Mutagenetix > Incidental Mutation

Incidental Mutation 'R9355:Or1e33'

708365

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

Accession Numbers

Essential gene?

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

Stock #

R9355 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73738011-73738949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73738643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 103 (F103L)

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: F103L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099582
Gene: ENSMUSG00000094488
AA Change: F103L

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: F103L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,681,817 (GRCm39)	V747A	probably benign	Het
Arfgef1	G	A	1: 10,270,000 (GRCm39)	P383L	probably benign	Het
Arhgef4	A	G	1: 34,849,630 (GRCm39)	E407G	probably benign	Het
Astn1	C	T	1: 158,511,721 (GRCm39)	L1188F	probably damaging	Het
Atg2b	G	A	12: 105,636,980 (GRCm39)	P179S	possibly damaging	Het
Bcl9l	G	A	9: 44,419,000 (GRCm39)	R983H	probably benign	Het
Bmp2k	T	A	5: 97,211,366 (GRCm39)	Y511*	probably null	Het
C1galt1	G	T	6: 7,866,474 (GRCm39)	V107F	probably damaging	Het
Car3	T	A	3: 14,928,664 (GRCm39)	N11K		Het
Ccdc170	A	G	10: 4,508,695 (GRCm39)	R640G	probably benign	Het
Cep126	A	G	9: 8,100,038 (GRCm39)	V832A	possibly damaging	Het
Ces1h	C	T	8: 94,101,149 (GRCm39)	V49I		Het
Clasp2	T	A	9: 113,664,309 (GRCm39)	V310D	probably damaging	Het
Comp	C	T	8: 70,828,699 (GRCm39)	T177M	probably benign	Het
Coro1c	T	C	5: 114,003,726 (GRCm39)	S98G	probably damaging	Het
Cpa6	C	T	1: 10,479,520 (GRCm39)	V238I	probably benign	Het
Crebrf	T	C	17: 26,962,094 (GRCm39)	F397S	probably damaging	Het
Dcpp1	C	A	17: 24,099,987 (GRCm39)	Q3K	possibly damaging	Het
Dzip1l	A	G	9: 99,543,144 (GRCm39)	D533G	possibly damaging	Het
Ecpas	A	T	4: 58,844,114 (GRCm39)	S551T	probably benign	Het
Epha5	T	C	5: 84,253,890 (GRCm39)	E524G	probably damaging	Het
Epha7	A	G	4: 28,935,806 (GRCm39)	Y476C	probably damaging	Het
Erich5	G	T	15: 34,471,001 (GRCm39)	V77F	probably damaging	Het
Fat4	A	G	3: 39,036,047 (GRCm39)	Y3233C	probably damaging	Het
Ggt1	T	A	10: 75,421,716 (GRCm39)	V521E	probably benign	Het
Gm5431	A	G	11: 48,785,275 (GRCm39)	Y89H	probably damaging	Het
Gm5624	A	T	14: 44,799,272 (GRCm39)	L95*	probably null	Het
Gphn	A	G	12: 78,538,968 (GRCm39)	T205A	probably damaging	Het
Grik5	C	A	7: 24,767,597 (GRCm39)	A28S	possibly damaging	Het
H2-K2	A	G	17: 34,216,120 (GRCm39)	S300P	probably benign	Het
H2-Oa	T	C	17: 34,313,723 (GRCm39)	L227P	possibly damaging	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Hmcn2	A	T	2: 31,328,302 (GRCm39)	M4328L	probably benign	Het
Htt	A	T	5: 35,053,247 (GRCm39)	M2527L	probably benign	Het
Impdh2	A	T	9: 108,442,402 (GRCm39)	H466L	probably benign	Het
Itgae	G	A	11: 73,006,906 (GRCm39)	G384D	probably damaging	Het
Krt90	T	C	15: 101,461,714 (GRCm39)	S496G	unknown	Het
Krtap5-5	A	G	7: 141,783,114 (GRCm39)	S179P	unknown	Het
Lif	C	T	11: 4,219,044 (GRCm39)	R63W	probably damaging	Het
