Mutagenetix > Incidental Mutation

Incidental Mutation 'R1930:Or4c3'

215239

Institutional Source

Beutler Lab

Gene Symbol

Or4c3

Ensembl Gene

ENSMUSG00000075069

Gene Name

olfactory receptor family 4 subfamily C member 3

Synonyms

MOR236-1, GA_x6K02T2Q125-51454183-51453257, Olfr1264

MMRRC Submission

039948-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.334) question?

Stock #

R1930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89851482-89852408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89851505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 302 (R302C)

Ref Sequence

ENSEMBL: ENSMUSP00000149126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099758] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]

AlphaFold

Q9R0K2

Predicted Effect

probably benign
Transcript: ENSMUST00000099758
AA Change: R302C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097347
Gene: ENSMUSG00000075069
AA Change: R302C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.8e-47	PFAM
Pfam:7tm_1	39	285	2.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214382

Predicted Effect

probably benign
Transcript: ENSMUST00000216616
AA Change: R302C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216764

Predicted Effect

probably benign
Transcript: ENSMUST00000217065

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,540 (GRCm39)	D148E	probably damaging	Het
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
4933430I17Rik	A	T	4: 62,450,519 (GRCm39)	D31V	possibly damaging	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Ago2	A	T	15: 72,991,204 (GRCm39)	I578N	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Cep152	A	T	2: 125,460,291 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,683,563 (GRCm39)	L261P	possibly damaging	Het
Cntn3	C	T	6: 102,219,014 (GRCm39)	W535*	probably null	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Daam2	A	T	17: 49,769,241 (GRCm39)		probably null	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Glt8d2	G	T	10: 82,500,476 (GRCm39)	S91R	probably benign	Het
H2-Oa	A	T	17: 34,312,873 (GRCm39)	H50L	possibly damaging	Het
Hsd17b2	T	C	8: 118,485,643 (GRCm39)	Y369H	possibly damaging	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Ice1	A	T	13: 70,753,202 (GRCm39)	S961R	probably benign	Het
Ift20	G	A	11: 78,430,830 (GRCm39)	V58I	possibly damaging	Het
Ippk	T	A	13: 49,603,494 (GRCm39)	F367I	probably damaging	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Krtcap2	T	A	3: 89,154,383 (GRCm39)	N35K	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Magi3	A	T	3: 103,996,920 (GRCm39)	D208E	probably damaging	Het
Mc2r	T	A	18: 68,540,853 (GRCm39)	T147S	probably benign	Het
Mfsd4b1	C	A	10: 39,882,070 (GRCm39)	A72S	probably benign	Het
Msln	A	T	17: 25,970,896 (GRCm39)	N150K	probably damaging	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Pcnx2	C	A	8: 126,614,453 (GRCm39)	V333L	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pkhd1l1	A	G	15: 44,366,733 (GRCm39)	D737G	possibly damaging	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Scgb2b20	T	C	7: 33,065,621 (GRCm39)		probably null	Het
Sdr16c6	A	G	4: 4,058,809 (GRCm39)	V259A	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc51b	T	A	9: 65,322,478 (GRCm39)	E21V	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
Specc1l	A	G	10: 75,145,658 (GRCm39)	D1101G	probably damaging	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tdg	T	A	10: 82,477,378 (GRCm39)	L35Q	probably damaging	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Tspyl3	A	G	2: 153,066,717 (GRCm39)	F174L	probably damaging	Het
Ttn	C	T	2: 76,553,193 (GRCm39)	D31099N	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp60	T	A	7: 27,436,382 (GRCm39)	M1K	probably null	Het

Other mutations in Or4c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1635:Or4c3	UTSW	2	89,852,314 (GRCm39)	missense	possibly damaging	0.94
R1758:Or4c3	UTSW	2	89,851,673 (GRCm39)	missense	probably benign
R2159:Or4c3	UTSW	2	89,851,882 (GRCm39)	missense	probably damaging	0.97
R3977:Or4c3	UTSW	2	89,852,089 (GRCm39)	missense	probably damaging	1.00
R4028:Or4c3	UTSW	2	89,851,567 (GRCm39)	missense	probably damaging	1.00
R4884:Or4c3	UTSW	2	89,851,987 (GRCm39)	missense	probably benign	0.19
R5194:Or4c3	UTSW	2	89,851,870 (GRCm39)	missense	probably damaging	1.00
R5225:Or4c3	UTSW	2	89,851,528 (GRCm39)	missense	probably benign	0.00
R5399:Or4c3	UTSW	2	89,852,267 (GRCm39)	missense	probably benign	0.19
R5436:Or4c3	UTSW	2	89,852,009 (GRCm39)	missense	probably benign	0.25
R5753:Or4c3	UTSW	2	89,851,847 (GRCm39)	missense	possibly damaging	0.87
R6225:Or4c3	UTSW	2	89,851,573 (GRCm39)	splice site	probably null
R6391:Or4c3	UTSW	2	89,851,975 (GRCm39)	missense	probably benign	0.03
R6531:Or4c3	UTSW	2	89,851,801 (GRCm39)	missense	probably benign	0.03
R7293:Or4c3	UTSW	2	89,851,871 (GRCm39)	missense	probably damaging	1.00
R7880:Or4c3	UTSW	2	89,852,381 (GRCm39)	missense	probably damaging	1.00
R8014:Or4c3	UTSW	2	89,852,087 (GRCm39)	missense	possibly damaging	0.95
R8887:Or4c3	UTSW	2	89,852,269 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CGGCTAGTCTATAATAAAACAGTGC -3'
(R):5'- GGAAAGCTCTGTCTACCTGTGG -3'

Sequencing Primer
(F):5'- CAGTGCAACTTAAGTAAAAACACAG -3'
(R):5'- GGGCTCACTTCACTGTGGTTAC -3'

Posted On

2014-07-14