Incidental Mutation 'IGL01081:Prl'
ID 52541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl
Ensembl Gene ENSMUSG00000021342
Gene Name prolactin
Synonyms Prl1a1, Prl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL01081
Quality Score
Status
Chromosome 13
Chromosomal Location 27241553-27249187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 27249024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 224 (N224K)
Ref Sequence ENSEMBL: ENSMUSP00000153245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018061] [ENSMUST00000110369] [ENSMUST00000224228]
AlphaFold P06879
Predicted Effect possibly damaging
Transcript: ENSMUST00000018061
AA Change: N223K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018061
Gene: ENSMUSG00000021342
AA Change: N223K

DomainStartEndE-ValueType
Pfam:Hormone_1 15 225 1.6e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110369
AA Change: N226K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105998
Gene: ENSMUSG00000021342
AA Change: N226K

DomainStartEndE-ValueType
Pfam:Hormone_1 18 228 4.7e-59 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000224228
AA Change: N224K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224627
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null female mice have irregular oestrus cycles and are infertile. Defects of the pituitary gland include hyperplasia, which progresses to adenoma, and impaired secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,901,890 (GRCm39) L158P probably damaging Het
Aco1 A G 4: 40,197,576 (GRCm39) Q860R probably benign Het
Actl11 A T 9: 107,806,181 (GRCm39) Q168L possibly damaging Het
Adam26b T C 8: 43,972,975 (GRCm39) I676V probably benign Het
Aldoart2 A C 12: 55,612,920 (GRCm39) I282L probably benign Het
Capns1 G T 7: 29,889,565 (GRCm39) S211R probably benign Het
Cps1 T C 1: 67,245,983 (GRCm39) V1158A probably damaging Het
Cryl1 C T 14: 57,523,821 (GRCm39) probably null Het
Cxcr5 A G 9: 44,425,607 (GRCm39) probably benign Het
Dcaf13 A G 15: 38,982,201 (GRCm39) K56E probably damaging Het
Dlx6 T G 6: 6,867,068 (GRCm39) S85A probably damaging Het
Dsg2 C T 18: 20,722,999 (GRCm39) probably benign Het
Dync1li1 T A 9: 114,549,665 (GRCm39) S412T possibly damaging Het
Ebf3 C A 7: 136,827,625 (GRCm39) probably benign Het
Fads3 T C 19: 10,030,366 (GRCm39) I168T probably benign Het
Gm10295 G A 7: 71,000,296 (GRCm39) P95S unknown Het
Gm43638 T C 5: 87,634,455 (GRCm39) T51A probably damaging Het
Gm5114 G A 7: 39,060,071 (GRCm39) probably benign Het
Gucy2c G A 6: 136,679,737 (GRCm39) T974M probably damaging Het
Ighv1-19-1 T C 12: 114,672,258 (GRCm39) probably benign Het
Kri1 A T 9: 21,191,723 (GRCm39) L173Q probably damaging Het
Lztfl1 T C 9: 123,531,338 (GRCm39) D210G probably benign Het
Morc2a T A 11: 3,638,149 (GRCm39) N958K probably damaging Het
Msl3l2 G A 10: 55,992,021 (GRCm39) A249T probably benign Het
Nlrp4a A G 7: 26,149,254 (GRCm39) E287G probably benign Het
Nlrp9a A T 7: 26,257,519 (GRCm39) N290I possibly damaging Het
Or2b28 T G 13: 21,531,185 (GRCm39) L29R probably damaging Het
Or4e2 A G 14: 52,688,484 (GRCm39) T205A probably benign Het
Or5al6 C T 2: 85,976,955 (GRCm39) G41D probably benign Het
Pcsk7 A G 9: 45,840,005 (GRCm39) D731G probably benign Het
Plppr5 T A 3: 117,480,298 (GRCm39) probably benign Het
Podxl T C 6: 31,505,639 (GRCm39) T135A possibly damaging Het
Pole T G 5: 110,485,106 (GRCm39) C407G possibly damaging Het
Prnp A T 2: 131,778,340 (GRCm39) probably benign Het
Proser2 A G 2: 6,105,149 (GRCm39) *472R probably null Het
Rhag T C 17: 41,122,178 (GRCm39) S38P possibly damaging Het
Rnf146 T C 10: 29,223,856 (GRCm39) D10G probably damaging Het
Rps3a1 T C 3: 86,049,085 (GRCm39) D29G probably benign Het
Sv2a A T 3: 96,097,012 (GRCm39) I446F probably benign Het
Tbc1d30 C A 10: 121,103,319 (GRCm39) R571L probably damaging Het
Tfrc T A 16: 32,443,646 (GRCm39) probably null Het
Tnfaip1 G A 11: 78,419,129 (GRCm39) P156S probably damaging Het
Vmn1r226 T C 17: 20,908,166 (GRCm39) S133P probably damaging Het
Wnt9b C T 11: 103,622,836 (GRCm39) R189K probably damaging Het
Ythdc2 A G 18: 44,983,726 (GRCm39) H564R probably benign Het
Zfp442 C A 2: 150,251,267 (GRCm39) E211* probably null Het
Other mutations in Prl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Prl APN 13 27,243,377 (GRCm39) missense probably damaging 1.00
IGL02638:Prl APN 13 27,245,562 (GRCm39) missense probably benign 0.02
IGL03093:Prl APN 13 27,248,870 (GRCm39) missense probably benign 0.04
R0479:Prl UTSW 13 27,248,911 (GRCm39) missense probably damaging 1.00
R1259:Prl UTSW 13 27,245,472 (GRCm39) splice site probably null
R1489:Prl UTSW 13 27,241,619 (GRCm39) missense probably damaging 0.96
R4392:Prl UTSW 13 27,248,334 (GRCm39) missense possibly damaging 0.83
R5183:Prl UTSW 13 27,241,579 (GRCm39) start gained probably benign
R6623:Prl UTSW 13 27,245,492 (GRCm39) missense probably benign 0.01
R6831:Prl UTSW 13 27,243,530 (GRCm39) missense probably benign 0.01
R6860:Prl UTSW 13 27,248,942 (GRCm39) missense possibly damaging 0.89
R8806:Prl UTSW 13 27,243,515 (GRCm39) missense probably damaging 0.98
R9254:Prl UTSW 13 27,243,503 (GRCm39) missense probably damaging 1.00
R9379:Prl UTSW 13 27,243,503 (GRCm39) missense probably damaging 1.00
R9744:Prl UTSW 13 27,248,338 (GRCm39) missense probably benign 0.04
Posted On 2013-06-21