Mutagenetix > Incidental Mutation

Incidental Mutation 'R1686:Or7g12'

189353

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

039719-MU

Accession Numbers

Essential gene?

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

Stock #

R1686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18899286-18900224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18899839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 185 (L185P)

Ref Sequence

ENSEMBL: ENSMUSP00000083680 (fasta)

Gene Model

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

AlphaFold

Q7TRG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000086492
AA Change: L185P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083680
Gene: ENSMUSG00000095525
AA Change: L185P

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

0.3605

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (85/85)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	A	10: 100,448,722 (GRCm39)	V400I	probably damaging	Het
Abcb1b	A	G	5: 8,848,782 (GRCm39)	N14S	probably damaging	Het
Adamts14	A	G	10: 61,034,439 (GRCm39)	Y1150H	probably benign	Het
Adgrg3	A	G	8: 95,759,997 (GRCm39)	N72S	probably benign	Het
Akain1	T	A	17: 69,746,527 (GRCm39)	F3I	possibly damaging	Het
Akr1c21	T	C	13: 4,627,452 (GRCm39)	L182P	probably damaging	Het
Arhgap21	A	T	2: 20,886,659 (GRCm39)	Y12N	probably damaging	Het
Aup1	A	T	6: 83,032,226 (GRCm39)	H131L	probably damaging	Het
Bag6	A	G	17: 35,363,928 (GRCm39)	T812A	possibly damaging	Het
Bmp2k	A	G	5: 97,211,392 (GRCm39)	Y520C	unknown	Het
Calm4	T	G	13: 3,888,302 (GRCm39)	V136G	probably damaging	Het
Catsper2	A	G	2: 121,230,523 (GRCm39)		probably null	Het
Cc2d2a	A	G	5: 43,896,713 (GRCm39)	T1537A	possibly damaging	Het
Cntn2	A	T	1: 132,454,049 (GRCm39)	V319D	possibly damaging	Het
Cux1	G	A	5: 136,304,235 (GRCm39)	R1314*	probably null	Het
Cxcl12	A	G	6: 117,150,508 (GRCm39)	I79V	probably damaging	Het
Cyp2j6	T	C	4: 96,412,014 (GRCm39)	D418G	probably benign	Het
Ddx28	G	C	8: 106,737,190 (GRCm39)	D289E	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	A	C	1: 24,068,887 (GRCm39)	S448A	probably benign	Het
Fbxo33	G	T	12: 59,251,626 (GRCm39)	N30K	possibly damaging	Het
Fgf12	A	C	16: 28,217,093 (GRCm39)	Y21D	probably damaging	Het
Galntl5	C	T	5: 25,415,432 (GRCm39)	S288L	probably benign	Het
Gart	G	T	16: 91,422,237 (GRCm39)	A760D	probably damaging	Het
Gba2	A	T	4: 43,573,869 (GRCm39)		probably benign	Het
Gm10518	C	A	1: 179,631,357 (GRCm39)	S139*	probably null	Het
Gm4781	A	T	10: 100,232,837 (GRCm39)		noncoding transcript	Het
Gm9790	A	G	3: 85,823,156 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,893,075 (GRCm39)	G127R	probably damaging	Het
Golim4	A	T	3: 75,802,443 (GRCm39)	V283E	probably benign	Het
Gprc5a	A	T	6: 135,055,918 (GRCm39)	I122F	possibly damaging	Het
Gzmc	T	C	14: 56,471,341 (GRCm39)	K67E	probably benign	Het
Hapln3	C	A	7: 78,771,638 (GRCm39)	V84L	probably benign	Het
Hif3a	T	A	7: 16,778,789 (GRCm39)	N377Y	possibly damaging	Het
