Mutagenetix > Incidental Mutation

Incidental Mutation 'R1941:Or7e169'

214012

Institutional Source

Beutler Lab

Gene Symbol

Or7e169

Ensembl Gene

ENSMUSG00000066905

Gene Name

olfactory receptor family 7 subfamily E member 169

Synonyms

GA_x6K02T2PVTD-13586614-13585661, Olfr860, MOR146-2

MMRRC Submission

039959-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1941 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19756919-19761043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19757246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 223 (S223F)

Ref Sequence

ENSEMBL: ENSMUSP00000148568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086482] [ENSMUST00000211924] [ENSMUST00000212353]

AlphaFold

Q8VFF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000086482
AA Change: S223F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130735
Gene: ENSMUSG00000066905
AA Change: S223F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.5e-56	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.1e-8	PFAM
Pfam:7tm_1	41	290	9.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211924

Predicted Effect

probably damaging
Transcript: ENSMUST00000212353
AA Change: S223F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212838

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.8%
20x: 91.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Art2b	A	C	7: 101,229,524 (GRCm39)	F125C	probably damaging	Het
Camta1	T	C	4: 151,159,612 (GRCm39)	Y1616C	probably damaging	Het
Cep162	T	G	9: 87,082,048 (GRCm39)	I1286L	probably benign	Het
Chd9	T	A	8: 91,703,697 (GRCm39)		probably null	Het
Col11a2	T	A	17: 34,263,925 (GRCm39)	S247T	probably benign	Het
Col6a4	T	G	9: 105,952,209 (GRCm39)	D563A	probably benign	Het
Crebbp	C	T	16: 3,997,555 (GRCm39)	M176I	probably benign	Het
Cyp4a12b	A	G	4: 115,295,256 (GRCm39)	N454S	probably damaging	Het
Dhx8	T	C	11: 101,643,024 (GRCm39)		probably null	Het
Dock7	G	A	4: 98,872,952 (GRCm39)	L1165F	probably benign	Het
Fam117a	A	T	11: 95,271,624 (GRCm39)	N399Y	probably damaging	Het
Fmn1	A	G	2: 113,195,488 (GRCm39)	K396R	unknown	Het
Foxk1	T	A	5: 142,442,429 (GRCm39)	V693E	possibly damaging	Het
Gml	A	G	15: 74,689,020 (GRCm39)	L10P	probably damaging	Het
Gpx8	A	G	13: 113,182,809 (GRCm39)	L34P	probably damaging	Het
Kank2	A	G	9: 21,684,162 (GRCm39)	L689P	possibly damaging	Het
Mt4	G	A	8: 94,864,874 (GRCm39)	C16Y	possibly damaging	Het
Naa15	C	A	3: 51,363,355 (GRCm39)	Y346*	probably null	Het
Ntrk3	C	T	7: 77,897,010 (GRCm39)	V676I	probably damaging	Het
Oasl2	G	A	5: 115,049,423 (GRCm39)		probably benign	Het
Or1e1c	T	A	11: 73,266,447 (GRCm39)	F294I	probably damaging	Het
Or6c215	T	A	10: 129,638,281 (GRCm39)	M38L	probably benign	Het
Or6c8	T	G	10: 128,915,823 (GRCm39)	N3T	probably damaging	Het
Or7g20	A	C	9: 18,947,162 (GRCm39)	T248P	possibly damaging	Het
Otud7a	C	T	7: 63,379,574 (GRCm39)	R273*	probably null	Het
Pcare	T	G	17: 72,059,063 (GRCm39)	T205P	probably damaging	Het
Pde11a	C	T	2: 76,121,594 (GRCm39)	R329Q	probably benign	Het
Pga5	G	T	19: 10,646,820 (GRCm39)		probably null	Het
Ppp1r1a	A	G	15: 103,441,528 (GRCm39)		probably null	Het
Pus10	A	G	11: 23,661,198 (GRCm39)	Q262R	possibly damaging	Het
Rbm17	T	C	2: 11,593,885 (GRCm39)	K241R	possibly damaging	Het
Rp1l1	T	G	14: 64,259,701 (GRCm39)	D114E	probably damaging	Het
Safb	T	A	17: 56,905,992 (GRCm39)		probably benign	Het
Sgpl1	T	C	10: 60,939,086 (GRCm39)	Y371C	probably damaging	Het
Siglec1	C	A	2: 130,920,051 (GRCm39)	A827S	possibly damaging	Het
Smg5	T	A	3: 88,252,687 (GRCm39)	S158T	possibly damaging	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spaca6	A	G	17: 18,058,664 (GRCm39)	I71V	probably benign	Het
Spaca6	A	G	17: 18,058,692 (GRCm39)	E80G	probably damaging	Het
Steap1	C	A	5: 5,790,541 (GRCm39)	A136S	probably damaging	Het
Supv3l1	G	C	10: 62,285,391 (GRCm39)	P25R	probably benign	Het
Tex21	T	C	12: 76,268,458 (GRCm39)	K108R	possibly damaging	Het
Tnc	A	G	4: 63,933,201 (GRCm39)	Y688H	probably damaging	Het
Tnr	G	A	1: 159,677,704 (GRCm39)	E30K	possibly damaging	Het
Tnrc18	G	T	5: 142,800,905 (GRCm39)	P18T	probably damaging	Het
Ttk	T	G	9: 83,735,179 (GRCm39)	S422A	probably benign	Het
Ubap1	A	G	4: 41,378,968 (GRCm39)	K61E	probably damaging	Het
Ubr2	C	T	17: 47,284,952 (GRCm39)	R522H	probably damaging	Het
Vwf	A	T	6: 125,616,242 (GRCm39)	E1185D	possibly damaging	Het
Wwp2	A	G	8: 108,244,547 (GRCm39)	T194A	probably benign	Het
Zfp36	A	G	7: 28,077,071 (GRCm39)	V279A	probably damaging	Het
Zfp870	C	A	17: 33,101,778 (GRCm39)	R517L	possibly damaging	Het

