Mutagenetix > Incidental Mutation

Incidental Mutation 'R8310:Or4e1'

641345

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

067795-MU

Accession Numbers

Essential gene?

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

Stock #

R8310 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52700178-52704918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52701280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 62 (M62T)

Ref Sequence

ENSEMBL: ENSMUSP00000145649 (fasta)

Gene Model

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

AlphaFold

Q9R0K4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000111542
AA Change: M35T

SMART Domains

Protein: ENSMUSP00000107167
Gene: ENSMUSG00000057564
AA Change: M35T

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 damaging
Transcript: ENSMUST00000205811
AA Change: M35T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206520
AA Change: M62T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (50/51)

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
A830005F24Rik	T	G	13: 48,667,727 (GRCm39)	W10G	unknown	Het
Abca13	A	T	11: 9,328,269 (GRCm39)	K3447N	possibly damaging	Het
Agtr1a	T	G	13: 30,565,745 (GRCm39)	V270G	probably benign	Het
Apob	A	T	12: 8,059,033 (GRCm39)	H2505L	probably benign	Het
Babam1	T	A	8: 71,850,629 (GRCm39)	V86D	possibly damaging	Het
Cacna1s	C	A	1: 136,015,075 (GRCm39)	N654K	probably damaging	Het
Ccdc146	A	T	5: 21,506,469 (GRCm39)		probably benign	Het
Ccdc8	T	C	7: 16,729,326 (GRCm39)	S272P	probably damaging	Het
Cnksr1	T	C	4: 133,956,730 (GRCm39)	E510G	probably damaging	Het
Cnot6l	A	T	5: 96,239,535 (GRCm39)	D255E	probably benign	Het
Ddx1	A	C	12: 13,274,280 (GRCm39)		probably benign	Het
Dyrk1a	A	G	16: 94,492,650 (GRCm39)	T628A	probably benign	Het
Elavl1	A	T	8: 4,351,786 (GRCm39)	I110N	probably damaging	Het
Emilin2	C	G	17: 71,562,141 (GRCm39)	D954H	probably damaging	Het
Erich3	C	T	3: 154,410,586 (GRCm39)	T147I		Het
Galnt1	A	T	18: 24,404,686 (GRCm39)	H341L	probably damaging	Het
Gm14325	A	T	2: 177,473,592 (GRCm39)	C497S	probably damaging	Het
Gm4922	A	T	10: 18,659,536 (GRCm39)	N395K	probably benign	Het
Hsd17b2	G	A	8: 118,469,155 (GRCm39)	C189Y	probably damaging	Het
Kcnn1	A	T	8: 71,305,449 (GRCm39)	S254T	possibly damaging	Het
Lce1l	G	C	3: 92,757,766 (GRCm39)	P31A	unknown	Het
Lrpprc	A	G	17: 85,080,524 (GRCm39)	Y199H	probably damaging	Het
Lrrtm3	A	T	10: 63,925,487 (GRCm39)		probably null	Het
Mon2	G	T	10: 122,838,688 (GRCm39)	A1598E	probably damaging	Het
Myh3	A	T	11: 66,986,833 (GRCm39)		probably null	Het
Naa11	A	T	5: 97,539,737 (GRCm39)	D140E	probably damaging	Het
Nadk2	G	A	15: 9,103,420 (GRCm39)	R350Q	probably benign	Het
Npc1	T	C	18: 12,326,455 (GRCm39)	I1162V	probably damaging	Het
Or5v1	T	C	17: 37,810,148 (GRCm39)	I202T	probably benign	Het
Otogl	A	T	10: 107,613,461 (GRCm39)	N2001K	possibly damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,171,912 (GRCm39)		probably null	Het
Ppp2r5c	A	T	12: 110,512,259 (GRCm39)	T185S	possibly damaging	Het
Psd2	A	T	18: 36,112,766 (GRCm39)	S154C	probably damaging	Het
Rnasel	G	A	1: 153,630,734 (GRCm39)	V417M	possibly damaging	Het
Slc35g2	A	G	9: 100,434,841 (GRCm39)	S277P	probably damaging	Het
Slc36a2	A	T	11: 55,070,158 (GRCm39)	W140R	possibly damaging	Het
Slc6a12	A	G	6: 121,340,250 (GRCm39)	K512E	probably damaging	Het
Sox7	C	T	14: 64,181,275 (GRCm39)	S24L	probably benign	Het
Specc1	A	G	11: 62,023,171 (GRCm39)	K659E	probably damaging	Het
Stx18	T	A	5: 38,285,383 (GRCm39)		probably null	Het
Svs5	C	A	2: 164,080,091 (GRCm39)	G25W	probably damaging	Het
Syne1	A	G	10: 5,297,829 (GRCm39)	M1156T	probably benign	Het
Tars2	T	A	3: 95,658,271 (GRCm39)	I185F	probably benign	Het
Thsd7a	T	C	6: 12,396,612 (GRCm39)	I839V		Het
Vmn1r115	T	C	7: 20,578,819 (GRCm39)	N31S	probably damaging	Het
Vmn1r57	A	G	7: 5,224,024 (GRCm39)	D183G	probably damaging	Het
Wdr7	C	T	18: 63,868,756 (GRCm39)	T275I	probably damaging	Het
Ybx2	A	G	11: 69,831,194 (GRCm39)	E263G	probably damaging	Het
Zbtb6	G	T	2: 37,319,896 (GRCm39)	Q11K	probably benign	Het
Zfp329	A	T	7: 12,544,116 (GRCm39)	C469*	probably null	Het
Zfp868	A	T	8: 70,066,446 (GRCm39)	L40H	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
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'- ACTGCAAAGGTTTACAAATAGCCAC -3'
(R):5'- GAAAAGGCTGTCCTCATCAACG -3'

Sequencing Primer
(F):5'- GGTTTACAAATAGCCACATAGCG -3'
(R):5'- CGAAACTTCAGTGATGTCATTTCGG -3'

Posted On

2020-07-28