Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02385:Or4f57'

291510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4f57

Ensembl Gene

ENSMUSG00000074952

Gene Name

olfactory receptor family 4 subfamily F member 57

Synonyms

MOR245-22, Olfr1308, GA_x6K02T2Q125-73008844-73007882

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL02385

Quality Score

Status

Chromosome

Chromosomal Location

111790454-111791416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111790603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 272 (P272S)

Ref Sequence

ENSEMBL: ENSMUSP00000146688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099605] [ENSMUST00000207560]

AlphaFold

Q7TQX0

Predicted Effect

probably benign
Transcript: ENSMUST00000099605
AA Change: P272S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: P272S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	2.2e-39	PFAM
Pfam:7tm_1	41	287	3.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207560
AA Change: P272S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,201,630 (GRCm39)	D351E	probably damaging	Het
Adad2	A	G	8: 120,341,773 (GRCm39)		probably benign	Het
Adamts8	A	G	9: 30,873,026 (GRCm39)	N744D	probably benign	Het
Atad5	C	T	11: 79,985,453 (GRCm39)	T180I	probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bcl9	A	T	3: 97,116,594 (GRCm39)	I700K	probably benign	Het
Bcr	T	C	10: 74,981,235 (GRCm39)	S685P	probably damaging	Het
Cd36	A	G	5: 18,019,717 (GRCm39)	V128A	probably benign	Het
Cfap20dc	A	G	14: 8,510,920 (GRCm38)	V498A	possibly damaging	Het
Chd2	T	C	7: 73,085,570 (GRCm39)	Y1688C	probably damaging	Het
Csmd1	A	G	8: 15,953,275 (GRCm39)	V3402A	probably benign	Het
Dsg3	T	C	18: 20,660,771 (GRCm39)	V370A	probably damaging	Het
Dus4l	A	G	12: 31,690,674 (GRCm39)		probably benign	Het
Fcrlb	A	G	1: 170,735,168 (GRCm39)	S320P	probably damaging	Het
Fer1l4	T	C	2: 155,887,348 (GRCm39)	D616G	probably benign	Het
Fxr2	C	T	11: 69,543,095 (GRCm39)	R631C	possibly damaging	Het
Gltpd2	T	A	11: 70,410,822 (GRCm39)	F152I	probably damaging	Het
Gpt2	T	A	8: 86,242,782 (GRCm39)		probably null	Het
Hsd3b6	A	T	3: 98,713,888 (GRCm39)	I137K	possibly damaging	Het
Kcna6	A	G	6: 126,715,917 (GRCm39)	V324A	probably benign	Het
Kcnu1	C	T	8: 26,422,298 (GRCm39)	L188F	probably damaging	Het
Kdm1b	A	G	13: 47,221,982 (GRCm39)	I474V	possibly damaging	Het
Kifap3	C	T	1: 163,693,013 (GRCm39)	Q602*	probably null	Het
Lrp4	T	A	2: 91,305,065 (GRCm39)	C231S	possibly damaging	Het
Lrrc63	T	C	14: 75,323,640 (GRCm39)	D528G	probably benign	Het
Nosip	C	A	7: 44,726,156 (GRCm39)	R240S	possibly damaging	Het
Or11g26	T	C	14: 50,752,900 (GRCm39)	S80P	probably damaging	Het
Or4k41	A	G	2: 111,279,695 (GRCm39)	D70G	probably damaging	Het
Orc5	A	T	5: 22,731,438 (GRCm39)	D231E	probably damaging	Het
Poli	A	T	18: 70,659,645 (GRCm39)	M62K	possibly damaging	Het
Ppp1r13b	A	C	12: 111,801,477 (GRCm39)	S402R	probably damaging	Het
Prl3b1	T	C	13: 27,433,366 (GRCm39)	S174P	possibly damaging	Het
Ptpra	T	C	2: 130,382,393 (GRCm39)		probably benign	Het
Sfpq	T	A	4: 126,919,929 (GRCm39)		probably null	Het
Sh3bp1	T	A	15: 78,790,088 (GRCm39)		probably benign	Het
Slc7a2	T	G	8: 41,352,048 (GRCm39)	V37G	probably damaging	Het
Smc1a	A	T	X: 150,820,655 (GRCm39)	E794D	possibly damaging	Het
Sox6	T	C	7: 115,149,274 (GRCm39)	R366G	possibly damaging	Het
Spaca7	A	G	8: 12,636,498 (GRCm39)	N108S	possibly damaging	Het
Spon1	T	G	7: 113,365,567 (GRCm39)	M1R	probably null	Het
Sult6b2	T	C	6: 142,747,498 (GRCm39)	R84G	probably benign	Het
Syt2	A	G	1: 134,673,553 (GRCm39)	N299S	probably benign	Het
Syvn1	T	C	19: 6,098,570 (GRCm39)	V104A	probably damaging	Het
Tbpl1	A	G	10: 22,583,568 (GRCm39)	L134P	probably damaging	Het
Tex11	A	T	X: 99,920,135 (GRCm39)		probably benign	Het
Tnfrsf21	A	G	17: 43,350,942 (GRCm39)	S369G	probably damaging	Het
Tram1l1	T	C	3: 124,115,707 (GRCm39)	V289A	probably benign	Het
Ttyh3	A	T	5: 140,619,060 (GRCm39)	F277L	probably benign	Het
Vmn2r17	T	G	5: 109,582,247 (GRCm39)	N545K	probably damaging	Het
Wdr20	A	T	12: 110,759,657 (GRCm39)	H181L	probably benign	Het
Zscan20	A	G	4: 128,498,392 (GRCm39)	M2T	possibly damaging	Het

