Mutagenetix > Incidental Mutation

Incidental Mutation 'R0711:Or7g12'

62743

Institutional Source

Beutler Lab

Gene Symbol

Or7g12

Ensembl Gene

ENSMUSG00000095525

Gene Name

olfactory receptor family 7 subfamily G member 12

Synonyms

GA_x6K02T2PVTD-12724921-12725859, MOR153-2, Olfr834, MOR153-4_p

MMRRC Submission

038894-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R0711 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

18899286-18900224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18899447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 54 (N54K)

Ref Sequence

ENSEMBL: ENSMUSP00000083680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086492]

AlphaFold

Q7TRG8

Predicted Effect

probably benign
Transcript: ENSMUST00000086492
AA Change: N54K

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083680
Gene: ENSMUSG00000095525
AA Change: N54K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.2e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7e-6	PFAM
Pfam:7tm_1	41	290	2.9e-20	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 91.4%

Validation Efficiency

100% (91/91)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,986 (GRCm39)	D1058E	probably damaging	Het
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Afdn	C	T	17: 14,072,698 (GRCm39)	P874S	probably damaging	Het
Ankrd6	G	A	4: 32,815,326 (GRCm39)	A391V	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Asxl3	G	T	18: 22,657,508 (GRCm39)	M1839I	probably benign	Het
BC005537	T	C	13: 24,989,923 (GRCm39)	F129L	probably damaging	Het
Celf2	A	G	2: 6,726,226 (GRCm39)		probably null	Het
Chid1	C	T	7: 141,076,590 (GRCm39)	V325I	probably benign	Het
Cnn3	T	A	3: 121,243,633 (GRCm39)	D31E	probably benign	Het
Col12a1	G	A	9: 79,559,317 (GRCm39)	P1857L	probably damaging	Het
Cpeb1	T	A	7: 81,001,618 (GRCm39)	R430W	probably benign	Het
Daw1	T	C	1: 83,169,059 (GRCm39)		probably benign	Het
Dcaf13	A	G	15: 39,001,484 (GRCm39)	Y264C	probably damaging	Het
Dnah6	T	C	6: 73,064,585 (GRCm39)	I2666V	probably damaging	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dock10	A	T	1: 80,501,692 (GRCm39)	F1833I	probably damaging	Het
Efhd2	C	T	4: 141,587,183 (GRCm39)	A200T	probably damaging	Het
Epb41l5	T	A	1: 119,551,641 (GRCm39)		probably benign	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Gkn2	T	C	6: 87,350,401 (GRCm39)		probably benign	Het
Golgb1	A	T	16: 36,739,152 (GRCm39)	Q2497L	probably damaging	Het
Gzme	A	T	14: 56,355,196 (GRCm39)	M245K	probably damaging	Het
Iars2	A	T	1: 185,054,585 (GRCm39)		probably benign	Het
Icosl	T	A	10: 77,909,775 (GRCm39)	V240D	probably damaging	Het
Igsf3	T	C	3: 101,334,709 (GRCm39)	M262T	probably benign	Het
Ing3	G	T	6: 21,971,236 (GRCm39)	E336*	probably null	Het
Kat2a	A	T	11: 100,597,297 (GRCm39)	V625E	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,583 (GRCm39)	M122L	probably benign	Het
Mdfi	A	T	17: 48,143,855 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,192,179 (GRCm39)		probably benign	Het
Msh6	C	T	17: 88,294,112 (GRCm39)	R956C	probably damaging	Het
Myo15b	A	G	11: 115,774,664 (GRCm39)	E670G	probably damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Or4s2b	A	G	2: 88,509,018 (GRCm39)	D266G	probably damaging	Het
Or51ai2	G	A	7: 103,587,024 (GRCm39)	A146T	probably benign	Het
Pde8b	C	G	13: 95,244,325 (GRCm39)	S143T	possibly damaging	Het
Pias4	G	T	10: 80,993,364 (GRCm39)		probably benign	Het
Prkca	A	G	11: 107,872,480 (GRCm39)	Y427H	probably benign	Het
Psg25	G	A	7: 18,263,485 (GRCm39)	Q113*	probably null	Het
Rab3gap2	T	A	1: 184,982,123 (GRCm39)	S392T	probably damaging	Het
Scrib	A	G	15: 75,938,756 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,793,970 (GRCm39)		probably benign	Het
Serpinb1c	T	A	13: 33,070,266 (GRCm39)		probably benign	Het
Serpinb9f	T	A	13: 33,511,904 (GRCm39)	W136R	probably damaging	Het
Skic3	C	T	13: 76,331,010 (GRCm39)	P1480L	probably damaging	Het
Skint10	C	A	4: 112,573,102 (GRCm39)		probably benign	Het
Slc25a13	T	C	6: 6,117,128 (GRCm39)	T196A	probably damaging	Het
Slc26a5	T	C	5: 22,052,230 (GRCm39)	H33R	probably damaging	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,251 (GRCm39)	Y819N	probably damaging	Het
Spata46	C	T	1: 170,139,603 (GRCm39)	Q201*	probably null	Het
Sptbn1	A	T	11: 30,064,739 (GRCm39)	V1920E	probably damaging	Het
Taf6l	A	G	19: 8,755,881 (GRCm39)	F256L	probably benign	Het
Tmco3	T	A	8: 13,342,039 (GRCm39)	N104K	probably damaging	Het
Tmem200c	A	G	17: 69,149,249 (GRCm39)	T611A	probably damaging	Het
Tmem202	T	G	9: 59,432,655 (GRCm39)	Y24S	probably damaging	Het
Tpp1	A	G	7: 105,398,626 (GRCm39)	L230P	probably damaging	Het
Trim56	C	T	5: 137,141,846 (GRCm39)	E557K	probably benign	Het
Trrap	C	T	5: 144,790,309 (GRCm39)	L3590F	probably damaging	Het
Tulp4	A	G	17: 6,189,387 (GRCm39)	T70A	possibly damaging	Het
Vcp	G	C	4: 42,986,201 (GRCm39)	A297G	probably benign	Het
Vwf	T	A	6: 125,603,234 (GRCm39)	H861Q	probably benign	Het
Wdr64	T	C	1: 175,599,751 (GRCm39)	I536T	probably benign	Het
Zfp850	T	C	7: 27,689,698 (GRCm39)	N170S	probably benign	Het
Zfp87	G	A	13: 74,524,544 (GRCm39)		probably benign	Het

