Mutagenetix > Incidental Mutation

Incidental Mutation 'R1663:Or7g12'

186940

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

039699-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R1663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18899286-18900224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18900006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 241 (C241S)

Ref Sequence

ENSEMBL: ENSMUSP00000083680 (fasta)

Gene Model

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

AlphaFold

Q7TRG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000086492
AA Change: C241S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083680
Gene: ENSMUSG00000095525
AA Change: C241S

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,177,949 (GRCm39)	T11S	probably benign	Het
Adgb	T	C	10: 10,215,419 (GRCm39)	M1529V	possibly damaging	Het
Ankrd36	T	A	11: 5,570,126 (GRCm39)	D531E	possibly damaging	Het
Ankzf1	C	T	1: 75,172,914 (GRCm39)	P337S	probably damaging	Het
Apc	A	G	18: 34,401,378 (GRCm39)	I55V	probably damaging	Het
Aplnr	A	G	2: 84,967,038 (GRCm39)	D21G	possibly damaging	Het
Apol10b	A	T	15: 77,472,914 (GRCm39)	F47I	probably damaging	Het
Arhgef5	G	A	6: 43,253,899 (GRCm39)	A1131T	probably damaging	Het
Arrb2	A	T	11: 70,328,429 (GRCm39)	Q83L	probably damaging	Het
Atf7ip	A	G	6: 136,580,322 (GRCm39)	Q1082R	possibly damaging	Het
Atl2	A	G	17: 80,172,140 (GRCm39)	S28P	probably damaging	Het
Brd7	T	C	8: 89,084,651 (GRCm39)	K89E	possibly damaging	Het
Cc2d1b	A	G	4: 108,480,744 (GRCm39)	T55A	probably damaging	Het
Ccdc18	A	G	5: 108,363,956 (GRCm39)	E1217G	probably damaging	Het
Cdc42ep4	A	T	11: 113,620,277 (GRCm39)	M38K	probably damaging	Het
Cldn14	A	G	16: 93,716,166 (GRCm39)	S227P	probably damaging	Het
Clspn	T	A	4: 126,459,768 (GRCm39)	C332S	probably benign	Het
Col5a1	T	C	2: 27,841,488 (GRCm39)	S370P	unknown	Het
Comp	T	C	8: 70,826,250 (GRCm39)	L10P	possibly damaging	Het
Dcc	A	T	18: 71,959,123 (GRCm39)	N216K	probably damaging	Het
Dcstamp	C	T	15: 39,618,340 (GRCm39)	Q250*	probably null	Het
Drd5	T	C	5: 38,478,198 (GRCm39)	F397S	probably benign	Het
Dst	T	C	1: 34,202,466 (GRCm39)	S265P	probably damaging	Het
Dync2i1	T	C	12: 116,193,230 (GRCm39)	Q574R	probably benign	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Eno3	T	C	11: 70,553,100 (GRCm39)		probably null	Het
Fam13a	G	A	6: 58,931,357 (GRCm39)	R408*	probably null	Het
Gipc2	T	A	3: 151,799,801 (GRCm39)	M310L	probably benign	Het
Gm14496	T	C	2: 181,639,230 (GRCm39)	V440A	probably benign	Het
Gzmg	A	T	14: 56,394,265 (GRCm39)	C210S	probably damaging	Het
Helb	G	T	10: 119,941,338 (GRCm39)	A450E	probably damaging	Het
Hepacam2	A	T	6: 3,483,439 (GRCm39)	I190N	possibly damaging	Het
Hk3	A	T	13: 55,154,388 (GRCm39)	S773T	probably benign	Het
Hnrnpc	A	G	14: 52,312,852 (GRCm39)	S221P	probably damaging	Het
Ifna9	T	C	4: 88,510,220 (GRCm39)	T135A	probably benign	Het
Igfn1	C	T	1: 135,896,046 (GRCm39)	G1507R	probably benign	Het
