Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4581001:Or6e1'

556528

Institutional Source

Beutler Lab

Gene Symbol

Or6e1

Ensembl Gene

ENSMUSG00000048153

Gene Name

olfactory receptor family 6 subfamily E member 1

Synonyms

Olfr49, IC6, GA_x6K02T2QVSB-39745261-39746202, MOR118-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

PIT4581001 (G1)

Quality Score

205.009

Status

Not validated

Chromosome

Chromosomal Location

54519353-54520382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54519995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 119 (D119V)

Ref Sequence

ENSEMBL: ENSMUSP00000149840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059996] [ENSMUST00000216214]

AlphaFold

Q9Z1V0

Predicted Effect

probably damaging
Transcript: ENSMUST00000059996
AA Change: D119V

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

SMART Domains

Protein: ENSMUSP00000054361
Gene: ENSMUSG00000048153
AA Change: D119V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	4.4e-51	PFAM
Pfam:7tm_1	39	289	3.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216214
AA Change: D119V

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

Coding Region Coverage

1x: 92.9%
3x: 90.6%
10x: 84.5%
20x: 71.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,251,139 (GRCm39)	H522R	probably benign	Het
Adcy8	A	T	15: 64,626,666 (GRCm39)	I724N	probably damaging	Het
Cdk2ap1rt	A	G	11: 48,716,971 (GRCm39)	I69T	possibly damaging	Het
Cstdc6	T	C	16: 36,143,294 (GRCm39)	I52V	probably benign	Het
Ctsj	A	T	13: 61,150,370 (GRCm39)	C210S	probably damaging	Het
Cyp2d12	A	G	15: 82,442,652 (GRCm39)	E365G	probably damaging	Het
Dbi	A	T	1: 120,047,642 (GRCm39)	V85E	probably damaging	Het
Dhrs7b	A	G	11: 60,742,723 (GRCm39)	I153M	possibly damaging	Het
Dock10	C	A	1: 80,483,163 (GRCm39)	C2096F	probably damaging	Het
Eid3	T	A	10: 82,703,589 (GRCm39)	I350K	probably damaging	Het
Fam83b	A	T	9: 76,398,434 (GRCm39)	F890I	probably damaging	Het
Fras1	G	A	5: 96,703,160 (GRCm39)	D308N	probably benign	Het
Ftsj3	T	C	11: 106,140,302 (GRCm39)	D822G	unknown	Het
Gabra5	T	C	7: 57,138,605 (GRCm39)	T148A	probably damaging	Het
Gad1	A	G	2: 70,430,011 (GRCm39)	D526G	probably benign	Het
Gm21698	T	A	5: 26,192,350 (GRCm39)	T79S	probably benign	Het
Gon4l	T	G	3: 88,802,821 (GRCm39)	V1144G	probably damaging	Het
Ighv1-24	A	T	12: 114,736,803 (GRCm39)	N32K	probably benign	Het
Islr	T	C	9: 58,064,484 (GRCm39)	N341S	possibly damaging	Het
Mybph	A	G	1: 134,122,479 (GRCm39)	T175A	probably benign	Het
Mycn	T	C	12: 12,990,244 (GRCm39)	K51E	possibly damaging	Het
Myh14	T	C	7: 44,262,906 (GRCm39)	N1763D	probably benign	Het
Myrip	T	C	9: 120,296,583 (GRCm39)	S831P	probably damaging	Het
Neb	G	T	2: 52,178,814 (GRCm39)	A1314E	probably damaging	Het
Notch2	T	C	3: 98,011,778 (GRCm39)	Y599H	probably damaging	Het
Npr1	C	A	3: 90,369,564 (GRCm39)	G387V	probably damaging	Het
Orai2	G	A	5: 136,179,364 (GRCm39)	T223M	probably damaging	Het
Pcdhga5	A	G	18: 37,829,910 (GRCm39)	E786G	probably benign	Het
Pde6b	A	G	5: 108,576,374 (GRCm39)	T749A	probably benign	Het
Pdzrn3	A	G	6: 101,128,464 (GRCm39)	V734A	probably benign	Het
Pkd1l1	GCC	GCCC	11: 8,866,298 (GRCm39)		probably null	Het
Recql5	C	A	11: 115,823,682 (GRCm39)	K21N	possibly damaging	Het
Rimbp3	G	A	16: 17,028,580 (GRCm39)	S668N	possibly damaging	Het
Sdr42e1	A	T	8: 118,390,257 (GRCm39)	I128N	probably damaging	Het
Shprh	TAAAA	T	10: 11,068,238 (GRCm39)		probably null	Het
Slc15a2	A	T	16: 36,592,405 (GRCm39)	C251S	probably benign	Het
Slc17a4	A	T	13: 24,086,001 (GRCm39)	S329T	probably damaging	Het
Slc35a1	A	G	4: 34,669,501 (GRCm39)	V246A	possibly damaging	Het
Slc37a2	A	T	9: 37,148,701 (GRCm39)	S260R	probably benign	Het
Slco6d1	A	T	1: 98,351,050 (GRCm39)	I177L	possibly damaging	Het
Tmcc1	A	G	6: 116,020,417 (GRCm39)	V345A		Het
Tmod2	T	C	9: 75,504,583 (GRCm39)	Y12C	probably damaging	Het
Top2a	A	T	11: 98,893,790 (GRCm39)	W1035R	probably damaging	Het
Trpc1	A	G	9: 95,618,974 (GRCm39)	S126P	probably benign	Het
Ttn	A	G	2: 76,564,305 (GRCm39)	S28576P	probably damaging	Het
Vmn1r16	A	T	6: 57,299,858 (GRCm39)	W255R	probably benign	Het
Vmn2r5	T	A	3: 64,411,348 (GRCm39)	K407*	probably null	Het
Vps13b	G	T	15: 35,534,409 (GRCm39)	W908C	probably damaging	Het
Ykt6	A	G	11: 5,912,747 (GRCm39)	K150E	possibly damaging	Het
Zbtb2	A	G	10: 4,319,265 (GRCm39)	Y254H	possibly damaging	Het
Zfp217	A	G	2: 169,956,503 (GRCm39)	S832P	probably benign	Het
Zfp595	A	G	13: 67,465,949 (GRCm39)	S108P	probably benign	Het
Zfp786	A	T	6: 47,796,756 (GRCm39)	F727L	probably damaging	Het
Zzef1	G	A	11: 72,790,498 (GRCm39)	V2151I	probably benign	Het

