Mutagenetix > Incidental Mutation

Incidental Mutation 'R5588:Or4a68'

438868

Institutional Source

Beutler Lab

Gene Symbol

Or4a68

Ensembl Gene

ENSMUSG00000111174

Gene Name

olfactory receptor family 4 subfamily A member 68

Synonyms

Olfr1240, MOR231-8, GA_x6K02T2Q125-50883183-50882239

MMRRC Submission

043268-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5588 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89269614-89270687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89269760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 288 (R288G)

Ref Sequence

ENSEMBL: ENSMUSP00000150256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000215362] [ENSMUST00000216123]

AlphaFold

Q8VG73

Predicted Effect

probably damaging
Transcript: ENSMUST00000187363
AA Change: R288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139968
Gene: ENSMUSG00000099909
AA Change: R288G

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	2e-28	PFAM
Pfam:7tm_4	137	278	1.2e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215362
AA Change: R288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216123
AA Change: R288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,949,417 (GRCm39)	Q1105K	possibly damaging	Het
Afg3l2	A	T	18: 67,573,277 (GRCm39)	V175D	possibly damaging	Het
Aldh1a2	G	A	9: 71,190,732 (GRCm39)	R325H	probably damaging	Het
Arhgef18	T	A	8: 3,438,878 (GRCm39)		probably benign	Het
Atp8a1	A	G	5: 67,972,027 (GRCm39)	L43P	probably damaging	Het
Bdh1	T	C	16: 31,256,937 (GRCm39)		probably null	Het
Ccdc85c	T	C	12: 108,177,793 (GRCm39)	Y320C	probably damaging	Het
Cobl	A	T	11: 12,293,886 (GRCm39)	L290*	probably null	Het
Cyp2c66	A	G	19: 39,151,858 (GRCm39)	D191G	possibly damaging	Het
Dhx34	T	C	7: 15,932,825 (GRCm39)	H1038R	probably damaging	Het
Eea1	T	C	10: 95,859,772 (GRCm39)	V686A	probably benign	Het
Eif2b4	A	T	5: 31,349,517 (GRCm39)	C101*	probably null	Het
Eif4a3	A	C	11: 119,186,952 (GRCm39)	S84A	probably benign	Het
Elfn2	T	C	15: 78,558,076 (GRCm39)	D157G	probably damaging	Het
Fat2	T	A	11: 55,173,103 (GRCm39)	I2537F	probably damaging	Het
Fbxo38	A	G	18: 62,659,248 (GRCm39)	F350L	probably damaging	Het
Fgd3	A	T	13: 49,440,786 (GRCm39)	L215Q	probably damaging	Het
Fhdc1	A	G	3: 84,372,783 (GRCm39)	V73A	possibly damaging	Het
Gapvd1	T	A	2: 34,599,166 (GRCm39)	T690S	probably damaging	Het
Gask1a	C	T	9: 121,794,247 (GRCm39)	Q134*	probably null	Het
Gm14418	A	T	2: 177,079,065 (GRCm39)	I310K	probably benign	Het
Gm5141	A	T	13: 62,921,584 (GRCm39)	N528K	probably benign	Het
Gsap	A	C	5: 21,456,147 (GRCm39)	E417A	probably damaging	Het
Kcnab1	A	C	3: 65,283,976 (GRCm39)	D398A	possibly damaging	Het
Kif5b	T	G	18: 6,225,787 (GRCm39)	N160T	probably benign	Het
Lilrb4b	G	A	10: 51,357,422 (GRCm39)	R86Q	probably benign	Het
Lmo7	T	C	14: 102,134,026 (GRCm39)		probably null	Het
Mlph	T	C	1: 90,859,321 (GRCm39)	S219P	possibly damaging	Het
Ncapg2	T	C	12: 116,376,697 (GRCm39)	I95T	possibly damaging	Het
Nedd9	A	T	13: 41,469,437 (GRCm39)	I572N	possibly damaging	Het
Nup155	G	A	15: 8,148,737 (GRCm39)		probably null	Het
Olfml2a	T	C	2: 38,850,047 (GRCm39)	S588P	probably damaging	Het
Or4c12	T	A	2: 89,774,136 (GRCm39)	T108S	probably benign	Het
Or6c1	T	G	10: 129,517,705 (GRCm39)	N301T	possibly damaging	Het
Parva	C	A	7: 112,159,269 (GRCm39)	N142K	possibly damaging	Het
Pclo	T	A	5: 14,838,412 (GRCm39)	S4678R	unknown	Het
Pcnt	T	C	10: 76,278,445 (GRCm39)	D3G	possibly damaging	Het
Pdzd2	A	C	15: 12,374,367 (GRCm39)	S1923A	possibly damaging	Het
Per1	G	A	11: 68,998,453 (GRCm39)	G1055D	probably damaging	Het
Phf8-ps	G	A	17: 33,285,249 (GRCm39)	Q518*	probably null	Het
Plb1	G	A	5: 32,487,293 (GRCm39)		probably null	Het
Ppp1r14a	C	T	7: 28,992,709 (GRCm39)	P137L	probably damaging	Het
Rfx2	A	T	17: 57,086,890 (GRCm39)	S612T	possibly damaging	Het
Rtel1	T	C	2: 180,993,893 (GRCm39)	F642L	probably benign	Het
Sec14l3	T	C	11: 4,016,138 (GRCm39)	F19S	probably damaging	Het
Skint8	A	T	4: 111,794,089 (GRCm39)	M160L	probably benign	Het
Slc19a3	G	T	1: 83,000,776 (GRCm39)	Y80*	probably null	Het
Slc37a1	T	A	17: 31,565,431 (GRCm39)	W489R	probably damaging	Het
Smc4	A	G	3: 68,933,190 (GRCm39)	I604V	probably benign	Het
Srprb	G	T	9: 103,076,048 (GRCm39)	Y796*	probably null	Het
Tdrd7	T	A	4: 45,992,225 (GRCm39)	S220T	probably benign	Het
Tex15	T	C	8: 34,067,215 (GRCm39)	F2215S	probably damaging	Het
Ticrr	C	T	7: 79,328,853 (GRCm39)	A664V	probably damaging	Het
Tnc	T	G	4: 63,924,659 (GRCm39)	D1013A	possibly damaging	Het
Tpte	T	A	8: 22,774,983 (GRCm39)	Y18N	possibly damaging	Het
Ubqlnl	T	A	7: 103,798,339 (GRCm39)	Q386L	probably damaging	Het
Vmn1r194	T	C	13: 22,428,512 (GRCm39)	V43A	possibly damaging	Het
Vmn2r130	A	T	17: 23,282,803 (GRCm39)	Q161L	probably benign	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zfhx4	T	G	3: 5,468,198 (GRCm39)	D2785E	probably damaging	Het

