|Institutional Source||Beutler Lab|
|Gene Name||paired like homeodomain factor 1|
|Synonyms||Prop-1, prophet of Pit1, prophet of Pit-1|
|Is this an essential gene?||Probably essential (E-score: 0.760)|
|Stock #||R5743 (G1)|
|Chromosomal Location||50950806-50953765 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 50951009 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 190 (D190G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057231 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051159] [ENSMUST00000162420]|
|Predicted Effect||probably damaging
AA Change: D190G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D190G
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe proportional dwarfism, hypothyroidism, and sterility. Mutants fail to develop the anterior pituitary cells that secrete growth hormone, prolactin, and thyroid stimulating hormone. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prop1||
(F):5'- TTCCAATCTTGAACTGCACACC -3'
(R):5'- TAGCCCATCTATCTACGGCC -3'
(F):5'- TCTAGGTTCACCCTTAGGAGG -3'
(R):5'- ACGGCCACCTTCTCTGG -3'