Incidental Mutation 'R8390:Pitx2'
| ID |
647315 |
| 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 |
067755-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8390 (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 A
at 129012507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 312
(N312K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047359
(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: N312K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047359
Gene: ENSMUSG00000028023
AA Change: N312K
| Domain | Start | End | E-Value | Type |
|---|
|
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: N259K
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101990
Gene: ENSMUSG00000028023
AA Change: N259K
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000172645
AA Change: N292K
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134692
Gene: ENSMUSG00000028023
AA Change: N292K
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
92 |
151 |
1.37e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174661
AA Change: N305K
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133756
Gene: ENSMUSG00000028023
AA Change: N305K
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
T |
5: 113,830,841 (GRCm39) |
F50I |
unknown |
Het |
| Abca9 |
A |
T |
11: 110,036,456 (GRCm39) |
M551K |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,914,057 (GRCm39) |
S1145P |
probably damaging |
Het |
| Brix1 |
C |
T |
15: 10,485,954 (GRCm39) |
R9H |
probably benign |
Het |
| C1d |
T |
C |
11: 17,213,993 (GRCm39) |
V83A |
probably damaging |
Het |
| Ciz1 |
G |
T |
2: 32,257,335 (GRCm39) |
V127L |
probably benign |
Het |
| Csnk1g3 |
A |
T |
18: 54,081,150 (GRCm39) |
T374S |
probably benign |
Het |
| Elavl1 |
T |
A |
8: 4,339,623 (GRCm39) |
K320* |
probably null |
Het |
| Foxn3 |
T |
A |
12: 99,355,000 (GRCm39) |
M55L |
probably benign |
Het |
| Gm14399 |
A |
T |
2: 174,972,605 (GRCm39) |
Y383* |
probably null |
Het |
| H2-M10.5 |
T |
A |
17: 37,085,487 (GRCm39) |
H215Q |
probably benign |
Het |
| Hsd17b13 |
C |
A |
5: 104,120,512 (GRCm39) |
C80F |
probably damaging |
Het |
| Ifi206 |
G |
T |
1: 173,308,511 (GRCm39) |
T495N |
|
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Ipo13 |
A |
T |
4: 117,769,534 (GRCm39) |
I86N |
probably damaging |
Het |
| Iqcf3 |
T |
G |
9: 106,438,175 (GRCm39) |
E16A |
unknown |
Het |
| Kcnh5 |
T |
A |
12: 75,134,532 (GRCm39) |
D339V |
probably damaging |
Het |
| Lmbr1 |
C |
T |
5: 29,440,040 (GRCm39) |
M441I |
probably benign |
Het |
| Me3 |
G |
T |
7: 89,498,803 (GRCm39) |
G461V |
probably damaging |
Het |
| Mepce |
A |
G |
5: 137,783,441 (GRCm39) |
L295P |
possibly damaging |
Het |
| Mtpap |
T |
A |
18: 4,396,141 (GRCm39) |
Y478N |
probably damaging |
Het |
| Myl12a |
T |
C |
17: 71,303,231 (GRCm39) |
M74V |
probably benign |
Het |
| Neil3 |
A |
T |
8: 54,062,559 (GRCm39) |
M99K |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,442,616 (GRCm39) |
T723A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,892,870 (GRCm39) |
I6792N |
probably benign |
Het |
| Or13a19 |
G |
T |
7: 139,903,027 (GRCm39) |
W138C |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,522 (GRCm39) |
L26P |
probably benign |
Het |
| Or5al7 |
A |
G |
2: 85,993,266 (GRCm39) |
V9A |
possibly damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,887 (GRCm39) |
Y123* |
probably null |
Het |
| Or8h10 |
G |
A |
2: 86,808,501 (GRCm39) |
T213I |
probably benign |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
C |
A |
17: 55,999,739 (GRCm39) |
V229L |
probably benign |
Het |
| Psmd1 |
A |
G |
1: 86,006,329 (GRCm39) |
I232V |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,000,935 (GRCm39) |
E1463G |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,368,604 (GRCm39) |
Y307F |
possibly damaging |
Het |
| Shprh |
G |
A |
10: 11,063,727 (GRCm39) |
E1267K |
possibly damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,645,694 (GRCm39) |
Y392* |
probably null |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,444,896 (GRCm39) |
G2268R |
probably benign |
Het |
| Tex47 |
G |
A |
5: 7,355,301 (GRCm39) |
E161K |
probably benign |
Het |
| Timd6 |
G |
T |
11: 46,468,082 (GRCm39) |
R52L |
probably damaging |
Het |
| Tmem236 |
T |
C |
2: 14,224,168 (GRCm39) |
L319P |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,742,695 (GRCm39) |
T606A |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,761,794 (GRCm39) |
T81A |
probably damaging |
Het |
| Trav6d-4 |
A |
T |
14: 52,991,092 (GRCm39) |
T46S |
probably benign |
Het |
| Wdr19 |
T |
A |
5: 65,381,210 (GRCm39) |
Y411* |
probably null |
Het |
| Zfp553 |
A |
G |
7: 126,835,476 (GRCm39) |
T344A |
probably damaging |
Het |
| Zfp62 |
G |
A |
11: 49,106,019 (GRCm39) |
G37S |
probably benign |
Het |
|
| Other mutations in Pitx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
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'- TTGAACAACCTGAGCAGCCC -3'
(R):5'- ACACTTGGGGACATTCCTTTG -3'
Sequencing Primer
(F):5'- CCGTCGCTGAATTCCGC -3'
(R):5'- GAAATCAAAGGCGCTCTCTCTTTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation