Mutagenetix > Incidental Mutation

Incidental Mutation 'R5861:Or4e1'

453937

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

044073-MU

Accession Numbers

Essential gene?

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

Stock #

R5861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52700178-52704918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52700953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 171 (Y171C)

Ref Sequence

ENSEMBL: ENSMUSP00000145649 (fasta)

Gene Model

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

AlphaFold

Q9R0K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000111542
AA Change: Y144C

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

SMART Domains

Protein: ENSMUSP00000107167
Gene: ENSMUSG00000057564
AA Change: Y144C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206520
AA Change: Y171C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1430

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

98% (81/83)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,644 (GRCm39)	T246N	probably damaging	Het
Aopep	A	G	13: 63,446,626 (GRCm39)	D143G	probably damaging	Het
Arhgap10	C	T	8: 78,037,393 (GRCm39)	A612T	probably damaging	Het
Arsg	T	A	11: 109,454,014 (GRCm39)	F407I	probably damaging	Het
Asxl1	C	A	2: 153,241,310 (GRCm39)	A620D	probably damaging	Het
C2cd3	A	G	7: 100,093,682 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,267,359 (GRCm39)	V92I	probably damaging	Het
Cog2	T	C	8: 125,264,617 (GRCm39)	F332S	probably damaging	Het
Crhbp	G	A	13: 95,580,333 (GRCm39)	A82V	probably damaging	Het
Cyp2j6	A	G	4: 96,434,040 (GRCm39)	V90A	possibly damaging	Het
Dennd4c	A	T	4: 86,709,589 (GRCm39)	M397L	probably benign	Het
Dnajb8	A	G	6: 88,200,088 (GRCm39)	D208G	possibly damaging	Het
Ecm1	G	C	3: 95,643,909 (GRCm39)	L230V	probably damaging	Het
Ercc2	G	C	7: 19,128,066 (GRCm39)	A696P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm13035	A	G	4: 146,009,859 (GRCm39)		noncoding transcript	Het
Gm28042	T	C	2: 119,865,116 (GRCm39)	V247A	probably damaging	Het
Gm28455	T	A	7: 39,148,003 (GRCm39)		noncoding transcript	Het
Gpr150	A	T	13: 76,204,192 (GRCm39)	V251D	possibly damaging	Het
Grip1	C	T	10: 119,765,875 (GRCm39)	S69L	probably damaging	Het
Hs6st3	A	G	14: 119,376,265 (GRCm39)	I147V	possibly damaging	Het
Il5	G	A	11: 53,614,743 (GRCm39)	E102K	probably benign	Het
Kif1c	T	C	11: 70,594,621 (GRCm39)	F94L	probably damaging	Het
Lrrc63	T	C	14: 75,344,806 (GRCm39)	E427G	possibly damaging	Het
Man1b1	A	G	2: 25,238,066 (GRCm39)	T384A	probably benign	Het
Mapk15	C	A	15: 75,868,208 (GRCm39)		probably benign	Het
Mfsd10	T	C	5: 34,791,588 (GRCm39)		probably benign	Het
Mgat5	C	A	1: 127,315,129 (GRCm39)	A285E	probably damaging	Het
Mroh4	T	A	15: 74,478,456 (GRCm39)		probably benign	Het
Myf5	A	T	10: 107,320,069 (GRCm39)	C194S	probably benign	Het
Myh7	A	G	14: 55,226,347 (GRCm39)	V431A	possibly damaging	Het
Nadsyn1	A	C	7: 143,364,964 (GRCm39)	M247R	possibly damaging	Het
Nipsnap3b	A	G	4: 53,021,177 (GRCm39)	D166G	probably damaging	Het
Nqo2	A	T	13: 34,156,413 (GRCm39)	L42F	probably damaging	Het
Nt5dc3	A	T	10: 86,651,738 (GRCm39)	D180V	probably damaging	Het
Numa1	C	A	7: 101,658,494 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,052 (GRCm39)	L328Q	probably damaging	Het
Or5w17	A	T	2: 87,583,922 (GRCm39)	N138K	probably benign	Het
Or7a37	A	T	10: 78,805,765 (GRCm39)	Y94F	probably damaging	Het
Papolb	T	C	5: 142,514,992 (GRCm39)	N217S	possibly damaging	Het
Pcmtd2	C	A	2: 181,484,268 (GRCm39)	T26K	probably damaging	Het
Pld5	T	G	1: 175,917,571 (GRCm39)	N59H	probably damaging	Het
Ppm1d	T	C	11: 85,202,674 (GRCm39)	S126P	possibly damaging	Het
Ppp1r21	T	C	17: 88,889,937 (GRCm39)	L727P	probably damaging	Het
Pramel20	G	T	4: 143,297,810 (GRCm39)	V77L	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Rara	T	A	11: 98,858,987 (GRCm39)	C148*	probably null	Het
Rexo2	A	T	9: 48,386,481 (GRCm39)	I83N	probably damaging	Het
Rnf213	A	G	11: 119,364,203 (GRCm39)	R4501G	probably damaging	Het
Rps5	T	A	7: 12,659,501 (GRCm39)	F97L	probably damaging	Het
Sigirr	G	A	7: 140,671,292 (GRCm39)	R397W	probably damaging	Het
Slc6a6	T	C	6: 91,718,014 (GRCm39)	Y318H	probably damaging	Het
Spam1	A	G	6: 24,796,570 (GRCm39)	T174A	probably benign	Het
Stam2	G	T	2: 52,632,116 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,868,337 (GRCm39)	E348G	probably benign	Het
Taf11	T	C	17: 28,120,644 (GRCm39)	T209A	probably benign	Het
Tenm4	A	G	7: 96,492,424 (GRCm39)		probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Uevld	A	T	7: 46,576,104 (GRCm39)	S461T	probably benign	Het
Vmn2r6	T	A	3: 64,463,454 (GRCm39)	N460I	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zfp316	T	C	5: 143,249,095 (GRCm39)	Y180C	unknown	Het
Zfp941	A	G	7: 140,392,052 (GRCm39)	S436P	probably damaging	Het
Zfp979	G	A	4: 147,697,966 (GRCm39)	Q248*	probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
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'- GACAAGGCTTTCCTCTTGCC -3'
(R):5'- ACCTCTTTGCCTGCACAGAG -3'

Sequencing Primer
(F):5'- GTCAGAGATCTGTTGCCTCAGAC -3'
(R):5'- GCCTGCACAGAGATCTTCC -3'

Posted On

2017-02-10