Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01317:Or4f57'

73883

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: 0.081) question?

Stock #

IGL01317

Quality Score

Status

Chromosome

Chromosomal Location

111790454-111791416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111790620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 266 (H266L)

Ref Sequence

ENSEMBL: ENSMUSP00000146688 (fasta)

Gene Model

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

AlphaFold

Q7TQX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099605
AA Change: H266L

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: H266L

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

possibly damaging
Transcript: ENSMUST00000207560
AA Change: H266L

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

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
Adam32	A	T	8: 25,362,597 (GRCm39)	D609E	probably damaging	Het
Aldh3b1	T	C	19: 3,968,104 (GRCm39)	I352V	probably benign	Het
Apeh	A	T	9: 107,963,406 (GRCm39)	S605R	probably benign	Het
Arhgap32	A	G	9: 32,168,260 (GRCm39)	K748E	probably benign	Het
Avpr1a	T	C	10: 122,285,472 (GRCm39)	S255P	probably benign	Het
Cadps2	T	A	6: 23,314,172 (GRCm39)	D1124V	possibly damaging	Het
Cask	C	T	X: 13,388,499 (GRCm39)	E83K	probably damaging	Het
Cep170b	A	G	12: 112,704,078 (GRCm39)	Y670C	probably damaging	Het
Chd3	A	G	11: 69,244,037 (GRCm39)	Y1343H	probably damaging	Het
Cit	T	A	5: 116,046,775 (GRCm39)	V396D	probably benign	Het
Cldn18	T	C	9: 99,578,135 (GRCm39)	T203A	probably benign	Het
Dido1	A	C	2: 180,313,550 (GRCm39)	N907K	probably benign	Het
Dmbt1	T	A	7: 130,642,921 (GRCm39)	D246E	probably damaging	Het
Dph1	T	C	11: 75,071,486 (GRCm39)	H303R	probably benign	Het
Dspp	T	A	5: 104,321,914 (GRCm39)	Y8N	probably damaging	Het
Efhc2	C	T	X: 17,071,198 (GRCm39)		probably benign	Het
Fam171a1	T	A	2: 3,203,663 (GRCm39)	V215E	probably damaging	Het
Fhip1a	T	C	3: 85,580,153 (GRCm39)	D684G	probably benign	Het
Foxm1	T	A	6: 128,344,316 (GRCm39)	M22K	probably damaging	Het
Gdpd4	A	C	7: 97,647,465 (GRCm39)	M371L	possibly damaging	Het
Hdac9	T	C	12: 34,479,488 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,413,908 (GRCm39)	W162R	probably damaging	Het
Hydin	A	T	8: 111,053,078 (GRCm39)	D250V	probably damaging	Het
Itga4	T	A	2: 79,153,005 (GRCm39)	C897*	probably null	Het
Itprid1	G	T	6: 55,944,790 (GRCm39)	A504S	possibly damaging	Het
Kcnd2	T	C	6: 21,727,339 (GRCm39)	*631Q	probably null	Het
Kcnn2	A	G	18: 45,693,694 (GRCm39)		probably null	Het
Lama1	A	T	17: 68,125,696 (GRCm39)	E2951V	probably damaging	Het
Lyst	A	G	13: 13,845,455 (GRCm39)	Q1944R	probably benign	Het
Mmp14	A	G	14: 54,673,247 (GRCm39)	T52A	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,372 (GRCm39)	N102K	probably benign	Het
Mrpl28	G	A	17: 26,344,489 (GRCm39)	G205D	probably damaging	Het
Mtmr4	T	C	11: 87,493,230 (GRCm39)		probably benign	Het
Oog2	A	G	4: 143,921,837 (GRCm39)	N249S	probably benign	Het
Ppp6r2	T	A	15: 89,170,131 (GRCm39)	V882E	possibly damaging	Het
Qser1	A	C	2: 104,617,324 (GRCm39)	Y1073D	probably damaging	Het
Rbl2	C	A	8: 91,826,685 (GRCm39)	D480E	probably damaging	Het
Rfx7	G	A	9: 72,525,818 (GRCm39)	G1003S	probably damaging	Het
Rrh	A	C	3: 129,616,074 (GRCm39)	F20V	possibly damaging	Het
Rwdd3	A	G	3: 120,965,282 (GRCm39)	I15T	possibly damaging	Het
Sestd1	A	T	2: 77,022,889 (GRCm39)	M493K	possibly damaging	Het
Slc17a8	T	A	10: 89,456,666 (GRCm39)	L32F	probably benign	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Tbc1d10a	A	T	11: 4,162,826 (GRCm39)	Y223F	probably benign	Het
Tbx20	A	G	9: 24,681,051 (GRCm39)	V147A	probably damaging	Het
Tmem63c	A	T	12: 87,118,770 (GRCm39)		probably benign	Het
Tmtc2	C	A	10: 105,249,646 (GRCm39)	R29L	probably damaging	Het
Ttc21b	T	A	2: 66,018,700 (GRCm39)	M1236L	probably benign	Het
Unc119	T	A	11: 78,238,052 (GRCm39)	C12S	probably damaging	Het
Vcan	A	G	13: 89,839,787 (GRCm39)	M1919T	probably benign	Het
Zmat4	C	A	8: 24,392,185 (GRCm39)	T47K	probably benign	Het

Other mutations in Or4f57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02385:Or4f57	APN	2	111,790,603 (GRCm39)	missense	probably benign	0.00
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

2013-10-07