Mutagenetix > Incidental Mutation

Incidental Mutation 'R0099:Or8g4'

33153

Institutional Source

Beutler Lab

Gene Symbol

Or8g4

Ensembl Gene

ENSMUSG00000055820

Gene Name

olfactory receptor family 8 subfamily G member 4

Synonyms

Olfr967, GA_x6K02T2PVTD-33447884-33448816, MOR171-30P

MMRRC Submission

038385-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0099 (G1)

Quality Score

204

Status

Validated (trace)

Chromosome

Chromosomal Location

39661684-39662616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39661957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 92 (I92V)

Ref Sequence

ENSEMBL: ENSMUSP00000150183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069561] [ENSMUST00000213358]

AlphaFold

Q7TRA6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069561
AA Change: I92V

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064201
Gene: ENSMUSG00000055820
AA Change: I92V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5.6e-50	PFAM
Pfam:7tm_1	41	290	6.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213358
AA Change: I92V

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (65/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018M24Rik	C	T	14: 51,134,179 (GRCm39)		probably benign	Het
Aadacl2fm1	A	C	3: 59,843,856 (GRCm39)	K183N	probably benign	Het
Acad10	A	C	5: 121,759,353 (GRCm39)	D1043E	probably damaging	Het
Adamtsl4	C	T	3: 95,591,449 (GRCm39)	G173R	probably benign	Het
Astn1	G	T	1: 158,329,721 (GRCm39)	S192I	probably damaging	Het
Atg2a	T	A	19: 6,302,819 (GRCm39)	V1010E	probably damaging	Het
Col11a2	A	G	17: 34,268,648 (GRCm39)	E311G	probably damaging	Het
Col4a3	A	C	1: 82,695,714 (GRCm39)	E1638A	probably benign	Het
Cstf2t	A	G	19: 31,061,231 (GRCm39)	R256G	probably benign	Het
Cyp4a12a	T	C	4: 115,183,869 (GRCm39)	L225P	probably damaging	Het
Dnah5	G	A	15: 28,240,080 (GRCm39)	R479H	probably damaging	Het
Dsg3	A	G	18: 20,673,079 (GRCm39)	I917V	probably benign	Het
Fam76a	G	T	4: 132,638,098 (GRCm39)		probably benign	Het
Fras1	T	A	5: 96,762,776 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,171,875 (GRCm39)	V293A	probably damaging	Het
Gm10782	T	A	13: 56,510,956 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,509,158 (GRCm39)	E490G	probably damaging	Het
Hydin	G	A	8: 111,316,193 (GRCm39)	G4362R	probably damaging	Het
Ica1	A	T	6: 8,749,778 (GRCm39)		probably benign	Het
Ikzf4	T	A	10: 128,470,066 (GRCm39)	I485F	probably damaging	Het
Irf5	A	G	6: 29,533,966 (GRCm39)	T34A	probably damaging	Het
Krt81	A	T	15: 101,361,402 (GRCm39)	C59*	probably null	Het
Kynu	T	A	2: 43,519,065 (GRCm39)		probably null	Het
Ly6g6c	T	C	17: 35,287,891 (GRCm39)	V61A	probably damaging	Het
Manea	A	C	4: 26,328,104 (GRCm39)	I312M	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Mthfs	A	T	9: 89,108,216 (GRCm39)		probably benign	Het
Myh4	A	G	11: 67,150,173 (GRCm39)	T1877A	probably benign	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nepn	A	G	10: 52,277,181 (GRCm39)	S306G	probably damaging	Het
Nol8	T	C	13: 49,826,165 (GRCm39)	V995A	probably benign	Het
Or5b101	A	G	19: 13,005,165 (GRCm39)	F176S	probably damaging	Het
Or5b105	T	A	19: 13,080,504 (GRCm39)	T49S	probably benign	Het
Or8a1b	A	T	9: 37,622,750 (GRCm39)	V275E	probably damaging	Het
Pde1a	T	A	2: 79,698,657 (GRCm39)		probably null	Het
Phf14	A	G	6: 11,987,696 (GRCm39)		probably benign	Het
Plekhh2	C	T	17: 84,899,100 (GRCm39)	Q1026*	probably null	Het
Polr2b	T	A	5: 77,468,797 (GRCm39)		probably benign	Het
Ppp1r36	G	T	12: 76,483,056 (GRCm39)		probably null	Het
Prdm14	A	T	1: 13,189,169 (GRCm39)	C392S	probably damaging	Het
Rabgap1l	A	G	1: 160,509,686 (GRCm39)	S436P	possibly damaging	Het
Rfc2	A	T	5: 134,624,135 (GRCm39)		probably null	Het
Rfx4	A	T	10: 84,730,168 (GRCm39)	M437L	probably benign	Het
Rgs17	T	A	10: 5,792,583 (GRCm39)	R74S	probably benign	Het
Rnf139	C	A	15: 58,771,264 (GRCm39)	L430I	probably damaging	Het
Sgsm1	C	A	5: 113,422,226 (GRCm39)		probably benign	Het
Skint6	T	A	4: 112,668,698 (GRCm39)	T1126S	possibly damaging	Het
Slc15a2	T	C	16: 36,573,398 (GRCm39)	E602G	probably damaging	Het
Stpg2	T	C	3: 138,948,954 (GRCm39)		probably benign	Het
Sycp2l	T	C	13: 41,283,001 (GRCm39)		probably benign	Het
Tlr11	A	T	14: 50,598,275 (GRCm39)	N87I	probably benign	Het
Tril	A	G	6: 53,795,348 (GRCm39)	F625L	probably damaging	Het
Ube3c	T	A	5: 29,812,062 (GRCm39)	V434E	probably damaging	Het
Usp34	G	A	11: 23,313,111 (GRCm39)	G533R	probably damaging	Het
Utp25	A	G	1: 192,810,778 (GRCm39)	L75P	probably damaging	Het
Zfp93	G	T	7: 23,974,900 (GRCm39)	R295L	probably benign	Het

