Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Pitx2'

472370

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

044140-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128993527-129013240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129012169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 180 (S180G)

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: S200G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047359
Gene: ENSMUSG00000028023
AA Change: S200G

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: S147G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101990
Gene: ENSMUSG00000028023
AA Change: S147G

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 damaging
Transcript: ENSMUST00000172645
AA Change: S180G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134692
Gene: ENSMUSG00000028023
AA Change: S180G

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

probably benign
Transcript: ENSMUST00000174661
AA Change: S193G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133756
Gene: ENSMUSG00000028023
AA Change: S193G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199637

Meta Mutation Damage Score

0.0619

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,981,879 (GRCm39)	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793 (GRCm38)	Y113N	probably benign	Het
Arid4b	T	A	13: 14,365,849 (GRCm39)		probably benign	Het
Atf6	C	T	1: 170,662,448 (GRCm39)	G271R	probably damaging	Het
Bnip5	T	A	17: 29,124,729 (GRCm39)	Q256L	possibly damaging	Het
Cct8l1	C	A	5: 25,722,741 (GRCm39)	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,894,561 (GRCm39)	E102G	probably damaging	Het
Celsr1	A	T	15: 85,916,701 (GRCm39)	V424E	probably damaging	Het
Ces1h	T	C	8: 94,089,587 (GRCm39)	T271A	probably benign	Het
Cfap44	T	C	16: 44,300,210 (GRCm39)	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,935,583 (GRCm39)	L427F	probably damaging	Het
Crybg3	T	C	16: 59,313,934 (GRCm39)		probably benign	Het
Dis3l2	A	G	1: 86,948,830 (GRCm39)	D589G	probably damaging	Het
Dlg1	A	G	16: 31,484,401 (GRCm39)	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,311,752 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,492,430 (GRCm39)	T723S	probably benign	Het
Dsg3	A	T	18: 20,671,586 (GRCm39)	N764Y	probably damaging	Het
Dst	G	T	1: 34,301,141 (GRCm39)	R3654L	probably damaging	Het
Dynlt5	T	G	4: 102,861,447 (GRCm39)	L147R	probably damaging	Het
Evl	C	T	12: 108,641,812 (GRCm39)	T198I	probably benign	Het
Hectd2	A	G	19: 36,574,639 (GRCm39)		probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,174,072 (GRCm39)	V34A	probably benign	Het
Ikzf2	A	T	1: 69,722,403 (GRCm39)	N41K	probably damaging	Het
Kif6	G	T	17: 50,022,116 (GRCm39)	A339S	probably damaging	Het
Klhl1	T	A	14: 96,477,790 (GRCm39)	D426V	probably damaging	Het
Knop1	A	C	7: 118,452,557 (GRCm39)	V54G	probably damaging	Het
Lama4	T	A	10: 38,906,444 (GRCm39)	V270D	probably benign	Het
Lnx2	A	G	5: 146,961,160 (GRCm39)		probably null	Het
Lrp5	A	T	19: 3,652,333 (GRCm39)	V1179E	probably benign	Het
Lrpprc	T	G	17: 85,047,598 (GRCm39)	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,599,510 (GRCm39)		probably benign	Het
Ltbp1	A	T	17: 75,580,865 (GRCm39)	D660V	probably damaging	Het
Macf1	C	G	4: 123,333,229 (GRCm39)		probably null	Het
Map3k21	C	A	8: 126,668,499 (GRCm39)	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,324,253 (GRCm39)	D895E	possibly damaging	Het
Mink1	T	A	11: 70,500,412 (GRCm39)	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,069,467 (GRCm39)	E108G	probably damaging	Het
Mtcl3	T	C	10: 29,019,644 (GRCm39)		probably benign	Het
Nars1	A	G	18: 64,643,556 (GRCm39)	V141A	possibly damaging	Het
Or8g34	T	C	9: 39,373,633 (GRCm39)	V299A	probably benign	Het
Pard3b	T	A	1: 62,255,690 (GRCm39)	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,717,186 (GRCm39)	M1599R	possibly damaging	Het
Pkd2l1	A	C	19: 44,140,529 (GRCm39)	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,396,361 (GRCm39)	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,721,179 (GRCm39)	T109A	probably damaging	Het
Rai1	T	A	11: 60,078,419 (GRCm39)	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,785,050 (GRCm39)	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,640,190 (GRCm39)	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,245,306 (GRCm39)	T134S	probably benign	Het
Skint1	A	G	4: 111,876,532 (GRCm39)	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,416,335 (GRCm39)	W54L	probably benign	Het
Slc49a3	A	T	5: 108,593,351 (GRCm39)	H162Q	probably damaging	Het
Synpo2l	T	A	14: 20,716,003 (GRCm39)	Q191L	probably benign	Het
Tank	A	G	2: 61,483,913 (GRCm39)		probably benign	Het
Terb1	A	T	8: 105,215,117 (GRCm39)		probably null	Het
Trdc	T	C	14: 54,381,768 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,697,787 (GRCm39)	I63V	probably null	Het
Ust	T	C	10: 8,123,865 (GRCm39)	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,472,652 (GRCm39)	Q23R	probably benign	Het
Wdr93	A	T	7: 79,423,179 (GRCm39)	H481L	probably damaging	Het
Xirp2	A	G	2: 67,341,664 (GRCm39)	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,839,710 (GRCm39)	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zfp472	T	A	17: 33,196,481 (GRCm39)	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,421,532 (GRCm39)	P66H	probably benign	Het
Zfp712	A	T	13: 67,192,881 (GRCm39)	L57Q	probably damaging	Het
Zik1	G	A	7: 10,224,498 (GRCm39)	Q200*	probably null	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
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
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'- AAGAATCGCCGGGCCAAATG -3'
(R):5'- CCCTATAAACGTACGGAGGAG -3'

Sequencing Primer
(F):5'- CCGGGCCAAATGGAGAAAGC -3'
(R):5'- CTATAAACGTACGGAGGAGTCGGC -3'

Posted On

2017-03-31