Other mutations in Or4f57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Or4f57	APN	2	111,790,620 (GRCm39)	missense	possibly damaging	0.84
IGL01359:Or4f57	APN	2	111,791,406 (GRCm39)	missense	probably benign
IGL01731:Or4f57	APN	2	111,790,980 (GRCm39)	missense	probably benign	0.03
IGL01788:Or4f57	APN	2	111,791,352 (GRCm39)	missense	probably benign
IGL02969:Or4f57	APN	2	111,790,912 (GRCm39)	missense	probably damaging	1.00
R0102:Or4f57	UTSW	2	111,790,942 (GRCm39)	missense	probably damaging	1.00
R0102:Or4f57	UTSW	2	111,790,942 (GRCm39)	missense	probably damaging	1.00
R0244:Or4f57	UTSW	2	111,791,361 (GRCm39)	missense	probably benign	0.13
R0265:Or4f57	UTSW	2	111,790,839 (GRCm39)	missense	probably damaging	0.99
R1268:Or4f57	UTSW	2	111,791,222 (GRCm39)	missense	possibly damaging	0.78
R1406:Or4f57	UTSW	2	111,790,926 (GRCm39)	missense	probably benign	0.07
R1406:Or4f57	UTSW	2	111,790,926 (GRCm39)	missense	probably benign	0.07
R1568:Or4f57	UTSW	2	111,790,585 (GRCm39)	missense	probably benign	0.02
R2401:Or4f57	UTSW	2	111,790,494 (GRCm39)	missense	probably benign	0.01
R4396:Or4f57	UTSW	2	111,790,560 (GRCm39)	missense	probably damaging	1.00
R4528:Or4f57	UTSW	2	111,791,293 (GRCm39)	missense	probably damaging	1.00
R5916:Or4f57	UTSW	2	111,791,175 (GRCm39)	missense	probably damaging	1.00
R6332:Or4f57	UTSW	2	111,791,091 (GRCm39)	missense	probably damaging	0.98
R6595:Or4f57	UTSW	2	111,790,515 (GRCm39)	missense	possibly damaging	0.95
R7339:Or4f57	UTSW	2	111,790,956 (GRCm39)	missense	probably benign	0.12
R7917:Or4f57	UTSW	2	111,791,310 (GRCm39)	missense	probably damaging	0.98
R8017:Or4f57	UTSW	2	111,790,918 (GRCm39)	missense	probably damaging	0.99
R8092:Or4f57	UTSW	2	111,790,652 (GRCm39)	missense	probably benign	0.00
R8246:Or4f57	UTSW	2	111,790,483 (GRCm39)	missense	probably benign	0.05
R9389:Or4f57	UTSW	2	111,790,872 (GRCm39)	missense	probably damaging	1.00
R9515:Or4f57	UTSW	2	111,790,584 (GRCm39)	missense	possibly damaging	0.54
R9631:Or4f57	UTSW	2	111,791,377 (GRCm39)	missense	probably benign	0.13

Posted On

2015-04-16