Incidental Mutation 'IGL03093:Prl'
ID 418472
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: 0.235) question?
Stock # IGL03093
Quality Score
Status
Chromosome 13
Chromosomal Location 27241553-27249187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27248870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 172 (I172N)
Ref Sequence ENSEMBL: ENSMUSP00000018061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018061] [ENSMUST00000110369] [ENSMUST00000224228]
AlphaFold P06879
Predicted Effect probably benign
Transcript: ENSMUST00000018061
AA Change: I172N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000018061
Gene: ENSMUSG00000021342
AA Change: I172N

DomainStartEndE-ValueType
Pfam:Hormone_1 15 225 1.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110369
AA Change: I175N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000105998
Gene: ENSMUSG00000021342
AA Change: I175N

DomainStartEndE-ValueType
Pfam:Hormone_1 18 228 4.7e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224228
AA Change: I173N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,219,638 (GRCm39) D121G probably damaging Het
Cacna1s A G 1: 136,043,802 (GRCm39) D1380G probably benign Het
Clca3a1 T C 3: 144,453,262 (GRCm39) Y487C probably damaging Het
Coro2a A G 4: 46,544,158 (GRCm39) S278P possibly damaging Het
Creb3l3 A G 10: 80,927,047 (GRCm39) S128P probably benign Het
Dab2 A G 15: 6,465,892 (GRCm39) R697G probably damaging Het
Erap1 T C 13: 74,823,399 (GRCm39) F811S probably benign Het
Fam170b A G 14: 32,557,482 (GRCm39) S106G probably damaging Het
Galk2 T C 2: 125,771,563 (GRCm39) L196P probably damaging Het
Gan T C 8: 117,910,314 (GRCm39) M81T probably benign Het
Gemin2 A G 12: 59,068,511 (GRCm39) T197A probably benign Het
Hemgn A T 4: 46,396,504 (GRCm39) M244K probably benign Het
Htr6 A G 4: 138,789,080 (GRCm39) F325S probably damaging Het
Igkv9-120 A G 6: 68,027,398 (GRCm39) D104G probably damaging Het
Itpr2 A C 6: 146,281,008 (GRCm39) I216S probably damaging Het
Lingo1 T C 9: 56,526,748 (GRCm39) I614V possibly damaging Het
Mep1b C T 18: 21,226,710 (GRCm39) T524M probably benign Het
Mtif2 A G 11: 29,480,702 (GRCm39) probably benign Het
Mylk G A 16: 34,732,562 (GRCm39) R614H possibly damaging Het
Or2ag2 T C 7: 106,485,410 (GRCm39) T205A probably benign Het
Or52s19 T C 7: 103,007,446 (GRCm39) probably benign Het
Pabpc4 G A 4: 123,180,502 (GRCm39) D75N probably damaging Het
Paics T A 5: 77,109,355 (GRCm39) probably null Het
Ripk2 A G 4: 16,152,056 (GRCm39) S168P probably damaging Het
Siglecf T C 7: 43,001,865 (GRCm39) V225A probably damaging Het
Slc36a1 A G 11: 55,110,430 (GRCm39) I86V probably benign Het
Slc6a13 A G 6: 121,309,407 (GRCm39) Y306C probably damaging Het
Soat2 T A 15: 102,066,078 (GRCm39) L250Q probably damaging Het
Tex38 A G 4: 115,637,762 (GRCm39) S14P probably damaging Het
Tm2d1 A T 4: 98,268,921 (GRCm39) C59S possibly damaging Het
Tmco1 A G 1: 167,143,848 (GRCm39) D82G probably damaging Het
Tmem245 G A 4: 56,886,019 (GRCm39) R866W probably damaging Het
Tnip1 G T 11: 54,831,652 (GRCm39) Y7* probably null Het
Trp73 A G 4: 154,189,330 (GRCm39) M48T probably benign Het
Tslp T C 18: 32,948,612 (GRCm39) probably benign Het
Usp47 T C 7: 111,688,827 (GRCm39) F745L probably damaging Het
Vmn2r53 T A 7: 12,334,791 (GRCm39) T290S probably benign Het
Wdr1 T C 5: 38,718,472 (GRCm39) D30G probably benign Het
Zkscan2 T C 7: 123,094,073 (GRCm39) Y247C probably benign Het
Other mutations in Prl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Prl APN 13 27,249,024 (GRCm39) missense possibly damaging 0.93
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
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 2016-08-02