Mutagenetix > Incidental Mutation

Incidental Mutation 'R5663:Or4e1'

444222

Institutional Source

Beutler Lab

Gene Symbol

Or4e1

Ensembl Gene

ENSMUSG00000057564

Gene Name

olfactory receptor family 4 subfamily E member 1

Synonyms

GA_x6K02T2RJGY-520647-521579, MOR244-4, MOR244-2, Olfr1508, MOR10

MMRRC Submission

043306-MU

Accession Numbers

Essential gene?

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

Stock #

R5663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52700178-52704918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52701052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 138 (I138K)

Ref Sequence

ENSEMBL: ENSMUSP00000145649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000205811] [ENSMUST00000206520]

AlphaFold

Q9R0K4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000107167
Gene: ENSMUSG00000057564
AA Change: I111K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	308	3.9e-48	PFAM
Pfam:7TM_GPCR_Srsx	38	305	1.7e-7	PFAM
Pfam:7tm_1	44	290	1.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205811
AA Change: I111K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000206520
AA Change: I138K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	T	C	5: 50,156,627 (GRCm39)	N368D	probably benign	Het
Agfg1	T	A	1: 82,871,173 (GRCm39)	S444R	probably damaging	Het
Arhgap44	A	T	11: 64,915,117 (GRCm39)	F384I	probably damaging	Het
Atp8b2	T	C	3: 89,849,101 (GRCm39)	N1078D	probably benign	Het
Bcan	G	A	3: 87,902,920 (GRCm39)	T286I	probably damaging	Het
Cacna1d	A	G	14: 29,845,297 (GRCm39)	L624P	probably damaging	Het
Ccn5	G	A	2: 163,667,173 (GRCm39)	R58Q	probably damaging	Het
Cimip1	C	T	2: 173,369,690 (GRCm39)	P68L	probably damaging	Het
Dnah7c	C	A	1: 46,574,308 (GRCm39)	F994L	probably damaging	Het
Dpp6	A	G	5: 27,254,620 (GRCm39)	I12V	possibly damaging	Het
Edil3	A	G	13: 89,190,627 (GRCm39)	I101M	probably damaging	Het
Elapor1	T	C	3: 108,399,399 (GRCm39)	T64A	probably benign	Het
Farp2	T	C	1: 93,497,735 (GRCm39)	V255A	probably damaging	Het
Fhip1a	T	C	3: 85,579,740 (GRCm39)	T822A	probably benign	Het
Fzr1	A	G	10: 81,206,360 (GRCm39)	S137P	probably benign	Het
H2-Eb2	T	C	17: 34,552,382 (GRCm39)	F76L	possibly damaging	Het
Helb	A	G	10: 119,941,698 (GRCm39)	I330T	possibly damaging	Het
Il18rap	T	A	1: 40,570,717 (GRCm39)	C220S	probably damaging	Het
Kdm4c	T	C	4: 74,317,585 (GRCm39)	V966A	probably damaging	Het
Kdm5b	T	C	1: 134,558,373 (GRCm39)	V1460A	probably benign	Het
Kif15	T	A	9: 122,820,916 (GRCm39)		probably null	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Lrrc37	A	G	11: 103,503,949 (GRCm39)	V497A	probably benign	Het
Masp1	T	C	16: 23,271,688 (GRCm39)	E621G	possibly damaging	Het
Mier1	T	A	4: 103,007,739 (GRCm39)	S285T	probably damaging	Het
Mroh6	A	G	15: 75,760,437 (GRCm39)	S46P	probably benign	Het
Myo1h	A	T	5: 114,472,155 (GRCm39)	Q395L	probably damaging	Het
Ndufb5	T	C	3: 32,801,898 (GRCm39)	I86T	possibly damaging	Het
Nelfb	T	A	2: 25,093,501 (GRCm39)	E417V	probably benign	Het
Nfkb1	T	G	3: 135,309,612 (GRCm39)	D494A	possibly damaging	Het
Nid1	G	A	13: 13,647,419 (GRCm39)	C395Y	probably damaging	Het
Nr4a3	G	T	4: 48,055,931 (GRCm39)	R319I	probably damaging	Het
Or2ag13	T	A	7: 106,472,877 (GRCm39)	T192S	probably benign	Het
Or6f2	G	A	7: 139,756,234 (GRCm39)	C67Y	probably damaging	Het
Paqr5	A	G	9: 61,876,144 (GRCm39)	V130A	probably benign	Het
Phlpp2	G	A	8: 110,630,976 (GRCm39)	V207I	probably benign	Het
Pik3ca	C	T	3: 32,516,928 (GRCm39)	T1052M	probably damaging	Het
Pikfyve	T	C	1: 65,255,187 (GRCm39)	Y347H	probably benign	Het
Ptprz1	A	G	6: 23,035,142 (GRCm39)	H1964R	probably damaging	Het
Rassf7	C	T	7: 140,797,003 (GRCm39)	T72I	probably damaging	Het
Rfx3	A	G	19: 27,771,017 (GRCm39)	F603S	probably damaging	Het
Slc27a4	T	A	2: 29,702,382 (GRCm39)	V477D	probably damaging	Het
Slc9a3	A	C	13: 74,311,831 (GRCm39)	D593A	probably damaging	Het
Smyd1	A	G	6: 71,216,705 (GRCm39)	I14T	probably benign	Het
Sox6	T	A	7: 115,149,289 (GRCm39)	I404L	probably benign	Het
Tas2r121	G	A	6: 132,677,520 (GRCm39)	H151Y	probably benign	Het
Tgfb1	C	T	7: 25,393,706 (GRCm39)	T192M	possibly damaging	Het
Ubr4	T	C	4: 139,155,894 (GRCm39)	Y2240H	possibly damaging	Het
Whrn	T	A	4: 63,336,685 (GRCm39)	N626Y	probably damaging	Het
Xrra1	T	A	7: 99,535,250 (GRCm39)	I185N	probably damaging	Het
Zfp94	G	A	7: 24,002,252 (GRCm39)	R397W	probably damaging	Het