Lrrc10	T	C	10: 116,881,881 (GRCm39)	V185A	probably damaging	Het
Lrrc27	A	C	7: 138,822,648 (GRCm39)	Q513P	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Map2k3	T	C	11: 60,823,055 (GRCm39)	S3P	possibly damaging	Het
Mc2r	T	C	18: 68,541,195 (GRCm39)	T33A	probably benign	Het
Mefv	T	A	16: 3,525,882 (GRCm39)	D795V	probably damaging	Het
Megf6	A	T	4: 154,338,282 (GRCm39)	R451W	probably damaging	Het
Mrpl21	G	A	19: 3,336,937 (GRCm39)	V103M	probably damaging	Het
Mtmr14	GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC	GCCGCCGCCTC	6: 113,214,948 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,384,888 (GRCm39)	S760P	probably damaging	Het
Ndst4	A	G	3: 125,403,246 (GRCm39)	Y451C	probably damaging	Het
Nkain4	T	C	2: 180,577,775 (GRCm39)	N193S	possibly damaging	Het
Opa1	T	A	16: 29,432,807 (GRCm39)	L490H	probably damaging	Het
Opcml	A	C	9: 28,814,650 (GRCm39)	I301L	probably benign	Het
Or10ak16	G	A	4: 118,750,784 (GRCm39)	S168N	probably benign	Het
Or4p23	A	T	2: 88,576,749 (GRCm39)	I161N	probably damaging	Het
Or52s19	T	C	7: 103,008,125 (GRCm39)	H92R	probably benign	Het
Pabpc1l	T	C	2: 163,884,469 (GRCm39)	L402P	probably benign	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Peak1	G	T	9: 56,167,454 (GRCm39)	A158E	probably damaging	Het
Ppfibp2	C	T	7: 107,322,169 (GRCm39)	P406L	probably benign	Het
Qpctl	T	C	7: 18,875,146 (GRCm39)	H362R	probably damaging	Het
Ripor2	A	G	13: 24,885,694 (GRCm39)	H643R	probably benign	Het
Scn11a	A	T	9: 119,584,160 (GRCm39)	L1485Q	probably damaging	Het
Scn2a	A	T	2: 65,594,433 (GRCm39)	I1761F	probably damaging	Het
Scrn3	A	G	2: 73,166,077 (GRCm39)	D370G	probably benign	Het
Sec24b	A	T	3: 129,787,489 (GRCm39)	F877Y	possibly damaging	Het
Slc35f3	T	C	8: 127,108,967 (GRCm39)	I172T	probably damaging	Het
Smc3	T	C	19: 53,622,544 (GRCm39)		probably null	Het
Smpd3	C	T	8: 106,991,825 (GRCm39)	V243M	probably damaging	Het
Sos1	T	A	17: 80,722,479 (GRCm39)	I856F	possibly damaging	Het
Sp2	A	T	11: 96,852,231 (GRCm39)	L231H	possibly damaging	Het
Syne1	T	C	10: 5,318,255 (GRCm39)	Y457C	probably damaging	Het
Tdpoz6	T	C	3: 93,600,307 (GRCm39)	T21A	possibly damaging	Het
Tekt5	T	C	16: 10,213,268 (GRCm39)	T6A	possibly damaging	Het
Tln2	G	T	9: 67,262,529 (GRCm39)	T574K	possibly damaging	Het
Tmem161a	T	C	8: 70,633,821 (GRCm39)	S313P	probably damaging	Het
Trmt12	G	A	15: 58,744,824 (GRCm39)	C74Y	probably damaging	Het
Trpc6	A	G	9: 8,649,473 (GRCm39)	D561G	probably benign	Het
Ttn	A	G	2: 76,700,769 (GRCm39)	V62A		Het
Tubgcp5	T	C	7: 55,467,177 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,098,375 (GRCm39)	V1137M	possibly damaging	Het
Zfp729a	A	G	13: 67,767,515 (GRCm39)	C905R	probably damaging	Het
Zfp735	A	G	11: 73,602,362 (GRCm39)	I435M	probably benign	Het
Zswim4	C	A	8: 84,955,687 (GRCm39)	G271W	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
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
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'- CATCATGGCATGTGATGTCG -3'
(R):5'- TACAAACACCTGTTCTATGCCC -3'

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

Posted On

2022-04-18