Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03214:Otx2'

413420

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 #

IGL03214

Quality Score

Status

Chromosome

Chromosomal Location

48894238-48905101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48898781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 75 (I75T)

Ref Sequence

ENSEMBL: ENSMUSP00000154066 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000118578
AA Change: I75T

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

SMART Domains

Protein: ENSMUSP00000113690
Gene: ENSMUSG00000021848
AA Change: I75T

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

probably damaging
Transcript: ENSMUST00000119070
AA Change: I83T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112532
Gene: ENSMUSG00000021848
AA Change: I83T

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

probably damaging
Transcript: ENSMUST00000122009
AA Change: I75T

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

SMART Domains

Protein: ENSMUSP00000113930
Gene: ENSMUSG00000021848
AA Change: I75T

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

probably benign
Transcript: ENSMUST00000133479

SMART Domains

Protein: ENSMUSP00000122200
Gene: ENSMUSG00000021848

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: I83T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116630
Gene: ENSMUSG00000021848
AA Change: I83T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152018
AA Change: I75T

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

SMART Domains

Protein: ENSMUSP00000123454
Gene: ENSMUSG00000021848
AA Change: I75T

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

probably damaging
Transcript: ENSMUST00000226501
AA Change: I75T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227404
AA Change: I75T

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	C	11: 7,117,054 (GRCm39)		probably benign	Het
Asb5	T	C	8: 55,038,098 (GRCm39)	V207A	probably benign	Het
Atxn3	G	T	12: 101,912,181 (GRCm39)		probably benign	Het
Brwd1	T	C	16: 95,839,100 (GRCm39)	D857G	probably benign	Het
Cacna1i	A	G	15: 80,239,917 (GRCm39)	N322S	probably benign	Het
Ccn6	T	C	10: 39,029,163 (GRCm39)	N255S	probably benign	Het
Dcun1d1	A	T	3: 35,973,220 (GRCm39)	W92R	probably damaging	Het
Dnah7a	A	C	1: 53,561,368 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,086,896 (GRCm39)	D581G	probably benign	Het
Fam135a	G	A	1: 24,092,357 (GRCm39)	L201F	probably damaging	Het
Gm14496	T	G	2: 181,642,329 (GRCm39)	L667V	probably damaging	Het
Grk4	T	A	5: 34,909,553 (GRCm39)	M539K	probably benign	Het
Itpr2	A	G	6: 146,081,742 (GRCm39)	V2261A	probably benign	Het
Krtap5-2	A	G	7: 141,728,751 (GRCm39)	S310P	unknown	Het
Mme	A	T	3: 63,237,111 (GRCm39)	Y232F	possibly damaging	Het
Mtmr4	T	C	11: 87,488,519 (GRCm39)	Y58H	probably damaging	Het
Myh13	T	C	11: 67,244,411 (GRCm39)	S983P	possibly damaging	Het
Nbas	A	G	12: 13,381,111 (GRCm39)		probably benign	Het
Neb	C	T	2: 52,049,560 (GRCm39)	G6428R	probably damaging	Het
Neb	T	A	2: 52,087,856 (GRCm39)	T5448S	possibly damaging	Het
Or2ag17	T	A	7: 106,389,552 (GRCm39)	I219L	probably benign	Het
Or2t1	A	T	14: 14,328,284 (GRCm38)	M58L	probably damaging	Het
Or52ab7	G	T	7: 102,977,873 (GRCm39)	S60I	possibly damaging	Het
Or5l13	T	A	2: 87,780,415 (GRCm39)	Q54L	probably benign	Het
Or5p52	T	C	7: 107,502,173 (GRCm39)	M83T	probably benign	Het
Phex	A	T	X: 155,960,500 (GRCm39)	N681K	probably damaging	Het
Plekha8	C	A	6: 54,612,755 (GRCm39)	A454E	probably damaging	Het
Rbfa	C	A	18: 80,240,506 (GRCm39)	K152N	probably benign	Het
Satb2	C	A	1: 56,884,739 (GRCm39)	S513I	probably damaging	Het
Slc4a2	G	T	5: 24,639,879 (GRCm39)	R520L	probably benign	Het
Slfn14	T	C	11: 83,169,826 (GRCm39)	H606R	probably benign	Het
Smc1b	G	A	15: 84,982,147 (GRCm39)	Q716*	probably null	Het
Syncrip	C	T	9: 88,346,696 (GRCm39)		probably benign	Het
Vmn2r30	T	A	7: 7,337,259 (GRCm39)	I126F	probably benign	Het
Vps13c	C	T	9: 67,804,477 (GRCm39)	A762V	probably null	Het
Wdr64	C	A	1: 175,571,201 (GRCm39)		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
IGL02194:Otx2	APN	14	48,898,850 (GRCm39)	missense	possibly damaging	0.95
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

2016-08-02