Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02194:Otx2'

284003

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otx2

Ensembl Gene

ENSMUSG00000021848

Gene Name

orthodenticle homeobox 2

Synonyms

E130306E05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02194

Quality Score

Status

Chromosome

Chromosomal Location

48894238-48905101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48898850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 52 (V52D)

Ref Sequence

ENSEMBL: ENSMUSP00000122200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118578] [ENSMUST00000119070] [ENSMUST00000119739] [ENSMUST00000122009] [ENSMUST00000133479] [ENSMUST00000135279] [ENSMUST00000144465] [ENSMUST00000152018] [ENSMUST00000227404] [ENSMUST00000226501]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118578
AA Change: V52D

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113690
Gene: ENSMUSG00000021848
AA Change: V52D

Domain	Start	End	E-Value	Type
HOX	38	100	9.7e-25	SMART
low complexity region	132	151	N/A	INTRINSIC
Pfam:TF_Otx	153	235	4.5e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119070
AA Change: V60D

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112532
Gene: ENSMUSG00000021848
AA Change: V60D

Domain	Start	End	E-Value	Type
HOX	46	108	9.7e-25	SMART
low complexity region	140	159	N/A	INTRINSIC
Pfam:TF_Otx	161	242	1.6e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119739

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122009
AA Change: V52D

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113930
Gene: ENSMUSG00000021848
AA Change: V52D

Domain	Start	End	E-Value	Type
HOX	38	100	9.7e-25	SMART
low complexity region	132	151	N/A	INTRINSIC
Pfam:TF_Otx	153	235	4.5e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133479
AA Change: V52D

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

SMART Domains

Protein: ENSMUSP00000122200
Gene: ENSMUSG00000021848
AA Change: V52D

Domain	Start	End	E-Value	Type
Pfam:Homeobox	39	63	1.3e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135279

SMART Domains

Protein: ENSMUSP00000123046
Gene: ENSMUSG00000021848

Domain	Start	End	E-Value	Type
HOX	1	34	2.62e-1	SMART
low complexity region	66	85	N/A	INTRINSIC
Pfam:TF_Otx	87	154	2e-34	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144465
AA Change: V60D

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116630
Gene: ENSMUSG00000021848
AA Change: V60D

Domain	Start	End	E-Value	Type
HOX	46	98	3.83e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152018
AA Change: V52D

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123454
Gene: ENSMUSG00000021848
AA Change: V52D

Domain	Start	End	E-Value	Type
HOX	38	100	9.7e-25	SMART
low complexity region	132	151	N/A	INTRINSIC
Pfam:TF_Otx	153	207	3.5e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227404
AA Change: V52D

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226501
AA Change: V52D

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that belongs to the homeobox family of transcription factors. The encoded protein plays a role in the development and patterning of the head. This protein regulates development of the choroid plexuses in the brain affecting composition of cerebrospinal fluid in the developing brain and is thought to function in the development of sense organs in the embryo. In humans, mutations in this gene are associated with pituitary hormone deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis due to abnormal gastrulation and embryonic patterning in the brain and heart. Mice heterozygous for another knock-out allele exhibit female-specific lethality, reduced male fertility and abnoral gonadotrophs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,828,812 (GRCm39)	Q230*	probably null	Het
Akap5	C	T	12: 76,374,807 (GRCm39)	P80S	probably damaging	Het
Akap6	T	A	12: 52,933,606 (GRCm39)	M366K	probably benign	Het
Ankef1	T	A	2: 136,392,429 (GRCm39)	D539E	probably benign	Het
Anxa11	A	G	14: 25,870,553 (GRCm39)	D39G	unknown	Het
Atp13a4	G	T	16: 29,275,447 (GRCm39)	H346N	probably damaging	Het
Btnl1	A	C	17: 34,598,509 (GRCm39)	T42P	possibly damaging	Het
Cul3	T	A	1: 80,300,754 (GRCm39)	Y29F	probably benign	Het
Dcun1d4	A	G	5: 73,638,544 (GRCm39)		probably benign	Het
Det1	A	T	7: 78,489,912 (GRCm39)	V371E	probably benign	Het
Duoxa2	C	A	2: 122,132,330 (GRCm39)	A248D	possibly damaging	Het
Ehbp1l1	A	T	19: 5,768,885 (GRCm39)	I806K	probably benign	Het
Fam76b	G	T	9: 13,744,274 (GRCm39)	G124W	probably damaging	Het
Fhl5	T	C	4: 25,211,341 (GRCm39)	E117G	probably benign	Het
Ighv15-2	T	C	12: 114,528,341 (GRCm39)	I70V	probably damaging	Het
Iqca1	T	C	1: 89,973,385 (GRCm39)	T768A	probably benign	Het
Itih1	A	C	14: 30,652,322 (GRCm39)	D786E	probably benign	Het
Krt15	A	G	11: 100,022,839 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,857,746 (GRCm39)		probably null	Het
Map3k4	G	T	17: 12,467,882 (GRCm39)	Q1051K	probably benign	Het
Map3k4	G	T	17: 12,482,815 (GRCm39)	P634H	probably damaging	Het
Mettl21e	T	C	1: 44,250,343 (GRCm39)	D21G	probably benign	Het
Mre11a	T	C	9: 14,726,505 (GRCm39)	S423P	possibly damaging	Het
Mzf1	T	A	7: 12,777,647 (GRCm39)	T665S	possibly damaging	Het
Or4c111	T	C	2: 88,844,231 (GRCm39)	Y59C	probably damaging	Het
Or7c19	T	A	8: 85,957,262 (GRCm39)	I46N	possibly damaging	Het
Rnf157	C	T	11: 116,237,858 (GRCm39)		probably null	Het
Ssxa1	T	A	X: 20,987,394 (GRCm39)	I115N	unknown	Het
Ube2q2l	T	C	6: 136,378,056 (GRCm39)	Q258R	probably benign	Het

Other mutations in Otx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Otx2	APN	14	48,896,192 (GRCm39)	missense	probably benign	0.00
IGL03214:Otx2	APN	14	48,898,781 (GRCm39)	missense	probably damaging	1.00
IGL03393:Otx2	APN	14	48,898,781 (GRCm39)	missense	probably damaging	1.00
R1022:Otx2	UTSW	14	48,896,729 (GRCm39)	small deletion	probably benign
R3430:Otx2	UTSW	14	48,896,254 (GRCm39)	missense	probably damaging	1.00
R4118:Otx2	UTSW	14	48,896,611 (GRCm39)	missense	probably benign	0.01
R6058:Otx2	UTSW	14	48,896,215 (GRCm39)	missense	probably damaging	1.00
R7009:Otx2	UTSW	14	48,896,254 (GRCm39)	missense	probably damaging	1.00
R7090:Otx2	UTSW	14	48,896,192 (GRCm39)	missense	probably benign	0.11
R7285:Otx2	UTSW	14	48,898,922 (GRCm39)	missense	probably benign	0.00
R8712:Otx2	UTSW	14	48,896,521 (GRCm39)	missense	probably damaging	0.99
R9110:Otx2	UTSW	14	48,896,227 (GRCm39)	missense	probably damaging	1.00
R9695:Otx2	UTSW	14	48,899,952 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16