Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Otx2'

544928

Institutional Source

Beutler Lab

Gene Symbol

Otx2

Ensembl Gene

ENSMUSG00000021848

Gene Name

orthodenticle homeobox 2

Synonyms

E130306E05Rik

MMRRC Submission

045111-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48894238-48905101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48896254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 260 (K260M)

Ref Sequence

ENSEMBL: ENSMUSP00000154066 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000118578
AA Change: K260M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113690
Gene: ENSMUSG00000021848
AA Change: K260M

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: K268M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112532
Gene: ENSMUSG00000021848
AA Change: K268M

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: K260M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113930
Gene: ENSMUSG00000021848
AA Change: K260M

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: ENSMUST00000226501
AA Change: K260M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227404
AA Change: K260M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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

Meta Mutation Damage Score

0.1152

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	G	T	13: 59,838,624 (GRCm39)	D69E	possibly damaging	Het
Abat	A	C	16: 8,420,231 (GRCm39)	M177L	probably benign	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Adam5	T	C	8: 25,296,454 (GRCm39)	N331S	probably benign	Het
Ager	A	G	17: 34,819,710 (GRCm39)	E372G	probably damaging	Het
Angpt1	T	A	15: 42,386,991 (GRCm39)	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,154,178 (GRCm39)	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,157,272 (GRCm39)	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,566,422 (GRCm39)	Q1131L	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,691,322 (GRCm39)	M1K	probably null	Het
Ccdc18	G	A	5: 108,321,728 (GRCm39)		probably null	Het
Ccdc42	T	C	11: 68,485,442 (GRCm39)	F267S	probably damaging	Het
Cdh23	T	A	10: 60,173,085 (GRCm39)	Y1700F	probably damaging	Het
Cenpe	A	T	3: 134,940,962 (GRCm39)	S704C	probably damaging	Het
Cenpe	G	A	3: 134,940,963 (GRCm39)	S704N	probably benign	Het
Cfap299	A	T	5: 98,932,379 (GRCm39)	D193V	probably damaging	Het
Cfap54	A	T	10: 92,710,881 (GRCm39)	S2727T	unknown	Het
Clu	T	A	14: 66,209,281 (GRCm39)	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,161,954 (GRCm39)	I98V	probably benign	Het
Copa	G	T	1: 171,918,567 (GRCm39)	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,376,603 (GRCm39)		probably null	Het
Etnk1	T	A	6: 143,148,880 (GRCm39)		probably null	Het
Fnip1	A	T	11: 54,393,761 (GRCm39)	K732N	probably damaging	Het
G6pd2	A	G	5: 61,966,234 (GRCm39)	E3G	probably benign	Het
Gal3st2	A	G	1: 93,801,481 (GRCm39)	T95A	probably benign	Het
Gapvd1	A	G	2: 34,590,829 (GRCm39)	S948P	probably damaging	Het
Ggps1	A	T	13: 14,228,750 (GRCm39)	Y8*	probably null	Het
Gria2	T	C	3: 80,614,279 (GRCm39)	E587G	probably damaging	Het
Hpse	T	C	5: 100,840,145 (GRCm39)	E324G	probably benign	Het
Il16	G	A	7: 83,295,596 (GRCm39)	T493I	probably benign	Het
Ints1	T	C	5: 139,754,217 (GRCm39)	T652A	possibly damaging	Het
Ism1	A	G	2: 139,599,199 (GRCm39)	I391V	probably damaging	Het
Katnb1	A	G	8: 95,825,012 (GRCm39)	D598G	probably damaging	Het
Kif5c	A	G	2: 49,647,441 (GRCm39)	S880G	probably benign	Het
Klra8	T	C	6: 130,102,147 (GRCm39)	N96S	probably benign	Het
Krt79	T	A	15: 101,839,876 (GRCm39)	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,257,374 (GRCm39)	R92Q	probably benign	Het
Lce1d	C	A	3: 92,593,353 (GRCm39)	C20F	unknown	Het
Limk1	T	C	5: 134,701,553 (GRCm39)	T117A	probably benign	Het
Medag	A	T	5: 149,350,708 (GRCm39)	K61M	probably benign	Het
Mkrn3	T	C	7: 62,069,366 (GRCm39)	M142V	probably benign	Het
Mob3c	G	A	4: 115,688,779 (GRCm39)	R104H	probably benign	Het
Morc1	G	T	16: 48,447,433 (GRCm39)	R903L	possibly damaging	Het
Myh6	T	C	14: 55,189,749 (GRCm39)	E1099G	probably damaging	Het
Nphp3	T	G	9: 103,893,315 (GRCm39)	C434G	probably null	Het
Npr3	C	T	15: 11,905,334 (GRCm39)	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,855,609 (GRCm39)	Y112*	probably null	Het
Oprl1	A	G	2: 181,360,174 (GRCm39)	T77A	probably damaging	Het
Osgep	A	G	14: 51,162,165 (GRCm39)	V24A	probably damaging	Het
Pdcd11	T	C	19: 47,101,581 (GRCm39)	L922P	probably benign	Het
Pgap4	A	T	4: 49,586,325 (GRCm39)	M281K	probably benign	Het
Phldb1	A	G	9: 44,605,705 (GRCm39)	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,337,299 (GRCm39)		probably null	Het
Psmd3	G	A	11: 98,573,592 (GRCm39)	D13N	probably benign	Het
Ptprc	G	A	1: 137,992,291 (GRCm39)	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,063,064 (GRCm39)	H291L	probably damaging	Het
Rasa4	T	A	5: 136,130,217 (GRCm39)	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,641,755 (GRCm39)		silent	Het
Rin2	A	C	2: 145,725,395 (GRCm39)	D794A	probably damaging	Het
Ripk1	A	G	13: 34,214,045 (GRCm39)	I522M	probably damaging	Het
Rnf31	T	C	14: 55,830,008 (GRCm39)	Y143H	probably benign	Het
Rp1	T	G	1: 4,112,291 (GRCm39)	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,585,796 (GRCm39)	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,109,541 (GRCm39)	V455A	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	T	G	9: 119,314,996 (GRCm39)	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,326,014 (GRCm39)	S240*	probably null	Het
Slc22a8	C	T	19: 8,582,781 (GRCm39)	T154I	probably benign	Het
Slc25a16	T	A	10: 62,773,233 (GRCm39)	V156E	possibly damaging	Het
Slc28a3	A	T	13: 58,758,618 (GRCm39)	S2T	probably benign	Het
Srd5a3	G	A	5: 76,297,713 (GRCm39)	V48I	probably benign	Het
Srebf1	A	C	11: 60,091,352 (GRCm39)	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,527,672 (GRCm39)	K1310E	probably benign	Het
Swt1	A	G	1: 151,246,381 (GRCm39)	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,731,525 (GRCm39)	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,738,883 (GRCm39)	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,883,165 (GRCm39)		probably null	Het
Trim45	A	G	3: 100,839,195 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,933 (GRCm39)	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,787,139 (GRCm39)	C715*	probably null	Het
Vmn2r102	G	A	17: 19,914,456 (GRCm39)	V674I	probably damaging	Het
Zfp87	A	G	13: 67,665,173 (GRCm39)	S430P	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
R6058:Otx2	UTSW	14	48,896,215 (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'- TCTGAGAGCATCGTTCCATC -3'
(R):5'- GGCTCAACTTCCTACTTTGGGG -3'

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

Posted On

2019-05-13