Mutagenetix > Incidental Mutation

Incidental Mutation 'R0839:Or4q3'

78128

Institutional Source

Beutler Lab

Gene Symbol

Or4q3

Ensembl Gene

ENSMUSG00000046210

Gene Name

olfactory receptor family 4 subfamily Q member 3

Synonyms

Olfr735, GA_x6K02T2PMLR-6042130-6041183, MOR243-1

MMRRC Submission

039018-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R0839 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50582833-50583897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50583545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 118 (V118A)

Ref Sequence

ENSEMBL: ENSMUSP00000056851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049729] [ENSMUST00000216634]

AlphaFold

Q7TRM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049729
AA Change: V118A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056851
Gene: ENSMUSG00000046210
AA Change: V118A

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
Pfam:7tm_4	70	345	1.6e-49	PFAM
Pfam:7tm_1	80	345	1.8e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206546

Predicted Effect

probably damaging
Transcript: ENSMUST00000216634
AA Change: V87A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,920,527 (GRCm39)	V1083M	probably damaging	Het
Aco2	A	G	15: 81,791,736 (GRCm39)		probably null	Het
AI661453	A	T	17: 47,747,752 (GRCm39)	Q8L	probably null	Het
Ankrd42	T	C	7: 92,261,980 (GRCm39)	D295G	possibly damaging	Het
Ccdc73	A	T	2: 104,821,442 (GRCm39)	I464L	probably benign	Het
Cdc5l	A	C	17: 45,704,073 (GRCm39)	M717R	probably benign	Het
Col4a1	G	A	8: 11,271,015 (GRCm39)	P809S	probably damaging	Het
Dctn1	T	C	6: 83,167,459 (GRCm39)	M358T	possibly damaging	Het
Dgkz	A	G	2: 91,765,456 (GRCm39)	S799P	probably benign	Het
Dna2	T	C	10: 62,805,561 (GRCm39)	C933R	probably damaging	Het
Dock6	T	C	9: 21,729,188 (GRCm39)	N1275S	probably benign	Het
Ect2l	A	G	10: 18,017,652 (GRCm39)	I659T	probably benign	Het
Ets1	T	A	9: 32,645,357 (GRCm39)	Y201*	probably null	Het
Gle1	T	A	2: 29,848,462 (GRCm39)	C679S	probably benign	Het
Gm10118	T	G	10: 63,762,643 (GRCm39)		probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
H2-Q7	A	G	17: 35,658,688 (GRCm39)	S109G	probably damaging	Het
Igfn1	A	G	1: 135,882,418 (GRCm39)	V2809A	probably damaging	Het
Izumo1	T	A	7: 45,276,536 (GRCm39)	D366E	probably benign	Het
Kctd20	A	T	17: 29,176,872 (GRCm39)	M1L	possibly damaging	Het
Lct	C	T	1: 128,214,346 (GRCm39)	A1809T	probably benign	Het
Manea	T	C	4: 26,327,983 (GRCm39)	I353V	probably damaging	Het
Mybl2	T	C	2: 162,917,688 (GRCm39)	Y65H	probably benign	Het
Myh11	C	T	16: 14,021,042 (GRCm39)	E1744K	probably damaging	Het
Neb	T	C	2: 52,167,560 (GRCm39)	D1922G	probably damaging	Het
Nepro	C	A	16: 44,556,382 (GRCm39)	D513E	probably benign	Het
Nnt	A	T	13: 119,531,192 (GRCm39)	I185K	possibly damaging	Het
Npat	A	T	9: 53,456,480 (GRCm39)	Q17L	probably damaging	Het
Nup155	A	G	15: 8,175,071 (GRCm39)	E956G	possibly damaging	Het
Or1e35	T	A	11: 73,798,138 (GRCm39)	Y60F	probably damaging	Het
Or1x6	A	G	11: 50,939,254 (GRCm39)	I107V	probably benign	Het
Or2a14	T	A	6: 43,130,558 (GRCm39)	F106L	probably benign	Het
Or8g18	A	T	9: 39,149,146 (GRCm39)	N191K	possibly damaging	Het
Or8g4	A	T	9: 39,661,687 (GRCm39)	I2L	probably benign	Het
Or9e1	G	A	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Pah	T	C	10: 87,357,924 (GRCm39)	S16P	probably damaging	Het
Pcdh15	C	A	10: 74,462,614 (GRCm39)	P1365Q	probably null	Het
Pds5b	G	T	5: 150,688,427 (GRCm39)	V640F	probably benign	Het
Pgam5	A	T	5: 110,414,996 (GRCm39)	H72Q	probably benign	Het
Plagl2	C	A	2: 153,074,461 (GRCm39)	A147S	probably damaging	Het
Ppfia4	A	T	1: 134,256,545 (GRCm39)	L113Q	probably null	Het
Ppp1r12a	T	C	10: 108,034,722 (GRCm39)	V89A	probably damaging	Het
Ptprc	A	G	1: 138,028,870 (GRCm39)	Y443H	possibly damaging	Het
Ralgapb	T	C	2: 158,315,203 (GRCm39)		probably null	Het
Rgsl1	A	G	1: 153,677,980 (GRCm39)		probably null	Het
Rubcn	A	C	16: 32,647,713 (GRCm39)	I681M	probably damaging	Het
Scaf11	A	G	15: 96,321,434 (GRCm39)	L169S	probably damaging	Het
Scgb1b27	A	G	7: 33,721,276 (GRCm39)	K55E	probably benign	Het
Sos1	A	T	17: 80,741,159 (GRCm39)	I542N	probably damaging	Het
Syf2	T	A	4: 134,663,374 (GRCm39)	V182D	probably damaging	Het
Tapbp	T	C	17: 34,144,717 (GRCm39)	V271A	probably benign	Het
Tmem33	T	A	5: 67,421,651 (GRCm39)	L60Q	probably damaging	Het
Tmf1	A	G	6: 97,153,284 (GRCm39)	V263A	probably damaging	Het
Vps13c	T	C	9: 67,806,020 (GRCm39)	V798A	probably benign	Het
Zfp384	C	A	6: 125,013,631 (GRCm39)	D550E	probably benign	Het

