Mutagenetix > Incidental Mutation

Incidental Mutation 'R9218:Or4e1'

699336

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

Accession Numbers

Essential gene?

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

Stock #

R9218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52700178-52704918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52700788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 226 (V226E)

Ref Sequence

ENSEMBL: ENSMUSP00000145649 (fasta)

Gene Model

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

AlphaFold

Q9R0K4

Predicted Effect

probably benign
Transcript: ENSMUST00000205811

Predicted Effect

probably damaging
Transcript: ENSMUST00000206520
AA Change: V226E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (57/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,460 (GRCm39)	T378A	probably damaging	Het
Abcb4	A	G	5: 8,977,960 (GRCm39)	M513V	probably benign	Het
Abhd18	T	C	3: 40,871,201 (GRCm39)		probably null	Het
Adamtsl4	A	T	3: 95,588,404 (GRCm39)	Y561*	probably null	Het
Alx4	T	A	2: 93,473,172 (GRCm39)	F57I	possibly damaging	Het
Ap3b1	A	G	13: 94,584,959 (GRCm39)		probably null	Het
Arsj	A	C	3: 126,232,114 (GRCm39)	N287H	probably benign	Het
Bltp3a	T	A	17: 28,114,529 (GRCm39)	C1387S	probably benign	Het
Cabp4	T	A	19: 4,188,693 (GRCm39)		probably null	Het
Cdcp3	C	T	7: 130,863,728 (GRCm39)	H1244Y	unknown	Het
Cdh6	T	C	15: 13,057,556 (GRCm39)	N255S	probably null	Het
Ctrb1	C	T	8: 112,416,140 (GRCm39)	V49M	probably damaging	Het
Cts3	A	G	13: 61,716,583 (GRCm39)	S18P	possibly damaging	Het
Dcst1	A	T	3: 89,272,412 (GRCm39)	I17N	probably benign	Het
Dennd5a	G	A	7: 109,507,592 (GRCm39)	H823Y	probably damaging	Het
Dmrt2	T	G	19: 25,651,066 (GRCm39)	L84R	possibly damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Fsip2	C	T	2: 82,823,062 (GRCm39)	P6265L	probably damaging	Het
Fxn	T	A	19: 24,239,388 (GRCm39)	K168M	probably damaging	Het
Hc	A	G	2: 34,922,203 (GRCm39)	L541P	probably damaging	Het
Hsd3b5	T	C	3: 98,526,354 (GRCm39)	H364R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Inf2	G	A	12: 112,567,858 (GRCm39)	D163N	possibly damaging	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Iqck	C	T	7: 118,540,902 (GRCm39)	A267V	probably damaging	Het
Kcnh1	A	T	1: 192,135,938 (GRCm39)	N66I	unknown	Het
Kif16b	T	A	2: 142,541,583 (GRCm39)	E1239V	possibly damaging	Het
Mctp1	A	G	13: 76,871,816 (GRCm39)	D362G	possibly damaging	Het
Muc5ac	T	A	7: 141,361,098 (GRCm39)	S1470T	probably damaging	Het
Neb	A	G	2: 52,183,638 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,312 (GRCm39)	L151*	probably null	Het
Or51f23c-ps1	T	C	7: 102,431,373 (GRCm39)	I230T	possibly damaging	Het
Otof	T	A	5: 30,542,469 (GRCm39)	Q693L	probably benign	Het
Pitpnm2	G	A	5: 124,265,344 (GRCm39)	S753F	probably damaging	Het
Pkd1l3	C	A	8: 110,382,128 (GRCm39)	S1632*	probably null	Het
Pkhd1l1	A	G	15: 44,384,122 (GRCm39)	T1171A	possibly damaging	Het
Plpp2	A	G	10: 79,366,501 (GRCm39)	F104L	probably damaging	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Pms2	G	A	5: 143,867,945 (GRCm39)	V850I	probably benign	Het
Psmd5	G	T	2: 34,747,794 (GRCm39)	Q288K	probably benign	Het
Rab37	G	A	11: 115,051,475 (GRCm39)	R194H	probably damaging	Het
Sds	C	T	5: 120,621,677 (GRCm39)	A273V	probably damaging	Het
Sema4f	A	G	6: 82,890,480 (GRCm39)	S776P	probably benign	Het
Sh3tc2	T	C	18: 62,101,101 (GRCm39)	C65R	probably benign	Het
Siglece	C	T	7: 43,307,162 (GRCm39)	R275H	possibly damaging	Het
Slc6a12	G	A	6: 121,335,623 (GRCm39)	A318T	probably damaging	Het
Smcr8	A	T	11: 60,670,705 (GRCm39)	I618L	probably benign	Het
Stt3a	A	G	9: 36,670,556 (GRCm39)	F72L	probably damaging	Het
Tecpr1	T	C	5: 144,154,049 (GRCm39)	K135E	possibly damaging	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Tnpo2	C	A	8: 85,776,609 (GRCm39)	H439N	possibly damaging	Het
Tut4	A	T	4: 108,370,083 (GRCm39)	K661*	probably null	Het
Txlnb	C	T	10: 17,718,570 (GRCm39)	S467F	probably damaging	Het
Tyw5	G	A	1: 57,435,948 (GRCm39)	P81S	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vmn1r220	T	A	13: 23,368,609 (GRCm39)	Y29F	probably benign	Het
Vmn2r80	A	G	10: 79,030,270 (GRCm39)	T699A	possibly damaging	Het
Vps9d1	G	A	8: 123,977,674 (GRCm39)	T87I	probably benign	Het
Zfhx3	T	C	8: 109,520,501 (GRCm39)	V541A	probably benign	Het
Zmym4	A	T	4: 126,809,415 (GRCm39)	L295Q	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
R5663:Or4e1	UTSW	14	52,701,052 (GRCm39)	missense	probably benign	0.12
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
R9516:Or4e1	UTSW	14	52,700,873 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAGGCACTCTTCATGTCCTC -3'
(R):5'- ATCAAGCTGCCCTACTGTGG -3'

Sequencing Primer
(F):5'- CATGTCCTCATTCCTAAGGGTGTAG -3'
(R):5'- ACTGTGGTCCTGATGAGATTGACAAC -3'

Posted On

2022-02-07