Incidental Mutation 'R6114:Pitx2'
ID 485002
Institutional Source Beutler Lab
Gene Symbol Pitx2
Ensembl Gene ENSMUSG00000028023
Gene Name paired-like homeodomain transcription factor 2
Synonyms solurshin, Brx1, Pitx2c, Otlx2, Munc30, Ptx2, Pitx2a, Brx1b, Brx1a, Rieg, Pitx2b
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6114 (G1)
Quality Score 82.0076
Status Validated
Chromosome 3
Chromosomal Location 128993527-129013240 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to G at 128998062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029657] [ENSMUST00000106382] [ENSMUST00000172645] [ENSMUST00000173645] [ENSMUST00000174661]
AlphaFold P97474
Predicted Effect probably null
Transcript: ENSMUST00000029657
Predicted Effect probably benign
Transcript: ENSMUST00000106382
SMART Domains Protein: ENSMUSP00000101990
Gene: ENSMUSG00000028023

DomainStartEndE-ValueType
HOX 39 101 6.5e-26 SMART
low complexity region 160 183 N/A INTRINSIC
low complexity region 191 209 N/A INTRINSIC
low complexity region 210 227 N/A INTRINSIC
Pfam:OAR 228 248 2.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172645
SMART Domains Protein: ENSMUSP00000134692
Gene: ENSMUSG00000028023

DomainStartEndE-ValueType
HOX 72 134 6.5e-26 SMART
low complexity region 193 216 N/A INTRINSIC
low complexity region 224 242 N/A INTRINSIC
low complexity region 243 260 N/A INTRINSIC
Pfam:OAR 262 280 9.5e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173645
Predicted Effect probably null
Transcript: ENSMUST00000174661
SMART Domains Protein: ENSMUSP00000133756
Gene: ENSMUSG00000028023

DomainStartEndE-ValueType
HOX 85 147 6.5e-26 SMART
low complexity region 206 229 N/A INTRINSIC
low complexity region 237 255 N/A INTRINSIC
low complexity region 256 273 N/A INTRINSIC
Pfam:OAR 274 294 1.8e-12 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
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. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations show failed ventral body wall closure, right pulmonary isomerism, septal and valve defects, absent ocular muscles, arrested pituitary and tooth development, optic nerve, mandible and maxilla defects, and embryonic death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably damaging Het
Other mutations in Pitx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Pitx2 APN 3 129,008,413 (GRCm39) missense probably damaging 0.99
IGL02110:Pitx2 APN 3 129,012,466 (GRCm39) missense probably damaging 0.99
Chihuahua UTSW 3 129,009,489 (GRCm39) missense probably damaging 1.00
milly UTSW 3 129,012,223 (GRCm39) missense probably damaging 1.00
R0014:Pitx2 UTSW 3 129,012,148 (GRCm39) missense possibly damaging 0.70
R1083:Pitx2 UTSW 3 129,012,418 (GRCm39) missense probably damaging 1.00
R1474:Pitx2 UTSW 3 129,012,488 (GRCm39) missense probably damaging 1.00
R1789:Pitx2 UTSW 3 129,012,403 (GRCm39) missense probably damaging 1.00
R1945:Pitx2 UTSW 3 129,012,185 (GRCm39) missense probably damaging 1.00
R5305:Pitx2 UTSW 3 129,009,489 (GRCm39) missense probably damaging 1.00
R5950:Pitx2 UTSW 3 129,012,169 (GRCm39) missense probably damaging 1.00
R6189:Pitx2 UTSW 3 129,012,118 (GRCm39) missense probably damaging 1.00
R6192:Pitx2 UTSW 3 129,009,521 (GRCm39) missense probably benign 0.09
R6226:Pitx2 UTSW 3 129,009,491 (GRCm39) missense probably damaging 1.00
R6526:Pitx2 UTSW 3 129,008,432 (GRCm39) critical splice donor site probably null
R6778:Pitx2 UTSW 3 129,012,392 (GRCm39) missense probably damaging 1.00
R6885:Pitx2 UTSW 3 129,012,257 (GRCm39) missense probably damaging 1.00
R7575:Pitx2 UTSW 3 129,009,375 (GRCm39) missense probably damaging 1.00
R8390:Pitx2 UTSW 3 129,012,507 (GRCm39) missense probably damaging 0.96
R8766:Pitx2 UTSW 3 129,012,223 (GRCm39) missense probably damaging 1.00
R9021:Pitx2 UTSW 3 129,008,432 (GRCm39) critical splice donor site probably null
R9236:Pitx2 UTSW 3 129,009,345 (GRCm39) missense probably damaging 1.00
R9744:Pitx2 UTSW 3 129,009,467 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGATCACTGCCCTCACTG -3'
(R):5'- TAAGTTCTGCAGCAGGGGAC -3'

Sequencing Primer
(F):5'- TCACTGGGTTGCCAAGGG -3'
(R):5'- AGGGGACACCGGCTTTG -3'
Posted On 2017-08-16