Other mutations in Or4q3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Or4q3	APN	14	50,583,071 (GRCm39)	missense	probably damaging	0.99
IGL01655:Or4q3	APN	14	50,583,641 (GRCm39)	missense	probably benign	0.01
IGL02838:Or4q3	APN	14	50,583,312 (GRCm39)	missense	probably damaging	1.00
IGL02874:Or4q3	APN	14	50,583,583 (GRCm39)	missense	probably damaging	1.00
R0609:Or4q3	UTSW	14	50,583,383 (GRCm39)	missense	probably damaging	1.00
R0724:Or4q3	UTSW	14	50,583,374 (GRCm39)	missense	possibly damaging	0.89
R1766:Or4q3	UTSW	14	50,583,677 (GRCm39)	missense	probably damaging	1.00
R1799:Or4q3	UTSW	14	50,583,537 (GRCm39)	missense	probably benign	0.32
R4934:Or4q3	UTSW	14	50,583,345 (GRCm39)	missense	probably damaging	1.00
R5753:Or4q3	UTSW	14	50,583,045 (GRCm39)	missense	probably damaging	0.96
R5996:Or4q3	UTSW	14	50,582,969 (GRCm39)	missense	possibly damaging	0.89
R6555:Or4q3	UTSW	14	50,583,303 (GRCm39)	nonsense	probably null
R6736:Or4q3	UTSW	14	50,582,905 (GRCm39)	missense	probably damaging	1.00
R7841:Or4q3	UTSW	14	50,583,285 (GRCm39)	missense	probably benign	0.09
R7922:Or4q3	UTSW	14	50,583,872 (GRCm39)	missense	probably benign	0.03
R8190:Or4q3	UTSW	14	50,583,179 (GRCm39)	missense	probably damaging	0.99
R8308:Or4q3	UTSW	14	50,582,922 (GRCm39)	missense	probably benign	0.06
R8560:Or4q3	UTSW	14	50,583,794 (GRCm39)	missense	probably benign	0.12
X0019:Or4q3	UTSW	14	50,583,263 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCATGACCGTCAGGTAGTGCAAAG -3'
(R):5'- TGCATGGTACACGCAGACAAGC -3'

Sequencing Primer
(F):5'- GGGTTGCATATGGCAACATACC -3'
(R):5'- GATACTCTTGGCTTGGAGAAAAAC -3'

Posted On

2013-10-16