Ifi211	G	A	1: 173,726,969 (GRCm39)	H392Y	probably damaging	Het
Iqgap3	T	A	3: 88,015,663 (GRCm39)		probably benign	Het
Itga10	T	A	3: 96,559,141 (GRCm39)	F410Y	probably damaging	Het
Jup	T	C	11: 100,263,260 (GRCm39)	Y705C	probably damaging	Het
Khsrp	C	T	17: 57,332,597 (GRCm39)	A228T	probably benign	Het
Lmntd2	C	T	7: 140,790,998 (GRCm39)	G445D	probably damaging	Het
Lyst	T	C	13: 13,809,290 (GRCm39)	V320A	possibly damaging	Het
Magel2	T	A	7: 62,027,988 (GRCm39)	H297Q	possibly damaging	Het
Mbd6	T	C	10: 127,123,286 (GRCm39)	E33G	probably damaging	Het
Mob3b	A	G	4: 34,985,910 (GRCm39)		probably benign	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mymk	A	T	2: 26,952,346 (GRCm39)	W174R	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nipal3	T	C	4: 135,174,599 (GRCm39)	Y384C	possibly damaging	Het
Nt5c3b	A	G	11: 100,330,920 (GRCm39)		probably benign	Het
Obox6	T	A	7: 15,567,750 (GRCm39)	L232F	probably damaging	Het
Obscn	A	C	11: 58,997,113 (GRCm39)		probably benign	Het
Phkb	A	G	8: 86,748,278 (GRCm39)	I706V	probably benign	Het
Plcb2	A	G	2: 118,546,168 (GRCm39)		probably benign	Het
Plek2	T	C	12: 78,941,184 (GRCm39)	D216G	probably damaging	Het
Plxnb2	T	C	15: 89,046,665 (GRCm39)	Y855C	probably damaging	Het
Prkcz	T	C	4: 155,355,713 (GRCm39)	T227A	probably damaging	Het
Psma7	A	T	2: 179,679,215 (GRCm39)	D184E	probably benign	Het
Rai14	T	A	15: 10,592,282 (GRCm39)	L204F	probably damaging	Het
Ralgapa2	A	G	2: 146,199,920 (GRCm39)	V1208A	probably benign	Het
Rapgef6	A	G	11: 54,582,458 (GRCm39)	R67G	possibly damaging	Het
Ryr2	C	T	13: 11,618,665 (GRCm39)		probably benign	Het
Satb1	T	C	17: 52,047,027 (GRCm39)	S763G	probably benign	Het
Sdk1	A	T	5: 142,020,292 (GRCm39)	H690L	probably benign	Het
Sfrp5	A	C	19: 42,190,143 (GRCm39)	V103G	possibly damaging	Het
Six6	A	G	12: 72,988,451 (GRCm39)	E208G	probably benign	Het
Sspo	A	T	6: 48,437,334 (GRCm39)	H1364L	probably benign	Het
Stard9	A	T	2: 120,529,973 (GRCm39)	T2077S	probably benign	Het
Tacr3	T	C	3: 134,535,254 (GRCm39)	L74P	probably damaging	Het
Tep1	T	C	14: 51,074,245 (GRCm39)	E1880G	probably benign	Het
Tgfb3	A	T	12: 86,116,517 (GRCm39)		probably benign	Het
Thap7	G	A	16: 17,346,576 (GRCm39)	P136S	probably damaging	Het
Thoc2l	T	A	5: 104,667,789 (GRCm39)	Y770*	probably null	Het
Tmc2	T	C	2: 130,098,036 (GRCm39)	V717A	possibly damaging	Het
Usp43	T	A	11: 67,778,593 (GRCm39)	S446C	probably damaging	Het
Vwa3a	C	T	7: 120,379,371 (GRCm39)	S492L	probably damaging	Het
Wdhd1	T	A	14: 47,493,672 (GRCm39)	N16I	probably damaging	Het
Wdr95	A	T	5: 149,516,566 (GRCm39)	D327V	probably damaging	Het
Zfp128	T	G	7: 12,624,563 (GRCm39)	Y310*	probably null	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
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'- TGTGGCTATCTGTCATCCACTGAGG -3'
(R):5'- GGATTCATCATGGGAGTGACCACTG -3'

Sequencing Primer
(F):5'- TGTCATCCACTGAGGTACACAG -3'
(R):5'- ATAGCACTCTTTCTGGAGCTATGAG -3'

Posted On

2014-05-14