Mutagenetix > Incidental Mutation

Incidental Mutation 'R6034:Or4f7'

486427

Institutional Source

Beutler Lab

Gene Symbol

Or4f7

Ensembl Gene

ENSMUSG00000093804

Gene Name

olfactory receptor family 4 subfamily F member 7

Synonyms

Olfr276, GA_x6K02T2Q125-72882187-72881249, MOR245-7, MOR245-7, MOR245-28_p, GA_x6K02T2N82Q-3465-3764, Olfr1303

MMRRC Submission

044206-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111644131-111645069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111644702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 123 (Y123F)

Ref Sequence

ENSEMBL: ENSMUSP00000149015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099609] [ENSMUST00000216114]

AlphaFold

A2AVW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099609
AA Change: Y123F

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

SMART Domains

Protein: ENSMUSP00000097204
Gene: ENSMUSG00000093804
AA Change: Y123F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	2.3e-43	PFAM
Pfam:7TM_GPCR_Srsx	35	302	2.5e-6	PFAM
Pfam:7tm_1	41	287	2.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216114
AA Change: Y123F

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

Meta Mutation Damage Score

0.3469

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (55/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,760,984 (GRCm39)	G80V	unknown	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Atad2	A	T	15: 57,971,959 (GRCm39)	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,659,645 (GRCm39)		probably null	Het
Atp6v1c2	C	A	12: 17,357,501 (GRCm39)	G95V	possibly damaging	Het
Birc6	T	A	17: 74,922,278 (GRCm39)	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,542,091 (GRCm39)	E597G	probably benign	Het
Ccdc40	A	G	11: 119,133,898 (GRCm39)	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354 (GRCm39)	R587K	probably benign	Het
Cdipt	T	G	7: 126,577,497 (GRCm39)	V81G	probably damaging	Het
Cert1	A	C	13: 96,746,308 (GRCm39)	I236L	probably benign	Het
Cfh	T	C	1: 140,090,869 (GRCm39)	K40E	probably damaging	Het
Cps1	T	A	1: 67,196,872 (GRCm39)		probably null	Het
Dnah7c	A	T	1: 46,496,418 (GRCm39)	D101V	probably benign	Het
Fastkd3	T	A	13: 68,731,729 (GRCm39)	W17R	probably damaging	Het
Gapdh	T	C	6: 125,142,261 (GRCm39)	D25G	probably benign	Het
H1f4	A	G	13: 23,806,296 (GRCm39)	L62P	probably damaging	Het
H2-Ob	T	C	17: 34,460,192 (GRCm39)	V30A	probably damaging	Het
Hmgxb3	T	A	18: 61,265,594 (GRCm39)	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,680,711 (GRCm39)	I255N	probably damaging	Het
Imp4	A	G	1: 34,482,537 (GRCm39)	D91G	probably damaging	Het
Itprid1	T	A	6: 55,944,666 (GRCm39)	D462E	possibly damaging	Het
Kcnip4	G	T	5: 48,548,283 (GRCm39)	R241S	possibly damaging	Het
Lilra5	T	C	7: 4,245,133 (GRCm39)	L259P	probably benign	Het
Lipf	T	C	19: 33,942,289 (GRCm39)	I73T	probably benign	Het
Lsm7	T	C	10: 80,688,742 (GRCm39)		probably null	Het
Luzp2	T	A	7: 54,816,972 (GRCm39)	L141M	probably damaging	Het
Malrd1	T	A	2: 15,850,137 (GRCm39)	V1252E	possibly damaging	Het
Map10	T	C	8: 126,399,205 (GRCm39)	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,497,866 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,460 (GRCm39)	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,773,834 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,163,187 (GRCm39)	T339S	probably benign	Het
Naa15	A	G	3: 51,350,242 (GRCm39)	D163G	probably damaging	Het
Oosp2	A	G	19: 11,628,879 (GRCm39)	F74S	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Pard3	C	G	8: 127,791,077 (GRCm39)		probably benign	Het
Pcdha1	T	A	18: 37,063,651 (GRCm39)	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,601 (GRCm39)	T224A	possibly damaging	Het
Phf12	A	G	11: 77,908,895 (GRCm39)	N325S	probably benign	Het
Prom1	T	A	5: 44,201,750 (GRCm39)		probably null	Het
Raet1e	A	G	10: 22,057,990 (GRCm39)	*252W	probably null	Het
Sap130	T	C	18: 31,822,459 (GRCm39)	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,380,509 (GRCm39)	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,351,927 (GRCm39)	T101I	possibly damaging	Het
Selenoo	A	G	15: 88,983,546 (GRCm39)	K529R	probably benign	Het
Slc22a15	A	G	3: 101,770,235 (GRCm39)	F451L	possibly damaging	Het
St6gal2	T	A	17: 55,789,982 (GRCm39)	S339T	probably benign	Het
Stard13	A	T	5: 151,018,965 (GRCm39)		probably null	Het
Synm	A	G	7: 67,384,653 (GRCm39)	V561A	probably damaging	Het
Tc2n	A	T	12: 101,617,460 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,229,377 (GRCm39)	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,011,868 (GRCm39)	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,737,632 (GRCm39)	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,272,215 (GRCm39)	G185C	probably damaging	Het
Zfp563	G	A	17: 33,323,935 (GRCm39)	A177T	probably damaging	Het

