Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:Otx2'

483075

Institutional Source

Beutler Lab

Gene Symbol

Otx2

Ensembl Gene

ENSMUSG00000021848

Gene Name

orthodenticle homeobox 2

Synonyms

E130306E05Rik

MMRRC Submission

044224-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48894238-48905101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48896215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 281 (D281G)

Ref Sequence

ENSEMBL: ENSMUSP00000112532 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000118578
AA Change: D273G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113690
Gene: ENSMUSG00000021848
AA Change: D273G

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: D281G

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

SMART Domains

Protein: ENSMUSP00000112532
Gene: ENSMUSG00000021848
AA Change: D281G

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: D273G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113930
Gene: ENSMUSG00000021848
AA Change: D273G

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

probably benign
Transcript: ENSMUST00000144465

SMART Domains

Protein: ENSMUSP00000116630
Gene: ENSMUSG00000021848

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227404
AA Change: D273G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226501
AA Change: D273G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000152018

SMART Domains

Protein: ENSMUSP00000123454
Gene: ENSMUSG00000021848

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

Coding Region Coverage

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

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cep57l1	A	T	10: 41,616,918 (GRCm39)	I123N	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Ldb2	T	C	5: 44,633,905 (GRCm39)	T322A	possibly damaging	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Nxf1	G	A	19: 8,745,186 (GRCm39)	V479M	probably damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Pcdhga3	A	T	18: 37,808,141 (GRCm39)	D198V	probably damaging	Het
Ppp1r13l	T	C	7: 19,104,500 (GRCm39)	V273A	probably benign	Het
Ppp6r2	T	C	15: 89,137,455 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,143,995 (GRCm39)	I273F	possibly damaging	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp438	T	C	18: 5,213,209 (GRCm39)	E583G	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGAGTCTGAGAGCATCG -3'
(R):5'- GGCTCAACTTCCTACTTTGGG -3'

Sequencing Primer
(F):5'- GAGTCTGAGAGCATCGTTCCATC -3'
(R):5'- CAACTTCCTACTTTGGGGGCATG -3'

Posted On

2017-07-14