Mutagenetix > Incidental Mutation

Incidental Mutation 'R5681:Or8b12i'

443047

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20081930-20082865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20082091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 259 (Y259H)

Ref Sequence

ENSEMBL: ENSMUSP00000150084 (fasta)

Gene Model

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

AlphaFold

Q8VGG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000086476
AA Change: Y259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091405
Gene: ENSMUSG00000066899
AA Change: Y259H

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

probably damaging
Transcript: ENSMUST00000215984
AA Change: Y259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,814,559 (GRCm39)	F45S	possibly damaging	Het
Adora2b	T	A	11: 62,140,067 (GRCm39)	V47E	probably damaging	Het
Amdhd2	A	G	17: 24,375,014 (GRCm39)	I396T	probably damaging	Het
Arhgap5	G	A	12: 52,566,562 (GRCm39)	D1178N	probably benign	Het
Atp10d	T	C	5: 72,404,289 (GRCm39)		probably benign	Het
Baiap3	A	G	17: 25,468,347 (GRCm39)	S264P	probably damaging	Het
Brinp3	A	T	1: 146,777,484 (GRCm39)	I644F	probably benign	Het
Ccdc168	A	T	1: 44,100,624 (GRCm39)	V158D	possibly damaging	Het
Ccdc66	T	C	14: 27,208,698 (GRCm39)	R675G	probably benign	Het
Cnr2	T	G	4: 135,644,000 (GRCm39)	M26R	probably damaging	Het
Col6a2	A	T	10: 76,445,085 (GRCm39)		probably null	Het
Cux1	A	G	5: 136,337,038 (GRCm39)	W696R	probably damaging	Het
D6Ertd527e	A	G	6: 87,088,188 (GRCm39)	N117S	unknown	Het
Dnah12	T	C	14: 26,537,452 (GRCm39)	C2234R	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock2	T	G	11: 34,199,836 (GRCm39)	I1405L	probably benign	Het
Dsg1c	T	C	18: 20,416,270 (GRCm39)	F724L	probably damaging	Het
Elapor2	T	A	5: 9,509,308 (GRCm39)		probably null	Het
Enoph1	T	C	5: 100,210,136 (GRCm39)		probably null	Het
Epha10	A	T	4: 124,796,359 (GRCm39)	Q356L	unknown	Het
Fbln2	G	T	6: 91,248,778 (GRCm39)	V1148L	probably damaging	Het
Firrm	T	C	1: 163,789,654 (GRCm39)	N627S	probably damaging	Het
Gp2	C	T	7: 119,051,517 (GRCm39)	V233M	possibly damaging	Het
Gtf2ird1	T	A	5: 134,392,172 (GRCm39)	S800C	probably damaging	Het
Hat1	A	G	2: 71,264,553 (GRCm39)		probably null	Het
Hpdl	A	T	4: 116,678,039 (GRCm39)	S141T	probably benign	Het
Klhl29	A	G	12: 5,140,669 (GRCm39)	S658P	possibly damaging	Het
Lifr	T	A	15: 7,220,565 (GRCm39)	I1065N	probably damaging	Het
Lrrn2	G	T	1: 132,864,899 (GRCm39)		probably benign	Het
Marchf9	T	A	10: 126,894,172 (GRCm39)	I144F	probably benign	Het
Mtnr1a	A	G	8: 45,540,974 (GRCm39)	I312V	possibly damaging	Het
Ngf	T	A	3: 102,427,669 (GRCm39)	F139L	probably damaging	Het
Nipbl	T	C	15: 8,330,866 (GRCm39)	I2318V	probably benign	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nphs1	A	G	7: 30,186,050 (GRCm39)	D1227G	probably benign	Het
Olfm3	C	A	3: 114,915,924 (GRCm39)	N285K	probably benign	Het
Or1j1	C	A	2: 36,702,693 (GRCm39)	S137I	probably benign	Het
Or4f60	T	A	2: 111,902,722 (GRCm39)	I69F	probably benign	Het
Or7g35	G	A	9: 19,496,195 (GRCm39)	D121N	probably damaging	Het
Or8b39	C	T	9: 37,996,927 (GRCm39)	S265F	possibly damaging	Het
Osbp2	A	G	11: 3,813,486 (GRCm39)	S128P	probably benign	Het
Otop2	A	T	11: 115,217,685 (GRCm39)	M174L	probably damaging	Het
Pard3	A	G	8: 128,115,914 (GRCm39)	T668A	possibly damaging	Het
Pkhd1	T	C	1: 20,617,685 (GRCm39)	T967A	possibly damaging	Het
Pls1	A	G	9: 95,669,065 (GRCm39)	V52A	probably damaging	Het
Ptcd3	T	C	6: 71,884,643 (GRCm39)	K64R	probably damaging	Het
Pxn	T	C	5: 115,682,593 (GRCm39)	W69R	possibly damaging	Het
Rai14	T	C	15: 10,575,206 (GRCm39)	D584G	probably damaging	Het
Safb	G	A	17: 56,906,000 (GRCm39)		probably benign	Het
Serinc2	A	C	4: 130,158,869 (GRCm39)	L10R	probably damaging	Het
Serpinb12	A	T	1: 106,874,431 (GRCm39)	H52L	probably benign	Het
Serpinb9h	G	A	13: 33,579,812 (GRCm39)	C20Y	probably damaging	Het
Serpinf2	A	G	11: 75,326,765 (GRCm39)	Y273H	probably damaging	Het
Slc2a10	T	A	2: 165,356,660 (GRCm39)	S107T	probably benign	Het
Slc41a3	T	C	6: 90,617,928 (GRCm39)	L318P	probably damaging	Het
Slc6a3	A	T	13: 73,686,854 (GRCm39)	I74F	probably damaging	Het
Snrnp200	G	A	2: 127,067,055 (GRCm39)	G788D	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sox11	G	T	12: 27,391,823 (GRCm39)	D195E	probably benign	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Tab2	A	G	10: 7,795,837 (GRCm39)	I215T	probably damaging	Het
Ttn	C	T	2: 76,660,942 (GRCm39)	V7422I	possibly damaging	Het
Unc13c	A	T	9: 73,453,357 (GRCm39)		probably null	Het
Wdr17	T	C	8: 55,115,904 (GRCm39)	D633G	probably damaging	Het
Wdsub1	A	T	2: 59,683,239 (GRCm39)	M445K	probably damaging	Het
Xpc	A	G	6: 91,481,102 (GRCm39)	F257L	probably damaging	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
R5686:Or8b12i	UTSW	9	20,082,265 (GRCm39)	missense	possibly damaging	0.75
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'- TCAGTTCAGATGTCTAAAACCAGTG -3'
(R):5'- GCCTGCTCAGATACACTAATCAATC -3'

Sequencing Primer
(F):5'- GATGAAAGGGTTCAGCATG -3'
(R):5'- CCTTCTTTATATTGTGATATGGGTCC -3'

Posted On

2016-11-09