Other mutations in Or7g12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01804:Or7g12	APN	9	18,900,136 (GRCm39)	missense	probably benign	0.16
IGL02073:Or7g12	APN	9	18,899,621 (GRCm39)	missense	possibly damaging	0.89
IGL02119:Or7g12	APN	9	18,899,908 (GRCm39)	missense	probably benign	0.00
IGL02705:Or7g12	APN	9	18,899,696 (GRCm39)	missense	probably benign	0.03
R0462:Or7g12	UTSW	9	18,900,198 (GRCm39)	missense	probably benign
R0466:Or7g12	UTSW	9	18,899,551 (GRCm39)	missense	probably benign	0.00
R0709:Or7g12	UTSW	9	18,899,422 (GRCm39)	missense	probably damaging	0.98
R1268:Or7g12	UTSW	9	18,899,652 (GRCm39)	missense	probably damaging	0.98
R1663:Or7g12	UTSW	9	18,900,006 (GRCm39)	missense	probably damaging	0.99
R1680:Or7g12	UTSW	9	18,899,812 (GRCm39)	missense	possibly damaging	0.81
R1686:Or7g12	UTSW	9	18,899,839 (GRCm39)	missense	probably damaging	1.00
R1903:Or7g12	UTSW	9	18,900,192 (GRCm39)	nonsense	probably null
R1907:Or7g12	UTSW	9	18,899,737 (GRCm39)	missense	possibly damaging	0.82
R1911:Or7g12	UTSW	9	18,900,196 (GRCm39)	missense	probably damaging	0.99
R2143:Or7g12	UTSW	9	18,900,099 (GRCm39)	missense	probably benign	0.06
R2431:Or7g12	UTSW	9	18,899,299 (GRCm39)	missense	probably damaging	1.00
R4014:Or7g12	UTSW	9	18,900,178 (GRCm39)	missense	probably benign	0.08
R4515:Or7g12	UTSW	9	18,899,278 (GRCm39)	splice site	probably null
R4575:Or7g12	UTSW	9	18,900,001 (GRCm39)	nonsense	probably null
R6974:Or7g12	UTSW	9	18,899,689 (GRCm39)	missense	probably damaging	0.99
R7394:Or7g12	UTSW	9	18,900,006 (GRCm39)	missense	probably damaging	0.99
R7455:Or7g12	UTSW	9	18,900,150 (GRCm39)	missense	possibly damaging	0.92
R7828:Or7g12	UTSW	9	18,900,216 (GRCm39)	missense	probably benign
R7962:Or7g12	UTSW	9	18,899,952 (GRCm39)	missense	probably damaging	0.97
R8360:Or7g12	UTSW	9	18,900,139 (GRCm39)	missense	probably benign	0.28
R8812:Or7g12	UTSW	9	18,899,812 (GRCm39)	missense	possibly damaging	0.81
R8905:Or7g12	UTSW	9	18,899,494 (GRCm39)	missense	possibly damaging	0.92
R8973:Or7g12	UTSW	9	18,899,974 (GRCm39)	nonsense	probably null
R8980:Or7g12	UTSW	9	18,899,423 (GRCm39)	missense	probably damaging	1.00
R9013:Or7g12	UTSW	9	18,899,874 (GRCm39)	missense	possibly damaging	0.94
R9058:Or7g12	UTSW	9	18,900,222 (GRCm39)	makesense	probably null
R9614:Or7g12	UTSW	9	18,899,526 (GRCm39)	missense	possibly damaging	0.75
R9779:Or7g12	UTSW	9	18,900,135 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AAAGAAAGCCCTCTTCATGCTATTCCC -3'
(R):5'- TGATGACTGTGTACCTCAGTGGATGAC -3'

Sequencing Primer
(F):5'- TCCCCTAATTTTCTTTCTTAGCATC -3'
(R):5'- TGTCATAGGCCATCATTACCAG -3'

Posted On

2013-07-30