Mutagenetix > Incidental Mutation

Incidental Mutation 'R2213:Or4a78'

239494

Institutional Source

Beutler Lab

Gene Symbol

Or4a78

Ensembl Gene

ENSMUSG00000111567

Gene Name

olfactory receptor family 4 subfamily A member 78

Synonyms

Olfr1251, GA_x6K02T2Q125-51109312-51108356, MOR231-15P, MOR231-24_p

MMRRC Submission

040215-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R2213 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89497272-89498228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89497891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 113 (L113Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000214304] [ENSMUST00000214639] [ENSMUST00000214750]

AlphaFold

Q7TQZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099767
AA Change: L113Q

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

SMART Domains

Protein: ENSMUSP00000097355
Gene: ENSMUSG00000075077
AA Change: L113Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.1e-45	PFAM
Pfam:7tm_1	39	285	2.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188085
AA Change: L113Q

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

SMART Domains

Protein: ENSMUSP00000140591
Gene: ENSMUSG00000100323
AA Change: L113Q

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	1.4e-29	PFAM
Pfam:7tm_4	137	278	2e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214304
AA Change: L113Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214639
AA Change: L113Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214750
AA Change: L113Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,326,247 (GRCm39)	D78G	probably damaging	Het
Anxa1	C	T	19: 20,360,239 (GRCm39)	R124H	probably damaging	Het
Arhgef4	G	A	1: 34,846,230 (GRCm39)		probably null	Het
C87436	G	A	6: 86,422,455 (GRCm39)	V10I	probably benign	Het
Ces1a	G	T	8: 93,751,853 (GRCm39)	P427Q	probably damaging	Het
Cpm	T	C	10: 117,495,744 (GRCm39)	Y78H	probably damaging	Het
Csmd3	G	A	15: 47,683,843 (GRCm39)	T1663I	possibly damaging	Het
Cul7	T	C	17: 46,962,398 (GRCm39)	F10L	probably damaging	Het
Cyp2j5	T	C	4: 96,547,852 (GRCm39)	N130S	probably benign	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddb1	T	C	19: 10,585,691 (GRCm39)	L135P	probably damaging	Het
Dixdc1	A	G	9: 50,613,245 (GRCm39)	S211P	probably benign	Het
Dnah12	G	T	14: 26,460,485 (GRCm39)	K970N	probably benign	Het
Eps15	A	G	4: 109,218,417 (GRCm39)	K391E	probably damaging	Het
Fabp9	A	G	3: 10,259,860 (GRCm39)	V51A	probably damaging	Het
Flg	T	C	3: 93,200,335 (GRCm39)		probably benign	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscb	A	T	12: 64,520,890 (GRCm39)	I192N	possibly damaging	Het
Galntl5	A	G	5: 25,422,527 (GRCm39)	I333V	probably benign	Het
Gcnt3	A	T	9: 69,941,989 (GRCm39)	V193E	probably benign	Het
Gle1	T	C	2: 29,839,313 (GRCm39)	F535S	probably damaging	Het
Gpr87	A	T	3: 59,086,465 (GRCm39)	S347T	probably damaging	Het
Gstm2	C	T	3: 107,893,409 (GRCm39)	R18H	probably damaging	Het
H1f7	T	A	15: 98,154,219 (GRCm39)	Q310L	unknown	Het
Haus6	C	T	4: 86,500,229 (GRCm39)	E927K	possibly damaging	Het
Hunk	A	G	16: 90,229,505 (GRCm39)	N122S	probably damaging	Het
Itih4	T	A	14: 30,612,670 (GRCm39)	V232E	probably damaging	Het
Jag1	G	T	2: 136,931,812 (GRCm39)	D586E	probably benign	Het
Klk1b1	T	C	7: 43,619,905 (GRCm39)	S155P	probably damaging	Het
Lama1	G	T	17: 68,084,029 (GRCm39)	G1424*	probably null	Het
Lrp1	T	A	10: 127,376,571 (GRCm39)	N4279I	probably damaging	Het
Lrrc43	G	A	5: 123,641,640 (GRCm39)	V525I	possibly damaging	Het
Lrrc4c	G	A	2: 97,460,816 (GRCm39)	V481M	probably benign	Het
Mecr	T	A	4: 131,581,126 (GRCm39)		probably null	Het
Megf10	T	A	18: 57,421,081 (GRCm39)	Y906*	probably null	Het
Mpdz	A	G	4: 81,228,409 (GRCm39)	F1319L	probably damaging	Het
Mtf2	A	G	5: 108,248,780 (GRCm39)	E364G	possibly damaging	Het
Nelfe	T	A	17: 35,072,859 (GRCm39)	D160E	probably benign	Het
Nin	A	G	12: 70,092,128 (GRCm39)	L727P	probably damaging	Het
Npat	A	G	9: 53,463,681 (GRCm39)	T155A	probably benign	Het
Nup58	T	C	14: 60,476,945 (GRCm39)	D242G	probably benign	Het
Pnlip	T	C	19: 58,662,202 (GRCm39)	V116A	probably benign	Het
Prl7a2	T	A	13: 27,849,051 (GRCm39)	L79F	probably benign	Het
Rbm25	A	T	12: 83,722,856 (GRCm39)	I760L	probably benign	Het
Rbms3	A	T	9: 116,788,534 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps10	C	A	17: 27,849,473 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,863,159 (GRCm39)	E10G	possibly damaging	Het
Smad2	A	T	18: 76,437,697 (GRCm39)	T434S	probably damaging	Het
Sox30	C	T	11: 45,875,679 (GRCm39)	S477F	probably damaging	Het
Speer4a3	G	T	5: 26,158,175 (GRCm39)	T59K	probably benign	Het
Stat4	A	T	1: 52,053,014 (GRCm39)	D65V	probably damaging	Het
Strip2	A	G	6: 29,931,147 (GRCm39)	D366G	probably damaging	Het
Syngap1	C	A	17: 27,172,043 (GRCm39)	R84S	probably damaging	Het
Synpo2l	A	G	14: 20,710,734 (GRCm39)	Y629H	probably damaging	Het
Taf4	A	T	2: 179,577,683 (GRCm39)		probably null	Het
Ttc21a	A	G	9: 119,769,527 (GRCm39)	H68R	probably benign	Het
Txndc8	T	A	4: 57,984,199 (GRCm39)	Q144L	probably benign	Het
Tyr	T	G	7: 87,142,086 (GRCm39)	Q158P	probably damaging	Het
Uchl3	T	A	14: 101,904,106 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,332,123 (GRCm39)	K298R	probably benign	Het
Wrn	T	C	8: 33,747,043 (GRCm39)	N891S	probably benign	Het
Ylpm1	A	G	12: 85,116,492 (GRCm39)	S2125G	probably benign	Het

