Mutagenetix > Incidental Mutation

Incidental Mutation 'R1945:Pitx2'

216558

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

039963-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128993527-129013240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129012185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 198 (N198S)

Ref Sequence

ENSEMBL: ENSMUSP00000133756 (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: N205S

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

SMART Domains

Protein: ENSMUSP00000047359
Gene: ENSMUSG00000028023
AA Change: N205S

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

probably damaging
Transcript: ENSMUST00000106382
AA Change: N152S

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

SMART Domains

Protein: ENSMUSP00000101990
Gene: ENSMUSG00000028023
AA Change: N152S

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: N185S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134692
Gene: ENSMUSG00000028023
AA Change: N185S

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 damaging
Transcript: ENSMUST00000174661
AA Change: N198S

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

SMART Domains

Protein: ENSMUSP00000133756
Gene: ENSMUSG00000028023
AA Change: N198S

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,653,549 (GRCm39)	I33V	unknown	Het
Abca1	ACGTCTTCACCAGGTAATC	AC	4: 53,061,509 (GRCm39)		probably null	Het
Amotl2	T	C	9: 102,597,753 (GRCm39)	S171P	probably benign	Het
Armh4	T	A	14: 50,005,940 (GRCm39)	E585V	probably damaging	Het
Atf6	A	T	1: 170,682,710 (GRCm39)	V34E	probably benign	Het
Atrip	T	A	9: 108,900,935 (GRCm39)	I135F	probably damaging	Het
Bglap	A	G	3: 88,290,971 (GRCm39)	Y87H	probably damaging	Het
Camk2n1	G	A	4: 138,184,094 (GRCm39)	V78I	possibly damaging	Het
Ccdc92b	A	G	11: 74,520,835 (GRCm39)	I46V	probably benign	Het
Cdc14b	T	C	13: 64,367,704 (GRCm39)	Y208C	probably damaging	Het
Cdc42bpb	C	T	12: 111,265,567 (GRCm39)	R1455Q	probably damaging	Het
Cep170	C	A	1: 176,621,100 (GRCm39)	G26*	probably null	Het
Cfap46	A	G	7: 139,259,819 (GRCm39)	F217S	probably damaging	Het
Col11a2	A	T	17: 34,278,142 (GRCm39)	D691V	probably damaging	Het
Col7a1	G	A	9: 108,789,078 (GRCm39)	V798I	unknown	Het
Coq8b	CGCA	CGCAGCA	7: 26,933,405 (GRCm39)		probably benign	Het
Coq8b	GCA	GCAACA	7: 26,933,406 (GRCm39)		probably benign	Het
Dcaf5	T	C	12: 80,385,468 (GRCm39)	D886G	probably benign	Het
Ern1	A	G	11: 106,312,776 (GRCm39)	S202P	probably damaging	Het
Etaa1	A	G	11: 17,897,233 (GRCm39)	C295R	probably damaging	Het
Ghdc	C	T	11: 100,660,031 (GRCm39)	A239T	probably benign	Het
Grik4	T	C	9: 42,432,300 (GRCm39)	D899G	possibly damaging	Het
Hacd2	C	A	16: 34,922,354 (GRCm39)	T181K	possibly damaging	Het
Havcr2	T	C	11: 46,345,877 (GRCm39)	L17P	unknown	Het
Herc3	T	C	6: 58,864,424 (GRCm39)	V686A	probably damaging	Het
Hyal3	T	C	9: 107,462,671 (GRCm39)	L235P	probably damaging	Het
Itgb4	C	T	11: 115,884,279 (GRCm39)	Q988*	probably null	Het
Itprid2	T	C	2: 79,492,996 (GRCm39)	V1181A	probably benign	Het
Krt32	T	A	11: 99,975,670 (GRCm39)		probably null	Het
Krt33a	T	C	11: 99,903,535 (GRCm39)	N199S	probably benign	Het
Lama1	T	A	17: 68,052,848 (GRCm39)	S394T	probably benign	Het
Lamp1	T	C	8: 13,222,545 (GRCm39)	V243A	probably benign	Het
Loxhd1	A	G	18: 77,492,504 (GRCm39)	Y1315C	probably damaging	Het
