Mutagenetix > Incidental Mutation

Incidental Mutation 'R4696:Or8g4'

355703

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

041946-MU

Accession Numbers

Essential gene?

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

Stock #

R4696 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39661684-39662616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39662024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 114 (M114K)

Ref Sequence

ENSEMBL: ENSMUSP00000150183 (fasta)

Gene Model

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

AlphaFold

Q7TRA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000069561
AA Change: M114K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064201
Gene: ENSMUSG00000055820
AA Change: M114K

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 damaging
Transcript: ENSMUST00000213358
AA Change: M114K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (74/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,241,817 (GRCm39)	S1405G	probably benign	Het
Acaca	T	C	11: 84,171,261 (GRCm39)	V1165A	possibly damaging	Het
Acin1	C	A	14: 54,880,474 (GRCm39)		probably benign	Het
Akr1b8	G	A	6: 34,340,312 (GRCm39)	V159I	probably benign	Het
Alms1	T	C	6: 85,597,504 (GRCm39)	Y777H	probably damaging	Het
Cblc	C	A	7: 19,530,407 (GRCm39)	G101C	probably damaging	Het
Cdc42ep5	G	A	7: 4,154,614 (GRCm39)	P58L	possibly damaging	Het
Cic	A	G	7: 24,987,908 (GRCm39)	N1532S	probably benign	Het
Cipc	T	A	12: 86,999,714 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,617,146 (GRCm39)	I835V	probably benign	Het
Cntrob	C	T	11: 69,211,714 (GRCm39)	G170D	probably damaging	Het
Col14a1	A	G	15: 55,235,998 (GRCm39)	Q304R	unknown	Het
Csmd3	T	C	15: 47,777,364 (GRCm39)	T1181A	probably benign	Het
Dchs1	A	G	7: 105,413,834 (GRCm39)	F994L	probably damaging	Het
Ddx42	C	A	11: 106,138,529 (GRCm39)	A776D	probably benign	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dmpk	A	T	7: 18,822,139 (GRCm39)	N366Y	probably damaging	Het
Dmrt1	A	G	19: 25,580,674 (GRCm39)	Y362C	possibly damaging	Het
Dock10	C	T	1: 80,493,330 (GRCm39)	G1880D	possibly damaging	Het
Dzip1l	A	G	9: 99,545,664 (GRCm39)	R638G	possibly damaging	Het
Dzip3	T	A	16: 48,746,332 (GRCm39)		probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Eno4	T	C	19: 58,934,068 (GRCm39)	S90P	probably damaging	Het
Epn2	C	G	11: 61,426,129 (GRCm39)	A283P	probably damaging	Het
Eya3	T	A	4: 132,397,543 (GRCm39)	Y67*	probably null	Het
Fat2	T	C	11: 55,175,841 (GRCm39)	N1624S	probably benign	Het
Fez1	T	A	9: 36,781,766 (GRCm39)		probably null	Het
Fgfr1	T	C	8: 26,053,504 (GRCm39)	S260P	probably damaging	Het
Glb1	A	G	9: 114,293,220 (GRCm39)	S532G	probably benign	Het
Gm15455	A	T	1: 33,876,874 (GRCm39)		noncoding transcript	Het
Grid2ip	A	G	5: 143,377,131 (GRCm39)		probably benign	Het
Guca2b	C	A	4: 119,513,996 (GRCm39)	G129V	probably damaging	Het
Hes3	T	C	4: 152,372,124 (GRCm39)	E65G	probably damaging	Het
Itgbl1	T	C	14: 124,204,120 (GRCm39)	C404R	probably damaging	Het
Kansl1	C	T	11: 104,247,593 (GRCm39)	V586I	possibly damaging	Het
Krt18	A	G	15: 101,940,293 (GRCm39)	D390G	probably benign	Het
Laptm5	T	C	4: 130,660,982 (GRCm39)		probably benign	Het
Lgals3bp	C	T	11: 118,288,977 (GRCm39)	E116K	probably benign	Het
Lrrc39	C	T	3: 116,363,769 (GRCm39)	S114F	probably damaging	Het
Mfap3	T	C	11: 57,419,117 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,899,931 (GRCm39)	H481R	probably benign	Het
Ntm	T	C	9: 29,090,501 (GRCm39)	T73A	possibly damaging	Het
Or5m13b	T	A	2: 85,749,215 (GRCm39)		probably null	Het
Pbk	G	A	14: 66,049,386 (GRCm39)	C21Y	probably benign	Het
Pglyrp1	A	G	7: 18,618,871 (GRCm39)	E74G	probably benign	Het
R3hdm1	G	T	1: 128,164,503 (GRCm39)		probably benign	Het
Rap1gds1	T	C	3: 138,633,375 (GRCm39)	T599A	probably damaging	Het
Rigi	A	G	4: 40,203,798 (GRCm39)		probably benign	Het
Rims1	A	T	1: 22,358,836 (GRCm39)	M1273K	probably damaging	Het
Sbf1	G	A	15: 89,187,315 (GRCm39)	R721*	probably null	Het
Slc17a1	T	C	13: 24,064,700 (GRCm39)	I388T	probably damaging	Het
Sprn	A	C	7: 139,733,469 (GRCm39)		probably benign	Het
Tango6	T	C	8: 107,426,863 (GRCm39)	V459A	possibly damaging	Het
Tert	C	T	13: 73,775,939 (GRCm39)	T230I	probably benign	Het
Thada	T	C	17: 84,733,614 (GRCm39)	D1011G	possibly damaging	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trip11	A	T	12: 101,851,549 (GRCm39)	N838K	possibly damaging	Het
Ttn	A	G	2: 76,597,997 (GRCm39)	W19639R	probably damaging	Het
Ubr4	T	A	4: 139,135,983 (GRCm39)	S924T	probably benign	Het
Upb1	A	G	10: 75,250,861 (GRCm39)	E110G	probably benign	Het
Vegfa	C	T	17: 46,339,272 (GRCm39)		probably null	Het
Vmn1r231	T	C	17: 21,110,901 (GRCm39)	K5E	possibly damaging	Het
Vmn2r16	A	T	5: 109,487,168 (GRCm39)	I130F	probably benign	Het
Wscd2	T	A	5: 113,689,240 (GRCm39)	V82E	probably benign	Het
Zfp462	A	G	4: 55,008,612 (GRCm39)	T193A	probably benign	Het
Zfp467	A	G	6: 48,416,291 (GRCm39)		probably benign	Het
Zfp619	T	C	7: 39,186,412 (GRCm39)	L814P	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
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
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'- ACACTGATTCTGCTCAGCTC -3'
(R):5'- GCTCCAATAACGGGAAAAGATC -3'

Sequencing Primer
(F):5'- GATTCTGCTCAGCTCCCACCTG -3'
(R):5'- CCAATAACGGGAAAAGATCACAGAAG -3'

Posted On

2015-10-21