Mutagenetix > Incidental Mutation

Incidental Mutation 'R5869:Pitx3'

501959

Institutional Source

Beutler Lab

Gene Symbol

Pitx3

Ensembl Gene

ENSMUSG00000025229

Gene Name

paired-like homeodomain transcription factor 3

Synonyms

Ptx3

MMRRC Submission

044077-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46124124-46136765 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 46125735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026259] [ENSMUST00000043739] [ENSMUST00000172971]

AlphaFold

O35160

Predicted Effect

probably benign
Transcript: ENSMUST00000026259

SMART Domains

Protein: ENSMUSP00000026259
Gene: ENSMUSG00000025229

Domain	Start	End	E-Value	Type
HOX	62	124	3.48e-26	SMART
low complexity region	157	174	N/A	INTRINSIC
low complexity region	189	236	N/A	INTRINSIC
low complexity region	240	252	N/A	INTRINSIC
Pfam:OAR	258	276	3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043739

SMART Domains

Protein: ENSMUSP00000036357
Gene: ENSMUSG00000038754

Domain	Start	End	E-Value	Type
Pfam:ELO	30	267	2.9e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172971

SMART Domains

Protein: ENSMUSP00000134563
Gene: ENSMUSG00000025229

Domain	Start	End	E-Value	Type
Pfam:Homeobox	63	91	1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172980

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

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 act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene cause variable defects in many aspects of ocular development and loss of a subset of midbrain dopaminergic neurons. Observed phenotypes may include growth abnormalities, alterations in liver, lung, and bone function, and sex-specific neurobehavioral anomalies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,161,450 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,239,903 (GRCm39)	E100G	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Aspscr1	T	C	11: 120,579,746 (GRCm39)	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,939 (GRCm39)		probably benign	Het
Calm5	T	A	13: 3,904,321 (GRCm39)		probably benign	Het
Car5a	G	A	8: 122,643,119 (GRCm39)	T295I	probably benign	Het
Ccdc174	T	A	6: 91,862,399 (GRCm39)		probably benign	Het
Celsr2	G	A	3: 108,321,225 (GRCm39)	A529V	probably damaging	Het
Cep192	A	G	18: 67,948,935 (GRCm39)	D252G	probably benign	Het
Clcnka	A	G	4: 141,122,276 (GRCm39)	F217L	probably benign	Het
Cnot3	A	T	7: 3,647,929 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,907 (GRCm39)		probably benign	Het
Cstf3	A	G	2: 104,489,585 (GRCm39)		probably null	Het
Dcdc2a	C	T	13: 25,291,713 (GRCm39)	P233S	probably benign	Het
Ddx55	A	G	5: 124,706,745 (GRCm39)	T581A	probably benign	Het
Exo1	T	C	1: 175,728,849 (GRCm39)	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,068,511 (GRCm39)	E616G	possibly damaging	Het
Fignl2	T	C	15: 100,951,161 (GRCm39)	S374G	unknown	Het
Gm4799	A	T	10: 82,790,283 (GRCm39)		noncoding transcript	Het
Hectd4	T	C	5: 121,481,288 (GRCm39)		probably null	Het
Ighv1-76	T	C	12: 115,811,658 (GRCm39)	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,234,531 (GRCm39)	H465Q	probably benign	Het
Itga9	A	G	9: 118,492,957 (GRCm39)	D284G	probably damaging	Het
Itpr1	T	C	6: 108,450,490 (GRCm39)	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,029,991 (GRCm39)	S185P	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt1	A	T	15: 101,758,566 (GRCm39)	F199L	probably damaging	Het
Lpin2	A	G	17: 71,539,271 (GRCm39)		probably benign	Het
Lrp1b	A	C	2: 40,894,615 (GRCm39)	D2204E	probably damaging	Het
Mier3	T	A	13: 111,851,384 (GRCm39)	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mroh3	T	A	1: 136,113,861 (GRCm39)	M643L	probably benign	Het
Myh11	A	G	16: 14,048,664 (GRCm39)	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,785,505 (GRCm39)	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,438,960 (GRCm39)	R179Q	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Pias1	A	T	9: 62,820,048 (GRCm39)	D306E	probably benign	Het
Pick1	A	G	15: 79,133,095 (GRCm39)	D385G	probably benign	Het
Plpp3	T	A	4: 105,052,159 (GRCm39)		probably null	Het
Prlhr	C	A	19: 60,456,059 (GRCm39)	R169L	probably damaging	Het
Ptprf	A	C	4: 118,067,579 (GRCm39)	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,604,939 (GRCm39)	D35G	probably benign	Het
Rnf130	A	G	11: 49,976,642 (GRCm39)		probably null	Het
Rnf17	A	C	14: 56,743,445 (GRCm39)	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,742,708 (GRCm39)	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,388,943 (GRCm39)	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,526,379 (GRCm39)	V855G	probably benign	Het
Slc5a5	C	A	8: 71,344,974 (GRCm39)	R111L	probably damaging	Het
Spart	A	T	3: 55,042,931 (GRCm39)	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,686 (GRCm39)	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,086,925 (GRCm39)	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 155,011,055 (GRCm39)		probably null	Het
Tnfrsf19	C	T	14: 61,208,627 (GRCm39)	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,787,858 (GRCm39)	K809E	probably benign	Het
Ttn	G	A	2: 76,580,553 (GRCm39)	P23447S	probably damaging	Het
Uap1	T	A	1: 169,978,707 (GRCm39)		probably null	Het
Wdr82	A	G	9: 106,062,503 (GRCm39)	Q252R	probably benign	Het
Zfp523	T	C	17: 28,413,967 (GRCm39)	I34T	probably benign	Het
Zfp808	T	A	13: 62,319,069 (GRCm39)	H99Q	probably damaging	Het

Other mutations in Pitx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1853:Pitx3	UTSW	19	46,125,912 (GRCm39)	missense	probably benign	0.34
R2046:Pitx3	UTSW	19	46,125,618 (GRCm39)	missense	possibly damaging	0.72
R2190:Pitx3	UTSW	19	46,125,486 (GRCm39)	missense	probably damaging	0.98
R3547:Pitx3	UTSW	19	46,124,548 (GRCm39)	missense	possibly damaging	0.93
R4666:Pitx3	UTSW	19	46,125,540 (GRCm39)	missense	possibly damaging	0.93
R7427:Pitx3	UTSW	19	46,125,863 (GRCm39)	missense	possibly damaging	0.85
R8970:Pitx3	UTSW	19	46,125,540 (GRCm39)	missense	possibly damaging	0.93
R9745:Pitx3	UTSW	19	46,124,660 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TAGCGATTCCTCTGGAAGGTGG -3'
(R):5'- ACTAGAGACCTCCCTCCATG -3'

Sequencing Primer
(F):5'- TCTGGAAGGTGGCCTCCAG -3'
(R):5'- CTCCCTCCATGGAGTTTGGG -3'

Posted On

2018-01-31