Mutagenetix > Incidental Mutation

Incidental Mutation 'R7363:Or1e33'

571490

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

045448-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R7363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73738011-73738949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73738741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 70 (D70G)

Ref Sequence

ENSEMBL: ENSMUSP00000150031 (fasta)

Gene Model

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

AlphaFold

Q8VGR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000102523
AA Change: D70G

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

SMART Domains

Protein: ENSMUSP00000099582
Gene: ENSMUSG00000094488
AA Change: D70G

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 damaging
Transcript: ENSMUST00000213365
AA Change: D70G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,782 (GRCm39)	N190I	probably damaging	Het
Ablim1	G	T	19: 57,204,173 (GRCm39)	L73I	probably benign	Het
Adamts4	A	T	1: 171,086,608 (GRCm39)	Q800L	probably benign	Het
Atm	A	T	9: 53,376,598 (GRCm39)	I2014N	probably damaging	Het
Atp2a1	A	G	7: 126,062,061 (GRCm39)	C12R	possibly damaging	Het
B3galnt1	A	T	3: 69,483,157 (GRCm39)	Y35N	probably damaging	Het
Bnc2	A	T	4: 84,210,308 (GRCm39)	M687K	probably benign	Het
Cacna2d4	A	G	6: 119,320,939 (GRCm39)	Y917C	probably damaging	Het
Cemip2	T	C	19: 21,833,575 (GRCm39)	F1338L	probably benign	Het
Ces2e	A	G	8: 105,659,632 (GRCm39)		probably null	Het
Cldn23	A	G	8: 36,292,659 (GRCm39)		probably null	Het
Cntn5	G	T	9: 10,172,021 (GRCm39)	S54R	probably benign	Het
Cyria	T	A	12: 12,390,665 (GRCm39)		probably null	Het
Dido1	G	T	2: 180,304,310 (GRCm39)	S1198*	probably null	Het
Dnah12	A	G	14: 26,445,766 (GRCm39)	M776V	probably benign	Het
Dnah14	A	G	1: 181,518,089 (GRCm39)		probably null	Het
Dnttip1	GGGCCGGC	GGGC	2: 164,599,605 (GRCm39)		probably null	Het
Dusp28	A	T	1: 92,834,861 (GRCm39)	T29S	probably benign	Het
Erich1	A	T	8: 14,083,688 (GRCm39)	S127R	probably benign	Het
Fam151a	T	A	4: 106,602,681 (GRCm39)	L200H	probably damaging	Het
Fbxw8	A	T	5: 118,263,057 (GRCm39)	H207Q	probably damaging	Het
Fgf22	A	G	10: 79,592,676 (GRCm39)	E116G	probably benign	Het
Gapvd1	C	A	2: 34,602,207 (GRCm39)	V647F	probably benign	Het
Garin4	A	T	1: 190,895,910 (GRCm39)	S244R	probably damaging	Het
Gja4	T	A	4: 127,206,487 (GRCm39)	Y92F	probably damaging	Het
Gtf3c2	G	A	5: 31,327,600 (GRCm39)	R288W	probably damaging	Het
Hira	G	T	16: 18,716,532 (GRCm39)	R99L	possibly damaging	Het
Ighv16-1	C	T	12: 114,032,721 (GRCm39)	G27D	probably damaging	Het
Igkv1-133	C	T	6: 67,702,395 (GRCm39)	P38S	probably benign	Het
Igkv4-59	T	C	6: 69,415,396 (GRCm39)	Y53C	probably damaging	Het
Il23a	T	C	10: 128,133,020 (GRCm39)	E113G	probably damaging	Het