Other mutations in Or4e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Or4e1	APN	14	52,700,822 (GRCm39)	missense	probably damaging	0.98
IGL02601:Or4e1	APN	14	52,700,802 (GRCm39)	nonsense	probably null
IGL02635:Or4e1	APN	14	52,701,251 (GRCm39)	missense	probably damaging	1.00
R0139:Or4e1	UTSW	14	52,700,669 (GRCm39)	missense	probably damaging	0.98
R0501:Or4e1	UTSW	14	52,701,383 (GRCm39)	start codon destroyed	possibly damaging	0.79
R0600:Or4e1	UTSW	14	52,700,966 (GRCm39)	missense	probably benign	0.00
R0612:Or4e1	UTSW	14	52,701,008 (GRCm39)	missense	probably benign	0.00
R1691:Or4e1	UTSW	14	52,701,288 (GRCm39)	missense	possibly damaging	0.95
R4290:Or4e1	UTSW	14	52,701,442 (GRCm39)	missense	probably damaging	1.00
R4837:Or4e1	UTSW	14	52,701,103 (GRCm39)	missense	probably damaging	1.00
R4946:Or4e1	UTSW	14	52,700,740 (GRCm39)	missense	probably damaging	1.00
R5073:Or4e1	UTSW	14	52,701,032 (GRCm39)	missense	probably damaging	1.00
R5135:Or4e1	UTSW	14	52,701,311 (GRCm39)	missense	probably benign	0.00
R5384:Or4e1	UTSW	14	52,700,714 (GRCm39)	missense	probably benign	0.41
R5861:Or4e1	UTSW	14	52,700,953 (GRCm39)	missense	probably damaging	1.00
R6244:Or4e1	UTSW	14	52,701,352 (GRCm39)	missense	probably damaging	1.00
R7040:Or4e1	UTSW	14	52,700,932 (GRCm39)	missense	possibly damaging	0.88
R7216:Or4e1	UTSW	14	52,700,945 (GRCm39)	missense	probably damaging	1.00
R7560:Or4e1	UTSW	14	52,700,851 (GRCm39)	missense	probably damaging	1.00
R8310:Or4e1	UTSW	14	52,701,280 (GRCm39)	missense	probably damaging	1.00
R8691:Or4e1	UTSW	14	52,701,358 (GRCm39)	missense	possibly damaging	0.46
R8942:Or4e1	UTSW	14	52,700,692 (GRCm39)	missense	probably damaging	0.98
R9185:Or4e1	UTSW	14	52,700,984 (GRCm39)	missense	probably benign	0.33
R9218:Or4e1	UTSW	14	52,700,788 (GRCm39)	missense	probably damaging	0.97
R9516:Or4e1	UTSW	14	52,700,873 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CACAGAGATCAGCCCACTGTTG -3'
(R):5'- TGTCACTGTCCCAAAGATGC -3'

Sequencing Primer
(F):5'- AGAATCTCAATGATGTGGGTGTCAG -3'
(R):5'- AGATGCTGAGTGACACCTTC -3'

Posted On

2016-11-09