Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Or8b12i'

443368

Institutional Source

Beutler Lab

Gene Symbol

Or8b12i

Ensembl Gene

ENSMUSG00000066899

Gene Name

olfactory receptor family 8 subfamily B member 12I

Synonyms

GA_x6K02T2PVTD-13912679-13911744, MOR141-1, Olfr870

MMRRC Submission

043319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20081930-20082865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20082265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 201 (I201F)

Ref Sequence

ENSEMBL: ENSMUSP00000150084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086476] [ENSMUST00000215984]

AlphaFold

Q8VGG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086476
AA Change: I201F

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091405
Gene: ENSMUSG00000066899
AA Change: I201F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	311	1.8e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.8e-7	PFAM
Pfam:7tm_1	41	290	3.9e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157618

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215984
AA Change: I201F

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

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
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	Het

Other mutations in Or8b12i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Or8b12i	APN	9	20,082,826 (GRCm39)	missense	probably damaging	1.00
IGL01809:Or8b12i	APN	9	20,082,591 (GRCm39)	missense	probably damaging	1.00
IGL02130:Or8b12i	APN	9	20,082,654 (GRCm39)	missense	probably damaging	0.96
IGL03062:Or8b12i	APN	9	20,082,463 (GRCm39)	missense	probably damaging	1.00
IGL03133:Or8b12i	APN	9	20,082,009 (GRCm39)	missense	probably damaging	1.00
R0110:Or8b12i	UTSW	9	20,082,561 (GRCm39)	missense	probably benign	0.04
R0350:Or8b12i	UTSW	9	20,082,032 (GRCm39)	nonsense	probably null
R0417:Or8b12i	UTSW	9	20,082,510 (GRCm39)	missense	probably damaging	1.00
R0450:Or8b12i	UTSW	9	20,082,561 (GRCm39)	missense	probably benign	0.04
R0469:Or8b12i	UTSW	9	20,082,561 (GRCm39)	missense	probably benign	0.04
R1169:Or8b12i	UTSW	9	20,082,354 (GRCm39)	missense	probably benign	0.04
R1728:Or8b12i	UTSW	9	20,082,209 (GRCm39)	nonsense	probably null
R1729:Or8b12i	UTSW	9	20,082,209 (GRCm39)	nonsense	probably null
R1776:Or8b12i	UTSW	9	20,082,105 (GRCm39)	missense	probably benign	0.16
R1784:Or8b12i	UTSW	9	20,082,209 (GRCm39)	nonsense	probably null
R1914:Or8b12i	UTSW	9	20,082,324 (GRCm39)	missense	probably benign	0.22
R1915:Or8b12i	UTSW	9	20,082,324 (GRCm39)	missense	probably benign	0.22
R1929:Or8b12i	UTSW	9	20,082,705 (GRCm39)	missense	possibly damaging	0.73
R1936:Or8b12i	UTSW	9	20,082,477 (GRCm39)	missense	probably damaging	1.00
R2066:Or8b12i	UTSW	9	20,082,850 (GRCm39)	missense	probably benign	0.01
R2137:Or8b12i	UTSW	9	20,082,463 (GRCm39)	missense	probably damaging	1.00
R2221:Or8b12i	UTSW	9	20,082,388 (GRCm39)	missense	possibly damaging	0.86
R2270:Or8b12i	UTSW	9	20,082,705 (GRCm39)	missense	possibly damaging	0.73
R2271:Or8b12i	UTSW	9	20,082,705 (GRCm39)	missense	possibly damaging	0.73
R2272:Or8b12i	UTSW	9	20,082,705 (GRCm39)	missense	possibly damaging	0.73
R2509:Or8b12i	UTSW	9	20,082,525 (GRCm39)	missense	probably damaging	1.00
R2939:Or8b12i	UTSW	9	20,082,061 (GRCm39)	missense	probably benign
R2940:Or8b12i	UTSW	9	20,082,061 (GRCm39)	missense	probably benign
R3081:Or8b12i	UTSW	9	20,082,061 (GRCm39)	missense	probably benign
R4579:Or8b12i	UTSW	9	20,082,410 (GRCm39)	missense	probably damaging	1.00
R4667:Or8b12i	UTSW	9	20,082,394 (GRCm39)	missense	probably benign	0.04
R5681:Or8b12i	UTSW	9	20,082,091 (GRCm39)	missense	probably damaging	1.00
R5857:Or8b12i	UTSW	9	20,082,535 (GRCm39)	missense	probably damaging	1.00
R6561:Or8b12i	UTSW	9	20,082,073 (GRCm39)	missense	probably benign	0.01
R6842:Or8b12i	UTSW	9	20,082,549 (GRCm39)	missense	possibly damaging	0.95
R6987:Or8b12i	UTSW	9	20,082,130 (GRCm39)	missense	probably benign	0.03
R7641:Or8b12i	UTSW	9	20,082,549 (GRCm39)	missense	possibly damaging	0.95
R7674:Or8b12i	UTSW	9	20,082,549 (GRCm39)	missense	possibly damaging	0.95
R8375:Or8b12i	UTSW	9	20,082,037 (GRCm39)	missense	probably benign	0.04
R8445:Or8b12i	UTSW	9	20,082,394 (GRCm39)	missense	probably benign	0.01
R9489:Or8b12i	UTSW	9	20,082,093 (GRCm39)	missense	probably damaging	1.00
R9605:Or8b12i	UTSW	9	20,082,093 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTAAGGCCTGTCCCATAG -3'
(R):5'- ATTTGTGGCCATCTGTCACC -3'

Sequencing Primer
(F):5'- TAAGGCCTGTCCCATAGAATAAAG -3'
(R):5'- TCCTCAACTAAGTGGTTTGCTAG -3'

Posted On

2016-11-09