Incidental Mutation 'R5360:Pitx1'
ID 424306
Institutional Source Beutler Lab
Gene Symbol Pitx1
Ensembl Gene ENSMUSG00000021506
Gene Name paired-like homeodomain transcription factor 1
Synonyms Ptx1, P-OTX, Potx, Bft
MMRRC Submission 042939-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.830) question?
Stock # R5360 (G1)
Quality Score 216
Status Not validated
Chromosome 13
Chromosomal Location 55972864-55984005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55976291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 123 (I123V)
Ref Sequence ENSEMBL: ENSMUSP00000134609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021968] [ENSMUST00000173618]
AlphaFold P70314
Predicted Effect probably damaging
Transcript: ENSMUST00000021968
AA Change: I123V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021968
Gene: ENSMUSG00000021506
AA Change: I123V

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
HOX 90 152 9.19e-26 SMART
low complexity region 205 232 N/A INTRINSIC
Pfam:OAR 277 295 7.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173618
AA Change: I123V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134609
Gene: ENSMUSG00000021506
AA Change: I123V

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
HOX 90 124 1.3e-1 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants have defects of hindlimbs, pelvis, mandible and submandibular gland, and decreased numbers of anterior pituitary cell types. Some mutants die in utero, but most die at birth, probably as a consequence of cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T A 19: 55,279,592 (GRCm39) Y443* probably null Het
Aox3 C T 1: 58,185,667 (GRCm39) T331M probably damaging Het
Arhgap32 G A 9: 32,170,967 (GRCm39) R1598H probably damaging Het
Atp1a2 A G 1: 172,106,436 (GRCm39) probably null Het
Brpf3 A T 17: 29,029,536 (GRCm39) M499L probably benign Het
Cacnb1 A T 11: 97,909,097 (GRCm39) probably null Het
Cep295 A G 9: 15,238,029 (GRCm39) S1899P probably damaging Het
Cntn2 A G 1: 132,446,595 (GRCm39) Y748H probably damaging Het
Csmd3 T A 15: 47,532,599 (GRCm39) Y2532F probably damaging Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Dsg1a A G 18: 20,474,011 (GRCm39) D1028G probably damaging Het
Eif1ad16 A C 12: 87,985,265 (GRCm39) L93V probably benign Het
Elp1 A T 4: 56,800,104 (GRCm39) H7Q probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gabra5 C T 7: 57,140,533 (GRCm39) G55R probably damaging Het
Gdf9 T A 11: 53,328,034 (GRCm39) F330Y probably benign Het
Gimap8 T C 6: 48,633,236 (GRCm39) S352P probably damaging Het
Gm4952 A T 19: 12,600,993 (GRCm39) H71L probably benign Het
Gnaq G A 19: 16,110,790 (GRCm39) R34H probably benign Het
Hebp2 T C 10: 18,420,055 (GRCm39) D126G probably benign Het
Hectd4 A G 5: 121,453,464 (GRCm39) D601G possibly damaging Het
Hook2 T C 8: 85,728,033 (GRCm39) Y577H probably damaging Het
Igfals A G 17: 25,099,067 (GRCm39) T53A probably benign Het
Igsf9b A G 9: 27,222,968 (GRCm39) D123G probably damaging Het
Ilrun A T 17: 28,013,020 (GRCm39) I59N probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mdm4 A T 1: 132,919,396 (GRCm39) *490K probably null Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Neurl2 C A 2: 164,675,021 (GRCm39) A114S probably damaging Het
Nuggc A G 14: 65,876,075 (GRCm39) T563A probably damaging Het
Or8g32 T G 9: 39,305,698 (GRCm39) F204V probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pdlim1 A T 19: 40,218,993 (GRCm39) S213T probably damaging Het
Pkd1l1 T C 11: 8,829,204 (GRCm39) N1013D probably benign Het
Pla2g2c T A 4: 138,461,656 (GRCm39) Y42N possibly damaging Het
Polr2b G A 5: 77,496,993 (GRCm39) A1168T possibly damaging Het
Ppp2r2a G A 14: 67,254,020 (GRCm39) R383* probably null Het
Prl7a2 C T 13: 27,843,143 (GRCm39) R220H probably benign Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rc3h2 A G 2: 37,279,867 (GRCm39) V454A possibly damaging Het
Robo1 A G 16: 72,732,665 (GRCm39) T307A probably damaging Het
Slc22a6 T C 19: 8,596,786 (GRCm39) L188P probably damaging Het
Spag17 A G 3: 100,016,726 (GRCm39) N2167S probably benign Het
Spag5 G A 11: 78,205,588 (GRCm39) E680K probably damaging Het
Spata6 A G 4: 111,680,026 (GRCm39) Y428C possibly damaging Het
Tbc1d5 T C 17: 51,291,660 (GRCm39) D47G probably benign Het
Trp53 T C 11: 69,479,566 (GRCm39) probably null Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Ttc39b T C 4: 83,180,084 (GRCm39) D103G probably damaging Het
Ttn A C 2: 76,750,322 (GRCm39) W3576G probably benign Het
Yeats2 T A 16: 19,972,912 (GRCm39) M22K probably damaging Het
Other mutations in Pitx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01750:Pitx1 APN 13 55,974,304 (GRCm39) missense probably damaging 1.00
R4492:Pitx1 UTSW 13 55,976,465 (GRCm39) missense probably benign 0.35
R5381:Pitx1 UTSW 13 55,973,892 (GRCm39) missense probably damaging 1.00
R5484:Pitx1 UTSW 13 55,974,166 (GRCm39) missense probably benign 0.01
R6314:Pitx1 UTSW 13 55,974,166 (GRCm39) missense possibly damaging 0.78
R6897:Pitx1 UTSW 13 55,976,335 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAATTCTGACAGAGTTCAGGGC -3'
(R):5'- TACCTGCTGCAGACAAGGAG -3'

Sequencing Primer
(F):5'- AGTAGCTCCTGTGGGACAG -3'
(R):5'- CAGACAAGGAGCGCGGTG -3'
Posted On 2016-08-04