Mutagenetix > Incidental Mutation

Incidental Mutation 'R5084:Or7e173'

387314

Institutional Source

Beutler Lab

Gene Symbol

Or7e173

Ensembl Gene

ENSMUSG00000050803

Gene Name

olfactory receptor family 7 subfamily E member 173

Synonyms

Olfr866, MOR145-5, GA_x6K02T2PVTD-13768406-13767468

MMRRC Submission

042673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19938255-19939331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19938551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 228 (I228F)

Ref Sequence

ENSEMBL: ENSMUSP00000054864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062248]

AlphaFold

Q8VFI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000062248
AA Change: I228F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054864
Gene: ENSMUSG00000050803
AA Change: I228F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	2e-47	PFAM
Pfam:7TM_GPCR_Srsx	38	282	8.7e-7	PFAM
Pfam:7tm_1	44	293	5.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212071

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.4%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,204,116 (GRCm39)	E59D	probably damaging	Het
Akap7	T	A	10: 25,155,640 (GRCm39)		probably benign	Het
Anpep	C	A	7: 79,476,618 (GRCm39)		probably null	Het
Aste1	T	A	9: 105,274,886 (GRCm39)	Y314*	probably null	Het
Ccdc183	G	A	2: 25,498,802 (GRCm39)	T497I	probably damaging	Het
Cd4	A	T	6: 124,847,402 (GRCm39)	I254N	probably damaging	Het
Crot	G	T	5: 9,019,994 (GRCm39)	H449Q	probably damaging	Het
Dact2	A	T	17: 14,418,214 (GRCm39)	W164R	possibly damaging	Het
Dapk3	C	A	10: 81,026,152 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbrsl1	G	A	5: 110,527,272 (GRCm39)		probably benign	Het
Flg	T	C	3: 93,184,922 (GRCm39)	F15L	probably damaging	Het
Fscn2	A	G	11: 120,252,686 (GRCm39)	D51G	probably damaging	Het
H2-Ob	G	T	17: 34,460,102 (GRCm39)	G71V	probably damaging	Het
Hmgcs1	T	C	13: 120,161,520 (GRCm39)	V104A	possibly damaging	Het
Hs3st4	G	T	7: 123,996,518 (GRCm39)	D395Y	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Ldlrad3	G	A	2: 101,900,329 (GRCm39)	R58C	probably damaging	Het
Lpin1	A	G	12: 16,626,983 (GRCm39)	S188P	probably damaging	Het
Mamdc2	G	T	19: 23,336,516 (GRCm39)	T331K	possibly damaging	Het
Matr3	G	A	18: 35,715,135 (GRCm39)	S195N	probably damaging	Het
Nktr	T	C	9: 121,577,176 (GRCm39)	Y390H	possibly damaging	Het
Notch3	C	T	17: 32,376,864 (GRCm39)		probably null	Het
Olfm3	T	C	3: 114,698,202 (GRCm39)		probably null	Het
Or10ak11	A	G	4: 118,686,767 (GRCm39)	V290A	probably damaging	Het
Or2a20	T	C	6: 43,194,594 (GRCm39)	L249P	probably damaging	Het
Or5h25	C	T	16: 58,930,436 (GRCm39)	C179Y	possibly damaging	Het
Or7g17	T	A	9: 18,768,632 (GRCm39)	M237K	probably benign	Het
Pask	A	G	1: 93,249,819 (GRCm39)	V527A	probably benign	Het
Pcdha6	A	T	18: 37,102,016 (GRCm39)	N403I	probably damaging	Het
Peg3	T	C	7: 6,710,848 (GRCm39)	E1458G	probably damaging	Het
Pip4k2b	G	A	11: 97,610,569 (GRCm39)	T386M	probably damaging	Het
Pkd1l1	T	C	11: 8,892,004 (GRCm39)	M272V	probably benign	Het
Plcb4	A	G	2: 135,844,571 (GRCm39)	E163G	probably damaging	Het
Plk5	C	A	10: 80,194,723 (GRCm39)	R149S	possibly damaging	Het
Pou4f3	A	T	18: 42,528,933 (GRCm39)	Y292F	probably damaging	Het
Rasgef1c	A	G	11: 49,860,332 (GRCm39)	K272E	probably damaging	Het
Rbl2	C	T	8: 91,841,759 (GRCm39)	T942M	probably benign	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Smarca4	T	C	9: 21,572,059 (GRCm39)	L777P	probably damaging	Het
Smpd1	T	C	7: 105,206,185 (GRCm39)	Y438H	probably damaging	Het
Sorl1	T	C	9: 41,887,673 (GRCm39)	K2052R	probably benign	Het
Spata31d1c	C	A	13: 65,182,944 (GRCm39)	P162Q	probably damaging	Het
Spmip9	A	G	6: 70,892,688 (GRCm39)	S20P	possibly damaging	Het
Ston1	A	T	17: 88,944,002 (GRCm39)	E469D	probably benign	Het
Syde2	AGTTC	AGTTCGTTC	3: 145,707,164 (GRCm39)		probably null	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,846,836 (GRCm39)	L78Q	probably damaging	Het
Tas2r114	A	T	6: 131,666,251 (GRCm39)	L259*	probably null	Het
Topaz1	T	A	9: 122,577,883 (GRCm39)	H264Q	probably benign	Het
Vcl	G	T	14: 21,059,027 (GRCm39)	V548L	possibly damaging	Het
Vmn2r57	C	A	7: 41,075,974 (GRCm39)		probably null	Het
Vmn2r92	A	G	17: 18,405,439 (GRCm39)	*861W	probably null	Het
Ylpm1	T	G	12: 85,076,095 (GRCm39)	V940G	probably damaging	Het
Zfp236	A	G	18: 82,627,556 (GRCm39)	S1500P	probably damaging	Het
Zfp384	G	T	6: 125,000,642 (GRCm39)		probably benign	Het
Zfp786	T	C	6: 47,796,953 (GRCm39)	M662V	probably benign	Het