Other mutations in Or4a78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Or4a78	APN	2	89,497,348 (GRCm39)	missense	probably benign	0.00
IGL01941:Or4a78	APN	2	89,497,812 (GRCm39)	nonsense	probably null	0.00
IGL01988:Or4a78	APN	2	89,497,424 (GRCm39)	missense	probably benign	0.07
IGL02388:Or4a78	APN	2	89,497,316 (GRCm39)	missense	probably benign	0.00
IGL03169:Or4a78	APN	2	89,497,831 (GRCm39)	missense	possibly damaging	0.86
R0008:Or4a78	UTSW	2	89,497,428 (GRCm39)	missense	probably damaging	1.00
R0042:Or4a78	UTSW	2	89,497,798 (GRCm39)	missense	probably benign	0.01
R0834:Or4a78	UTSW	2	89,497,423 (GRCm39)	missense	probably benign	0.24
R1102:Or4a78	UTSW	2	89,497,814 (GRCm39)	missense	probably damaging	0.98
R2219:Or4a78	UTSW	2	89,498,211 (GRCm39)	missense	possibly damaging	0.73
R3023:Or4a78	UTSW	2	89,497,990 (GRCm39)	missense	possibly damaging	0.86
R3105:Or4a78	UTSW	2	89,497,302 (GRCm39)	missense	probably benign	0.01
R3433:Or4a78	UTSW	2	89,497,577 (GRCm39)	missense	probably benign	0.01
R3508:Or4a78	UTSW	2	89,497,816 (GRCm39)	missense	probably benign	0.14
R3758:Or4a78	UTSW	2	89,497,916 (GRCm39)	missense	probably benign	0.14
R3909:Or4a78	UTSW	2	89,497,357 (GRCm39)	missense	probably damaging	0.98
R4049:Or4a78	UTSW	2	89,498,006 (GRCm39)	missense	probably benign	0.03
R4457:Or4a78	UTSW	2	89,497,427 (GRCm39)	missense	probably benign	0.24
R5613:Or4a78	UTSW	2	89,497,388 (GRCm39)	missense	probably damaging	1.00
R5748:Or4a78	UTSW	2	89,498,146 (GRCm39)	missense	possibly damaging	0.67
R6226:Or4a78	UTSW	2	89,497,333 (GRCm39)	missense	probably damaging	1.00
R6950:Or4a78	UTSW	2	89,497,895 (GRCm39)	missense	probably benign	0.07
R9129:Or4a78	UTSW	2	89,497,930 (GRCm39)	missense	probably damaging	1.00
R9792:Or4a78	UTSW	2	89,497,811 (GRCm39)	missense	probably benign	0.00
R9793:Or4a78	UTSW	2	89,497,811 (GRCm39)	missense	probably benign	0.00
R9795:Or4a78	UTSW	2	89,497,811 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGTCAATGATATTGGGACCACAG -3'
(R):5'- TGCTCATCGTAGGAACAGTG -3'

Sequencing Primer
(F):5'- TCAATGATATTGGGACCACAGAATGG -3'
(R):5'- CTCATCGTAGGAACAGTGATTGCC -3'

Posted On

2014-10-15