Incidental Mutation 'R6778:Pitx2'
ID 531363
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 044894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6778 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 128993527-129013240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129012392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 254 (P254L)
Ref Sequence ENSEMBL: ENSMUSP00000134692 (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 damaging
Transcript: ENSMUST00000042587
AA Change: P274L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047359
Gene: ENSMUSG00000028023
AA Change: P274L

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 possibly damaging
Transcript: ENSMUST00000106382
AA Change: P221L

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101990
Gene: ENSMUSG00000028023
AA Change: P221L

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 damaging
Transcript: ENSMUST00000172645
AA Change: P254L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134692
Gene: ENSMUSG00000028023
AA Change: P254L

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 benign
Transcript: ENSMUST00000174623
SMART Domains Protein: ENSMUSP00000139328
Gene: ENSMUSG00000028023

DomainStartEndE-ValueType
HOX 92 151 1.37e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174661
AA Change: P267L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133756
Gene: ENSMUSG00000028023
AA Change: P267L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
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. 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T A 10: 61,061,231 (GRCm39) N403Y probably damaging Het
Akap6 A G 12: 53,072,599 (GRCm39) E989G probably damaging Het
Aoc2 A G 11: 101,216,187 (GRCm39) N90S probably damaging Het
Apol9a T C 15: 77,288,533 (GRCm39) Y278C probably benign Het
Casq2 T A 3: 102,035,247 (GRCm39) probably null Het
Ccdc7a T A 8: 129,547,601 (GRCm39) T1284S possibly damaging Het
Dlat A G 9: 50,562,157 (GRCm39) L289P probably damaging Het
Dnah8 C T 17: 30,854,640 (GRCm39) P101S probably benign Het
Dzip3 C A 16: 48,802,446 (GRCm39) A28S probably benign Het
Ffar4 A G 19: 38,102,112 (GRCm39) E249G possibly damaging Het
Fubp3 A T 2: 31,488,685 (GRCm39) K180N possibly damaging Het
Gm7489 T A 15: 53,749,348 (GRCm39) probably benign Het
Ifitm6 A T 7: 140,596,056 (GRCm39) M59K possibly damaging Het
Igkv4-80 A T 6: 68,993,545 (GRCm39) Y115* probably null Het
Igsf21 G T 4: 139,761,959 (GRCm39) R240S probably benign Het
Kank4 A T 4: 98,649,742 (GRCm39) N942K probably benign Het
Man2a1 C A 17: 65,021,630 (GRCm39) T35K possibly damaging Het
Mvk T A 5: 114,590,441 (GRCm39) D193E probably benign Het
Npas2 T A 1: 39,364,381 (GRCm39) M241K possibly damaging Het
Npsr1 T A 9: 24,165,914 (GRCm39) I100N possibly damaging Het
Olfml2b A G 1: 170,472,639 (GRCm39) D50G probably damaging Het
Or10d4c T A 9: 39,558,043 (GRCm39) V7E probably damaging Het
Pcnx1 A G 12: 81,965,645 (GRCm39) D604G probably damaging Het
Rdh10 T C 1: 16,176,408 (GRCm39) F56S probably damaging Het
Rin1 T C 19: 5,104,914 (GRCm39) L647P probably damaging Het
Sgk3 T A 1: 9,956,369 (GRCm39) probably null Het
Sgpp1 A G 12: 75,763,068 (GRCm39) I371T probably benign Het
Slc12a9 T C 5: 137,313,343 (GRCm39) Y872C possibly damaging Het
Spata31f3 T C 4: 42,868,522 (GRCm39) K367R possibly damaging Het
Syne1 A G 10: 5,052,406 (GRCm39) F7487L probably damaging Het
Tars1 T C 15: 11,389,785 (GRCm39) N375S probably benign Het
Tbc1d31 A G 15: 57,801,425 (GRCm39) Y320C probably damaging Het
Tbl1xr1 T A 3: 22,243,946 (GRCm39) F73L probably benign Het
Tmem145 G A 7: 25,010,801 (GRCm39) V378I probably benign Het
Tmprss11d T C 5: 86,457,209 (GRCm39) H150R probably benign Het
Tnc T G 4: 63,913,835 (GRCm39) I1326L probably benign Het
Trpc7 T C 13: 56,952,500 (GRCm39) Y502C probably damaging Het
Usp32 T C 11: 84,916,512 (GRCm39) I811V probably benign Het
Vmn1r71 C T 7: 10,482,143 (GRCm39) A182T probably benign Het
Wdr47 T A 3: 108,540,412 (GRCm39) N602K 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
R6526:Pitx2 UTSW 3 129,008,432 (GRCm39) critical splice donor site probably null
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'- CAGAGTATGTTTTCCCCGCC -3'
(R):5'- AGCACAATTCTCAGTCTTTCTGG -3'

Sequencing Primer
(F):5'- GCCCAACTCCATCTCATCTATG -3'
(R):5'- AGTTGCCCACTCCGACAGTC -3'
Posted On 2018-08-29