Mutagenetix > Incidental Mutation

Incidental Mutation 'R5763:Or1e33'

446132

Institutional Source

Beutler Lab

Gene Symbol

Or1e33

Ensembl Gene

ENSMUSG00000094488

Gene Name

olfactory receptor family 1 subfamily E member 33

Synonyms

MOR135-7, GA_x6K02T2P1NL-4004140-4003208, Olfr393

MMRRC Submission

043364-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73738011-73738949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73738693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 86 (Q86L)

Ref Sequence

ENSEMBL: ENSMUSP00000150031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102523] [ENSMUST00000213365]

AlphaFold

Q8VGR6

Predicted Effect

probably benign
Transcript: ENSMUST00000102523
AA Change: Q86L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000099582
Gene: ENSMUSG00000094488
AA Change: Q86L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.5e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.3e-7	PFAM
Pfam:7tm_1	41	290	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213365
AA Change: Q86L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.0841

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (70/72)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,670,768 (GRCm39)	H330R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Actl6b	T	A	5: 137,565,063 (GRCm39)	L314Q	possibly damaging	Het
Adam22	A	T	5: 8,184,544 (GRCm39)	C483S	probably damaging	Het
Adamts7	T	A	9: 90,070,462 (GRCm39)	L601H	probably damaging	Het
Agl	A	T	3: 116,547,009 (GRCm39)	D1280E	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Astn2	T	A	4: 65,647,568 (GRCm39)	M757L	probably benign	Het
Atr	A	G	9: 95,827,176 (GRCm39)	M2407V	probably benign	Het
Brca2	T	C	5: 150,471,471 (GRCm39)	F2283L	possibly damaging	Het
Brwd1	A	T	16: 95,835,043 (GRCm39)	Y940*	probably null	Het
Camk2g	A	T	14: 20,789,415 (GRCm39)	N218K	probably damaging	Het
Ces2a	C	T	8: 105,462,756 (GRCm39)	P115L	probably benign	Het
Col11a1	T	C	3: 113,888,245 (GRCm39)		probably benign	Het
Col1a2	T	A	6: 4,515,682 (GRCm39)	D150E	unknown	Het
Crybg3	A	G	16: 59,374,973 (GRCm39)	S2094P	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Ddx24	A	G	12: 103,383,673 (GRCm39)	F593L	probably damaging	Het
Dhx16	G	A	17: 36,192,580 (GRCm39)	E171K	possibly damaging	Het
Dnah5	T	C	15: 28,311,298 (GRCm39)	I1759T	probably damaging	Het
Dnah9	C	A	11: 65,846,065 (GRCm39)	S2991I	probably damaging	Het
Entpd7	G	T	19: 43,692,705 (GRCm39)	V87L	probably damaging	Het
Fam221a	T	G	6: 49,355,518 (GRCm39)	L207V	probably damaging	Het
Foxm1	T	A	6: 128,343,071 (GRCm39)	I135N	probably benign	Het
Gabpa	C	A	16: 84,657,297 (GRCm39)	Q391K	possibly damaging	Het
Gipr	T	A	7: 18,897,475 (GRCm39)	H111L	probably damaging	Het
Gmip	A	G	8: 70,270,501 (GRCm39)	D737G	probably damaging	Het
Herc6	T	A	6: 57,639,872 (GRCm39)	N995K	probably damaging	Het
Ldha	G	A	7: 46,497,213 (GRCm39)		probably benign	Het
Lrrc37	G	A	11: 103,504,469 (GRCm39)	P324S	probably damaging	Het
Masp1	T	C	16: 23,314,997 (GRCm39)	E88G	probably damaging	Het
Mical2	G	A	7: 111,973,861 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,979,587 (GRCm39)	V18E	probably benign	Het
Mrgpra3	A	T	7: 47,239,355 (GRCm39)	C190*	probably null	Het
Nog	C	T	11: 89,192,291 (GRCm39)	V186M	probably damaging	Het
Nrxn2	T	C	19: 6,581,369 (GRCm39)	F392L	probably benign	Het
Or11h7	T	C	14: 50,891,525 (GRCm39)	I277T	possibly damaging	Het
Or12j3	T	A	7: 139,953,568 (GRCm39)		probably null	Het
Or4a79	T	A	2: 89,552,372 (GRCm39)	M28L	probably benign	Het
Or7c74	T	C	2: 37,161,025 (GRCm39)		noncoding transcript	Het
Phyhd1	T	A	2: 30,169,983 (GRCm39)	D158E	probably damaging	Het
Pik3r4	G	T	9: 105,546,974 (GRCm39)	K917N	probably benign	Het
Pnma1	A	G	12: 84,194,124 (GRCm39)	V193A	possibly damaging	Het
Podxl2	T	C	6: 88,826,805 (GRCm39)	E167G	probably damaging	Het
Prss50	A	T	9: 110,691,517 (GRCm39)	K82*	probably null	Het
Qsox1	A	G	1: 155,655,625 (GRCm39)	S513P	probably benign	Het
Rheb	A	G	5: 25,012,785 (GRCm39)	V98A	probably benign	Het
Rhoj	A	G	12: 75,438,606 (GRCm39)	I131V	probably benign	Het
Rsph4a	A	T	10: 33,781,684 (GRCm39)	D178V	probably damaging	Het
Setd2	T	G	9: 110,385,343 (GRCm39)		probably null	Het
Siglecf	A	T	7: 43,005,744 (GRCm39)	K434*	probably null	Het
Slc14a1	T	C	18: 78,159,629 (GRCm39)	Y88C	probably benign	Het
Snx15	T	C	19: 6,172,140 (GRCm39)	E89G	probably damaging	Het
Son	C	T	16: 91,454,378 (GRCm39)	R1042C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Suz12	C	A	11: 79,916,134 (GRCm39)	Y457*	probably null	Het
Tet1	T	A	10: 62,675,847 (GRCm39)	N743I	probably damaging	Het
Tmc6	A	G	11: 117,660,259 (GRCm39)	F660L	possibly damaging	Het
Tnpo1	A	C	13: 98,996,445 (GRCm39)	I452S	possibly damaging	Het
Trav4-3	G	T	14: 53,836,844 (GRCm39)	G103V	probably damaging	Het
Ubap2	T	C	4: 41,195,809 (GRCm39)	K994E	probably damaging	Het
Vmn2r14	T	C	5: 109,363,724 (GRCm39)	T731A	possibly damaging	Het
Vmn2r52	T	A	7: 9,905,231 (GRCm39)	I203L	probably benign	Het
Zfp663	G	T	2: 165,200,355 (GRCm39)	S75*	probably null	Het
Zik1	G	T	7: 10,226,293 (GRCm39)	H25N	probably benign	Het

