Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01380:Otop3'

78801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otop3

Ensembl Gene

ENSMUSG00000018862

Gene Name

otopetrin 3

Synonyms

2310011E08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01380

Quality Score

Status

Chromosome

Chromosomal Location

115225557-115237753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115237237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 567 (V567A)

Ref Sequence

ENSEMBL: ENSMUSP00000102153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000044152] [ENSMUST00000106542] [ENSMUST00000106543]

AlphaFold

Q80UF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000019006
AA Change: V586A

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

SMART Domains

Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: V586A

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	102	120	N/A	INTRINSIC
Pfam:Otopetrin	142	483	3e-40	PFAM
Pfam:Otopetrin	506	583	1.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044152

SMART Domains

Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586

Domain	Start	End	E-Value	Type
Pfam:Dymeclin	1	763	3.9e-242	PFAM
Pfam:Hid1	1	784	3.1e-260	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106542

SMART Domains

Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586

Domain	Start	End	E-Value	Type
Pfam:Dymeclin	1	764	7.5e-275	PFAM
Pfam:Hid1	1	785	2.3e-261	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106543
AA Change: V567A

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

SMART Domains

Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: V567A

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	102	120	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	178	195	N/A	INTRINSIC
transmembrane domain	208	227	N/A	INTRINSIC
Pfam:Otopetrin	241	462	2.1e-20	PFAM
Pfam:Otopetrin	487	564	2.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146256

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,840,053 (GRCm39)	T42A	probably benign	Het
Abcc10	C	A	17: 46,634,948 (GRCm39)	V352L	possibly damaging	Het
Ankrd44	A	T	1: 54,766,724 (GRCm39)	M488K	probably benign	Het
Ano8	A	G	8: 71,933,453 (GRCm39)		probably benign	Het
Atp2a1	T	A	7: 126,047,942 (GRCm39)	M623L	possibly damaging	Het
Atxn10	G	T	15: 85,260,896 (GRCm39)	E214*	probably null	Het
Btla	A	C	16: 45,070,716 (GRCm39)	D225A	probably benign	Het
C030048H21Rik	G	A	2: 26,146,659 (GRCm39)	Q1218*	probably null	Het
Cacna1a	A	G	8: 85,285,746 (GRCm39)	Y750C	probably damaging	Het
Ccdc15	A	T	9: 37,187,853 (GRCm39)		probably benign	Het
Ccdc18	T	A	5: 108,328,753 (GRCm39)	I724N	probably damaging	Het
Cluh	T	A	11: 74,556,772 (GRCm39)	F937L	probably benign	Het
Clybl	G	T	14: 122,616,761 (GRCm39)	A259S	probably benign	Het
Cyp4f39	T	G	17: 32,700,832 (GRCm39)	I167S	probably damaging	Het
Dchs1	T	A	7: 105,411,418 (GRCm39)	D1566V	probably damaging	Het
Dnah3	C	T	7: 119,525,787 (GRCm39)	A3867T	probably damaging	Het
Dtwd1	T	A	2: 126,001,847 (GRCm39)	L189Q	probably benign	Het
Dusp10	T	C	1: 183,801,211 (GRCm39)	I326T	possibly damaging	Het
Eaf1	T	A	14: 31,219,767 (GRCm39)		probably benign	Het
Eif3c	C	T	7: 126,163,585 (GRCm39)		probably benign	Het
Fam169a	C	T	13: 97,228,459 (GRCm39)	T44M	probably damaging	Het
Fam184a	T	C	10: 53,570,782 (GRCm39)		probably benign	Het
Fam25a	C	T	14: 34,075,655 (GRCm39)	A46T	probably null	Het
Gckr	A	G	5: 31,456,977 (GRCm39)		probably benign	Het
Gfra2	G	T	14: 71,204,586 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,703 (GRCm38)		probably null	Het
H2-Eb2	G	T	17: 34,554,783 (GRCm39)	L228F	probably benign	Het
Igf2r	T	C	17: 12,914,261 (GRCm39)	N1736S	probably benign	Het
Izumo1	T	G	7: 45,276,519 (GRCm39)	S361A	probably benign	Het
Klri1	T	C	6: 129,675,761 (GRCm39)	I170V	probably benign	Het
L3mbtl2	C	T	15: 81,555,326 (GRCm39)	A193V	possibly damaging	Het
Lats1	T	A	10: 7,567,544 (GRCm39)	M105K	possibly damaging	Het
Lrpprc	T	C	17: 85,030,158 (GRCm39)	D1080G	probably benign	Het
Lrrc74a	A	T	12: 86,808,496 (GRCm39)	M425L	possibly damaging	Het
Mfsd13a	G	T	19: 46,356,347 (GRCm39)	D151Y	probably damaging	Het
Mst1	G	A	9: 107,961,787 (GRCm39)	E640K	probably damaging	Het
Napsa	T	C	7: 44,236,098 (GRCm39)	V379A	probably damaging	Het
Or1e16	A	T	11: 73,286,017 (GRCm39)	M277K	probably damaging	Het
Or55b4	C	T	7: 102,133,592 (GRCm39)	C245Y	probably damaging	Het
Or7c19	C	A	8: 85,957,775 (GRCm39)	S217Y	probably damaging	Het
Or7c19	A	T	8: 85,957,958 (GRCm39)	Y278F	possibly damaging	Het
Oxsr1	A	T	9: 119,089,167 (GRCm39)		probably benign	Het
Pak2	A	T	16: 31,860,362 (GRCm39)	V167E	probably benign	Het
Pcdhb16	A	G	18: 37,612,498 (GRCm39)	H486R	probably benign	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rbm6	T	C	9: 107,665,548 (GRCm39)	D616G	probably damaging	Het
Sf3b1	T	C	1: 55,027,108 (GRCm39)	Y1249C	probably damaging	Het
Sipa1l3	T	C	7: 29,030,797 (GRCm39)	H534R	possibly damaging	Het
Slco1c1	T	C	6: 141,485,777 (GRCm39)	Y136H	probably damaging	Het
Smarca4	A	G	9: 21,590,369 (GRCm39)	M1333V	probably benign	Het
Smc4	A	G	3: 68,933,161 (GRCm39)	D54G	probably damaging	Het
Spag5	T	A	11: 78,195,443 (GRCm39)	V250E	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Suv39h2	T	A	2: 3,465,296 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,968,005 (GRCm39)	H63L	probably damaging	Het
Tex2	G	A	11: 106,435,141 (GRCm39)	Q264*	probably null	Het
Thnsl2	A	C	6: 71,115,740 (GRCm39)	S156A	probably benign	Het
Tmtc4	G	T	14: 123,163,366 (GRCm39)		probably benign	Het
Usp25	T	C	16: 76,890,566 (GRCm39)	L758P	probably benign	Het
Zfyve1	G	A	12: 83,599,281 (GRCm39)	R144C	probably damaging	Het
Zpld1	A	G	16: 55,072,133 (GRCm39)	V42A	probably damaging	Het

