Mutagenetix > Incidental Mutation

Incidental Mutation 'R1554:Or8b40'

170156

Institutional Source

Beutler Lab

Gene Symbol

Or8b40

Ensembl Gene

ENSMUSG00000096356

Gene Name

olfactory receptor family 8 subfamily B member 40

Synonyms

GA_x6K02T2PVTD-31795028-31795957, Olfr889, MOR162-2

MMRRC Submission

039593-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38027094-38028023 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38027230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 46 (I46T)

Ref Sequence

ENSEMBL: ENSMUSP00000148913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072290] [ENSMUST00000211851] [ENSMUST00000217286]

AlphaFold

L7N1Y6

Predicted Effect

probably benign
Transcript: ENSMUST00000072290
AA Change: I51T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000072137
Gene: ENSMUSG00000096356
AA Change: I51T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	311	4.4e-50	PFAM
Pfam:7tm_1	46	293	1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213042
AA Change: I46T

Predicted Effect

probably benign
Transcript: ENSMUST00000217286
AA Change: I46T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,886,302 (GRCm39)	D70E	possibly damaging	Het
Adamts7	A	T	9: 90,055,703 (GRCm39)	D152V	probably damaging	Het
Api5	T	C	2: 94,255,988 (GRCm39)	D233G	probably benign	Het
Btaf1	A	G	19: 36,973,998 (GRCm39)	D1390G	probably benign	Het
Cep135	G	A	5: 76,782,060 (GRCm39)	W893*	probably null	Het
Cgas	A	T	9: 78,342,838 (GRCm39)	S321R	probably damaging	Het
Cmtm6	T	A	9: 114,575,550 (GRCm39)	V153D	possibly damaging	Het
Dnah11	C	T	12: 118,046,234 (GRCm39)	V1735I	possibly damaging	Het
Dnm1l	T	C	16: 16,159,290 (GRCm39)	N104S	probably benign	Het
Dpyd	A	T	3: 118,858,695 (GRCm39)		probably null	Het
Dtx1	T	C	5: 120,821,386 (GRCm39)	K387R	probably damaging	Het
Ercc4	A	G	16: 12,965,486 (GRCm39)	D706G	probably damaging	Het
Fat2	T	C	11: 55,144,490 (GRCm39)	N4128S	probably benign	Het
Gm42669	T	A	5: 107,655,653 (GRCm39)	C639S	possibly damaging	Het
Grk3	T	A	5: 113,117,135 (GRCm39)	I89L	possibly damaging	Het
Grm8	A	T	6: 28,125,852 (GRCm39)	D91E	probably benign	Het
Havcr1	C	A	11: 46,643,334 (GRCm39)	H85N	probably benign	Het
Il12rb1	G	A	8: 71,266,016 (GRCm39)		probably null	Het
Kif3a	A	G	11: 53,489,154 (GRCm39)	K117E	probably damaging	Het
Kitl	T	A	10: 99,923,300 (GRCm39)	F15L	probably benign	Het
Ktn1	T	G	14: 47,932,964 (GRCm39)	L706R	probably damaging	Het
Lipg	T	C	18: 75,081,118 (GRCm39)	Y321C	probably damaging	Het
Mapk8ip3	T	C	17: 25,122,033 (GRCm39)	D710G	probably benign	Het
Mchr1	A	G	15: 81,120,021 (GRCm39)	N16S	probably benign	Het
Myadml2	A	T	11: 120,538,553 (GRCm39)	L94*	probably null	Het
Npr3	C	A	15: 11,848,649 (GRCm39)	M439I	probably benign	Het
Obscn	A	G	11: 58,894,474 (GRCm39)	I6677T	unknown	Het
Ogn	A	C	13: 49,774,520 (GRCm39)	D221A	probably benign	Het
Pard3b	C	A	1: 62,677,053 (GRCm39)	Q1195K	probably damaging	Het
Pcsk4	T	C	10: 80,157,785 (GRCm39)	E608G	probably benign	Het
Pdlim1	T	C	19: 40,211,516 (GRCm39)	D259G	probably benign	Het
Per1	T	C	11: 68,994,453 (GRCm39)	S526P	probably damaging	Het
Pfkfb2	A	G	1: 130,634,209 (GRCm39)	V156A	probably damaging	Het
Ppp4r3a	A	T	12: 101,022,081 (GRCm39)	D307E	probably damaging	Het
Rims4	T	C	2: 163,721,042 (GRCm39)	S70G	probably damaging	Het
Rnf213	T	C	11: 119,332,665 (GRCm39)	F2625L	probably benign	Het
Sap130	T	C	18: 31,799,525 (GRCm39)	L334P	probably damaging	Het
Slc16a10	T	C	10: 39,952,796 (GRCm39)	I233V	probably benign	Het
Slc16a7	A	C	10: 125,066,791 (GRCm39)	F283V	possibly damaging	Het
Slc25a24	T	C	3: 109,043,586 (GRCm39)	M81T	probably benign	Het
Slc30a9	A	G	5: 67,484,264 (GRCm39)	R134G	probably damaging	Het
Slc35d3	G	T	10: 19,726,483 (GRCm39)	L96M	probably damaging	Het
Slc7a11	C	T	3: 50,336,345 (GRCm39)	G333D	probably damaging	Het
Stam	T	C	2: 14,146,639 (GRCm39)	S446P	probably benign	Het
Stk38	T	A	17: 29,198,206 (GRCm39)	N248I	possibly damaging	Het
Tasor2	A	G	13: 3,626,374 (GRCm39)	V1192A	possibly damaging	Het
Tle6	A	C	10: 81,431,219 (GRCm39)	S221A	probably benign	Het
Tmprss11b	G	A	5: 86,809,490 (GRCm39)	T334I	probably benign	Het
Tmprss11c	T	A	5: 86,437,119 (GRCm39)	M1L	possibly damaging	Het
Tpm1	T	C	9: 66,930,711 (GRCm39)	H262R	probably benign	Het
Tspan33	T	C	6: 29,711,081 (GRCm39)	S118P	possibly damaging	Het
Tyk2	A	G	9: 21,019,218 (GRCm39)	V1068A	probably damaging	Het
Ubr2	T	C	17: 47,283,877 (GRCm39)	I591V	probably benign	Het
Utp20	A	T	10: 88,600,599 (GRCm39)	Y38*	probably null	Het
Vmn1r217	A	T	13: 23,298,464 (GRCm39)	I146N	possibly damaging	Het
Zfp608	T	C	18: 55,031,126 (GRCm39)	Y938C	probably damaging	Het

