Mutagenetix > Incidental Mutation

Incidental Mutation 'R6272:Or8g4'

507403

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

044442-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39661684-39662616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39661816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 45 (M45L)

Ref Sequence

ENSEMBL: ENSMUSP00000150183 (fasta)

Gene Model

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

AlphaFold

Q7TRA6

Predicted Effect

probably benign
Transcript: ENSMUST00000069561
AA Change: M45L

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000064201
Gene: ENSMUSG00000055820
AA Change: M45L

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

probably benign
Transcript: ENSMUST00000213358
AA Change: M45L

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Adgrg3	A	G	8: 95,762,889 (GRCm39)	I189V	noncoding transcript	Het
Ampd1	A	G	3: 102,992,699 (GRCm39)	K147R	possibly damaging	Het
Apbb2	T	C	5: 66,468,415 (GRCm39)	T561A	probably damaging	Het
Arfgef3	A	T	10: 18,522,711 (GRCm39)	D438E	probably benign	Het
Atxn1	T	A	13: 45,721,238 (GRCm39)	Q219L	possibly damaging	Het
AW551984	A	T	9: 39,509,333 (GRCm39)	D269E	probably benign	Het
Cryab	A	G	9: 50,665,825 (GRCm39)	K72R	possibly damaging	Het
Dbn1	G	A	13: 55,622,917 (GRCm39)	A522V	probably benign	Het
Dip2a	A	T	10: 76,122,241 (GRCm39)	*158R	probably null	Het
Edrf1	C	T	7: 133,239,537 (GRCm39)		probably benign	Het
Ern2	A	T	7: 121,775,869 (GRCm39)	D408E	probably benign	Het
F830016B08Rik	T	C	18: 60,433,150 (GRCm39)	S78P	probably damaging	Het
Fah	C	A	7: 84,244,753 (GRCm39)	G137C	probably damaging	Het
Foxd3	A	G	4: 99,544,977 (GRCm39)	D39G	probably damaging	Het
Gprin3	G	A	6: 59,330,316 (GRCm39)	Q664*	probably null	Het
H2-Ob	T	C	17: 34,461,618 (GRCm39)	I119T	probably benign	Het
H3c6	A	T	13: 23,746,400 (GRCm39)	V47E	probably damaging	Het
Hmgcll1	G	A	9: 76,037,627 (GRCm39)	G174R	probably damaging	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kynu	A	T	2: 43,525,001 (GRCm39)	N315Y	probably benign	Het
Map1lc3b	G	A	8: 122,323,429 (GRCm39)	E100K	probably benign	Het
Matn2	T	A	15: 34,355,753 (GRCm39)	Q33L	possibly damaging	Het
Mettl8	T	C	2: 70,806,419 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,512,940 (GRCm39)	N312Y	probably damaging	Het
Nhsl1	A	G	10: 18,400,253 (GRCm39)	D493G	probably benign	Het
Nup210l	A	G	3: 90,077,331 (GRCm39)	E889G	possibly damaging	Het
Or13l2	A	G	3: 97,318,207 (GRCm39)	F97L	probably benign	Het
Or14c42-ps1	A	G	7: 86,211,081 (GRCm39)	Y47C	unknown	Het
Or2y13	C	A	11: 49,414,953 (GRCm39)	S134R	possibly damaging	Het
Or5ac25	A	C	16: 59,181,948 (GRCm39)	M211R	possibly damaging	Het
Or5w20	G	A	2: 87,727,001 (GRCm39)	V153I	probably benign	Het
Or6k2	C	T	1: 173,986,741 (GRCm39)	T134I	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phc2	A	G	4: 128,603,440 (GRCm39)	Y190C	probably damaging	Het
Platr25	T	C	13: 62,820,811 (GRCm39)	T347A	possibly damaging	Het
Plec	T	C	15: 76,059,053 (GRCm39)	E3655G	probably damaging	Het
Plekhg3	A	T	12: 76,623,619 (GRCm39)	Q954L	probably benign	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Prdm4	G	A	10: 85,743,694 (GRCm39)	T187I	possibly damaging	Het
Prg4	T	C	1: 150,330,517 (GRCm39)		probably benign	Het
Prpf18	G	A	2: 4,638,258 (GRCm39)	R312W	probably damaging	Het
Rnf213	T	A	11: 119,305,374 (GRCm39)	V535D	probably damaging	Het
Rtcb	A	T	10: 85,791,638 (GRCm39)	N39K	probably damaging	Het
Slc4a3	G	A	1: 75,531,341 (GRCm39)		probably null	Het
Szt2	A	C	4: 118,231,487 (GRCm39)		probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tfap2e	A	T	4: 126,615,657 (GRCm39)	V259D	probably damaging	Het
Trav19	A	G	14: 54,083,255 (GRCm39)	D110G	probably damaging	Het
Ttc17	A	C	2: 94,189,100 (GRCm39)	C749W	probably damaging	Het
Ttc8	A	G	12: 98,948,753 (GRCm39)	K490E	possibly damaging	Het
Ube4b	A	G	4: 149,471,590 (GRCm39)	S99P	probably damaging	Het
Ubqln3	C	T	7: 103,791,385 (GRCm39)	R235H	probably damaging	Het
Vmn2r61	A	T	7: 41,949,242 (GRCm39)	D554V	probably damaging	Het
Vmn2r70	A	T	7: 85,208,194 (GRCm39)	V761E	probably damaging	Het
Vmn2r97	T	C	17: 19,167,861 (GRCm39)	I705T	possibly damaging	Het
Wwox	G	A	8: 115,215,692 (GRCm39)	C155Y	probably damaging	Het
Zfp451	T	C	1: 33,842,325 (GRCm39)		probably benign	Het
Zfp582	C	T	7: 6,356,844 (GRCm39)	P219L	probably damaging	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
R0099:Or8g4	UTSW	9	39,661,957 (GRCm39)	missense	possibly damaging	0.95
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
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'- GATTGGAACTGCTTGACCTTGG -3'
(R):5'- AGCTGAGTCATACATTCAGGG -3'

Sequencing Primer
(F):5'- CACACTTCCATATGTGATAGGACAGG -3'
(R):5'- CTGAGTCATACATTCAGGGTAGGAG -3'

Posted On

2018-03-15