Mutagenetix > Incidental Mutation

Incidental Mutation 'R7455:Or7g12'

578079

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

045529-MU

Accession Numbers

Essential gene?

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

Stock #

R7455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18899286-18900224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18900150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 289 (I289V)

Ref Sequence

ENSEMBL: ENSMUSP00000083680 (fasta)

Gene Model

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

AlphaFold

Q7TRG8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086492
AA Change: I289V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083680
Gene: ENSMUSG00000095525
AA Change: I289V

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	C	T	7: 76,074,503 (GRCm39)	H646Y	unknown	Het
Ak5	C	T	3: 152,187,209 (GRCm39)	R426H	probably damaging	Het
Akap9	T	C	5: 4,022,792 (GRCm39)	V1207A	probably benign	Het
Asph	A	T	4: 9,531,732 (GRCm39)		probably null	Het
Avpr1a	T	G	10: 122,285,169 (GRCm39)	C154G	probably damaging	Het
Boll	T	C	1: 55,339,262 (GRCm39)	Q283R	probably benign	Het
Cad	C	T	5: 31,231,506 (GRCm39)	P1743S	probably damaging	Het
Ccdc137	T	G	11: 120,350,985 (GRCm39)	M129R	probably damaging	Het
Cdh23	A	G	10: 60,142,003 (GRCm39)	I3028T	possibly damaging	Het
Cep68	T	A	11: 20,180,571 (GRCm39)	I687F	probably damaging	Het
Ces2a	T	A	8: 105,464,154 (GRCm39)	I262N	probably damaging	Het
Cfap44	A	G	16: 44,225,147 (GRCm39)		probably benign	Het
Cfap69	T	G	5: 5,675,873 (GRCm39)	H247P	possibly damaging	Het
Cideb	T	C	14: 55,992,292 (GRCm39)	T134A	probably damaging	Het
Cilp2	A	T	8: 70,333,721 (GRCm39)	D1092E	probably damaging	Het
Cptp	G	A	4: 155,950,957 (GRCm39)	R170C	probably damaging	Het
Cysrt1	A	G	2: 25,129,422 (GRCm39)	L30S	probably benign	Het
Dcc	A	G	18: 71,553,394 (GRCm39)	V754A	probably benign	Het
Entrep2	A	G	7: 64,409,161 (GRCm39)	V411A	probably benign	Het
Fer1l5	A	T	1: 36,428,064 (GRCm39)	T453S	probably benign	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,608,159 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,479,701 (GRCm39)		probably null	Het
Gm13941	A	G	2: 110,925,085 (GRCm39)	F173L	unknown	Het
Greb1l	G	A	18: 10,554,915 (GRCm39)	A1654T	probably damaging	Het
Inpp4b	T	A	8: 82,798,332 (GRCm39)	I840N	probably damaging	Het
Kdm4b	T	A	17: 56,703,657 (GRCm39)	I746N	probably damaging	Het
Lins1	C	A	7: 66,361,692 (GRCm39)	H448N	probably benign	Het
Ly9	A	T	1: 171,421,507 (GRCm39)	Y581*	probably null	Het
Mark1	T	A	1: 184,651,947 (GRCm39)	E186V	probably damaging	Het
Mcph1	T	A	8: 18,681,775 (GRCm39)	V304E	probably benign	Het
Mical3	T	C	6: 120,935,705 (GRCm39)	D1607G	probably damaging	Het
Mup18	A	G	4: 61,592,171 (GRCm39)	V31A	probably benign	Het
Nectin3	A	T	16: 46,317,105 (GRCm39)	C11*	probably null	Het
Nedd1	A	T	10: 92,536,787 (GRCm39)	L172M	probably benign	Het
Nim1k	G	A	13: 120,173,995 (GRCm39)	R300W	probably damaging	Het
Oprm1	T	C	10: 6,780,204 (GRCm39)	F289L	probably damaging	Het
Or4c115	G	T	2: 88,927,434 (GRCm39)	P279Q	probably damaging	Het
Or8c8	T	C	9: 38,165,550 (GRCm39)	V276A	probably damaging	Het
Parg	T	C	14: 31,931,432 (GRCm39)	Y351H	probably benign	Het
Phf3	A	C	1: 30,876,239 (GRCm39)	V118G	probably damaging	Het
Pik3c2g	T	C	6: 139,913,643 (GRCm39)	Y1014H	unknown	Het
Pmp22	A	G	11: 63,025,339 (GRCm39)		probably null	Het
Ppfibp1	T	A	6: 146,917,848 (GRCm39)	F501L	probably damaging	Het
Rgl2	G	A	17: 34,151,657 (GRCm39)	A234T	probably benign	Het
Rhpn2	G	A	7: 35,070,669 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,559,211 (GRCm39)	K3058E	probably damaging	Het
Sbsn	A	T	7: 30,452,602 (GRCm39)	Q539L	possibly damaging	Het
Scgn	G	A	13: 24,150,848 (GRCm39)	R168C	probably benign	Het
Serpinb10	A	G	1: 107,463,832 (GRCm39)	Y38C	probably damaging	Het
Sfmbt2	G	A	2: 10,582,766 (GRCm39)	V709I	probably benign	Het
Slc1a2	A	T	2: 102,566,299 (GRCm39)	M10L	probably benign	Het
Sox6	T	G	7: 115,088,904 (GRCm39)	I653L	probably benign	Het
Tespa1	A	G	10: 130,196,559 (GRCm39)	I166V	probably benign	Het
Tex15	T	C	8: 34,067,025 (GRCm39)	Y2152H	possibly damaging	Het
Tlr9	A	G	9: 106,101,729 (GRCm39)	N340S	probably benign	Het
Tmem198	G	A	1: 75,456,430 (GRCm39)	R28Q	unknown	Het
Tut7	T	C	13: 59,969,871 (GRCm39)	Y8C	probably benign	Het
Vmn2r7	T	C	3: 64,624,014 (GRCm39)	D102G	probably benign	Het
Wdr93	A	G	7: 79,425,267 (GRCm39)	M529V	probably benign	Het
Zfp110	A	G	7: 12,581,984 (GRCm39)	H310R	probably benign	Het
Zfp36l2	A	G	17: 84,494,575 (GRCm39)	S21P	probably damaging	Het
Zfp534	G	A	4: 147,759,212 (GRCm39)	H486Y	probably damaging	Het
Zfp638	G	A	6: 83,907,127 (GRCm39)	V431I	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
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
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'- ACAAGCCTGTTGGGTGTTC -3'
(R):5'- CAAACCATAGTTCTCATGTTCCACC -3'

Sequencing Primer
(F):5'- TAAAAATTCCATCAGCTGCAGG -3'
(R):5'- CCATTTGATATATGGTTGAATGCCCC -3'

Posted On

2019-10-07