Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Pitx2'

485002

Institutional Source

Beutler Lab

Gene Symbol

Pitx2

Ensembl Gene

ENSMUSG00000028023

Gene Name

paired-like homeodomain transcription factor 2

Synonyms

Pitx2b, Pitx2a, Brx1, solurshin, Brx1a, Brx1b, Ptx2, Otlx2, Pitx2c, Rieg, Munc30

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6114 (G1)

Quality Score

82.0076

Status

Validated

Chromosome

Chromosomal Location

129199878-129219591 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 129204413 bp (GRCm38)

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

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

probably benign
Transcript: ENSMUST00000172645

SMART Domains

Protein: ENSMUSP00000134692
Gene: ENSMUSG00000028023

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 null
Transcript: ENSMUST00000173645

Predicted Effect

probably null
Transcript: ENSMUST00000174661

SMART Domains

Protein: ENSMUSP00000133756
Gene: ENSMUSG00000028023

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

Meta Mutation Damage Score

0.9755

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803 (GRCm38)	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297 (GRCm38)	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159 (GRCm38)	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051 (GRCm38)	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744 (GRCm38)	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213 (GRCm38)	T11S	unknown	Het
Blm	T	C	7: 80,513,487 (GRCm38)	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971 (GRCm38)	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140 (GRCm38)	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201 (GRCm38)	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330 (GRCm38)	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953 (GRCm38)	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710 (GRCm38)	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753 (GRCm38)	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801 (GRCm38)	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306 (GRCm38)	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374 (GRCm38)	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876 (GRCm38)	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081 (GRCm38)	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791 (GRCm38)		probably benign	Het
Hoxd9	A	G	2: 74,699,365 (GRCm38)	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387 (GRCm38)	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759 (GRCm38)	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035 (GRCm38)	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692 (GRCm38)	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676 (GRCm38)	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826 (GRCm38)	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360 (GRCm38)	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836 (GRCm38)	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290 (GRCm38)	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816 (GRCm38)	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585 (GRCm38)	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689 (GRCm38)	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386 (GRCm38)	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333 (GRCm38)	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872 (GRCm38)	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947 (GRCm38)	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112 (GRCm38)		probably null	Het
Reck	T	A	4: 43,922,895 (GRCm38)	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323 (GRCm38)	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792 (GRCm38)		probably null	Het
Scn8a	A	G	15: 101,040,596 (GRCm38)	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852 (GRCm38)	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092 (GRCm38)	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312 (GRCm38)	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604 (GRCm38)	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262 (GRCm38)		probably benign	Het
Sox8	T	C	17: 25,567,520 (GRCm38)	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985 (GRCm38)		probably null	Het
Svil	T	C	18: 5,108,639 (GRCm38)	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245 (GRCm38)	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375 (GRCm38)	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640 (GRCm38)	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868 (GRCm38)	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669 (GRCm38)	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364 (GRCm38)	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829 (GRCm38)	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325 (GRCm38)	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376 (GRCm38)	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605 (GRCm38)	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691 (GRCm38)	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736 (GRCm38)	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595 (GRCm38)	F540Y	probably damaging	Het

Other mutations in Pitx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Pitx2	APN	3	129,214,764 (GRCm38)	missense	probably damaging	0.99
IGL02110:Pitx2	APN	3	129,218,817 (GRCm38)	missense	probably damaging	0.99
Chihuahua	UTSW	3	129,215,840 (GRCm38)	missense	probably damaging	1.00
milly	UTSW	3	129,218,574 (GRCm38)	missense	probably damaging	1.00
R0014:Pitx2	UTSW	3	129,218,499 (GRCm38)	missense	possibly damaging	0.70
R1083:Pitx2	UTSW	3	129,218,769 (GRCm38)	missense	probably damaging	1.00
R1474:Pitx2	UTSW	3	129,218,839 (GRCm38)	missense	probably damaging	1.00
R1789:Pitx2	UTSW	3	129,218,754 (GRCm38)	missense	probably damaging	1.00
R1945:Pitx2	UTSW	3	129,218,536 (GRCm38)	missense	probably damaging	1.00
R5305:Pitx2	UTSW	3	129,215,840 (GRCm38)	missense	probably damaging	1.00
R5950:Pitx2	UTSW	3	129,218,520 (GRCm38)	missense	probably damaging	1.00
R6189:Pitx2	UTSW	3	129,218,469 (GRCm38)	missense	probably damaging	1.00
R6192:Pitx2	UTSW	3	129,215,872 (GRCm38)	missense	probably benign	0.09
R6226:Pitx2	UTSW	3	129,215,842 (GRCm38)	missense	probably damaging	1.00
R6526:Pitx2	UTSW	3	129,214,783 (GRCm38)	critical splice donor site	probably null
R6778:Pitx2	UTSW	3	129,218,743 (GRCm38)	missense	probably damaging	1.00
R6885:Pitx2	UTSW	3	129,218,608 (GRCm38)	missense	probably damaging	1.00
R7575:Pitx2	UTSW	3	129,215,726 (GRCm38)	missense	probably damaging	1.00
R8390:Pitx2	UTSW	3	129,218,858 (GRCm38)	missense	probably damaging	0.96
R8766:Pitx2	UTSW	3	129,218,574 (GRCm38)	missense	probably damaging	1.00
R9021:Pitx2	UTSW	3	129,214,783 (GRCm38)	critical splice donor site	probably null
R9236:Pitx2	UTSW	3	129,215,696 (GRCm38)	missense	probably damaging	1.00
R9744:Pitx2	UTSW	3	129,215,818 (GRCm38)	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