pde7a T A 3: 19,310,883 H40L probably damaging Het
Phactr3 T C 2: 178,175,457 V22A probably benign Het
Plcl2 G T 17: 50,687,814 E1104* probably null Het
Ppp2cb A G 8: 33,615,446 probably benign Het
Prune2 T C 19: 17,016,359 probably null Het
Rfesd T C 13: 76,008,212 D25G probably damaging Het
Rxfp1 C A 3: 79,652,226 M429I possibly damaging Het
Tmf1 A G 6: 97,176,809 L101P probably damaging Het
Ube2d2b T C 5: 107,830,797 S105P probably damaging Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Zfp518a C T 19: 40,913,667 T680I possibly damaging Het
Other mutations in Prl3c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Prl3c1 APN 13 27200763 missense probably damaging 0.97
IGL00567:Prl3c1 APN 13 27200712 missense possibly damaging 0.82
IGL01105:Prl3c1 APN 13 27202425 missense probably benign 0.04
IGL03013:Prl3c1 APN 13 27199366 missense probably benign 0.01
H8930:Prl3c1 UTSW 13 27200706 nonsense probably null
R0437:Prl3c1 UTSW 13 27199464 missense probably benign 0.09
R0630:Prl3c1 UTSW 13 27200691 splice site probably benign
R1277:Prl3c1 UTSW 13 27203572 missense probably damaging 1.00
R2064:Prl3c1 UTSW 13 27196737 critical splice donor site probably null
R2121:Prl3c1 UTSW 13 27199342 unclassified probably null
R4752:Prl3c1 UTSW 13 27203525 missense probably benign 0.11
R4959:Prl3c1 UTSW 13 27202488 splice site probably null
R5863:Prl3c1 UTSW 13 27203610 makesense probably null
R7912:Prl3c1 UTSW 13 27199384 missense probably benign 0.02
R7913:Prl3c1 UTSW 13 27199410 missense probably benign 0.00
R7993:Prl3c1 UTSW 13 27199384 missense probably benign 0.02
R7994:Prl3c1 UTSW 13 27199410 missense probably benign 0.00
Z1177:Prl3c1 UTSW 13 27203501 missense possibly damaging 0.86
Posted On2016-08-02