Mutagenetix > Incidental Mutation

Incidental Mutation 'R3508:Or4a78'

267445

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

040664-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R3508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89497272-89498228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89497816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 138 (V138A)

Ref Sequence

ENSEMBL: ENSMUSP00000150028 (fasta)

Gene Model

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

AlphaFold

Q7TQZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000099767
AA Change: V138A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097355
Gene: ENSMUSG00000075077
AA Change: V138A

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 benign
Transcript: ENSMUST00000188085
AA Change: V138A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140591
Gene: ENSMUSG00000100323
AA Change: V138A

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 benign
Transcript: ENSMUST00000214304
AA Change: V138A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000214639
AA Change: V138A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000214750
AA Change: V138A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,953,991 (GRCm39)	F816L	probably benign	Het
Adgrl3	C	A	5: 81,872,103 (GRCm39)	N932K	probably damaging	Het
Apol8	T	C	15: 77,633,643 (GRCm39)	E311G	probably damaging	Het
Atad2b	G	A	12: 5,000,595 (GRCm39)		probably null	Het
Carmil1	A	G	13: 24,203,659 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,217,576 (GRCm39)	S332P	possibly damaging	Het
Cep162	A	G	9: 87,114,030 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,721,286 (GRCm39)	S2482C	unknown	Het
Cnpy1	T	C	5: 28,412,365 (GRCm39)	E107G	probably damaging	Het
Crtac1	C	T	19: 42,293,180 (GRCm39)	V310I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Elmo1	T	C	13: 20,789,402 (GRCm39)	I706T	probably damaging	Het
F12	T	C	13: 55,568,872 (GRCm39)	T297A	probably benign	Het
Fanci	A	G	7: 79,083,220 (GRCm39)	I736V	probably benign	Het
Fbn1	T	C	2: 125,148,247 (GRCm39)	N2667S	probably benign	Het
Flt4	T	C	11: 49,524,941 (GRCm39)	S596P	probably damaging	Het
Fndc1	G	A	17: 7,983,940 (GRCm39)	R1329*	probably null	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
H2-M10.1	T	G	17: 36,636,506 (GRCm39)	R99S	possibly damaging	Het
Homer3	T	A	8: 70,744,005 (GRCm39)	V243D	probably benign	Het
Hspa14	A	G	2: 3,492,045 (GRCm39)	S437P	probably damaging	Het
Inpp1	A	T	1: 52,838,550 (GRCm39)	I33N	probably damaging	Het
Ipo5	T	A	14: 121,176,956 (GRCm39)	Y714N	probably damaging	Het
Kif27	T	C	13: 58,461,026 (GRCm39)	E898G	possibly damaging	Het
Klhdc7b	T	A	15: 89,271,095 (GRCm39)	M1K	probably null	Het
Krt87	A	G	15: 101,386,039 (GRCm39)	Y241H	probably benign	Het
Mfsd4b1	A	G	10: 39,878,715 (GRCm39)	I394T	probably benign	Het
Micall1	A	G	15: 79,006,965 (GRCm39)	D264G	probably damaging	Het
Mms22l	T	G	4: 24,586,224 (GRCm39)	D905E	probably benign	Het
Musk	A	G	4: 58,327,347 (GRCm39)	D217G	probably damaging	Het
Napb	T	C	2: 148,540,880 (GRCm39)	T236A	probably benign	Het
Nbn	T	A	4: 15,962,387 (GRCm39)	D38E	probably damaging	Het
Ncaph	T	C	2: 126,969,113 (GRCm39)	N87D	probably benign	Het
Pcdhb13	T	A	18: 37,576,204 (GRCm39)	V194E	probably damaging	Het
Pck1	T	C	2: 173,000,177 (GRCm39)	V536A	possibly damaging	Het
Pld5	C	T	1: 175,821,603 (GRCm39)	G188S	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Pnkd	A	G	1: 74,389,793 (GRCm39)	T306A	probably benign	Het
Ppm1k	T	C	6: 57,491,975 (GRCm39)	E279G	probably damaging	Het
Ppm1l	G	T	3: 69,456,813 (GRCm39)	K243N	possibly damaging	Het
Ppp1r13b	T	C	12: 111,838,801 (GRCm39)	T26A	probably damaging	Het
Rtel1	T	C	2: 180,964,202 (GRCm39)	V67A	probably benign	Het
Rxfp4	T	C	3: 88,559,899 (GRCm39)	E184G	probably damaging	Het
Scp2d1	A	G	2: 144,665,918 (GRCm39)	I86V	probably benign	Het
Sec16a	G	T	2: 26,315,862 (GRCm39)	P1718Q	probably damaging	Het
Sgcg	T	A	14: 61,459,195 (GRCm39)	T245S	probably benign	Het
Slc18a2	A	G	19: 59,261,989 (GRCm39)	T215A	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Sox17	G	T	1: 4,562,378 (GRCm39)	P146Q	probably damaging	Het
Spata31d1e	A	T	13: 59,890,319 (GRCm39)	Y500*	probably null	Het
Stimate	C	T	14: 30,594,537 (GRCm39)	L217F	probably damaging	Het
Sybu	T	A	15: 44,536,478 (GRCm39)	E616V	probably damaging	Het
Tk2	C	T	8: 104,957,825 (GRCm39)	V174I	probably benign	Het
Tmc5	G	A	7: 118,244,618 (GRCm39)	V499I	probably benign	Het
Tonsl	T	C	15: 76,523,956 (GRCm39)	T15A	probably benign	Het
Ttll12	A	G	15: 83,464,831 (GRCm39)	I448T	probably damaging	Het
Ttn	A	G	2: 76,584,101 (GRCm39)	S22336P	probably damaging	Het
Ubap1	C	A	4: 41,379,163 (GRCm39)	H126N	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vmn2r84	T	C	10: 130,226,777 (GRCm39)	N354D	probably damaging	Het
Vpreb3	A	C	10: 75,785,037 (GRCm39)	H45P	probably benign	Het
Zc3h13	T	A	14: 75,546,380 (GRCm39)	Y160*	probably null	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
R2213:Or4a78	UTSW	2	89,497,891 (GRCm39)	missense	probably damaging	1.00
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
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'- TTGCTCCATTATTGCCAATGAC -3'
(R):5'- GGATGCTGTTTATTCCACTGC -3'

Sequencing Primer
(F):5'- GCTCCATTATTGCCAATGACAGAAAG -3'
(R):5'- CACCCAAGTTGATTGTAGACTTGC -3'

Posted On

2015-02-18