Incidental Mutation 'R6526:Pitx2'
ID 521812
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 044652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6526 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 128993527-129013240 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 129008432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029657] [ENSMUST00000042587] [ENSMUST00000106382] [ENSMUST00000172645] [ENSMUST00000174623] [ENSMUST00000174661]
AlphaFold P97474
Predicted Effect probably benign
Transcript: ENSMUST00000029657
Predicted Effect probably null
Transcript: ENSMUST00000042587
SMART Domains Protein: ENSMUSP00000047359
Gene: ENSMUSG00000028023

DomainStartEndE-ValueType
HOX 92 154 6.5e-26 SMART
low complexity region 213 236 N/A INTRINSIC
low complexity region 244 262 N/A INTRINSIC
low complexity region 263 280 N/A INTRINSIC
Pfam:OAR 282 300 4.9e-11 PFAM
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: ENSMUST00000174623
SMART Domains Protein: ENSMUSP00000139328
Gene: ENSMUSG00000028023

DomainStartEndE-ValueType
HOX 92 151 1.37e-10 SMART
Predicted Effect probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184283
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,331 (GRCm39) probably null Het
Abcc3 C T 11: 94,250,198 (GRCm39) G975D probably benign Het
Abhd13 G A 8: 10,037,777 (GRCm39) G125S probably damaging Het
Ache T A 5: 137,288,906 (GRCm39) L204Q probably damaging Het
Acnat2 A G 4: 49,383,497 (GRCm39) S19P probably benign Het
Adprh A G 16: 38,267,638 (GRCm39) Y216H probably benign Het
Anapc1 T A 2: 128,514,055 (GRCm39) K429* probably null Het
Anxa13 T C 15: 58,208,353 (GRCm39) noncoding transcript Het
Aprt A C 8: 123,303,555 (GRCm39) L6W probably damaging Het
Arhgef15 T C 11: 68,840,820 (GRCm39) T569A probably damaging Het
Atp11a T C 8: 12,914,999 (GRCm39) L1139P probably benign Het
Atp2b4 A G 1: 133,639,467 (GRCm39) S1136P probably damaging Het
B9d1 T A 11: 61,399,923 (GRCm39) Y90* probably null Het
Btla G A 16: 45,059,457 (GRCm39) A54T probably damaging Het
Cd63 T C 10: 128,747,358 (GRCm39) V35A probably benign Het
Chek2 T C 5: 110,996,556 (GRCm39) F173L probably damaging Het
Cntnap3 T A 13: 64,929,702 (GRCm39) N499I possibly damaging Het
Cog4 T C 8: 111,608,418 (GRCm39) L738P probably damaging Het
Cops6 T C 5: 138,162,162 (GRCm39) probably null Het
Cpeb1 T A 7: 81,011,417 (GRCm39) I175F probably benign Het
Cyp3a16 C T 5: 145,392,705 (GRCm39) D174N probably benign Het
Dnah6 T G 6: 73,051,687 (GRCm39) I2984L probably benign Het
Dock10 A T 1: 80,564,068 (GRCm39) I540N probably damaging Het
Elf5 A G 2: 103,269,578 (GRCm39) Y53C probably damaging Het
Elmod2 T C 8: 84,046,086 (GRCm39) T164A probably damaging Het
Elp1 T C 4: 56,798,812 (GRCm39) probably null Het
Epn3 A G 11: 94,385,758 (GRCm39) probably null Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Gm11115 T A 5: 88,301,909 (GRCm39) probably null Het
Golga3 T A 5: 110,352,761 (GRCm39) I884N probably damaging Het
Gria2 A T 3: 80,599,776 (GRCm39) F703I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtpbp2 A T 17: 46,475,037 (GRCm39) probably null Het
Herc2 T C 7: 55,807,078 (GRCm39) S2419P probably damaging Het
Inpp5d T C 1: 87,603,972 (GRCm39) probably benign Het
Kdm2b C A 5: 123,099,532 (GRCm39) V136F probably damaging Het
Klra2 T A 6: 131,198,839 (GRCm39) D234V probably benign Het
Lct A T 1: 128,228,215 (GRCm39) S1093T probably benign Het
Marchf9 A G 10: 126,892,558 (GRCm39) L310P probably benign Het
Morc1 G T 16: 48,407,487 (GRCm39) E668* probably null Het
Nbas A T 12: 13,455,426 (GRCm39) L1213F probably damaging Het
Neto1 A G 18: 86,516,873 (GRCm39) T397A possibly damaging Het
Oit3 A G 10: 59,265,462 (GRCm39) C268R probably damaging Het
Or5p55 A G 7: 107,566,669 (GRCm39) T22A probably benign Het
Pcx T C 19: 4,654,523 (GRCm39) F312L probably benign Het
Pkhd1l1 G A 15: 44,361,485 (GRCm39) probably null Het
Polr1a C A 6: 71,906,427 (GRCm39) D414E possibly damaging Het
Pramel27 A G 4: 143,579,384 (GRCm39) D323G probably damaging Het
Prkch T C 12: 73,749,549 (GRCm39) Y381H probably damaging Het
Ptger3 T A 3: 157,273,139 (GRCm39) V162E probably damaging Het
Ptgr2 T G 12: 84,360,726 (GRCm39) M332R probably damaging Het
Ptprq G T 10: 107,378,514 (GRCm39) S2009* probably null Het
Pwwp3a A G 10: 80,068,113 (GRCm39) T86A probably benign Het
Rangrf C T 11: 68,864,514 (GRCm39) G11R probably damaging Het
Rbl2 A T 8: 91,823,467 (GRCm39) Q465L probably benign Het
Rhbdd1 A T 1: 82,318,380 (GRCm39) M88L probably benign Het
Setd2 G A 9: 110,361,785 (GRCm39) M13I probably benign Het
Sirpb1a T C 3: 15,444,080 (GRCm39) Y384C probably damaging Het
Slc13a1 C T 6: 24,097,611 (GRCm39) G439S probably damaging Het
Slc41a1 T A 1: 131,768,887 (GRCm39) I239N probably damaging Het
Slit2 T A 5: 48,461,509 (GRCm39) C1502S probably damaging Het
Slit3 G A 11: 35,552,119 (GRCm39) E888K probably benign Het
Srrm3 G T 5: 135,864,088 (GRCm39) R62L probably damaging Het
Synm A G 7: 67,385,331 (GRCm39) V777A possibly damaging Het
Trmt13 T A 3: 116,385,864 (GRCm39) N31I probably damaging Het
Trpm8 G A 1: 88,289,720 (GRCm39) E893K probably damaging Het
Uqcc1 A G 2: 155,693,343 (GRCm39) F197S probably damaging Het
Vmn1r67 T A 7: 10,181,598 (GRCm39) N287K probably benign Het
Vmn2r44 A T 7: 8,381,098 (GRCm39) M265K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xdh C A 17: 74,207,546 (GRCm39) C937F probably damaging Het
Zfp846 T A 9: 20,505,167 (GRCm39) N342K probably benign 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
R6114:Pitx2 UTSW 3 128,998,062 (GRCm39) splice site probably null
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
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'- TGAACTGCATGAAAGGCCCG -3'
(R):5'- TCCGTGACCCAAGAAACTG -3'

Sequencing Primer
(F):5'- TGCCCTTGGAGCACCGAG -3'
(R):5'- ACCAAGGTAGACTCGGCG -3'
Posted On 2018-06-06