Incidental Mutation 'R5879:Prop1'
ID 455727
Institutional Source Beutler Lab
Gene Symbol Prop1
Ensembl Gene ENSMUSG00000044542
Gene Name paired like homeodomain factor 1
Synonyms Prop-1, prophet of Pit-1, prophet of Pit1
Accession Numbers
Essential gene? Probably essential (E-score: 0.768) question?
Stock # R5879 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 50841633-50844584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50844153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 27 (V27M)
Ref Sequence ENSEMBL: ENSMUSP00000125413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051159] [ENSMUST00000162420]
AlphaFold P97458
Predicted Effect probably benign
Transcript: ENSMUST00000051159
AA Change: V27M

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000057231
Gene: ENSMUSG00000044542
AA Change: V27M

DomainStartEndE-ValueType
HOX 66 128 4.85e-25 SMART
low complexity region 150 168 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159179
Predicted Effect probably damaging
Transcript: ENSMUST00000162420
AA Change: V27M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype 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
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 C T 7: 44,796,930 (GRCm39) W66* probably null Het
Arhgap39 T C 15: 76,636,007 (GRCm39) D76G probably damaging Het
Arhgef2 G A 3: 88,550,924 (GRCm39) probably null Het
C1qtnf2 T C 11: 43,376,835 (GRCm39) M99T probably damaging Het
Cyren A G 6: 34,851,593 (GRCm39) L87P probably damaging Het
Eml3 G A 19: 8,912,379 (GRCm39) C392Y possibly damaging Het
Ephb4 C A 5: 137,358,678 (GRCm39) P287Q probably benign Het
Fat4 G T 3: 38,941,485 (GRCm39) R126L probably benign Het
Flt3 T C 5: 147,271,719 (GRCm39) M858V probably damaging Het
Gprin3 A C 6: 59,331,698 (GRCm39) I203R probably benign Het
Insr G T 8: 3,248,173 (GRCm39) Y457* probably null Het
Ipo13 G A 4: 117,760,400 (GRCm39) T649I possibly damaging Het
Krba1 A G 6: 48,392,678 (GRCm39) D818G possibly damaging Het
Llgl1 G A 11: 60,603,806 (GRCm39) G1016R probably benign Het
Loxl4 A G 19: 42,596,066 (GRCm39) V142A probably benign Het
Mthfd1 A G 12: 76,340,992 (GRCm39) I464V probably benign Het
Mycs C A X: 5,380,131 (GRCm39) K316N probably damaging Het
Ncor2 A G 5: 125,103,839 (GRCm39) probably benign Het
Nlrc3 A G 16: 3,781,909 (GRCm39) F516S probably damaging Het
Oacyl A G 18: 65,882,743 (GRCm39) S540G probably damaging Het
Olfml2a A T 2: 38,850,242 (GRCm39) T653S probably damaging Het
Or8s16 C T 15: 98,211,369 (GRCm39) V21I probably benign Het
Pcnx2 A T 8: 126,500,685 (GRCm39) N1468K probably damaging Het
Plbd1 A G 6: 136,611,503 (GRCm39) I258T probably damaging Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Pramel21 A T 4: 143,344,161 (GRCm39) Y487F possibly damaging Het
Rfx4 T G 10: 84,650,625 (GRCm39) probably null Het
Rgs11 C T 17: 26,422,437 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,595,260 (GRCm39) F541I probably damaging Het
Srgap3 A T 6: 112,699,807 (GRCm39) V1057E possibly damaging Het
Synpo2 A T 3: 122,907,946 (GRCm39) W457R probably damaging Het
Tet2 T A 3: 133,193,721 (GRCm39) N238Y possibly damaging Het
Tiam2 T A 17: 3,487,540 (GRCm39) M687K probably damaging Het
Ticrr A G 7: 79,346,438 (GRCm39) E1866G probably benign Het
Tspan8 T C 10: 115,669,156 (GRCm39) S64P possibly damaging Het
Ugt2b37 C T 5: 87,402,265 (GRCm39) G122D probably benign Het
Uqcrc2 A G 7: 120,237,111 (GRCm39) E53G probably damaging Het
Vcan T C 13: 89,852,071 (GRCm39) D963G probably damaging Het
Vmn2r24 T A 6: 123,764,226 (GRCm39) Y368N possibly damaging Het
Wdr5 A G 2: 27,418,323 (GRCm39) T208A probably benign Het
Zbtb18 A G 1: 177,275,936 (GRCm39) Y423C probably damaging Het
Zc3h6 A G 2: 128,839,696 (GRCm39) probably null Het
Other mutations in Prop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01676:Prop1 APN 11 50,842,956 (GRCm39) missense probably damaging 1.00
IGL02192:Prop1 APN 11 50,844,113 (GRCm39) splice site probably benign
IGL02219:Prop1 APN 11 50,842,911 (GRCm39) missense probably damaging 1.00
IGL02551:Prop1 APN 11 50,841,773 (GRCm39) missense possibly damaging 0.83
R1642:Prop1 UTSW 11 50,844,152 (GRCm39) missense possibly damaging 0.46
R4909:Prop1 UTSW 11 50,842,872 (GRCm39) missense probably damaging 1.00
R4909:Prop1 UTSW 11 50,842,863 (GRCm39) frame shift probably null
R5743:Prop1 UTSW 11 50,841,836 (GRCm39) missense probably damaging 1.00
R6324:Prop1 UTSW 11 50,843,026 (GRCm39) missense probably benign 0.03
R6721:Prop1 UTSW 11 50,844,213 (GRCm39) missense probably benign 0.27
R7162:Prop1 UTSW 11 50,842,881 (GRCm39) missense probably damaging 0.99
R8995:Prop1 UTSW 11 50,841,887 (GRCm39) missense possibly damaging 0.94
R9049:Prop1 UTSW 11 50,842,948 (GRCm39) missense probably damaging 0.99
R9132:Prop1 UTSW 11 50,843,037 (GRCm39) missense
RF005:Prop1 UTSW 11 50,841,957 (GRCm39) missense possibly damaging 0.69
RF024:Prop1 UTSW 11 50,841,957 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- GGTCCCCAAAGCTCCAATTC -3'
(R):5'- AACTGTGAGAAAACAGGTATCTAGC -3'

Sequencing Primer
(F):5'- AAGCTCCAATTCTGCTTTCCAC -3'
(R):5'- CACAGAGCAAGGGACAGACTC -3'
Posted On 2017-02-10