Macf1	A	T	4: 123,384,453 (GRCm39)	L1148*	probably null	Het
Mill2	A	G	7: 18,575,419 (GRCm39)	H42R	probably benign	Het
Myo15a	T	C	11: 60,392,909 (GRCm39)	F2194L	probably damaging	Het
Myo15b	A	T	11: 115,769,224 (GRCm39)	I1472F	probably damaging	Het
Nasp	T	C	4: 116,479,965 (GRCm39)	S36G	possibly damaging	Het
Nav2	A	G	7: 49,114,620 (GRCm39)	Y868C	probably damaging	Het
Niban1	T	C	1: 151,571,979 (GRCm39)	I308T	probably damaging	Het
Nono	T	C	X: 100,485,429 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,164,588 (GRCm39)	I1154F	possibly damaging	Het
Npc1l1	C	T	11: 6,175,199 (GRCm39)	W592*	probably null	Het
Nsg2	T	C	11: 32,005,068 (GRCm39)	V90A	probably damaging	Het
Odf4	T	C	11: 68,812,983 (GRCm39)	N225S	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or1j12	T	C	2: 36,343,043 (GRCm39)	W149R	probably damaging	Het
Or4c123	T	C	2: 89,127,128 (GRCm39)	Y162C	probably damaging	Het
Pcdhb4	A	T	18: 37,441,921 (GRCm39)	R410S	probably damaging	Het
Pde6c	T	A	19: 38,145,967 (GRCm39)	D418E	probably damaging	Het
Pik3ap1	A	T	19: 41,262,776 (GRCm39)	S799T	probably benign	Het
Psmb3	T	C	11: 97,601,981 (GRCm39)	F117S	probably benign	Het
Ptprq	A	T	10: 107,418,249 (GRCm39)	M1709K	probably benign	Het
Recql5	G	A	11: 115,819,123 (GRCm39)	R148*	probably null	Het
Reep3	A	G	10: 66,871,678 (GRCm39)	S97P	probably damaging	Het
Rnase12	T	A	14: 51,294,463 (GRCm39)	Q72L	possibly damaging	Het
Scd3	T	C	19: 44,224,219 (GRCm39)	Y151H	probably benign	Het
Scn10a	A	T	9: 119,520,520 (GRCm39)	S127T	possibly damaging	Het
Scn7a	A	T	2: 66,506,324 (GRCm39)	W1522R	probably damaging	Het
Senp7	A	G	16: 55,944,309 (GRCm39)	H211R	probably damaging	Het
Septin10	C	T	10: 59,016,841 (GRCm39)		probably null	Het
Serpinb6d	T	C	13: 33,851,663 (GRCm39)	V140A	possibly damaging	Het
Sned1	A	G	1: 93,198,960 (GRCm39)	E457G	probably benign	Het
Spag17	A	C	3: 99,847,298 (GRCm39)	M76L	probably benign	Het
Spata31e2	C	A	1: 26,721,395 (GRCm39)	V1262F	probably benign	Het
Spata31e3	C	T	13: 50,399,527 (GRCm39)	G933E	probably damaging	Het
Sspo	A	T	6: 48,466,707 (GRCm39)	E105V	possibly damaging	Het
Stoml3	T	A	3: 53,412,866 (GRCm39)	D173E	possibly damaging	Het
Sun3	T	C	11: 8,988,296 (GRCm39)	I9V	probably benign	Het
Svil	T	C	18: 5,117,059 (GRCm39)	W2165R	probably damaging	Het
Tbl2	T	A	5: 135,186,454 (GRCm39)	S184T	possibly damaging	Het
Tdrd7	A	T	4: 45,965,474 (GRCm39)	T31S	probably benign	Het
Tmeff1	A	G	4: 48,614,960 (GRCm39)	N139S	possibly damaging	Het
Trip13	T	C	13: 74,076,043 (GRCm39)	R199G	probably damaging	Het
Tshb	G	T	3: 102,684,831 (GRCm39)	Y124*	probably null	Het
Ttn	T	C	2: 76,560,366 (GRCm39)	E29345G	probably damaging	Het
Usp33	T	A	3: 152,085,223 (GRCm39)	S620T	probably benign	Het
Vipr1	G	A	9: 121,497,540 (GRCm39)	G353R	probably damaging	Het
Vipr1	G	T	9: 121,497,541 (GRCm39)	G353V	probably damaging	Het
Vps13c	A	T	9: 67,793,558 (GRCm39)	D437V	probably damaging	Het
Ylpm1	T	A	12: 85,062,192 (GRCm39)	S240T	probably damaging	Het
Zfp772	A	G	7: 7,206,629 (GRCm39)	I354T	probably benign	Het
Zfp959	T	A	17: 56,204,231 (GRCm39)	Y86*	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
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
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'- TCCCTATAAACGTACGGAGGAG -3'

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

Posted On

2014-08-01