Other mutations in Otop3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Otop3	APN	11	115,235,279 (GRCm39)	missense	probably benign
IGL00159:Otop3	APN	11	115,235,223 (GRCm39)	missense	probably damaging	1.00
IGL01372:Otop3	APN	11	115,235,930 (GRCm39)	missense	possibly damaging	0.86
IGL01960:Otop3	APN	11	115,231,795 (GRCm39)	missense	probably damaging	0.97
IGL03099:Otop3	APN	11	115,230,408 (GRCm39)	missense	probably damaging	0.99
F5770:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
R1560:Otop3	UTSW	11	115,235,289 (GRCm39)	missense	possibly damaging	0.89
R2847:Otop3	UTSW	11	115,235,384 (GRCm39)	missense	probably damaging	0.99
R2849:Otop3	UTSW	11	115,235,384 (GRCm39)	missense	probably damaging	0.99
R5582:Otop3	UTSW	11	115,230,165 (GRCm39)	missense	unknown
R6383:Otop3	UTSW	11	115,235,898 (GRCm39)	missense	probably damaging	0.99
R6601:Otop3	UTSW	11	115,230,673 (GRCm39)	missense	probably damaging	0.98
R7001:Otop3	UTSW	11	115,230,479 (GRCm39)	missense	probably damaging	1.00
R7339:Otop3	UTSW	11	115,237,204 (GRCm39)	missense	probably damaging	1.00
R7487:Otop3	UTSW	11	115,235,826 (GRCm39)	missense	probably benign
R7609:Otop3	UTSW	11	115,230,546 (GRCm39)	missense	possibly damaging	0.63
R7639:Otop3	UTSW	11	115,235,187 (GRCm39)	missense	possibly damaging	0.94
R7643:Otop3	UTSW	11	115,230,474 (GRCm39)	missense	probably damaging	1.00
R7820:Otop3	UTSW	11	115,230,414 (GRCm39)	missense	probably damaging	0.99
R8044:Otop3	UTSW	11	115,237,261 (GRCm39)	missense	probably damaging	1.00
R8110:Otop3	UTSW	11	115,230,221 (GRCm39)	missense	probably benign
R8281:Otop3	UTSW	11	115,235,901 (GRCm39)	missense	possibly damaging	0.88
R8556:Otop3	UTSW	11	115,235,782 (GRCm39)	missense	probably benign	0.00
R8899:Otop3	UTSW	11	115,231,886 (GRCm39)	critical splice donor site	probably null
R9137:Otop3	UTSW	11	115,235,868 (GRCm39)	missense	possibly damaging	0.88
R9165:Otop3	UTSW	11	115,235,424 (GRCm39)	missense	possibly damaging	0.62
R9306:Otop3	UTSW	11	115,237,248 (GRCm39)	missense	probably benign	0.09
R9788:Otop3	UTSW	11	115,235,087 (GRCm39)	missense	unknown
V7580:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
V7581:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
V7582:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
V7583:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
X0022:Otop3	UTSW	11	115,230,693 (GRCm39)	missense	probably benign	0.01
Z1176:Otop3	UTSW	11	115,231,838 (GRCm39)	missense	probably damaging	1.00
Z1176:Otop3	UTSW	11	115,230,670 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05