Other mutations in Or8b40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02201:Or8b40	APN	9	38,027,893 (GRCm39)	missense	probably benign	0.02
IGL02604:Or8b40	APN	9	38,027,148 (GRCm39)	nonsense	probably null
IGL02727:Or8b40	APN	9	38,027,808 (GRCm39)	missense	probably damaging	0.99
R0364:Or8b40	UTSW	9	38,027,325 (GRCm39)	missense	probably benign	0.26
R0387:Or8b40	UTSW	9	38,027,066 (GRCm39)	splice site	probably null
R0409:Or8b40	UTSW	9	38,027,547 (GRCm39)	missense	probably benign
R0515:Or8b40	UTSW	9	38,027,313 (GRCm39)	missense	probably damaging	1.00
R0693:Or8b40	UTSW	9	38,027,325 (GRCm39)	missense	probably benign	0.26
R1972:Or8b40	UTSW	9	38,027,863 (GRCm39)	missense	possibly damaging	0.79
R1973:Or8b40	UTSW	9	38,027,863 (GRCm39)	missense	possibly damaging	0.79
R3815:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R3816:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R3817:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R3819:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R5532:Or8b40	UTSW	9	38,027,923 (GRCm39)	missense	probably benign	0.12
R5775:Or8b40	UTSW	9	38,027,423 (GRCm39)	missense	probably damaging	1.00
R5931:Or8b40	UTSW	9	38,027,670 (GRCm39)	missense	probably benign	0.00
R6458:Or8b40	UTSW	9	38,027,350 (GRCm39)	missense	possibly damaging	0.90
R6751:Or8b40	UTSW	9	38,027,271 (GRCm39)	missense	probably damaging	1.00
R7168:Or8b40	UTSW	9	38,027,959 (GRCm39)	missense	probably damaging	1.00
R7673:Or8b40	UTSW	9	38,027,523 (GRCm39)	missense	probably benign	0.00
R7698:Or8b40	UTSW	9	38,027,188 (GRCm39)	nonsense	probably null
R8432:Or8b40	UTSW	9	38,027,272 (GRCm39)	missense	probably damaging	1.00
R9034:Or8b40	UTSW	9	38,027,550 (GRCm39)	missense	possibly damaging	0.83
R9236:Or8b40	UTSW	9	38,027,496 (GRCm39)	missense	possibly damaging	0.47
R9561:Or8b40	UTSW	9	38,028,010 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACCCAGTGAGCCTTTGGTGTG -3'
(R):5'- TGGGACATGGTGACCTGGTAAAGC -3'

Sequencing Primer
(F):5'- TTGAGATTACCACTGAGCCTG -3'
(R):5'- GCTTACAGATGGCAGCATATC -3'

Posted On

2014-04-13