Mutagenetix > Incidental Mutation

Incidental Mutation 'R4498:Or7e173'

331701

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

041751-MU

Accession Numbers

Essential gene?

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

Stock #

R4498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19938255-19939331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 19939029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 68 (N68K)

Ref Sequence

ENSEMBL: ENSMUSP00000054864 (fasta)

Gene Model

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

AlphaFold

Q8VFI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062248
AA Change: N68K

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054864
Gene: ENSMUSG00000050803
AA Change: N68K

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

Meta Mutation Damage Score

0.4621

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

91% (53/58)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	G	A	15: 81,779,486 (GRCm39)	A97T	probably damaging	Het
Acot9	T	A	X: 154,047,064 (GRCm39)	L18*	probably null	Het
Arhgap12	A	T	18: 6,111,774 (GRCm39)	C69S	probably damaging	Het
Ccdc17	G	T	4: 116,454,438 (GRCm39)		probably benign	Het
Ctnnd2	A	C	15: 30,620,020 (GRCm39)	D124A	probably damaging	Het
Cux1	T	C	5: 136,341,847 (GRCm39)	N424S	probably damaging	Het
Dhrs7c	T	C	11: 67,706,706 (GRCm39)	F214S	possibly damaging	Het
Fat2	T	C	11: 55,160,923 (GRCm39)	D3269G	possibly damaging	Het
Fhod3	T	A	18: 25,243,296 (GRCm39)		probably null	Het
Glul	G	T	1: 153,782,849 (GRCm39)	G187*	probably null	Het
Gnmt	ATTAGGGGATGGTCTTAGGG	ATTAGGG	17: 47,036,662 (GRCm39)	294	probably benign	Het
H2-Q7	A	T	17: 35,658,506 (GRCm39)	Y48F	probably damaging	Het
Hes3	T	C	4: 152,371,542 (GRCm39)	T136A	probably benign	Het
Krt40	T	C	11: 99,433,900 (GRCm39)	T29A	possibly damaging	Het
Lrrc37a	C	A	11: 103,392,624 (GRCm39)	D934Y	probably benign	Het
Mctp2	T	A	7: 71,833,599 (GRCm39)	D581V	probably damaging	Het
Med27	T	C	2: 29,361,354 (GRCm39)	S38P	probably damaging	Het
Mff	A	G	1: 82,719,501 (GRCm39)		probably benign	Het
Mmadhc	T	C	2: 50,170,236 (GRCm39)	K292R	probably benign	Het
Mmp24	A	G	2: 155,655,908 (GRCm39)	I449V	possibly damaging	Het
Mthfd1	G	T	12: 76,361,764 (GRCm39)	L123F	probably damaging	Het
Mug2	T	A	6: 122,059,711 (GRCm39)	L1363Q	probably damaging	Het
Myh4	T	C	11: 67,142,578 (GRCm39)	I913T	probably damaging	Het
Myo16	T	A	8: 10,485,869 (GRCm39)	N649K	probably benign	Het
Myo7b	A	G	18: 32,147,282 (GRCm39)	I87T	probably benign	Het
Ndst4	A	G	3: 125,232,007 (GRCm39)	D192G	probably damaging	Het
Nup155	A	G	15: 8,183,157 (GRCm39)	D1239G	possibly damaging	Het
Or5b21	T	C	19: 12,840,033 (GRCm39)	V298A	probably damaging	Het
Phf10	T	A	17: 15,165,377 (GRCm39)	N493I	probably benign	Het
Pramel32	A	T	4: 88,547,129 (GRCm39)		probably null	Het
Prr12	T	C	7: 44,695,338 (GRCm39)	E1376G	unknown	Het
Rasa3	T	C	8: 13,664,587 (GRCm39)	H75R	probably benign	Het
Rin3	G	A	12: 102,335,939 (GRCm39)	V537M	probably damaging	Het
Samd4	C	T	14: 47,333,566 (GRCm39)	T272I	probably damaging	Het
Septin5	C	T	16: 18,442,142 (GRCm39)	G257D	probably damaging	Het
Serpina6	T	C	12: 103,620,326 (GRCm39)	K141R	probably benign	Het
Siglecf	T	A	7: 43,001,700 (GRCm39)	I170N	possibly damaging	Het
Spopl	C	T	2: 23,407,957 (GRCm39)	V241M	probably damaging	Het
Stk40	G	A	4: 126,023,544 (GRCm39)		probably null	Het
Syne1	A	G	10: 4,981,768 (GRCm39)	S8700P	probably benign	Het
Tbc1d4	C	T	14: 101,845,772 (GRCm39)	G42E	probably damaging	Het
Tfap2c	C	T	2: 172,399,102 (GRCm39)	Q425*	probably null	Het
Tmem255b	T	C	8: 13,505,998 (GRCm39)	S202P	probably damaging	Het
Traf6	T	C	2: 101,514,891 (GRCm39)	S16P	probably benign	Het
Ttc12	A	G	9: 49,383,705 (GRCm39)	I66T	probably damaging	Het
Ttc21a	G	A	9: 119,787,885 (GRCm39)	D818N	possibly damaging	Het
Zfp81	A	T	17: 33,553,677 (GRCm39)	I379N	possibly damaging	Het
Zgrf1	C	A	3: 127,379,749 (GRCm39)	S211*	probably null	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
R5084:Or7e173	UTSW	9	19,938,551 (GRCm39)	missense	probably damaging	0.99
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'- AAGGCAATCAAATTGTGCAGC -3'
(R):5'- GATGTCTTGGAATTCCATCTCATG -3'

Sequencing Primer
(F):5'- TGGCCACAAATCGGTCATAAG -3'
(R):5'- TCATGGCACTCTCCGAGGATC -3'

Posted On

2015-07-21