Kcnip1	A	G	11: 33,584,589 (GRCm39)	V188A	probably benign	Het
L3mbtl3	T	C	10: 26,216,850 (GRCm39)	K155E	unknown	Het
Lancl2	T	G	6: 57,699,664 (GRCm39)	C169G	probably benign	Het
Lrrc26	A	G	2: 25,180,581 (GRCm39)	D194G	probably benign	Het
Lrrfip1	C	T	1: 91,050,842 (GRCm39)	A545V	probably benign	Het
Lrtm1	T	C	14: 28,743,850 (GRCm39)	F106S	probably damaging	Het
Lypd2	A	T	15: 74,604,848 (GRCm39)	M49K	probably damaging	Het
Mbd1	A	C	18: 74,406,357 (GRCm39)	D63A	probably damaging	Het
Mdn1	T	C	4: 32,691,729 (GRCm39)	F990L	probably damaging	Het
Mtfr1l	T	C	4: 134,256,577 (GRCm39)	E196G	probably benign	Het
Myh10	A	G	11: 68,705,874 (GRCm39)	T2007A	probably benign	Het
Nckap1	G	A	2: 80,370,512 (GRCm39)	R393C	probably damaging	Het
Nup205	C	T	6: 35,209,508 (GRCm39)	T1605M	probably benign	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Pgap2	T	A	7: 101,875,467 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,619,387 (GRCm39)	S741G	probably benign	Het
Plcd4	A	T	1: 74,590,231 (GRCm39)	S155C	probably null	Het
Poc5	A	T	13: 96,540,925 (GRCm39)	T365S	possibly damaging	Het
Ppp2r5c	G	A	12: 110,489,041 (GRCm39)	A71T	probably benign	Het
Prdm6	T	A	18: 53,598,199 (GRCm39)	I187N	possibly damaging	Het
Pxk	A	G	14: 8,152,118 (GRCm38)	Q478R	probably benign	Het
Rgl1	T	C	1: 152,394,914 (GRCm39)	Y718C	probably damaging	Het
Ring1	G	T	17: 34,243,336 (GRCm39)	T2K	possibly damaging	Het
Sdk1	A	G	5: 142,173,897 (GRCm39)	S2022G	probably benign	Het
Sec61a1	C	A	6: 88,492,533 (GRCm39)	V32F	probably benign	Het
Sv2b	G	A	7: 74,797,402 (GRCm39)	P331S	probably damaging	Het
Syne1	T	C	10: 5,090,970 (GRCm39)	S795G	possibly damaging	Het
Tmod2	T	C	9: 75,484,023 (GRCm39)	E309G	probably damaging	Het
Tpp2	T	G	1: 44,024,582 (GRCm39)	S987A	probably benign	Het
Trim75	G	C	8: 65,435,539 (GRCm39)	H304D	probably damaging	Het
Trp53bp2	G	T	1: 182,272,231 (GRCm39)	D447Y	probably damaging	Het
Ube3a	A	G	7: 58,936,751 (GRCm39)	K697E	probably benign	Het
Vmn2r13	T	A	5: 109,339,909 (GRCm39)	H22L	probably benign	Het
Vmn2r4	G	A	3: 64,314,432 (GRCm39)	S183F	probably damaging	Het
Vwa8	T	C	14: 79,256,147 (GRCm39)	Y721H	probably benign	Het
Wbp1l	C	T	19: 46,642,569 (GRCm39)	P190L	possibly damaging	Het
Zcchc4	A	T	5: 52,942,510 (GRCm39)	Q105L	possibly damaging	Het
Zfp236	T	C	18: 82,639,456 (GRCm39)	R1264G	probably damaging	Het
Zfpm2	T	A	15: 40,616,413 (GRCm39)	N54K	probably damaging	Het
Zkscan3	C	T	13: 21,571,992 (GRCm39)	G547S	probably damaging	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
R5763:Or1e33	UTSW	11	73,738,693 (GRCm39)	missense	probably benign	0.01
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
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'- GCATTAGACAAGTACAGAGCTTGG -3'
(R):5'- AGTTTCTCCTCCTGGGACTG -3'

Sequencing Primer
(F):5'- CTCATGATGCTGGTGTAATGCAGAG -3'
(R):5'- GGACTGCCCATTTCCCTAGAG -3'

Posted On

2019-09-13