Kank3	A	G	17: 34,037,349 (GRCm39)	T218A	probably benign	Het
Kcp	G	T	6: 29,498,964 (GRCm39)	R337S	possibly damaging	Het
Krt74	A	T	15: 101,665,109 (GRCm39)		noncoding transcript	Het
Lrp1	A	T	10: 127,392,790 (GRCm39)	D2758E	probably damaging	Het
Ly75	T	C	2: 60,144,578 (GRCm39)	E1295G	probably damaging	Het
Mccc1	C	A	3: 36,033,082 (GRCm39)	W354L	probably damaging	Het
Mmp1a	C	T	9: 7,465,657 (GRCm39)	T198M	probably benign	Het
Mtmr2	C	T	9: 13,714,797 (GRCm39)	T519I	probably damaging	Het
Nbea	A	G	3: 55,553,407 (GRCm39)	S2632P	possibly damaging	Het
Nbn	T	A	4: 15,970,903 (GRCm39)	D295E	probably benign	Het
Ndufb8	T	C	19: 44,538,820 (GRCm39)	Y167C	probably damaging	Het
Nisch	A	G	14: 30,913,478 (GRCm39)		probably benign	Het
Notch3	C	T	17: 32,375,093 (GRCm39)	G407D	probably damaging	Het
Nucb1	A	G	7: 45,148,288 (GRCm39)	F175S	probably damaging	Het
Or1l8	T	G	2: 36,817,346 (GRCm39)	Y260S	probably damaging	Het
Or6c6c	G	A	10: 129,541,160 (GRCm39)	V138M	probably benign	Het
Or8b44	T	G	9: 38,410,868 (GRCm39)	I301R	unknown	Het
Pip5k1c	T	C	10: 81,148,349 (GRCm39)	V425A	probably damaging	Het
Pnisr	T	A	4: 21,873,857 (GRCm39)		probably benign	Het
Prkag1	A	G	15: 98,713,776 (GRCm39)	V18A	probably damaging	Het
Rad50	T	C	11: 53,559,050 (GRCm39)	N1063S	probably benign	Het
Rnf170	C	T	8: 26,619,171 (GRCm39)	H132Y	probably damaging	Het
Rnf213	A	G	11: 119,328,498 (GRCm39)	D1977G	probably benign	Het
Sema3a	G	A	5: 13,607,092 (GRCm39)		probably null	Het
Setx	T	A	2: 29,016,917 (GRCm39)	C7S	probably damaging	Het
Slc23a2	A	G	2: 131,907,384 (GRCm39)	I417T	probably damaging	Het
Spink6	T	G	18: 44,204,588 (GRCm39)	F18C	unknown	Het
Sptbn1	T	C	11: 30,070,783 (GRCm39)	Q1538R	possibly damaging	Het
Strn3	A	G	12: 51,699,609 (GRCm39)	Y188H	probably damaging	Het
Tecpr1	C	A	5: 144,134,762 (GRCm39)	K1040N	probably benign	Het
Tll1	T	A	8: 64,470,720 (GRCm39)	Y901F	probably benign	Het
Tmem81	C	T	1: 132,435,635 (GRCm39)	A147V	probably benign	Het
Tnpo3	T	C	6: 29,565,758 (GRCm39)	D532G	probably benign	Het
Vmn2r19	T	A	6: 123,313,411 (GRCm39)	I827N	probably benign	Het
Wdr35	A	G	12: 9,070,000 (GRCm39)	K857R	probably benign	Het
Zfp110	A	G	7: 12,582,569 (GRCm39)	T406A	probably benign	Het
Zfp52	T	C	17: 21,782,084 (GRCm39)	L644P	possibly damaging	Het
Zfp605	G	A	5: 110,275,451 (GRCm39)	V190I	probably benign	Het
Zfp964	A	G	8: 70,116,733 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,649,805 (GRCm39)	S779P	probably benign	Het
Zswim5	T	A	4: 116,844,092 (GRCm39)	N1043K	probably damaging	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
R0711:Or7g12	UTSW	9	18,899,447 (GRCm39)	missense	probably benign	0.04
R1268:Or7g12	UTSW	9	18,899,652 (GRCm39)	missense	probably damaging	0.98
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'- AGTATCCTAGATGCACTGCTCCACA -3'
(R):5'- CCAGGTGACACATCAAAGGGAAGTT -3'

Sequencing Primer
(F):5'- GTGAACTGGCTCATATTCTCAAGC -3'
(R):5'- gagtttcttgaaagcactgacc -3'

Posted On

2014-05-09