Other mutations in Or7e169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Or7e169	APN	9	19,757,555 (GRCm39)	missense	probably damaging	1.00
IGL02216:Or7e169	APN	9	19,757,861 (GRCm39)	missense	probably damaging	0.99
IGL02269:Or7e169	APN	9	19,757,024 (GRCm39)	missense	possibly damaging	0.85
IGL02964:Or7e169	APN	9	19,757,550 (GRCm39)	nonsense	probably null
R0042:Or7e169	UTSW	9	19,757,075 (GRCm39)	missense	probably benign
R1505:Or7e169	UTSW	9	19,757,084 (GRCm39)	missense	probably benign	0.39
R2030:Or7e169	UTSW	9	19,757,709 (GRCm39)	missense	probably benign	0.30
R3150:Or7e169	UTSW	9	19,757,510 (GRCm39)	missense	possibly damaging	0.80
R4597:Or7e169	UTSW	9	19,756,987 (GRCm39)	missense	probably benign	0.01
R5004:Or7e169	UTSW	9	19,757,398 (GRCm39)	missense	probably benign	0.00
R5006:Or7e169	UTSW	9	19,757,567 (GRCm39)	missense	probably benign	0.33
R5350:Or7e169	UTSW	9	19,757,912 (GRCm39)	start codon destroyed	probably null	0.97
R6163:Or7e169	UTSW	9	19,757,024 (GRCm39)	missense	probably benign	0.45
R6368:Or7e169	UTSW	9	19,757,705 (GRCm39)	missense	probably damaging	1.00
R7206:Or7e169	UTSW	9	19,757,856 (GRCm39)	missense	probably damaging	0.99
R7315:Or7e169	UTSW	9	19,757,131 (GRCm39)	missense	probably damaging	0.99
R8195:Or7e169	UTSW	9	19,757,780 (GRCm39)	missense	probably damaging	0.99
R8537:Or7e169	UTSW	9	19,757,848 (GRCm39)	missense	probably damaging	0.96
R8546:Or7e169	UTSW	9	19,757,685 (GRCm39)	missense	probably damaging	0.99
R8803:Or7e169	UTSW	9	19,757,462 (GRCm39)	missense	possibly damaging	0.95
R9049:Or7e169	UTSW	9	19,757,045 (GRCm39)	missense	probably damaging	1.00
R9164:Or7e169	UTSW	9	19,757,504 (GRCm39)	missense	possibly damaging	0.73
R9254:Or7e169	UTSW	9	19,757,212 (GRCm39)	missense	possibly damaging	0.83
R9379:Or7e169	UTSW	9	19,757,212 (GRCm39)	missense	possibly damaging	0.83
R9513:Or7e169	UTSW	9	19,757,816 (GRCm39)	missense	possibly damaging	0.73
R9515:Or7e169	UTSW	9	19,757,816 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TTCCTCAAGCTGTAGATGAAGG -3'
(R):5'- GCACTGCTTTATGGTGTCAC -3'

Sequencing Primer
(F):5'- CAAGCTGTAGATGAAGGGGTTTATC -3'
(R):5'- CTGTGATGTTCCAGAGCTT -3'

Posted On

2014-07-14