Mutagenetix > Incidental Mutation

Incidental Mutation 'R4597:Or7e169'

344451

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

041813-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19756919-19761043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19756987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 309 (I309M)

Ref Sequence

ENSEMBL: ENSMUSP00000148568 (fasta)

Gene Model

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

AlphaFold

Q8VFF7

Predicted Effect

probably benign
Transcript: ENSMUST00000086482
AA Change: I309M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130735
Gene: ENSMUSG00000066905
AA Change: I309M

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 benign
Transcript: ENSMUST00000212353
AA Change: I309M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212838

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (67/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	T	A	2: 103,856,500 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,214 (GRCm39)	M229K	possibly damaging	Het
Adh5	T	C	3: 138,151,118 (GRCm39)	V27A	probably damaging	Het
Ank2	A	T	3: 126,781,800 (GRCm39)	D843E	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arid2	A	G	15: 96,268,737 (GRCm39)	N950S	probably damaging	Het
Arl1	A	T	10: 88,566,608 (GRCm39)		probably benign	Het
Bcl3	T	G	7: 19,546,428 (GRCm39)	I136L	probably damaging	Het
Car9	T	A	4: 43,509,138 (GRCm39)	S235R	probably damaging	Het
Carnmt1	G	T	19: 18,648,451 (GRCm39)	G30W	probably damaging	Het
Casp12	C	T	9: 5,348,941 (GRCm39)	T101I	possibly damaging	Het
Cdh23	A	G	10: 60,244,823 (GRCm39)	L1026P	probably damaging	Het
Clec10a	A	T	11: 70,060,806 (GRCm39)	Y186F	probably damaging	Het
Col22a1	G	T	15: 71,836,511 (GRCm39)	A508E	possibly damaging	Het
Crocc	G	C	4: 140,747,088 (GRCm39)	S1573R	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,191 (GRCm39)	T231K	possibly damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Ehbp1l1	T	C	19: 5,767,955 (GRCm39)	E1116G	possibly damaging	Het
Fam83d	T	C	2: 158,627,142 (GRCm39)	V277A	possibly damaging	Het
Fga	G	T	3: 82,938,542 (GRCm39)	G306*	probably null	Het
Fkbp9	A	G	6: 56,809,367 (GRCm39)	Y59C	probably damaging	Het
Frmpd1	A	G	4: 45,274,441 (GRCm39)	T450A	probably benign	Het
Gabbr1	A	G	17: 37,367,791 (GRCm39)	M414V	possibly damaging	Het
Gm16506	A	G	14: 43,962,572 (GRCm39)	F112L	unknown	Het
Gm27047	T	C	6: 130,607,299 (GRCm39)		noncoding transcript	Het
Gm4353	T	A	7: 115,682,847 (GRCm39)	K245*	probably null	Het
Gm4950	A	T	18: 51,998,865 (GRCm39)	I30N	probably benign	Het
H1f5	A	T	13: 21,964,681 (GRCm39)	V15E	probably damaging	Het
H2-M10.2	T	C	17: 36,596,285 (GRCm39)	T187A	probably benign	Het
H60c	A	T	10: 3,209,968 (GRCm39)	N106K	possibly damaging	Het
Hoxa6	T	C	6: 52,185,387 (GRCm39)		probably null	Het
Ighv1-74	A	G	12: 115,766,276 (GRCm39)	C115R	probably damaging	Het
Il17a	G	A	1: 20,801,217 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,672,582 (GRCm39)	Y199H	probably damaging	Het
Itpr3	C	T	17: 27,312,257 (GRCm39)	R554C	probably damaging	Het
Kcnc3	T	A	7: 44,245,240 (GRCm39)	M510K	probably damaging	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kif26b	A	T	1: 178,744,358 (GRCm39)	S1485C	probably damaging	Het
Klhl2	C	A	8: 65,207,421 (GRCm39)	G313W	probably damaging	Het
Klhl32	C	T	4: 24,629,339 (GRCm39)	S476N	probably benign	Het
Krt1	C	T	15: 101,756,063 (GRCm39)	E386K	possibly damaging	Het
Lats1	T	C	10: 7,567,510 (GRCm39)	S94P	probably benign	Het
Ltf	G	A	9: 110,852,001 (GRCm39)	C146Y	probably damaging	Het
Mars1	A	G	10: 127,136,322 (GRCm39)	L501P	probably damaging	Het
Myh2	A	C	11: 67,080,244 (GRCm39)	I1153L	probably benign	Het
Ncstn	A	T	1: 171,895,823 (GRCm39)	Y522*	probably null	Het
Nipal4	A	G	11: 46,042,156 (GRCm39)	V175A	probably damaging	Het
Pcdha1	C	G	18: 37,064,959 (GRCm39)	A541G	possibly damaging	Het
Pex11g	A	G	8: 3,514,043 (GRCm39)	Y40H	probably damaging	Het
Pira13	T	A	7: 3,825,154 (GRCm39)	Y496F	possibly damaging	Het
Qrfprl	T	C	6: 65,424,408 (GRCm39)		probably null	Het
Rin2	G	T	2: 145,702,825 (GRCm39)	R507L	probably benign	Het
Sh2b2	T	C	5: 136,260,616 (GRCm39)	D200G	probably damaging	Het
Smg7	C	A	1: 152,716,052 (GRCm39)		probably null	Het
Snx17	T	C	5: 31,355,857 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,741,255 (GRCm39)	Y510C	probably benign	Het
Spata31d1c	T	A	13: 65,183,427 (GRCm39)	L323*	probably null	Het
Supt16	C	T	14: 52,411,046 (GRCm39)	G686D	probably damaging	Het
Szt2	C	T	4: 118,229,878 (GRCm39)	R2751H	unknown	Het
Tnfsf8	A	G	4: 63,755,337 (GRCm39)	L95P	probably damaging	Het
Vmn2r17	A	G	5: 109,577,428 (GRCm39)	H493R	probably benign	Het
Zfp770	C	T	2: 114,027,251 (GRCm39)	A273T	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
R1941:Or7e169	UTSW	9	19,757,246 (GRCm39)	missense	probably damaging	0.99
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
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'- ATGTAACTTGAACAGGCACAGC -3'
(R):5'- AAGCGTTCTCTACTTGTGGATCTC -3'

Sequencing Primer
(F):5'- GGCACAGCAAGATACATTTAGATTC -3'
(R):5'- ACTTGTGGATCTCATCTGTCAG -3'

Posted On

2015-09-25