Other mutations in Or1e33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Or1e33	APN	11	73,738,036 (GRCm39)	missense	probably benign	0.00
IGL01845:Or1e33	APN	11	73,738,298 (GRCm39)	missense	probably damaging	1.00
IGL01969:Or1e33	APN	11	73,738,435 (GRCm39)	missense	possibly damaging	0.56
IGL02288:Or1e33	APN	11	73,738,207 (GRCm39)	missense	possibly damaging	0.88
IGL02726:Or1e33	APN	11	73,738,691 (GRCm39)	missense	probably benign	0.02
R0400:Or1e33	UTSW	11	73,738,867 (GRCm39)	missense	probably benign	0.15
R1672:Or1e33	UTSW	11	73,738,781 (GRCm39)	missense	probably benign	0.31
R1816:Or1e33	UTSW	11	73,738,025 (GRCm39)	missense	probably benign	0.00
R2294:Or1e33	UTSW	11	73,738,312 (GRCm39)	missense	probably damaging	1.00
R4506:Or1e33	UTSW	11	73,738,521 (GRCm39)	nonsense	probably null
R4587:Or1e33	UTSW	11	73,738,045 (GRCm39)	missense	probably benign	0.12
R4593:Or1e33	UTSW	11	73,738,140 (GRCm39)	missense	probably benign	0.22
R5216:Or1e33	UTSW	11	73,738,262 (GRCm39)	missense	probably damaging	0.97
R5657:Or1e33	UTSW	11	73,738,366 (GRCm39)	missense	probably damaging	1.00
R5912:Or1e33	UTSW	11	73,738,501 (GRCm39)	missense	possibly damaging	0.61
R6025:Or1e33	UTSW	11	73,738,745 (GRCm39)	missense	probably benign	0.23
R6630:Or1e33	UTSW	11	73,738,702 (GRCm39)	missense	probably benign
R6804:Or1e33	UTSW	11	73,738,240 (GRCm39)	missense	probably benign	0.00
R7363:Or1e33	UTSW	11	73,738,741 (GRCm39)	missense	probably damaging	1.00
R7860:Or1e33	UTSW	11	73,738,333 (GRCm39)	missense	probably benign	0.07
R8103:Or1e33	UTSW	11	73,738,735 (GRCm39)	missense	probably damaging	1.00
R8158:Or1e33	UTSW	11	73,738,697 (GRCm39)	missense	probably benign	0.01
R8835:Or1e33	UTSW	11	73,738,702 (GRCm39)	missense	probably benign
R8925:Or1e33	UTSW	11	73,738,406 (GRCm39)	missense	probably benign	0.03
R8927:Or1e33	UTSW	11	73,738,406 (GRCm39)	missense	probably benign	0.03
R8960:Or1e33	UTSW	11	73,738,167 (GRCm39)	nonsense	probably null
R9221:Or1e33	UTSW	11	73,738,108 (GRCm39)	missense	probably damaging	1.00
R9355:Or1e33	UTSW	11	73,738,643 (GRCm39)	missense	probably damaging	0.98
R9502:Or1e33	UTSW	11	73,738,825 (GRCm39)	missense	probably damaging	1.00
Z1177:Or1e33	UTSW	11	73,738,627 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- ATGGCATGTGATGTCGTCAG -3'
(R):5'- ACAAACACCTGTTCTATGCCCTG -3'

Sequencing Primer
(F):5'- GATGTCGTCAGTATCCACAGTAGC -3'
(R):5'- ATGCCCTGTTTCTGGCCATG -3'

Posted On

2016-11-21