Other mutations in Or8g4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02418:Or8g4	APN	9	39,661,787 (GRCm39)	missense	probably damaging	0.99
IGL02900:Or8g4	APN	9	39,661,901 (GRCm39)	missense	probably benign	0.01
R0586:Or8g4	UTSW	9	39,662,414 (GRCm39)	missense	probably damaging	0.98
R0653:Or8g4	UTSW	9	39,661,934 (GRCm39)	missense	probably benign	0.26
R0839:Or8g4	UTSW	9	39,661,687 (GRCm39)	missense	probably benign
R1701:Or8g4	UTSW	9	39,662,365 (GRCm39)	missense	probably damaging	1.00
R1744:Or8g4	UTSW	9	39,661,711 (GRCm39)	missense	probably benign	0.33
R1902:Or8g4	UTSW	9	39,662,102 (GRCm39)	missense	probably benign	0.01
R4696:Or8g4	UTSW	9	39,662,024 (GRCm39)	missense	probably damaging	0.98
R5252:Or8g4	UTSW	9	39,661,784 (GRCm39)	missense	probably damaging	0.98
R5660:Or8g4	UTSW	9	39,662,063 (GRCm39)	missense	probably damaging	1.00
R6272:Or8g4	UTSW	9	39,661,816 (GRCm39)	missense	probably benign	0.39
R6976:Or8g4	UTSW	9	39,662,540 (GRCm39)	missense	probably damaging	1.00
R7078:Or8g4	UTSW	9	39,661,787 (GRCm39)	missense	possibly damaging	0.92
R7167:Or8g4	UTSW	9	39,661,865 (GRCm39)	missense	probably damaging	0.96
R7701:Or8g4	UTSW	9	39,662,597 (GRCm39)	missense	probably benign
R7980:Or8g4	UTSW	9	39,662,417 (GRCm39)	missense	probably damaging	0.99
R8026:Or8g4	UTSW	9	39,662,092 (GRCm39)	missense	possibly damaging	0.80
R8701:Or8g4	UTSW	9	39,662,210 (GRCm39)	missense	probably damaging	1.00
R8790:Or8g4	UTSW	9	39,662,204 (GRCm39)	missense	probably damaging	1.00
R8822:Or8g4	UTSW	9	39,661,700 (GRCm39)	missense	probably benign	0.01
R8825:Or8g4	UTSW	9	39,661,994 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGGCATGATCACACTGATTCTG -3'
(R):5'- GGTTTAGCATGGGCACAACAATGG -3'

Sequencing Primer
(F):5'- GATCACACTGATTCTGCTCAGC -3'
(R):5'- CATGCACACTGTGTGAGCTG -3'

Posted On

2013-05-09