Incidental Mutation 'R9744:Prl'
ID 731995
Institutional Source Beutler Lab
Gene Symbol Prl
Ensembl Gene ENSMUSG00000021342
Gene Name prolactin
Synonyms Prl1a1, Prl
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R9744 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 27241553-27249187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27248338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 135 (Q135L)
Ref Sequence ENSEMBL: ENSMUSP00000105998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018061] [ENSMUST00000110369] [ENSMUST00000224228]
AlphaFold P06879
Predicted Effect probably benign
Transcript: ENSMUST00000018061
AA Change: Q132L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000018061
Gene: ENSMUSG00000021342
AA Change: Q132L

DomainStartEndE-ValueType
Pfam:Hormone_1 15 225 1.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110369
AA Change: Q135L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105998
Gene: ENSMUSG00000021342
AA Change: Q135L

DomainStartEndE-ValueType
Pfam:Hormone_1 18 228 4.7e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224228
AA Change: Q133L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.5%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,742,583 (GRCm39) M677L probably benign Het
Ankrd24 T G 10: 81,482,951 (GRCm39) D966E possibly damaging Het
Arhgef28 A G 13: 98,094,261 (GRCm39) L961P probably damaging Het
Atxn1 G A 13: 45,721,299 (GRCm39) Q199* probably null Het
Bcl2a1c G A 9: 114,159,341 (GRCm39) V40I probably benign Het
Cep41 A G 6: 30,656,603 (GRCm39) V283A probably benign Het
Cerk A G 15: 86,033,491 (GRCm39) Y311H probably damaging Het
Ciz1 A T 2: 32,253,859 (GRCm39) Q13L unknown Het
Cpeb2 T C 5: 43,391,268 (GRCm39) S155P Het
Dmbx1 T A 4: 115,777,262 (GRCm39) E200D probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Erc1 T C 6: 119,720,360 (GRCm39) Y747C probably damaging Het
Fhad1 T C 4: 141,637,124 (GRCm39) E1114G probably damaging Het
Fndc3a C A 14: 72,777,693 (GRCm39) E1171* probably null Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gys2 A C 6: 142,394,187 (GRCm39) D450E probably benign Het
Hmcn1 A T 1: 150,623,941 (GRCm39) I1120N probably damaging Het
Ints3 G T 3: 90,318,605 (GRCm39) T210K probably damaging Het
Itih5 T C 2: 10,256,221 (GRCm39) Y896H probably damaging Het
Kcna7 A G 7: 45,056,402 (GRCm39) D206G probably benign Het
Klhl10 T A 11: 100,336,396 (GRCm39) C128S probably damaging Het
Klhl5 T C 5: 65,320,255 (GRCm39) V603A probably damaging Het
Mapk15 T A 15: 75,869,912 (GRCm39) I344N possibly damaging Het
Mdn1 T C 4: 32,715,711 (GRCm39) F1993L possibly damaging Het
Myo1c T C 11: 75,562,797 (GRCm39) L959P probably damaging Het
Nectin1 A G 9: 43,715,240 (GRCm39) Q492R probably damaging Het
Nlrp14 A T 7: 106,796,987 (GRCm39) L951F probably damaging Het
Nlrp5 T G 7: 23,120,902 (GRCm39) S705R possibly damaging Het
Nlrp9a A G 7: 26,267,266 (GRCm39) Y787C probably benign Het
Npsr1 A G 9: 24,201,182 (GRCm39) T189A probably benign Het
Nup205 T C 6: 35,209,510 (GRCm39) Y1606H probably damaging Het
Or2w4 A G 13: 21,795,827 (GRCm39) F104S possibly damaging Het
Or4k48 C A 2: 111,475,664 (GRCm39) R226L probably benign Het
Or6z5 A T 7: 6,477,210 (GRCm39) I34L probably benign Het
Pitx2 A T 3: 129,009,467 (GRCm39) T129S probably damaging Het
Pla2g2c T C 4: 138,470,972 (GRCm39) S118P probably damaging Het
Polr1a A G 6: 71,906,372 (GRCm39) N396S probably benign Het
Prrc2c A G 1: 162,505,733 (GRCm39) L2555P possibly damaging Het
Psg29 A T 7: 16,944,495 (GRCm39) D335V probably benign Het
Psme4 T C 11: 30,765,294 (GRCm39) probably null Het
Ramp2 T A 11: 101,137,913 (GRCm39) S52T unknown Het
Skint6 C T 4: 112,666,360 (GRCm39) G1155D probably damaging Het
Sorcs1 G A 19: 50,215,275 (GRCm39) R655C probably damaging Het
Syne1 A G 10: 5,274,184 (GRCm39) C1867R probably benign Het
Tcf21 T C 10: 22,695,726 (GRCm39) D26G probably benign Het
Tmem132a G A 19: 10,840,678 (GRCm39) P418L probably damaging Het
Tob1 C T 11: 94,105,054 (GRCm39) R197C probably damaging Het
Vmn2r110 A G 17: 20,794,848 (GRCm39) V607A probably damaging Het
Vmn2r30 A G 7: 7,315,284 (GRCm39) S850P possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTCTTCAGCCTCTATGAACAAAACC -3'
(R):5'- GTATCACAGGAGATCGGGTG -3'

Sequencing Primer
(F):5'- AACCCACGTCTAACTAACTCTGTTG -3'
(R):5'- ACAGGAGATCGGGTGCTTGC -3'
Posted On 2022-11-14