Other mutations in Or4a68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01765:Or4a68	APN	2	89,270,144 (GRCm39)	missense	probably benign	0.00
IGL01767:Or4a68	APN	2	89,270,144 (GRCm39)	missense	probably benign	0.00
R0375:Or4a68	UTSW	2	89,269,740 (GRCm39)	missense	probably benign	0.00
R0417:Or4a68	UTSW	2	89,270,519 (GRCm39)	missense	possibly damaging	0.88
R0501:Or4a68	UTSW	2	89,270,060 (GRCm39)	missense	probably benign	0.09
R0586:Or4a68	UTSW	2	89,269,698 (GRCm39)	missense	possibly damaging	0.55
R0624:Or4a68	UTSW	2	89,270,482 (GRCm39)	missense	possibly damaging	0.94
R1168:Or4a68	UTSW	2	89,270,213 (GRCm39)	nonsense	probably null
R1728:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R1729:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R1730:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R1739:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R1762:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R1783:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R1785:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R2038:Or4a68	UTSW	2	89,269,689 (GRCm39)	missense	probably benign	0.00
R2049:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R2069:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R2140:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R2142:Or4a68	UTSW	2	89,269,927 (GRCm39)	missense	probably benign	0.00
R2215:Or4a68	UTSW	2	89,270,381 (GRCm39)	missense	probably benign	0.00
R3714:Or4a68	UTSW	2	89,269,727 (GRCm39)	missense	probably damaging	1.00
R4304:Or4a68	UTSW	2	89,270,542 (GRCm39)	missense	probably damaging	0.96
R4437:Or4a68	UTSW	2	89,269,698 (GRCm39)	missense	possibly damaging	0.55
R4825:Or4a68	UTSW	2	89,270,209 (GRCm39)	missense	probably benign	0.01
R4857:Or4a68	UTSW	2	89,269,967 (GRCm39)	missense	probably damaging	1.00
R4865:Or4a68	UTSW	2	89,270,003 (GRCm39)	missense	possibly damaging	0.88
R5730:Or4a68	UTSW	2	89,269,780 (GRCm39)	missense	probably damaging	1.00
R7206:Or4a68	UTSW	2	89,270,801 (GRCm39)	start gained	probably benign
R7365:Or4a68	UTSW	2	89,270,542 (GRCm39)	missense	probably benign	0.01
R7574:Or4a68	UTSW	2	89,269,745 (GRCm39)	missense	possibly damaging	0.94
R8007:Or4a68	UTSW	2	89,270,684 (GRCm39)
R8268:Or4a68	UTSW	2	89,269,780 (GRCm39)	missense	probably damaging	1.00
R8559:Or4a68	UTSW	2	89,270,528 (GRCm39)	missense	probably benign	0.03
R8812:Or4a68	UTSW	2	89,270,209 (GRCm39)	missense	probably benign	0.01
R9269:Or4a68	UTSW	2	89,270,276 (GRCm39)	missense	probably damaging	0.99
R9534:Or4a68	UTSW	2	89,269,999 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGAATCCCCAAACTGAGCAG -3'
(R):5'- TCTTAAGTCTCATAGTGAGGAAGGG -3'

Sequencing Primer
(F):5'- AAATTGATTCTCCTTTTCAGTGGC -3'
(R):5'- CTCATAGTGAGGAAGGGAGGCG -3'

Posted On

2016-10-26