Other mutations in Or6e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Or6e1	APN	14	54,520,181 (GRCm39)	missense	probably damaging	1.00
IGL02197:Or6e1	APN	14	54,519,409 (GRCm39)	makesense	probably null
R4095:Or6e1	UTSW	14	54,520,188 (GRCm39)	missense	probably benign	0.38
R4673:Or6e1	UTSW	14	54,519,789 (GRCm39)	missense	possibly damaging	0.71
R4795:Or6e1	UTSW	14	54,520,004 (GRCm39)	missense	probably damaging	1.00
R4867:Or6e1	UTSW	14	54,520,086 (GRCm39)	missense	probably benign	0.21
R5206:Or6e1	UTSW	14	54,520,155 (GRCm39)	missense	probably benign
R5567:Or6e1	UTSW	14	54,519,825 (GRCm39)	missense	probably damaging	1.00
R5570:Or6e1	UTSW	14	54,519,825 (GRCm39)	missense	probably damaging	1.00
R5806:Or6e1	UTSW	14	54,520,264 (GRCm39)	missense	probably benign
R5848:Or6e1	UTSW	14	54,520,022 (GRCm39)	missense	possibly damaging	0.90
R7012:Or6e1	UTSW	14	54,519,674 (GRCm39)	missense	possibly damaging	0.84
R7680:Or6e1	UTSW	14	54,519,837 (GRCm39)	missense	probably damaging	0.98
R7787:Or6e1	UTSW	14	54,520,169 (GRCm39)	missense	probably damaging	1.00
R8252:Or6e1	UTSW	14	54,519,704 (GRCm39)	missense	possibly damaging	0.95
R8819:Or6e1	UTSW	14	54,520,070 (GRCm39)	missense	probably benign	0.13
R8820:Or6e1	UTSW	14	54,520,070 (GRCm39)	missense	probably benign	0.13
R9057:Or6e1	UTSW	14	54,520,148 (GRCm39)	missense	probably damaging	1.00
R9171:Or6e1	UTSW	14	54,520,329 (GRCm39)	missense	probably benign	0.01
R9495:Or6e1	UTSW	14	54,520,137 (GRCm39)	missense	probably damaging	0.99
R9666:Or6e1	UTSW	14	54,520,342 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGAAATTGGCAATAACAAAACC -3'
(R):5'- TTTGCCATGCTGGAGATCTG -3'

Sequencing Primer
(F):5'- CCAGGCTGGTATCTGCACATATG -3'
(R):5'- CCATGCTGGAGATCTGGTTCAC -3'

Posted On

2019-06-07