Mutagenetix > Incidental Mutation

Incidental Mutation 'R1816:Or1e33'

204439

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

039844-MU

Accession Numbers

Essential gene?

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

Stock #

R1816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73738011-73738949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73738025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 309 (K309E)

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: K309E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099582
Gene: ENSMUSG00000094488
AA Change: K309E

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: K309E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.1134

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.9%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,644,222 (GRCm39)	Y721*	probably null	Het
4933405L10Rik	T	A	8: 106,436,491 (GRCm39)	V220E	possibly damaging	Het
4933434E20Rik	T	C	3: 89,960,398 (GRCm39)	V13A	possibly damaging	Het
Adam1b	T	G	5: 121,639,788 (GRCm39)	Q419P	probably damaging	Het
Ankib1	A	G	5: 3,784,028 (GRCm39)	V316A	probably benign	Het
Anks1	T	A	17: 28,205,547 (GRCm39)	D294E	probably damaging	Het
Atr	T	C	9: 95,748,747 (GRCm39)	S431P	probably benign	Het
Bfsp1	C	T	2: 143,683,599 (GRCm39)	A242T	probably benign	Het
Bptf	A	T	11: 106,951,405 (GRCm39)	V279E	probably damaging	Het
Camkk2	A	G	5: 122,872,243 (GRCm39)	L540P	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam12	T	A	7: 17,805,690 (GRCm39)		probably null	Het
Cntnap5a	G	T	1: 116,356,618 (GRCm39)	A823S	probably benign	Het
Cp	T	C	3: 20,022,384 (GRCm39)		probably benign	Het
Dhx58	A	G	11: 100,593,978 (GRCm39)	V163A	probably damaging	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Disp1	T	A	1: 182,880,139 (GRCm39)	D288V	probably damaging	Het
Dnah7a	A	G	1: 53,670,901 (GRCm39)		probably benign	Het
Eaf2	T	G	16: 36,628,371 (GRCm39)		probably benign	Het
Efna1	T	C	3: 89,183,694 (GRCm39)	N44S	possibly damaging	Het
Etnppl	T	C	3: 130,428,211 (GRCm39)	I462T	probably benign	Het
Fam83d	G	T	2: 158,610,070 (GRCm39)	A13S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Fstl1	A	G	16: 37,647,086 (GRCm39)		probably null	Het
Gm14226	A	T	2: 154,867,549 (GRCm39)	D502V	probably damaging	Het
Gm5117	T	A	8: 32,228,986 (GRCm39)		noncoding transcript	Het
Gm973	A	G	1: 59,621,558 (GRCm39)	N566S	probably damaging	Het
Grm7	A	T	6: 111,472,752 (GRCm39)	K16*	probably null	Het
Hbb-bh2	G	A	7: 103,489,585 (GRCm39)	T17I	possibly damaging	Het
Htt	C	T	5: 34,961,084 (GRCm39)	A237V	probably benign	Het
Itga6	T	C	2: 71,671,153 (GRCm39)	V665A	probably benign	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Mki67	T	C	7: 135,309,116 (GRCm39)	D445G	possibly damaging	Het
Myo10	T	C	15: 25,800,286 (GRCm39)	V1454A	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Odam	A	G	5: 88,037,329 (GRCm39)		probably null	Het
Or2ag13	A	T	7: 106,472,695 (GRCm39)	Y252*	probably null	Het
Or4p18	T	G	2: 88,232,943 (GRCm39)	I112L	possibly damaging	Het
Or5g29	G	T	2: 85,421,269 (GRCm39)	K128N	probably benign	Het
Or5p80	T	C	7: 108,229,364 (GRCm39)	L55P	probably damaging	Het
Or8k33	A	T	2: 86,384,011 (GRCm39)	C152*	probably null	Het
Pcm1	T	A	8: 41,762,574 (GRCm39)	S1412T	probably damaging	Het
Pgap1	A	G	1: 54,531,216 (GRCm39)	L753P	probably damaging	Het
Pi4k2b	T	C	5: 52,908,088 (GRCm39)	S153P	probably damaging	Het
Pik3c2b	C	T	1: 133,029,108 (GRCm39)	A1398V	probably benign	Het
Pkhd1l1	T	C	15: 44,391,635 (GRCm39)	I1567T	possibly damaging	Het
Rapgef6	G	A	11: 54,585,314 (GRCm39)	V1571I	probably benign	Het
Rfx2	C	A	17: 57,115,305 (GRCm39)	E5*	probably null	Het
Sh3tc1	C	A	5: 35,857,928 (GRCm39)		probably null	Het
Slc22a12	G	A	19: 6,592,683 (GRCm39)	Q20*	probably null	Het
Slc4a1	A	G	11: 102,242,056 (GRCm39)	C861R	probably damaging	Het
Snrnp25	G	A	11: 32,157,565 (GRCm39)	V48I	probably damaging	Het
Spata1	G	T	3: 146,186,962 (GRCm39)	P211Q	probably damaging	Het
Srgap1	G	A	10: 121,761,876 (GRCm39)	Q91*	probably null	Het
Stab1	T	C	14: 30,879,422 (GRCm39)	D686G	probably benign	Het
Stx8	T	A	11: 67,902,152 (GRCm39)	M112K	possibly damaging	Het
Tfap2b	A	T	1: 19,279,436 (GRCm39)	K15N	probably damaging	Het
Thbs2	C	A	17: 14,890,975 (GRCm39)	D1052Y	probably benign	Het
Thbs2	T	A	17: 14,890,976 (GRCm39)	E1051D	probably benign	Het
Thoc2l	A	G	5: 104,665,700 (GRCm39)	D74G	probably benign	Het
Tlr2	T	C	3: 83,745,516 (GRCm39)	Y189C	probably damaging	Het
Tmem268	C	A	4: 63,483,947 (GRCm39)	P55T	possibly damaging	Het
Tnpo3	T	C	6: 29,557,016 (GRCm39)	H745R	probably benign	Het
Trappc14	A	G	5: 138,258,603 (GRCm39)	V548A	possibly damaging	Het
Ube2s	T	C	7: 4,814,554 (GRCm39)	N2S	probably damaging	Het
Ulk1	A	G	5: 110,935,697 (GRCm39)	Y39H	probably damaging	Het
Vmn1r49	G	T	6: 90,049,785 (GRCm39)	D72E	possibly damaging	Het
Vmn2r27	C	A	6: 124,207,330 (GRCm39)	G104*	probably null	Het
Vmn2r92	A	G	17: 18,386,939 (GRCm39)	I93V	probably damaging	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zfp958	A	T	8: 4,679,147 (GRCm39)	I391F	possibly 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
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
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'- ATTCCCACATTGACTACTGCAC -3'
(R):5'- TACAAGGTATTCTCCACCTGTG -3'

Sequencing Primer
(F):5'- ACATTGACTACTGCACTAAACTTC -3'
(R):5'- GGTTCCCATCTGTCTGTGGTATC -3'

Posted On

2014-06-23