Other mutations in Or7e173

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Or7e173	APN	9	19,938,343 (GRCm39)	missense	probably damaging	1.00
IGL01554:Or7e173	APN	9	19,938,704 (GRCm39)	missense	possibly damaging	0.55
IGL01561:Or7e173	APN	9	19,938,818 (GRCm39)	missense	probably benign	0.20
IGL01597:Or7e173	APN	9	19,938,982 (GRCm39)	missense	probably damaging	0.98
IGL02986:Or7e173	APN	9	19,939,007 (GRCm39)	missense	probably benign	0.43
IGL03101:Or7e173	APN	9	19,938,725 (GRCm39)	missense	probably benign	0.03
R0863:Or7e173	UTSW	9	19,938,509 (GRCm39)	missense	probably damaging	1.00
R1747:Or7e173	UTSW	9	19,938,613 (GRCm39)	missense	probably benign	0.01
R2121:Or7e173	UTSW	9	19,938,797 (GRCm39)	missense	probably benign
R2124:Or7e173	UTSW	9	19,938,797 (GRCm39)	missense	probably benign
R2240:Or7e173	UTSW	9	19,938,440 (GRCm39)	missense	probably damaging	1.00
R3793:Or7e173	UTSW	9	19,938,359 (GRCm39)	missense	probably damaging	1.00
R4498:Or7e173	UTSW	9	19,939,029 (GRCm39)	missense	possibly damaging	0.50
R5420:Or7e173	UTSW	9	19,938,355 (GRCm39)	missense	probably damaging	0.98
R6314:Or7e173	UTSW	9	19,938,958 (GRCm39)	missense	probably damaging	0.98
R6357:Or7e173	UTSW	9	19,938,925 (GRCm39)	missense	probably damaging	1.00
R6588:Or7e173	UTSW	9	19,939,162 (GRCm39)	missense	probably damaging	0.97
R6886:Or7e173	UTSW	9	19,938,428 (GRCm39)	missense	probably benign	0.00
R7480:Or7e173	UTSW	9	19,939,230 (GRCm39)	start codon destroyed	probably null
R9026:Or7e173	UTSW	9	19,938,344 (GRCm39)	missense
R9168:Or7e173	UTSW	9	19,938,818 (GRCm39)	missense	probably benign	0.20
R9280:Or7e173	UTSW	9	19,938,639 (GRCm39)	missense	probably benign	0.00
R9559:Or7e173	UTSW	9	19,939,216 (GRCm39)	missense	probably benign
R9562:Or7e173	UTSW	9	19,939,045 (GRCm39)	missense	probably damaging	1.00
Z1088:Or7e173	UTSW	9	19,938,575 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGAATCTCTTCAGGGCATTAC -3'
(R):5'- CTTCCGGGATGTGGAAATTGC -3'

Sequencing Primer
(F):5'- CTATTCCTCAGGGTGTAGATGAAAG -3'
(R):5'- AAATTGCAAATTTCTTCTGTCACCC -3'

Posted On

2016-06-06