Other mutations in Or4f7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Or4f7	APN	2	111,644,126 (GRCm39)	utr 3 prime	probably benign
IGL02442:Or4f7	APN	2	111,644,336 (GRCm39)	missense	probably benign	0.26
IGL02563:Or4f7	APN	2	111,644,162 (GRCm39)	missense	probably benign
IGL03064:Or4f7	APN	2	111,644,768 (GRCm39)	missense	possibly damaging	0.86
R0081:Or4f7	UTSW	2	111,644,213 (GRCm39)	missense	probably damaging	1.00
R0139:Or4f7	UTSW	2	111,644,699 (GRCm39)	missense	possibly damaging	0.54
R0624:Or4f7	UTSW	2	111,645,056 (GRCm39)	missense	probably damaging	1.00
R0926:Or4f7	UTSW	2	111,644,892 (GRCm39)	missense	probably damaging	1.00
R1436:Or4f7	UTSW	2	111,644,906 (GRCm39)	missense	probably damaging	1.00
R2099:Or4f7	UTSW	2	111,644,177 (GRCm39)	missense	probably benign	0.18
R5255:Or4f7	UTSW	2	111,644,523 (GRCm39)	missense	probably benign	0.02
R6034:Or4f7	UTSW	2	111,644,702 (GRCm39)	missense	probably damaging	1.00
R6101:Or4f7	UTSW	2	111,644,598 (GRCm39)	missense	probably benign	0.00
R6385:Or4f7	UTSW	2	111,644,964 (GRCm39)	missense	probably benign
R6489:Or4f7	UTSW	2	111,644,405 (GRCm39)	missense	probably damaging	1.00
R6978:Or4f7	UTSW	2	111,644,155 (GRCm39)	missense	probably benign	0.03
R7410:Or4f7	UTSW	2	111,644,271 (GRCm39)	missense	probably benign	0.00
R8507:Or4f7	UTSW	2	111,645,051 (GRCm39)	missense	probably benign	0.23
R8897:Or4f7	UTSW	2	111,644,576 (GRCm39)	missense	probably benign	0.01
R9084:Or4f7	UTSW	2	111,644,996 (GRCm39)	missense	probably damaging	1.00
R9096:Or4f7	UTSW	2	111,644,196 (GRCm39)	nonsense	probably null
R9097:Or4f7	UTSW	2	111,644,196 (GRCm39)	nonsense	probably null
R9784:Or4f7	UTSW	2	111,644,604 (GRCm39)	missense	probably damaging	1.00
Z1176:Or4f7	UTSW	2	111,644,379 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AGTGACCATGAACTGCAACTTG -3'
(R):5'- CCTTCATTGATTTGGTAGCCTG -3'

Sequencing Primer
(F):5'- CCATGAACTGCAACTTGTAGGTGTC -3'
(R):5'- GCTCTGTTACTTCCCCCAAGATGG -3'

Posted On

2017-08-16